Mutagenetix > Incidental Mutation

Incidental Mutation 'F6893:Fat3'

196

Institutional Source

Beutler Lab

Gene Symbol

Fat3

Ensembl Gene

ENSMUSG00000074505

Gene Name

FAT atypical cadherin 3

Synonyms

D430038H04Rik, LOC382129, LOC234973, 9430076A06Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

F6893 (G3) of strain busy

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15821485-16412581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 15918085 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Leucine to Arginine at position 1446 (L1446R)

Ref Sequence

ENSEMBL: ENSMUSP00000148968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082170] [ENSMUST00000217308]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000082170
AA Change: L1446R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080808
Gene: ENSMUSG00000074505
AA Change: L1446R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	65	151	3e-7	SMART
CA	175	259	8.9e-22	SMART
CA	280	368	8.9e-4	SMART
CA	389	465	2.6e-11	SMART
CA	489	571	2e-29	SMART
low complexity region	684	697	N/A	INTRINSIC
CA	743	824	1e-24	SMART
low complexity region	830	840	N/A	INTRINSIC
CA	848	929	7.6e-26	SMART
CA	953	1034	1.5e-25	SMART
CA	1060	1141	6.6e-32	SMART
CA	1165	1247	1.5e-30	SMART
CA	1273	1349	1.8e-8	SMART
CA	1375	1453	2.9e-12	SMART
CA	1477	1559	3e-22	SMART
CA	1583	1664	3.1e-16	SMART
CA	1688	1762	4.2e-22	SMART
CA	1793	1876	2.5e-26	SMART
CA	1900	1975	1.5e-8	SMART
low complexity region	1983	1994	N/A	INTRINSIC
CA	1999	2077	1.4e-18	SMART
CA	2101	2179	6.6e-10	SMART
CA	2203	2280	4.9e-19	SMART
CA	2304	2387	4.3e-29	SMART
CA	2411	2489	4.2e-11	SMART
CA	2513	2593	2.8e-22	SMART
CA	2617	2701	4.3e-10	SMART
CA	2719	2807	2.5e-7	SMART
CA	2831	2917	3.3e-27	SMART
CA	2941	3022	9.4e-23	SMART
CA	3046	3124	2.4e-26	SMART
CA	3148	3229	1.3e-32	SMART
CA	3253	3334	1.3e-29	SMART
CA	3358	3439	4.9e-28	SMART
CA	3463	3544	6.4e-12	SMART
EGF	3793	3828	1.3e-1	SMART
LamG	3852	3989	4.3e-25	SMART
EGF	4019	4053	2.7e-6	SMART
EGF	4058	4091	4.5e-6	SMART
EGF_CA	4093	4129	3.9e-11	SMART
transmembrane domain	4151	4170	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213517

Predicted Effect

probably damaging
Transcript: ENSMUST00000217308
AA Change: L1446R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.4827

Coding Region Coverage

1x: 88.7%
3x: 74.0%

Validation Efficiency

88% (165/188)

MGI Phenotype

PHENOTYPE: Mice homozgyous for a knock-out allele exhibit abnormal amacrine cell differentiation and migration that result in the formation of two additional plexiform layers and thickened retinal ganglion layer. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,924,261 (GRCm39)	V1638M	probably damaging	Het
Agrn	C	T	4: 156,258,636 (GRCm39)	R972Q	probably benign	Het
Anxa3	T	C	5: 96,972,853 (GRCm39)		probably benign	Het
Bpifa6	G	T	2: 153,829,078 (GRCm39)	D202Y	probably damaging	Het
Ccdc15	G	A	9: 37,226,936 (GRCm39)	T346I	probably damaging	Homo
Celsr3	G	A	9: 108,712,266 (GRCm39)	R1731H	probably benign	Het
Ces4a	A	G	8: 105,873,859 (GRCm39)	R443G	possibly damaging	Het
Chd2	T	C	7: 73,157,620 (GRCm39)	Q175R	possibly damaging	Het
Dpyd	T	A	3: 118,597,783 (GRCm39)		probably null	Het
Dscam	G	T	16: 96,857,660 (GRCm39)	H117N	possibly damaging	Het
F13a1	A	G	13: 37,155,999 (GRCm39)	Y205H	probably damaging	Het
Golga4	T	C	9: 118,382,525 (GRCm39)	L515S	probably damaging	Het
Hoxb1	A	T	11: 96,256,728 (GRCm39)	T26S	probably benign	Het
Igsf10	T	G	3: 59,238,481 (GRCm39)	T567P	probably damaging	Het
Lamb2	T	C	9: 108,359,755 (GRCm39)	V365A	probably benign	Het
Mepe	A	G	5: 104,485,242 (GRCm39)	I127M	possibly damaging	Het
Mpi	A	T	9: 57,453,832 (GRCm39)	M230K	probably benign	Homo
Myh4	A	G	11: 67,146,283 (GRCm39)	D1447G	probably null	Homo
Or1f19	A	G	16: 3,411,027 (GRCm39)	I256V	possibly damaging	Het
Or1j4	A	G	2: 36,740,819 (GRCm39)	T254A	probably benign	Het
Panx2	T	C	15: 88,952,213 (GRCm39)	Y227H	probably damaging	Homo
Pdzd7	A	G	19: 45,025,173 (GRCm39)	W441R	probably damaging	Het
Poldip2	A	G	11: 78,410,020 (GRCm39)	I267M	probably damaging	Homo
Pros1	T	A	16: 62,745,002 (GRCm39)	V539E	probably damaging	Het
Sacs	T	C	14: 61,450,425 (GRCm39)	M4157T	probably benign	Het
Slc45a3	A	G	1: 131,909,075 (GRCm39)	E424G	probably benign	Homo
Slc9a1	A	G	4: 133,149,457 (GRCm39)	E761G	probably benign	Homo
Stab2	G	A	10: 86,691,035 (GRCm39)	P2178L	probably damaging	Het
Syt4	C	T	18: 31,577,274 (GRCm39)	V27I	possibly damaging	Homo
Thumpd1	T	A	7: 119,319,799 (GRCm39)	K56*	probably null	Het
Tpr	A	G	1: 150,269,313 (GRCm39)	K19E	possibly damaging	Homo
Ttll10	A	G	4: 156,132,775 (GRCm39)	I74T	probably benign	Het
Txnrd1	C	T	10: 82,702,823 (GRCm39)	Q95*	probably null	Homo
Zc3h7b	A	G	15: 81,662,872 (GRCm39)	E421G	possibly damaging	Homo
Zc3hc1	G	T	6: 30,387,525 (GRCm39)	D51E	probably benign	Homo

Other mutations in Fat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Fat3	APN	9	15,907,723 (GRCm39)	missense	possibly damaging	0.77
IGL00962:Fat3	APN	9	15,826,815 (GRCm39)	missense	probably benign	0.14
IGL00966:Fat3	APN	9	15,910,390 (GRCm39)	missense	possibly damaging	0.69
IGL01100:Fat3	APN	9	16,286,524 (GRCm39)	missense	probably damaging	1.00
IGL01104:Fat3	APN	9	16,287,024 (GRCm39)	missense	possibly damaging	0.92
IGL01104:Fat3	APN	9	15,909,756 (GRCm39)	missense	probably damaging	1.00
IGL01121:Fat3	APN	9	15,909,697 (GRCm39)	missense	probably benign	0.00
IGL01407:Fat3	APN	9	16,289,319 (GRCm39)	missense	probably benign	0.01
IGL01444:Fat3	APN	9	15,910,144 (GRCm39)	missense	probably damaging	1.00
IGL01634:Fat3	APN	9	15,909,654 (GRCm39)	missense	probably damaging	1.00
IGL01649:Fat3	APN	9	16,288,015 (GRCm39)	missense	possibly damaging	0.95
IGL01839:Fat3	APN	9	15,909,168 (GRCm39)	missense	probably damaging	1.00
IGL01867:Fat3	APN	9	16,289,197 (GRCm39)	missense	probably benign	0.03
IGL01894:Fat3	APN	9	16,287,145 (GRCm39)	missense	probably benign
IGL01913:Fat3	APN	9	15,910,086 (GRCm39)	missense	probably damaging	0.99
IGL02033:Fat3	APN	9	15,826,648 (GRCm39)	missense	possibly damaging	0.50
IGL02035:Fat3	APN	9	16,289,266 (GRCm39)	missense	probably benign	0.06
IGL02146:Fat3	APN	9	15,910,878 (GRCm39)	missense	probably benign
IGL02147:Fat3	APN	9	15,907,281 (GRCm39)	missense	probably damaging	1.00
IGL02161:Fat3	APN	9	15,908,346 (GRCm39)	missense	probably benign	0.10
IGL02161:Fat3	APN	9	15,908,347 (GRCm39)	nonsense	probably null
IGL02164:Fat3	APN	9	15,942,720 (GRCm39)	splice site	probably benign
IGL02269:Fat3	APN	9	15,826,873 (GRCm39)	missense	possibly damaging	0.84
IGL02314:Fat3	APN	9	15,881,134 (GRCm39)	missense	possibly damaging	0.61
IGL02393:Fat3	APN	9	15,899,708 (GRCm39)	nonsense	probably null
IGL02410:Fat3	APN	9	15,909,141 (GRCm39)	missense	probably damaging	1.00
IGL02504:Fat3	APN	9	15,871,094 (GRCm39)	missense	probably damaging	1.00
IGL02572:Fat3	APN	9	15,871,802 (GRCm39)	missense	probably benign
IGL02623:Fat3	APN	9	15,908,433 (GRCm39)	missense	probably damaging	1.00
IGL02654:Fat3	APN	9	15,908,271 (GRCm39)	missense	possibly damaging	0.84
IGL02749:Fat3	APN	9	15,918,007 (GRCm39)	missense	possibly damaging	0.93
IGL02810:Fat3	APN	9	16,288,146 (GRCm39)	missense	probably damaging	1.00
IGL02839:Fat3	APN	9	15,830,466 (GRCm39)	missense	probably damaging	1.00
IGL02890:Fat3	APN	9	15,826,636 (GRCm39)	missense	probably benign	0.03
IGL02892:Fat3	APN	9	16,288,858 (GRCm39)	missense	probably damaging	1.00
IGL03090:Fat3	APN	9	16,288,535 (GRCm39)	nonsense	probably null
IGL03144:Fat3	APN	9	16,286,541 (GRCm39)	missense	probably damaging	1.00
IGL03199:Fat3	APN	9	16,288,344 (GRCm39)	missense	possibly damaging	0.83
IGL03365:Fat3	APN	9	15,907,765 (GRCm39)	missense	probably damaging	1.00
IGL03392:Fat3	APN	9	15,915,158 (GRCm39)	missense	probably benign
IGL03408:Fat3	APN	9	15,909,253 (GRCm39)	nonsense	probably null
gagged	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
hushed	UTSW	9	15,871,165 (GRCm39)	missense	possibly damaging	0.72
Muffled	UTSW	9	15,849,287 (GRCm39)	critical splice donor site	probably null
muted	UTSW	9	15,908,773 (GRCm39)	missense	possibly damaging	0.93
Softened	UTSW	9	16,289,481 (GRCm39)	missense	probably benign
BB001:Fat3	UTSW	9	15,910,593 (GRCm39)	missense	probably damaging	1.00
BB002:Fat3	UTSW	9	15,942,656 (GRCm39)	missense	possibly damaging	0.77
BB011:Fat3	UTSW	9	15,910,593 (GRCm39)	missense	probably damaging	1.00
BB012:Fat3	UTSW	9	15,942,656 (GRCm39)	missense	possibly damaging	0.77
IGL03050:Fat3	UTSW	9	15,907,896 (GRCm39)	missense	probably benign	0.04
PIT4142001:Fat3	UTSW	9	15,903,414 (GRCm39)	critical splice donor site	probably null
PIT4283001:Fat3	UTSW	9	15,917,897 (GRCm39)	missense	possibly damaging	0.77
PIT4378001:Fat3	UTSW	9	16,288,104 (GRCm39)	missense	probably benign	0.05
PIT4434001:Fat3	UTSW	9	15,907,612 (GRCm39)	missense	probably benign	0.00
PIT4468001:Fat3	UTSW	9	15,907,647 (GRCm39)	missense	probably benign	0.06
R0001:Fat3	UTSW	9	16,289,169 (GRCm39)	missense	probably damaging	0.99
R0005:Fat3	UTSW	9	15,874,162 (GRCm39)	missense	probably damaging	1.00
R0005:Fat3	UTSW	9	15,874,162 (GRCm39)	missense	probably damaging	1.00
R0038:Fat3	UTSW	9	15,826,306 (GRCm39)	missense	probably damaging	1.00
R0046:Fat3	UTSW	9	15,877,275 (GRCm39)	missense	possibly damaging	0.65
R0089:Fat3	UTSW	9	15,849,501 (GRCm39)	missense	probably benign
R0135:Fat3	UTSW	9	15,918,073 (GRCm39)	missense	probably damaging	1.00
R0255:Fat3	UTSW	9	15,881,002 (GRCm39)	splice site	probably benign
R0349:Fat3	UTSW	9	15,942,476 (GRCm39)	missense	probably damaging	1.00
R0361:Fat3	UTSW	9	15,909,699 (GRCm39)	missense	possibly damaging	0.77
R0382:Fat3	UTSW	9	15,871,052 (GRCm39)	missense	probably damaging	1.00
R0418:Fat3	UTSW	9	16,158,192 (GRCm39)	missense	probably damaging	1.00
R0419:Fat3	UTSW	9	15,903,552 (GRCm39)	missense	probably damaging	1.00
R0437:Fat3	UTSW	9	15,908,228 (GRCm39)	missense	probably damaging	1.00
R0441:Fat3	UTSW	9	15,856,304 (GRCm39)	splice site	probably benign
R0480:Fat3	UTSW	9	15,909,025 (GRCm39)	missense	probably benign	0.00
R0510:Fat3	UTSW	9	15,910,981 (GRCm39)	nonsense	probably null
R0665:Fat3	UTSW	9	15,908,698 (GRCm39)	missense	probably benign
R0715:Fat3	UTSW	9	16,286,419 (GRCm39)	missense	probably benign
R0727:Fat3	UTSW	9	15,907,995 (GRCm39)	missense	probably damaging	1.00
R0882:Fat3	UTSW	9	15,942,664 (GRCm39)	missense	possibly damaging	0.84
R0946:Fat3	UTSW	9	15,909,100 (GRCm39)	missense	possibly damaging	0.95
R1068:Fat3	UTSW	9	15,881,330 (GRCm39)	missense	probably benign
R1081:Fat3	UTSW	9	16,286,580 (GRCm39)	missense	possibly damaging	0.62
R1082:Fat3	UTSW	9	15,917,911 (GRCm39)	missense	probably damaging	1.00
R1148:Fat3	UTSW	9	15,908,070 (GRCm39)	missense	probably damaging	1.00
R1148:Fat3	UTSW	9	15,908,070 (GRCm39)	missense	probably damaging	1.00
R1233:Fat3	UTSW	9	15,834,041 (GRCm39)	missense	probably benign
R1306:Fat3	UTSW	9	16,287,975 (GRCm39)	missense	probably damaging	1.00
R1311:Fat3	UTSW	9	15,932,706 (GRCm39)	missense	probably damaging	1.00
R1338:Fat3	UTSW	9	15,836,387 (GRCm39)	missense	probably benign	0.00
R1395:Fat3	UTSW	9	16,158,212 (GRCm39)	missense	probably benign	0.00
R1466:Fat3	UTSW	9	16,286,778 (GRCm39)	missense	probably damaging	0.96
R1466:Fat3	UTSW	9	16,286,778 (GRCm39)	missense	probably damaging	0.96
R1510:Fat3	UTSW	9	15,871,351 (GRCm39)	missense	probably damaging	1.00
R1528:Fat3	UTSW	9	15,836,387 (GRCm39)	missense	probably benign	0.00
R1531:Fat3	UTSW	9	15,908,761 (GRCm39)	missense	probably damaging	1.00
R1659:Fat3	UTSW	9	15,908,479 (GRCm39)	missense	possibly damaging	0.91
R1697:Fat3	UTSW	9	15,856,176 (GRCm39)	missense	probably benign	0.05
R1699:Fat3	UTSW	9	15,849,694 (GRCm39)	missense	probably damaging	1.00
R1728:Fat3	UTSW	9	15,907,611 (GRCm39)	missense	possibly damaging	0.65
R1729:Fat3	UTSW	9	15,907,611 (GRCm39)	missense	possibly damaging	0.65
R1731:Fat3	UTSW	9	15,907,233 (GRCm39)	missense	probably benign
R1784:Fat3	UTSW	9	15,907,611 (GRCm39)	missense	possibly damaging	0.65
R1789:Fat3	UTSW	9	16,288,281 (GRCm39)	missense	probably benign	0.00
R1794:Fat3	UTSW	9	15,908,434 (GRCm39)	missense	probably benign	0.15
R1794:Fat3	UTSW	9	15,908,432 (GRCm39)	nonsense	probably null
R1830:Fat3	UTSW	9	15,826,636 (GRCm39)	missense	probably benign	0.03
R1835:Fat3	UTSW	9	15,909,384 (GRCm39)	missense	probably damaging	1.00
R1887:Fat3	UTSW	9	15,878,357 (GRCm39)	missense	probably damaging	1.00
R1898:Fat3	UTSW	9	15,871,426 (GRCm39)	missense	probably damaging	1.00
R1909:Fat3	UTSW	9	15,909,411 (GRCm39)	missense	probably benign
R1912:Fat3	UTSW	9	15,881,284 (GRCm39)	missense	probably damaging	1.00
R1917:Fat3	UTSW	9	15,908,353 (GRCm39)	missense	possibly damaging	0.55
R1967:Fat3	UTSW	9	15,879,591 (GRCm39)	missense	probably benign	0.00
R2070:Fat3	UTSW	9	15,910,666 (GRCm39)	missense	probably benign	0.21
R2100:Fat3	UTSW	9	16,288,726 (GRCm39)	missense	possibly damaging	0.73
R2104:Fat3	UTSW	9	15,909,813 (GRCm39)	missense	possibly damaging	0.77
R2113:Fat3	UTSW	9	15,911,082 (GRCm39)	missense	probably damaging	1.00
R2132:Fat3	UTSW	9	16,158,015 (GRCm39)	critical splice donor site	probably null
R2136:Fat3	UTSW	9	16,288,347 (GRCm39)	missense	probably benign	0.01
R2146:Fat3	UTSW	9	15,901,808 (GRCm39)	missense	probably benign	0.01
R2233:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R2234:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R2273:Fat3	UTSW	9	15,826,558 (GRCm39)	missense	probably benign
R2285:Fat3	UTSW	9	16,287,469 (GRCm39)	missense	probably damaging	1.00
R2363:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R2365:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R2367:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R2403:Fat3	UTSW	9	15,881,167 (GRCm39)	missense	probably damaging	1.00
R2447:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R2496:Fat3	UTSW	9	15,877,399 (GRCm39)	missense	probably benign	0.01
R2509:Fat3	UTSW	9	15,836,310 (GRCm39)	missense	possibly damaging	0.82
R2932:Fat3	UTSW	9	16,287,240 (GRCm39)	missense	probably damaging	1.00
R2986:Fat3	UTSW	9	15,903,424 (GRCm39)	missense	probably damaging	1.00
R3054:Fat3	UTSW	9	15,871,792 (GRCm39)	missense	probably benign
R3056:Fat3	UTSW	9	15,871,792 (GRCm39)	missense	probably benign
R3729:Fat3	UTSW	9	16,158,337 (GRCm39)	splice site	probably benign
R3745:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R3806:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R3859:Fat3	UTSW	9	15,908,524 (GRCm39)	nonsense	probably null
R3862:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R3890:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R3892:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R3950:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R3972:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4004:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4005:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4086:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4111:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4113:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4227:Fat3	UTSW	9	16,288,989 (GRCm39)	missense	probably damaging	1.00
R4352:Fat3	UTSW	9	16,158,074 (GRCm39)	missense	possibly damaging	0.55
R4394:Fat3	UTSW	9	15,834,088 (GRCm39)	missense	probably benign	0.11
R4403:Fat3	UTSW	9	15,856,169 (GRCm39)	missense	probably damaging	1.00
R4433:Fat3	UTSW	9	15,942,448 (GRCm39)	missense	probably damaging	0.99
R4453:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4479:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4480:Fat3	UTSW	9	15,909,567 (GRCm39)	missense	probably damaging	1.00
R4521:Fat3	UTSW	9	15,834,238 (GRCm39)	missense	probably null	0.71
R4620:Fat3	UTSW	9	15,908,190 (GRCm39)	missense	probably damaging	1.00
R4700:Fat3	UTSW	9	15,942,469 (GRCm39)	missense	probably damaging	1.00
R4721:Fat3	UTSW	9	15,941,262 (GRCm39)	missense	probably damaging	1.00
R4790:Fat3	UTSW	9	15,909,780 (GRCm39)	missense	probably damaging	1.00
R4796:Fat3	UTSW	9	15,911,028 (GRCm39)	missense	probably benign	0.17
R4823:Fat3	UTSW	9	15,907,803 (GRCm39)	missense	probably benign
R4836:Fat3	UTSW	9	16,289,019 (GRCm39)	missense	probably damaging	1.00
R4842:Fat3	UTSW	9	15,908,883 (GRCm39)	missense	probably damaging	1.00
R4849:Fat3	UTSW	9	16,289,244 (GRCm39)	missense	probably benign	0.03
R4856:Fat3	UTSW	9	15,932,626 (GRCm39)	missense	probably benign
R4869:Fat3	UTSW	9	16,288,773 (GRCm39)	missense	probably damaging	0.98
R4886:Fat3	UTSW	9	15,932,626 (GRCm39)	missense	probably benign
R4899:Fat3	UTSW	9	15,881,095 (GRCm39)	missense	probably damaging	1.00
R4941:Fat3	UTSW	9	16,286,448 (GRCm39)	missense	probably damaging	1.00
R4986:Fat3	UTSW	9	15,909,636 (GRCm39)	missense	probably damaging	1.00
R5058:Fat3	UTSW	9	15,908,154 (GRCm39)	missense	probably damaging	1.00
R5079:Fat3	UTSW	9	15,910,423 (GRCm39)	missense	probably benign	0.01
R5080:Fat3	UTSW	9	15,910,634 (GRCm39)	missense	probably benign	0.35
R5174:Fat3	UTSW	9	15,910,866 (GRCm39)	missense	probably damaging	1.00
R5183:Fat3	UTSW	9	15,871,609 (GRCm39)	missense	probably damaging	0.99
R5203:Fat3	UTSW	9	16,289,438 (GRCm39)	missense	possibly damaging	0.79
R5216:Fat3	UTSW	9	16,288,833 (GRCm39)	missense	probably damaging	1.00
R5230:Fat3	UTSW	9	15,901,856 (GRCm39)	missense	possibly damaging	0.51
R5318:Fat3	UTSW	9	16,287,925 (GRCm39)	missense	probably damaging	1.00
R5377:Fat3	UTSW	9	16,287,739 (GRCm39)	missense	probably benign	0.05
R5385:Fat3	UTSW	9	15,833,971 (GRCm39)	missense	possibly damaging	0.82
R5436:Fat3	UTSW	9	15,871,810 (GRCm39)	missense	probably benign	0.02
R5437:Fat3	UTSW	9	15,996,604 (GRCm39)	missense	probably damaging	1.00
R5453:Fat3	UTSW	9	15,908,160 (GRCm39)	missense	probably damaging	1.00
R5460:Fat3	UTSW	9	15,830,463 (GRCm39)	missense	probably damaging	1.00
R5516:Fat3	UTSW	9	15,910,005 (GRCm39)	missense	probably damaging	1.00
R5568:Fat3	UTSW	9	16,288,219 (GRCm39)	nonsense	probably null
R5628:Fat3	UTSW	9	15,877,392 (GRCm39)	missense	probably damaging	1.00
R5835:Fat3	UTSW	9	16,287,129 (GRCm39)	missense	probably damaging	1.00
R5845:Fat3	UTSW	9	16,288,506 (GRCm39)	missense	probably damaging	1.00
R5898:Fat3	UTSW	9	15,849,757 (GRCm39)	missense	probably benign	0.15
R5941:Fat3	UTSW	9	15,910,797 (GRCm39)	missense	probably benign	0.07
R5974:Fat3	UTSW	9	15,917,824 (GRCm39)	critical splice donor site	probably null
R5986:Fat3	UTSW	9	15,909,613 (GRCm39)	missense	probably benign	0.22
R6015:Fat3	UTSW	9	16,287,346 (GRCm39)	missense	possibly damaging	0.55
R6031:Fat3	UTSW	9	15,899,788 (GRCm39)	missense	probably benign	0.02
R6031:Fat3	UTSW	9	15,899,788 (GRCm39)	missense	probably benign	0.02
R6042:Fat3	UTSW	9	16,289,113 (GRCm39)	missense	probably benign	0.12
R6051:Fat3	UTSW	9	16,286,751 (GRCm39)	missense	possibly damaging	0.83
R6052:Fat3	UTSW	9	15,833,975 (GRCm39)	missense	probably null
R6119:Fat3	UTSW	9	16,287,864 (GRCm39)	missense	possibly damaging	0.82
R6161:Fat3	UTSW	9	16,288,818 (GRCm39)	missense	probably damaging	1.00
R6254:Fat3	UTSW	9	15,907,441 (GRCm39)	missense	probably benign	0.19
R6318:Fat3	UTSW	9	15,828,280 (GRCm39)	intron	probably benign
R6347:Fat3	UTSW	9	15,909,668 (GRCm39)	missense	probably damaging	1.00
R6348:Fat3	UTSW	9	15,849,287 (GRCm39)	critical splice donor site	probably null
R6351:Fat3	UTSW	9	15,849,694 (GRCm39)	missense	probably damaging	1.00
R6450:Fat3	UTSW	9	15,910,466 (GRCm39)	missense	possibly damaging	0.51
R6460:Fat3	UTSW	9	15,878,296 (GRCm39)	missense	probably damaging	1.00
R6524:Fat3	UTSW	9	15,903,552 (GRCm39)	missense	probably damaging	1.00
R6533:Fat3	UTSW	9	15,910,195 (GRCm39)	missense	probably benign	0.02
R6565:Fat3	UTSW	9	15,826,623 (GRCm39)	missense	probably benign
R6576:Fat3	UTSW	9	16,288,506 (GRCm39)	missense	probably damaging	1.00
R6649:Fat3	UTSW	9	16,288,038 (GRCm39)	missense	probably damaging	1.00
R6716:Fat3	UTSW	9	15,830,565 (GRCm39)	missense	probably benign
R6719:Fat3	UTSW	9	15,907,440 (GRCm39)	missense	probably benign
R6753:Fat3	UTSW	9	15,826,357 (GRCm39)	missense	possibly damaging	0.82
R6754:Fat3	UTSW	9	15,826,357 (GRCm39)	missense	possibly damaging	0.82
R6755:Fat3	UTSW	9	15,826,357 (GRCm39)	missense	possibly damaging	0.82
R6792:Fat3	UTSW	9	16,286,940 (GRCm39)	missense	probably damaging	1.00
R6802:Fat3	UTSW	9	15,826,357 (GRCm39)	missense	possibly damaging	0.82
R6803:Fat3	UTSW	9	15,908,083 (GRCm39)	missense	probably damaging	0.99
R6831:Fat3	UTSW	9	16,287,847 (GRCm39)	missense	probably damaging	0.98
R6831:Fat3	UTSW	9	15,826,357 (GRCm39)	missense	possibly damaging	0.82
R6833:Fat3	UTSW	9	15,826,357 (GRCm39)	missense	possibly damaging	0.82
R6877:Fat3	UTSW	9	15,910,564 (GRCm39)	missense	probably benign
R6894:Fat3	UTSW	9	15,909,072 (GRCm39)	missense	probably damaging	1.00
R6915:Fat3	UTSW	9	16,289,044 (GRCm39)	missense	probably benign	0.37
R6931:Fat3	UTSW	9	15,871,238 (GRCm39)	missense	possibly damaging	0.89
R6934:Fat3	UTSW	9	16,288,252 (GRCm39)	missense	probably damaging	0.98
R6940:Fat3	UTSW	9	15,828,096 (GRCm39)	splice site	probably null
R6959:Fat3	UTSW	9	15,908,181 (GRCm39)	missense	possibly damaging	0.91
R6969:Fat3	UTSW	9	15,941,212 (GRCm39)	missense	probably benign	0.29
R6986:Fat3	UTSW	9	15,932,631 (GRCm39)	missense	probably damaging	1.00
R6993:Fat3	UTSW	9	15,830,517 (GRCm39)	missense	probably damaging	1.00
R7039:Fat3	UTSW	9	16,287,561 (GRCm39)	missense	probably damaging	1.00
R7051:Fat3	UTSW	9	16,289,123 (GRCm39)	missense	probably damaging	1.00
R7089:Fat3	UTSW	9	15,908,214 (GRCm39)	missense	probably benign	0.01
R7136:Fat3	UTSW	9	16,289,481 (GRCm39)	missense	probably benign
R7137:Fat3	UTSW	9	15,908,444 (GRCm39)	missense	probably damaging	1.00
R7154:Fat3	UTSW	9	15,908,160 (GRCm39)	missense	probably damaging	1.00
R7170:Fat3	UTSW	9	15,917,870 (GRCm39)	missense	probably damaging	0.99
R7183:Fat3	UTSW	9	15,834,133 (GRCm39)	missense	possibly damaging	0.81
R7237:Fat3	UTSW	9	16,288,510 (GRCm39)	missense	probably damaging	1.00
R7288:Fat3	UTSW	9	15,909,888 (GRCm39)	missense	probably damaging	1.00
R7293:Fat3	UTSW	9	15,826,592 (GRCm39)	missense
R7293:Fat3	UTSW	9	15,826,336 (GRCm39)	missense
R7381:Fat3	UTSW	9	16,158,283 (GRCm39)	missense	probably damaging	1.00
R7438:Fat3	UTSW	9	15,899,778 (GRCm39)	missense	probably benign
R7537:Fat3	UTSW	9	15,849,615 (GRCm39)	missense	probably damaging	1.00
R7560:Fat3	UTSW	9	15,908,138 (GRCm39)	missense	probably damaging	1.00
R7585:Fat3	UTSW	9	15,909,558 (GRCm39)	missense	probably benign	0.03
R7623:Fat3	UTSW	9	15,899,620 (GRCm39)	missense	probably damaging	1.00
R7624:Fat3	UTSW	9	15,871,165 (GRCm39)	missense	possibly damaging	0.72
R7684:Fat3	UTSW	9	15,899,564 (GRCm39)	critical splice donor site	probably null
R7690:Fat3	UTSW	9	15,909,477 (GRCm39)	missense	probably damaging	1.00
R7804:Fat3	UTSW	9	15,901,888 (GRCm39)	missense	probably benign	0.01
R7809:Fat3	UTSW	9	15,917,924 (GRCm39)	missense	probably damaging	1.00
R7924:Fat3	UTSW	9	15,910,593 (GRCm39)	missense	probably damaging	1.00
R7925:Fat3	UTSW	9	15,942,656 (GRCm39)	missense	possibly damaging	0.77
R7954:Fat3	UTSW	9	15,909,708 (GRCm39)	missense	probably damaging	1.00
R8021:Fat3	UTSW	9	15,910,405 (GRCm39)	missense	probably damaging	0.99
R8118:Fat3	UTSW	9	15,871,400 (GRCm39)	missense	probably benign
R8141:Fat3	UTSW	9	15,908,362 (GRCm39)	missense	possibly damaging	0.79
R8163:Fat3	UTSW	9	15,871,055 (GRCm39)	missense	probably damaging	1.00
R8170:Fat3	UTSW	9	15,858,792 (GRCm39)	missense	probably damaging	0.97
R8201:Fat3	UTSW	9	15,908,773 (GRCm39)	missense	possibly damaging	0.93
R8258:Fat3	UTSW	9	15,901,887 (GRCm39)	missense	possibly damaging	0.79
R8259:Fat3	UTSW	9	15,901,887 (GRCm39)	missense	possibly damaging	0.79
R8274:Fat3	UTSW	9	16,288,786 (GRCm39)	nonsense	probably null
R8275:Fat3	UTSW	9	16,158,046 (GRCm39)	missense	probably damaging	1.00
R8345:Fat3	UTSW	9	15,910,570 (GRCm39)	missense	probably benign	0.08
R8350:Fat3	UTSW	9	15,826,435 (GRCm39)	missense
R8405:Fat3	UTSW	9	15,907,167 (GRCm39)	missense	probably damaging	1.00
R8421:Fat3	UTSW	9	15,909,480 (GRCm39)	missense	probably damaging	1.00
R8450:Fat3	UTSW	9	15,826,435 (GRCm39)	missense
R8472:Fat3	UTSW	9	16,286,563 (GRCm39)	missense	possibly damaging	0.90
R8482:Fat3	UTSW	9	16,158,263 (GRCm39)	missense	probably benign	0.02
R8680:Fat3	UTSW	9	15,908,703 (GRCm39)	missense	probably damaging	0.99
R8690:Fat3	UTSW	9	15,878,397 (GRCm39)	missense	probably benign	0.45
R8748:Fat3	UTSW	9	15,834,161 (GRCm39)	missense	possibly damaging	0.70
R8756:Fat3	UTSW	9	16,287,885 (GRCm39)	missense	probably damaging	1.00
R8834:Fat3	UTSW	9	15,942,493 (GRCm39)	missense	probably damaging	1.00
R8848:Fat3	UTSW	9	15,878,398 (GRCm39)	missense	probably damaging	1.00
R8884:Fat3	UTSW	9	15,941,280 (GRCm39)	missense	probably damaging	1.00
R8898:Fat3	UTSW	9	15,858,822 (GRCm39)	missense	probably benign	0.04
R8930:Fat3	UTSW	9	15,910,819 (GRCm39)	missense	probably benign	0.06
R8932:Fat3	UTSW	9	15,910,819 (GRCm39)	missense	probably benign	0.06
R8954:Fat3	UTSW	9	16,287,864 (GRCm39)	missense	probably benign	0.00
R8995:Fat3	UTSW	9	16,286,898 (GRCm39)	missense	probably damaging	1.00
R9000:Fat3	UTSW	9	15,918,095 (GRCm39)	missense	probably benign	0.12
R9000:Fat3	UTSW	9	15,871,816 (GRCm39)	missense	possibly damaging	0.82
R9060:Fat3	UTSW	9	15,910,782 (GRCm39)	missense	possibly damaging	0.80
R9116:Fat3	UTSW	9	15,909,421 (GRCm39)	missense	probably benign	0.34
R9136:Fat3	UTSW	9	15,833,738 (GRCm39)	missense
R9193:Fat3	UTSW	9	15,910,248 (GRCm39)	missense	probably benign
R9235:Fat3	UTSW	9	15,833,674 (GRCm39)	missense	probably null
R9257:Fat3	UTSW	9	15,907,863 (GRCm39)	missense	probably benign
R9297:Fat3	UTSW	9	15,908,996 (GRCm39)	missense	probably damaging	1.00
R9307:Fat3	UTSW	9	15,932,719 (GRCm39)	missense	probably damaging	1.00
R9412:Fat3	UTSW	9	15,908,703 (GRCm39)	missense	probably damaging	0.99
R9427:Fat3	UTSW	9	16,288,691 (GRCm39)	nonsense	probably null
R9430:Fat3	UTSW	9	16,287,381 (GRCm39)	missense	probably damaging	1.00
R9480:Fat3	UTSW	9	15,942,703 (GRCm39)	missense	probably damaging	1.00
R9497:Fat3	UTSW	9	15,903,504 (GRCm39)	missense	probably damaging	0.99
R9547:Fat3	UTSW	9	15,911,142 (GRCm39)	missense	possibly damaging	0.86
R9569:Fat3	UTSW	9	15,830,495 (GRCm39)	missense
R9591:Fat3	UTSW	9	16,288,336 (GRCm39)	missense	probably benign	0.01
R9615:Fat3	UTSW	9	16,289,343 (GRCm39)	missense	probably benign	0.00
R9649:Fat3	UTSW	9	15,908,054 (GRCm39)	missense	possibly damaging	0.57
R9671:Fat3	UTSW	9	16,286,871 (GRCm39)	missense	possibly damaging	0.93
R9750:Fat3	UTSW	9	15,915,157 (GRCm39)	missense	probably benign	0.00
R9777:Fat3	UTSW	9	15,826,537 (GRCm39)	missense	probably benign
RF006:Fat3	UTSW	9	15,909,913 (GRCm39)	missense	probably benign	0.36
X0021:Fat3	UTSW	9	15,941,227 (GRCm39)	missense	probably null	0.66
X0026:Fat3	UTSW	9	15,907,629 (GRCm39)	missense	probably benign
X0064:Fat3	UTSW	9	15,830,573 (GRCm39)	missense	probably benign
Z1176:Fat3	UTSW	9	16,286,913 (GRCm39)	missense	probably benign
Z1176:Fat3	UTSW	9	16,286,725 (GRCm39)	missense	probably damaging	1.00
Z1176:Fat3	UTSW	9	15,858,822 (GRCm39)	missense	probably damaging	0.98
Z1177:Fat3	UTSW	9	15,877,287 (GRCm39)	missense	possibly damaging	0.68
Z1177:Fat3	UTSW	9	15,858,834 (GRCm39)	missense	probably damaging	1.00
Z1177:Fat3	UTSW	9	15,834,322 (GRCm39)	missense	possibly damaging	0.81
Z1177:Fat3	UTSW	9	15,881,131 (GRCm39)	missense	probably damaging	0.99

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to G transversion at position 4343 of the Fat3 transcript in exon 7 of 25 total exons. Two transcripts of the Fat3 gene are displayed on Ensembl. The mutated nucleotide causes a leucine to arginine substitution at amino acid 1446 of the encoded protein (isoform 2). The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Fat3 gene encodes a 4551 amino acid single-pass type I membrane protein that may play a role in the interactions between neurites derived from specific subsets of neurons during development. The protein is restricted to the nervous system and is highly expressed in the olfactory bulb and retina. FAT3 contains 33 cadherin domains, four EGF-like domains and one Laminin G-like domain (Uniprot Q8BNA6). Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.

The L1446R change occurs in the thirteenth cadherin domain in the extracellular region of the protein, and is predicted to be probably damaging by the PolyPhen program.

Posted On

2010-05-03