Mutagenetix > Incidental Mutations

Incidental Mutation 'F6893:Fat3'

196

Institutional Source

Beutler Lab

Gene Symbol

Fat3

Ensembl Gene

ENSMUSG00000074505

Gene Name

FAT atypical cadherin 3

Synonyms

9430076A06Rik, D430038H04Rik, LOC382129, LOC234973

Accession Numbers

Genbank: NM_001080814; MGI: 2444314

Is this an essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

F6893 (G3) of strain busy

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15910189-16501285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 16006789 bp

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]

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: 120,325,038	V1638M	probably damaging	Het
Agrn	C	T	4: 156,174,179	R972Q	probably benign	Het
Anxa3	T	C	5: 96,824,994		probably benign	Het
Bpifa6	G	T	2: 153,987,158	D202Y	probably damaging	Het
Ccdc15	G	A	9: 37,315,640	T346I	probably damaging	Homo
Celsr3	G	A	9: 108,835,067	R1731H	probably benign	Het
Ces4a	A	G	8: 105,147,227	R443G	possibly damaging	Het
Chd2	T	C	7: 73,507,872	Q175R	possibly damaging	Het
Dpyd	T	A	3: 118,804,134		probably null	Het
Dscam	G	T	16: 97,056,460	H117N	possibly damaging	Het
F13a1	A	G	13: 36,972,025	Y205H	probably damaging	Het
Golga4	T	C	9: 118,553,457	L515S	probably damaging	Het
Hoxb1	A	T	11: 96,365,902	T26S	probably benign	Het
Igsf10	T	G	3: 59,331,060	T567P	probably damaging	Het
Lamb2	T	C	9: 108,482,556	V365A	probably benign	Het
Mepe	A	G	5: 104,337,376	I127M	possibly damaging	Het
Mpi	A	T	9: 57,546,549	M230K	probably benign	Homo
Myh4	A	G	11: 67,255,457	D1447G	probably null	Homo
Olfr161	A	G	16: 3,593,163	I256V	possibly damaging	Het
Olfr350	A	G	2: 36,850,807	T254A	probably benign	Het
Panx2	T	C	15: 89,068,010	Y227H	probably damaging	Homo
Pdzd7	A	G	19: 45,036,734	W441R	probably damaging	Het
Poldip2	A	G	11: 78,519,194	I267M	probably damaging	Homo
Pros1	T	A	16: 62,924,639	V539E	probably damaging	Het
Sacs	T	C	14: 61,212,976	M4157T	probably benign	Het
Slc45a3	A	G	1: 131,981,337	E424G	probably benign	Homo
Slc9a1	A	G	4: 133,422,146	E761G	probably benign	Homo
Stab2	G	A	10: 86,855,171	P2178L	probably damaging	Het
Syt4	C	T	18: 31,444,221	V27I	possibly damaging	Homo
Thumpd1	T	A	7: 119,720,576	K56*	probably null	Het
Tpr	A	G	1: 150,393,562	K19E	possibly damaging	Homo
Ttll10	A	G	4: 156,048,318	I74T	probably benign	Het
Txnrd1	C	T	10: 82,866,989	Q95*	probably null	Homo
Zc3h7b	A	G	15: 81,778,671	E421G	possibly damaging	Homo
Zc3hc1	G	T	6: 30,387,526	D51E	probably benign	Homo

Other mutations in Fat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Fat3	APN	9	15996427	missense	possibly damaging	0.77
IGL00962:Fat3	APN	9	15915519	missense	probably benign	0.14
IGL00966:Fat3	APN	9	15999094	missense	possibly damaging	0.69
IGL01100:Fat3	APN	9	16375228	missense	probably damaging	1.00
IGL01104:Fat3	APN	9	16375728	missense	possibly damaging	0.92
IGL01104:Fat3	APN	9	15998460	missense	probably damaging	1.00
IGL01121:Fat3	APN	9	15998401	missense	probably benign	0.00
IGL01407:Fat3	APN	9	16378023	missense	probably benign	0.01
IGL01444:Fat3	APN	9	15998848	missense	probably damaging	1.00
IGL01634:Fat3	APN	9	15998358	missense	probably damaging	1.00
IGL01649:Fat3	APN	9	16376719	missense	possibly damaging	0.95
IGL01839:Fat3	APN	9	15997872	missense	probably damaging	1.00
IGL01867:Fat3	APN	9	16377901	missense	probably benign	0.03
IGL01894:Fat3	APN	9	16375849	missense	probably benign
IGL01913:Fat3	APN	9	15998790	missense	probably damaging	0.99
IGL02033:Fat3	APN	9	15915352	missense	possibly damaging	0.50
IGL02035:Fat3	APN	9	16377970	missense	probably benign	0.06
IGL02146:Fat3	APN	9	15999582	missense	probably benign
IGL02147:Fat3	APN	9	15995985	missense	probably damaging	1.00
IGL02161:Fat3	APN	9	15997050	missense	probably benign	0.10
IGL02161:Fat3	APN	9	15997051	nonsense	probably null
IGL02164:Fat3	APN	9	16031424	splice site	probably benign
IGL02269:Fat3	APN	9	15915577	missense	possibly damaging	0.84
IGL02314:Fat3	APN	9	15969838	missense	possibly damaging	0.61
IGL02393:Fat3	APN	9	15988412	nonsense	probably null
IGL02410:Fat3	APN	9	15997845	missense	probably damaging	1.00
IGL02504:Fat3	APN	9	15959798	missense	probably damaging	1.00
IGL02572:Fat3	APN	9	15960506	missense	probably benign
IGL02623:Fat3	APN	9	15997137	missense	probably damaging	1.00
IGL02654:Fat3	APN	9	15996975	missense	possibly damaging	0.84
IGL02749:Fat3	APN	9	16006711	missense	possibly damaging	0.93
IGL02810:Fat3	APN	9	16376850	missense	probably damaging	1.00
IGL02839:Fat3	APN	9	15919170	missense	probably damaging	1.00
IGL02890:Fat3	APN	9	15915340	missense	probably benign	0.03
IGL02892:Fat3	APN	9	16377562	missense	probably damaging	1.00
IGL03090:Fat3	APN	9	16377239	nonsense	probably null
IGL03144:Fat3	APN	9	16375245	missense	probably damaging	1.00
IGL03199:Fat3	APN	9	16377048	missense	possibly damaging	0.83
IGL03365:Fat3	APN	9	15996469	missense	probably damaging	1.00
IGL03392:Fat3	APN	9	16003862	missense	probably benign
IGL03408:Fat3	APN	9	15997957	nonsense	probably null
gagged	UTSW	9	15998271	missense	probably damaging	1.00
Muffled	UTSW	9	15937991	critical splice donor site	probably null
Softened	UTSW	9	16378185	missense	probably benign
IGL03050:Fat3	UTSW	9	15996600	missense	probably benign	0.04
PIT4142001:Fat3	UTSW	9	15992118	critical splice donor site	probably null
PIT4283001:Fat3	UTSW	9	16006601	missense	possibly damaging	0.77
PIT4378001:Fat3	UTSW	9	16376808	missense	probably benign	0.05
PIT4434001:Fat3	UTSW	9	15996316	missense	probably benign	0.00
PIT4468001:Fat3	UTSW	9	15996351	missense	probably benign	0.06
R0001:Fat3	UTSW	9	16377873	missense	probably damaging	0.99
R0005:Fat3	UTSW	9	15962866	missense	probably damaging	1.00
R0005:Fat3	UTSW	9	15962866	missense	probably damaging	1.00
R0038:Fat3	UTSW	9	15915010	missense	probably damaging	1.00
R0046:Fat3	UTSW	9	15965979	missense	possibly damaging	0.65
R0089:Fat3	UTSW	9	15938205	missense	probably benign
R0135:Fat3	UTSW	9	16006777	missense	probably damaging	1.00
R0255:Fat3	UTSW	9	15969706	splice site	probably benign
R0349:Fat3	UTSW	9	16031180	missense	probably damaging	1.00
R0361:Fat3	UTSW	9	15998403	missense	possibly damaging	0.77
R0382:Fat3	UTSW	9	15959756	missense	probably damaging	1.00
R0418:Fat3	UTSW	9	16246896	missense	probably damaging	1.00
R0419:Fat3	UTSW	9	15992256	missense	probably damaging	1.00
R0437:Fat3	UTSW	9	15996932	missense	probably damaging	1.00
R0441:Fat3	UTSW	9	15945008	splice site	probably benign
R0480:Fat3	UTSW	9	15997729	missense	probably benign	0.00
R0510:Fat3	UTSW	9	15999685	nonsense	probably null
R0665:Fat3	UTSW	9	15997402	missense	probably benign
R0715:Fat3	UTSW	9	16375123	missense	probably benign
R0727:Fat3	UTSW	9	15996699	missense	probably damaging	1.00
R0882:Fat3	UTSW	9	16031368	missense	possibly damaging	0.84
R0946:Fat3	UTSW	9	15997804	missense	possibly damaging	0.95
R1068:Fat3	UTSW	9	15970034	missense	probably benign
R1081:Fat3	UTSW	9	16375284	missense	possibly damaging	0.62
R1082:Fat3	UTSW	9	16006615	missense	probably damaging	1.00
R1148:Fat3	UTSW	9	15996774	missense	probably damaging	1.00
R1148:Fat3	UTSW	9	15996774	missense	probably damaging	1.00
R1233:Fat3	UTSW	9	15922745	missense	probably benign
R1306:Fat3	UTSW	9	16376679	missense	probably damaging	1.00
R1311:Fat3	UTSW	9	16021410	missense	probably damaging	1.00
R1338:Fat3	UTSW	9	15925091	missense	probably benign	0.00
R1395:Fat3	UTSW	9	16246916	missense	probably benign	0.00
R1466:Fat3	UTSW	9	16375482	missense	probably damaging	0.96
R1466:Fat3	UTSW	9	16375482	missense	probably damaging	0.96
R1510:Fat3	UTSW	9	15960055	missense	probably damaging	1.00
R1528:Fat3	UTSW	9	15925091	missense	probably benign	0.00
R1531:Fat3	UTSW	9	15997465	missense	probably damaging	1.00
R1659:Fat3	UTSW	9	15997183	missense	possibly damaging	0.91
R1697:Fat3	UTSW	9	15944880	missense	probably benign	0.05
R1699:Fat3	UTSW	9	15938398	missense	probably damaging	1.00
R1728:Fat3	UTSW	9	15996315	missense	possibly damaging	0.65
R1729:Fat3	UTSW	9	15996315	missense	possibly damaging	0.65
R1731:Fat3	UTSW	9	15995937	missense	probably benign
R1784:Fat3	UTSW	9	15996315	missense	possibly damaging	0.65
R1789:Fat3	UTSW	9	16376985	missense	probably benign	0.00
R1794:Fat3	UTSW	9	15997136	nonsense	probably null
R1794:Fat3	UTSW	9	15997138	missense	probably benign	0.15
R1830:Fat3	UTSW	9	15915340	missense	probably benign	0.03
R1835:Fat3	UTSW	9	15998088	missense	probably damaging	1.00
R1887:Fat3	UTSW	9	15967061	missense	probably damaging	1.00
R1898:Fat3	UTSW	9	15960130	missense	probably damaging	1.00
R1909:Fat3	UTSW	9	15998115	missense	probably benign
R1912:Fat3	UTSW	9	15969988	missense	probably damaging	1.00
R1917:Fat3	UTSW	9	15997057	missense	possibly damaging	0.55
R1967:Fat3	UTSW	9	15968295	missense	probably benign	0.00
R2070:Fat3	UTSW	9	15999370	missense	probably benign	0.21
R2100:Fat3	UTSW	9	16377430	missense	possibly damaging	0.73
R2104:Fat3	UTSW	9	15998517	missense	possibly damaging	0.77
R2113:Fat3	UTSW	9	15999786	missense	probably damaging	1.00
R2132:Fat3	UTSW	9	16246719	critical splice donor site	probably null
R2136:Fat3	UTSW	9	16377051	missense	probably benign	0.01
R2146:Fat3	UTSW	9	15990512	missense	probably benign	0.01
R2233:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2234:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2273:Fat3	UTSW	9	15915262	missense	probably benign
R2285:Fat3	UTSW	9	16376173	missense	probably damaging	1.00
R2363:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2365:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2367:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2403:Fat3	UTSW	9	15969871	missense	probably damaging	1.00
R2447:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2496:Fat3	UTSW	9	15966103	missense	probably benign	0.01
R2509:Fat3	UTSW	9	15925014	missense	possibly damaging	0.82
R2932:Fat3	UTSW	9	16375944	missense	probably damaging	1.00
R2986:Fat3	UTSW	9	15992128	missense	probably damaging	1.00
R3054:Fat3	UTSW	9	15960496	missense	probably benign
R3056:Fat3	UTSW	9	15960496	missense	probably benign
R3729:Fat3	UTSW	9	16247041	splice site	probably benign
R3745:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3806:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3859:Fat3	UTSW	9	15997228	nonsense	probably null
R3862:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3890:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3892:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3950:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3972:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4004:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4005:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4086:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4111:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4113:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4227:Fat3	UTSW	9	16377693	missense	probably damaging	1.00
R4352:Fat3	UTSW	9	16246778	missense	possibly damaging	0.55
R4394:Fat3	UTSW	9	15922792	missense	probably benign	0.11
R4403:Fat3	UTSW	9	15944873	missense	probably damaging	1.00
R4433:Fat3	UTSW	9	16031152	missense	probably damaging	0.99
R4453:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4479:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4480:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4521:Fat3	UTSW	9	15922942	missense	probably null	0.71
R4620:Fat3	UTSW	9	15996894	missense	probably damaging	1.00
R4700:Fat3	UTSW	9	16031173	missense	probably damaging	1.00
R4721:Fat3	UTSW	9	16029966	missense	probably damaging	1.00
R4790:Fat3	UTSW	9	15998484	missense	probably damaging	1.00
R4796:Fat3	UTSW	9	15999732	missense	probably benign	0.17
R4823:Fat3	UTSW	9	15996507	missense	probably benign
R4836:Fat3	UTSW	9	16377723	missense	probably damaging	1.00
R4842:Fat3	UTSW	9	15997587	missense	probably damaging	1.00
R4849:Fat3	UTSW	9	16377948	missense	probably benign	0.03
R4856:Fat3	UTSW	9	16021330	missense	probably benign
R4869:Fat3	UTSW	9	16377477	missense	probably damaging	0.98
R4886:Fat3	UTSW	9	16021330	missense	probably benign
R4899:Fat3	UTSW	9	15969799	missense	probably damaging	1.00
R4941:Fat3	UTSW	9	16375152	missense	probably damaging	1.00
R4986:Fat3	UTSW	9	15998340	missense	probably damaging	1.00
R5058:Fat3	UTSW	9	15996858	missense	probably damaging	1.00
R5079:Fat3	UTSW	9	15999127	missense	probably benign	0.01
R5080:Fat3	UTSW	9	15999338	missense	probably benign	0.35
R5174:Fat3	UTSW	9	15999570	missense	probably damaging	1.00
R5183:Fat3	UTSW	9	15960313	missense	probably damaging	0.99
R5203:Fat3	UTSW	9	16378142	missense	possibly damaging	0.79
R5216:Fat3	UTSW	9	16377537	missense	probably damaging	1.00
R5230:Fat3	UTSW	9	15990560	missense	possibly damaging	0.51
R5318:Fat3	UTSW	9	16376629	missense	probably damaging	1.00
R5377:Fat3	UTSW	9	16376443	missense	probably benign	0.05
R5385:Fat3	UTSW	9	15922675	missense	possibly damaging	0.82
R5436:Fat3	UTSW	9	15960514	missense	probably benign	0.02
R5437:Fat3	UTSW	9	16085308	missense	probably damaging	1.00
R5453:Fat3	UTSW	9	15996864	missense	probably damaging	1.00
R5460:Fat3	UTSW	9	15919167	missense	probably damaging	1.00
R5516:Fat3	UTSW	9	15998709	missense	probably damaging	1.00
R5568:Fat3	UTSW	9	16376923	nonsense	probably null
R5628:Fat3	UTSW	9	15966096	missense	probably damaging	1.00
R5835:Fat3	UTSW	9	16375833	missense	probably damaging	1.00
R5845:Fat3	UTSW	9	16377210	missense	probably damaging	1.00
R5898:Fat3	UTSW	9	15938461	missense	probably benign	0.15
R5941:Fat3	UTSW	9	15999501	missense	probably benign	0.07
R5974:Fat3	UTSW	9	16006528	critical splice donor site	probably null
R5986:Fat3	UTSW	9	15998317	missense	probably benign	0.22
R6015:Fat3	UTSW	9	16376050	missense	possibly damaging	0.55
R6031:Fat3	UTSW	9	15988492	missense	probably benign	0.02
R6031:Fat3	UTSW	9	15988492	missense	probably benign	0.02
R6042:Fat3	UTSW	9	16377817	missense	probably benign	0.12
R6051:Fat3	UTSW	9	16375455	missense	possibly damaging	0.83
R6052:Fat3	UTSW	9	15922679	missense	probably null
R6119:Fat3	UTSW	9	16376568	missense	possibly damaging	0.82
R6161:Fat3	UTSW	9	16377522	missense	probably damaging	1.00
R6254:Fat3	UTSW	9	15996145	missense	probably benign	0.19
R6318:Fat3	UTSW	9	15916984	intron	probably benign
R6347:Fat3	UTSW	9	15998372	missense	probably damaging	1.00
R6348:Fat3	UTSW	9	15937991	critical splice donor site	probably null
R6351:Fat3	UTSW	9	15938398	missense	probably damaging	1.00
R6450:Fat3	UTSW	9	15999170	missense	possibly damaging	0.51
R6460:Fat3	UTSW	9	15967000	missense	probably damaging	1.00
R6524:Fat3	UTSW	9	15992256	missense	probably damaging	1.00
R6533:Fat3	UTSW	9	15998899	missense	probably benign	0.02
R6565:Fat3	UTSW	9	15915327	missense	probably benign
R6576:Fat3	UTSW	9	16377210	missense	probably damaging	1.00
R6649:Fat3	UTSW	9	16376742	missense	probably damaging	1.00
R6716:Fat3	UTSW	9	15919269	missense	probably benign
R6719:Fat3	UTSW	9	15996144	missense	probably benign
R6753:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6754:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6755:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6792:Fat3	UTSW	9	16375644	missense	probably damaging	1.00
R6802:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6803:Fat3	UTSW	9	15996787	missense	probably damaging	0.99
R6831:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6831:Fat3	UTSW	9	16376551	missense	probably damaging	0.98
R6833:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6877:Fat3	UTSW	9	15999268	missense	probably benign
R6894:Fat3	UTSW	9	15997776	missense	probably damaging	1.00
R6915:Fat3	UTSW	9	16377748	missense	probably benign	0.37
R6931:Fat3	UTSW	9	15959942	missense	possibly damaging	0.89
R6934:Fat3	UTSW	9	16376956	missense	probably damaging	0.98
R6940:Fat3	UTSW	9	15916800	intron	probably null
R6959:Fat3	UTSW	9	15996885	missense	possibly damaging	0.91
R6969:Fat3	UTSW	9	16029916	missense	probably benign	0.29
R6986:Fat3	UTSW	9	16021335	missense	probably damaging	1.00
R6993:Fat3	UTSW	9	15919221	missense	probably damaging	1.00
R7039:Fat3	UTSW	9	16376265	missense	probably damaging	1.00
R7051:Fat3	UTSW	9	16377827	missense	probably damaging	1.00
R7089:Fat3	UTSW	9	15996918	missense	probably benign	0.01
R7136:Fat3	UTSW	9	16378185	missense	probably benign
R7137:Fat3	UTSW	9	15997148	missense	probably damaging	1.00
R7154:Fat3	UTSW	9	15996864	missense	probably damaging	1.00
R7170:Fat3	UTSW	9	16006574	missense	probably damaging	0.99
R7183:Fat3	UTSW	9	15922837	missense	possibly damaging	0.81
R7237:Fat3	UTSW	9	16377214	missense	probably damaging	1.00
R7288:Fat3	UTSW	9	15998592	missense	probably damaging	1.00
R7293:Fat3	UTSW	9	15915040	missense
R7293:Fat3	UTSW	9	15915296	missense
R7381:Fat3	UTSW	9	16246987	missense	probably damaging	1.00
R7438:Fat3	UTSW	9	15988482	missense	probably benign
R7537:Fat3	UTSW	9	15938319	missense	probably damaging	1.00
R7560:Fat3	UTSW	9	15996842	missense	probably damaging	1.00
R7585:Fat3	UTSW	9	15998262	missense	probably benign	0.03
R7623:Fat3	UTSW	9	15988324	missense	probably damaging	1.00
R7624:Fat3	UTSW	9	15959869	missense	possibly damaging	0.72
R7684:Fat3	UTSW	9	15988268	critical splice donor site	probably null
R7690:Fat3	UTSW	9	15998181	missense	probably damaging	1.00
X0021:Fat3	UTSW	9	16029931	missense	probably null	0.66
X0026:Fat3	UTSW	9	15996333	missense	probably benign
X0064:Fat3	UTSW	9	15919277	missense	probably benign

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