Mutagenetix > Incidental Mutation

Incidental Mutation 'I2289:Fat1'

601

Institutional Source

Beutler Lab

Gene Symbol

Fat1

Ensembl Gene

ENSMUSG00000070047

Gene Name

FAT atypical cadherin 1

Synonyms

2310038E12Rik, mFat1, Fath

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

I2289 (G3) of strain 633

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45388484-45505294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45478033 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Isoleucine to Valine at position 2360 (I2360V)

Ref Sequence

ENSEMBL: ENSMUSP00000149194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098796] [ENSMUST00000189017] [ENSMUST00000191428] [ENSMUST00000215588]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098796
AA Change: I2337V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096394
Gene: ENSMUSG00000070047
AA Change: I2337V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	62	148	3.05e-6	SMART
CA	172	256	3.29e-20	SMART
Blast:CA	277	382	5e-47	BLAST
CA	387	462	2.13e-5	SMART
CA	486	568	8.35e-22	SMART
CA	592	670	2.11e-2	SMART
CA	740	821	5.09e-26	SMART
CA	845	926	6.27e-26	SMART
CA	950	1031	4.07e-25	SMART
CA	1057	1138	5.13e-31	SMART
CA	1162	1244	8.79e-30	SMART
CA	1276	1351	2.06e-3	SMART
CA	1379	1456	1.63e-15	SMART
CA	1480	1562	3.29e-20	SMART
CA	1586	1667	2.34e-16	SMART
CA	1691	1765	1.16e-20	SMART
CA	1796	1879	6.27e-26	SMART
CA	1903	1979	1.47e-8	SMART
CA	2003	2081	2.65e-15	SMART
CA	2105	2181	2.14e-10	SMART
CA	2203	2283	9.82e-19	SMART
CA	2307	2390	7.54e-29	SMART
CA	2414	2492	3.29e-11	SMART
CA	2516	2596	6.48e-19	SMART
CA	2620	2703	3.48e-10	SMART
CA	2719	2809	2.26e-9	SMART
CA	2833	2918	8.08e-29	SMART
CA	2942	3023	5.99e-23	SMART
CA	3047	3125	2.63e-28	SMART
CA	3149	3230	2.79e-32	SMART
CA	3254	3335	5.25e-28	SMART
CA	3359	3440	4.46e-31	SMART
CA	3464	3545	1.25e-11	SMART
CA	3569	3641	5.67e-2	SMART
LamG	3853	3987	6.51e-36	SMART
EGF	4018	4052	8.57e-5	SMART
EGF	4057	4090	3.94e-4	SMART
EGF	4094	4127	4.29e-5	SMART
EGF_CA	4129	4165	1.81e-12	SMART
transmembrane domain	4182	4204	N/A	INTRINSIC
low complexity region	4308	4324	N/A	INTRINSIC
low complexity region	4436	4457	N/A	INTRINSIC
low complexity region	4472	4483	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180753

Predicted Effect

unknown
Transcript: ENSMUST00000189017
AA Change: I2337V

Predicted Effect

probably benign
Transcript: ENSMUST00000191428
AA Change: I2337V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140596
Gene: ENSMUSG00000070047
AA Change: I2337V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	62	148	3.05e-6	SMART
CA	172	256	3.29e-20	SMART
Blast:CA	277	382	5e-47	BLAST
CA	387	462	2.13e-5	SMART
CA	486	568	8.35e-22	SMART
CA	592	670	2.11e-2	SMART
CA	740	821	5.09e-26	SMART
CA	845	926	6.27e-26	SMART
CA	950	1031	4.07e-25	SMART
CA	1057	1138	5.13e-31	SMART
CA	1162	1244	8.79e-30	SMART
CA	1276	1351	2.06e-3	SMART
CA	1379	1456	1.63e-15	SMART
CA	1480	1562	3.29e-20	SMART
CA	1586	1667	2.34e-16	SMART
CA	1691	1765	1.16e-20	SMART
CA	1796	1879	6.27e-26	SMART
CA	1903	1979	1.47e-8	SMART
CA	2003	2081	2.65e-15	SMART
CA	2105	2181	2.14e-10	SMART
CA	2203	2283	9.82e-19	SMART
CA	2307	2390	7.54e-29	SMART
CA	2414	2492	3.29e-11	SMART
CA	2516	2596	6.48e-19	SMART
CA	2620	2703	3.48e-10	SMART
CA	2719	2809	2.26e-9	SMART
CA	2833	2918	8.08e-29	SMART
CA	2942	3023	5.99e-23	SMART
CA	3047	3125	2.63e-28	SMART
CA	3149	3230	2.79e-32	SMART
CA	3254	3335	5.25e-28	SMART
CA	3359	3440	4.46e-31	SMART
CA	3464	3545	1.25e-11	SMART
CA	3569	3641	5.67e-2	SMART
LamG	3853	3987	6.51e-36	SMART
EGF	4018	4052	8.57e-5	SMART
EGF	4057	4090	3.94e-4	SMART
EGF	4094	4127	4.29e-5	SMART
EGF_CA	4129	4165	1.81e-12	SMART
transmembrane domain	4182	4204	N/A	INTRINSIC
low complexity region	4308	4324	N/A	INTRINSIC
low complexity region	4436	4457	N/A	INTRINSIC
low complexity region	4472	4483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215588
AA Change: I2360V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 87.8%
3x: 75.8%

Het Detection Efficiency

55.8%

Validation Efficiency

88% (46/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects and perinatal lethality. Mice homozygous for a hypomorphic allele exhibit altered shoulder girdle and facial musculature, retinal defects, abnormal inner earpatterning and kidney defects. [provided by MGI curators]

Allele List at MGI

All alleles(56) : Targeted, other(1) Gene trapped(55)

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,071,894 (GRCm39)	L146Q	probably benign	Homo
Adgrv1	A	G	13: 81,585,643 (GRCm39)	L4607P	probably damaging	Het
Amelx	A	G	X: 167,961,009 (GRCm39)		probably null	Homo
Ankfy1	A	G	11: 72,621,311 (GRCm39)	K199R	probably benign	Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Bank1	T	A	3: 135,760,179 (GRCm39)	D782V	probably damaging	Homo
Csmd1	A	T	8: 15,962,381 (GRCm39)	I3271K	probably benign	Homo
Gldc	G	A	19: 30,124,576 (GRCm39)	R241*	probably null	Het
Golgb1	A	G	16: 36,718,904 (GRCm39)	H270R	probably benign	Het
Heg1	T	C	16: 33,583,829 (GRCm39)	I1212T	probably damaging	Het
Hes1	T	A	16: 29,884,699 (GRCm39)	S53R	probably damaging	Het
Ibsp	G	A	5: 104,450,353 (GRCm39)	R57Q	possibly damaging	Homo
Lrp1b	A	T	2: 41,012,944 (GRCm39)	I2001K	probably damaging	Het
Nf1	G	A	11: 79,438,602 (GRCm39)	R2181H	probably damaging	Het
Nrcam	C	A	12: 44,611,098 (GRCm39)	H567Q	probably benign	Homo
Or51a10	T	C	7: 103,698,961 (GRCm39)	Y200C	probably damaging	Homo
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Rraga	T	C	4: 86,494,522 (GRCm39)	F123L	probably damaging	Het
Spam1	A	G	6: 24,796,477 (GRCm39)	I143V	probably benign	Het
Synj2	A	G	17: 6,072,542 (GRCm39)		probably benign	Homo
T	A	T	17: 8,657,474 (GRCm39)	T112S	probably benign	Homo

Other mutations in Fat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fat1	APN	8	45,477,639 (GRCm39)	missense	possibly damaging	0.93
IGL00157:Fat1	APN	8	45,404,707 (GRCm39)	missense	possibly damaging	0.96
IGL00481:Fat1	APN	8	45,503,977 (GRCm39)	missense	probably benign	0.18
IGL00983:Fat1	APN	8	45,486,427 (GRCm39)	missense	probably damaging	1.00
IGL01089:Fat1	APN	8	45,470,894 (GRCm39)	missense	probably damaging	1.00
IGL01135:Fat1	APN	8	45,477,877 (GRCm39)	missense	probably damaging	1.00
IGL01143:Fat1	APN	8	45,488,569 (GRCm39)	missense	possibly damaging	0.72
IGL01155:Fat1	APN	8	45,476,986 (GRCm39)	missense	probably damaging	1.00
IGL01376:Fat1	APN	8	45,479,878 (GRCm39)	missense	probably benign	0.00
IGL01411:Fat1	APN	8	45,479,837 (GRCm39)	missense	probably damaging	1.00
IGL01443:Fat1	APN	8	45,493,613 (GRCm39)	missense	probably damaging	1.00
IGL01453:Fat1	APN	8	45,504,307 (GRCm39)	missense	probably damaging	1.00
IGL01606:Fat1	APN	8	45,476,086 (GRCm39)	missense	probably benign	0.26
IGL01622:Fat1	APN	8	45,482,592 (GRCm39)	missense	possibly damaging	0.64
IGL01623:Fat1	APN	8	45,482,592 (GRCm39)	missense	possibly damaging	0.64
IGL01672:Fat1	APN	8	45,493,737 (GRCm39)	missense	probably benign	0.05
IGL01735:Fat1	APN	8	45,489,276 (GRCm39)	missense	probably benign	0.07
IGL01793:Fat1	APN	8	45,442,149 (GRCm39)	missense	probably benign
IGL01820:Fat1	APN	8	45,463,539 (GRCm39)	missense	probably damaging	1.00
IGL01969:Fat1	APN	8	45,405,636 (GRCm39)	missense	probably damaging	0.98
IGL02012:Fat1	APN	8	45,480,577 (GRCm39)	missense	possibly damaging	0.95
IGL02227:Fat1	APN	8	45,476,696 (GRCm39)	missense	probably damaging	1.00
IGL02256:Fat1	APN	8	45,403,369 (GRCm39)	missense	probably damaging	1.00
IGL02273:Fat1	APN	8	45,403,368 (GRCm39)	missense	probably damaging	1.00
IGL02317:Fat1	APN	8	45,478,855 (GRCm39)	missense	probably benign	0.33
IGL02324:Fat1	APN	8	45,493,593 (GRCm39)	missense	probably damaging	1.00
IGL02336:Fat1	APN	8	45,404,620 (GRCm39)	missense	probably benign	0.16
IGL02442:Fat1	APN	8	45,403,360 (GRCm39)	missense	probably benign	0.02
IGL02486:Fat1	APN	8	45,478,109 (GRCm39)	missense	probably benign	0.16
IGL02551:Fat1	APN	8	45,504,435 (GRCm39)	missense	probably damaging	1.00
IGL02617:Fat1	APN	8	45,488,628 (GRCm39)	missense	probably benign	0.31
IGL02698:Fat1	APN	8	45,476,201 (GRCm39)	missense	probably benign
IGL02885:Fat1	APN	8	45,442,204 (GRCm39)	missense	probably benign	0.01
IGL02904:Fat1	APN	8	45,493,719 (GRCm39)	missense	probably damaging	1.00
IGL02953:Fat1	APN	8	45,477,351 (GRCm39)	missense	probably damaging	1.00
IGL03108:Fat1	APN	8	45,476,651 (GRCm39)	missense	probably damaging	1.00
IGL03153:Fat1	APN	8	45,483,160 (GRCm39)	missense	possibly damaging	0.83
IGL03183:Fat1	APN	8	45,403,623 (GRCm39)	missense	probably damaging	0.99
IGL03327:Fat1	APN	8	45,403,505 (GRCm39)	missense	probably damaging	1.00
IGL03405:Fat1	APN	8	45,478,278 (GRCm39)	missense	probably damaging	1.00
Laggardly	UTSW	8	45,497,501 (GRCm39)	missense	probably damaging	1.00
R2257_fat1_465	UTSW	8	45,403,408 (GRCm39)	missense	probably damaging	1.00
Shrinkage	UTSW	8	45,471,074 (GRCm39)	missense	probably damaging	1.00
F5493:Fat1	UTSW	8	45,478,517 (GRCm39)	missense	probably damaging	0.99
G1citation:Fat1	UTSW	8	45,479,441 (GRCm39)	missense	probably damaging	1.00
IGL02837:Fat1	UTSW	8	45,470,471 (GRCm39)	missense	probably benign	0.00
PIT4283001:Fat1	UTSW	8	45,490,244 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Fat1	UTSW	8	45,482,577 (GRCm39)	missense	probably damaging	1.00
PIT4576001:Fat1	UTSW	8	45,477,682 (GRCm39)	missense	probably damaging	1.00
R0040:Fat1	UTSW	8	45,479,441 (GRCm39)	missense	probably damaging	1.00
R0040:Fat1	UTSW	8	45,479,441 (GRCm39)	missense	probably damaging	1.00
R0078:Fat1	UTSW	8	45,406,336 (GRCm39)	missense	probably damaging	1.00
R0197:Fat1	UTSW	8	45,479,590 (GRCm39)	missense	probably benign	0.00
R0328:Fat1	UTSW	8	45,476,827 (GRCm39)	missense	probably benign	0.35
R0367:Fat1	UTSW	8	45,477,350 (GRCm39)	missense	probably damaging	1.00
R0371:Fat1	UTSW	8	45,404,929 (GRCm39)	missense	probably damaging	1.00
R0380:Fat1	UTSW	8	45,463,160 (GRCm39)	missense	probably damaging	0.97
R0389:Fat1	UTSW	8	45,403,385 (GRCm39)	missense	probably benign	0.00
R0433:Fat1	UTSW	8	45,477,686 (GRCm39)	missense	possibly damaging	0.51
R0456:Fat1	UTSW	8	45,482,571 (GRCm39)	missense	probably damaging	1.00
R0494:Fat1	UTSW	8	45,403,579 (GRCm39)	missense	probably damaging	1.00
R0506:Fat1	UTSW	8	45,475,988 (GRCm39)	missense	probably damaging	0.99
R0512:Fat1	UTSW	8	45,404,369 (GRCm39)	nonsense	probably null
R0624:Fat1	UTSW	8	45,504,205 (GRCm39)	missense	possibly damaging	0.46
R0701:Fat1	UTSW	8	45,479,590 (GRCm39)	missense	probably benign	0.00
R0723:Fat1	UTSW	8	45,479,786 (GRCm39)	missense	probably damaging	1.00
R0787:Fat1	UTSW	8	45,493,592 (GRCm39)	missense	probably damaging	1.00
R0788:Fat1	UTSW	8	45,477,020 (GRCm39)	missense	probably benign	0.27
R0862:Fat1	UTSW	8	45,471,074 (GRCm39)	missense	probably damaging	1.00
R0864:Fat1	UTSW	8	45,471,074 (GRCm39)	missense	probably damaging	1.00
R0907:Fat1	UTSW	8	45,479,635 (GRCm39)	missense	probably benign	0.08
R0962:Fat1	UTSW	8	45,486,363 (GRCm39)	splice site	probably benign
R1051:Fat1	UTSW	8	45,497,543 (GRCm39)	missense	probably damaging	1.00
R1156:Fat1	UTSW	8	45,492,927 (GRCm39)	missense	possibly damaging	0.94
R1237:Fat1	UTSW	8	45,497,316 (GRCm39)	missense	probably damaging	1.00
R1468:Fat1	UTSW	8	45,463,582 (GRCm39)	missense	probably damaging	1.00
R1468:Fat1	UTSW	8	45,463,582 (GRCm39)	missense	probably damaging	1.00
R1478:Fat1	UTSW	8	45,478,659 (GRCm39)	missense	probably damaging	0.99
R1482:Fat1	UTSW	8	45,406,281 (GRCm39)	missense	probably benign	0.04
R1496:Fat1	UTSW	8	45,486,427 (GRCm39)	missense	probably damaging	1.00
R1498:Fat1	UTSW	8	45,478,521 (GRCm39)	nonsense	probably null
R1508:Fat1	UTSW	8	45,479,899 (GRCm39)	missense	probably benign	0.01
R1577:Fat1	UTSW	8	45,476,420 (GRCm39)	missense	probably benign	0.30
R1646:Fat1	UTSW	8	45,471,079 (GRCm39)	missense	probably damaging	1.00
R1652:Fat1	UTSW	8	45,478,215 (GRCm39)	nonsense	probably null
R1656:Fat1	UTSW	8	45,478,567 (GRCm39)	nonsense	probably null
R1662:Fat1	UTSW	8	45,406,201 (GRCm39)	missense	probably benign	0.20
R1672:Fat1	UTSW	8	45,489,872 (GRCm39)	missense	probably damaging	1.00
R1704:Fat1	UTSW	8	45,478,613 (GRCm39)	missense	probably damaging	1.00
R1708:Fat1	UTSW	8	45,477,829 (GRCm39)	missense	probably damaging	1.00
R1710:Fat1	UTSW	8	45,463,519 (GRCm39)	missense	probably benign	0.00
R1812:Fat1	UTSW	8	45,489,840 (GRCm39)	missense	probably damaging	1.00
R1872:Fat1	UTSW	8	45,491,386 (GRCm39)	missense	probably damaging	1.00
R1872:Fat1	UTSW	8	45,406,341 (GRCm39)	missense	probably benign	0.01
R1883:Fat1	UTSW	8	45,504,184 (GRCm39)	missense	probably benign	0.17
R1893:Fat1	UTSW	8	45,476,893 (GRCm39)	missense	probably damaging	1.00
R1930:Fat1	UTSW	8	45,497,265 (GRCm39)	missense	possibly damaging	0.91
R1931:Fat1	UTSW	8	45,497,265 (GRCm39)	missense	possibly damaging	0.91
R1952:Fat1	UTSW	8	45,486,963 (GRCm39)	missense	probably benign	0.00
R1957:Fat1	UTSW	8	45,493,719 (GRCm39)	missense	probably damaging	1.00
R1999:Fat1	UTSW	8	45,405,430 (GRCm39)	missense	probably damaging	0.96
R2019:Fat1	UTSW	8	45,476,783 (GRCm39)	missense	probably damaging	1.00
R2062:Fat1	UTSW	8	45,477,369 (GRCm39)	missense	probably damaging	1.00
R2062:Fat1	UTSW	8	45,479,741 (GRCm39)	missense	probably damaging	1.00
R2117:Fat1	UTSW	8	45,490,500 (GRCm39)	missense	probably benign	0.33
R2196:Fat1	UTSW	8	45,477,683 (GRCm39)	missense	probably damaging	1.00
R2204:Fat1	UTSW	8	45,476,737 (GRCm39)	missense	probably damaging	1.00
R2256:Fat1	UTSW	8	45,403,408 (GRCm39)	missense	probably damaging	1.00
R2257:Fat1	UTSW	8	45,403,408 (GRCm39)	missense	probably damaging	1.00
R2409:Fat1	UTSW	8	45,493,567 (GRCm39)	splice site	probably benign
R2416:Fat1	UTSW	8	45,479,420 (GRCm39)	missense	probably damaging	1.00
R3021:Fat1	UTSW	8	45,497,048 (GRCm39)	missense	probably damaging	1.00
R3108:Fat1	UTSW	8	45,498,210 (GRCm39)	splice site	probably null
R3109:Fat1	UTSW	8	45,498,210 (GRCm39)	splice site	probably null
R3196:Fat1	UTSW	8	45,404,905 (GRCm39)	missense	probably benign	0.00
R3683:Fat1	UTSW	8	45,470,975 (GRCm39)	missense	probably benign
R3732:Fat1	UTSW	8	45,406,306 (GRCm39)	missense	possibly damaging	0.85
R3732:Fat1	UTSW	8	45,406,306 (GRCm39)	missense	possibly damaging	0.85
R3733:Fat1	UTSW	8	45,406,306 (GRCm39)	missense	possibly damaging	0.85
R3753:Fat1	UTSW	8	45,478,516 (GRCm39)	missense	probably damaging	0.97
R3905:Fat1	UTSW	8	45,476,072 (GRCm39)	missense	probably benign	0.00
R3907:Fat1	UTSW	8	45,476,072 (GRCm39)	missense	probably benign	0.00
R3908:Fat1	UTSW	8	45,476,072 (GRCm39)	missense	probably benign	0.00
R4060:Fat1	UTSW	8	45,478,518 (GRCm39)	missense	probably benign	0.09
R4061:Fat1	UTSW	8	45,478,518 (GRCm39)	missense	probably benign	0.09
R4062:Fat1	UTSW	8	45,478,518 (GRCm39)	missense	probably benign	0.09
R4063:Fat1	UTSW	8	45,478,518 (GRCm39)	missense	probably benign	0.09
R4078:Fat1	UTSW	8	45,442,159 (GRCm39)	missense	probably damaging	0.99
R4105:Fat1	UTSW	8	45,489,888 (GRCm39)	missense	probably damaging	1.00
R4118:Fat1	UTSW	8	45,503,981 (GRCm39)	missense	probably damaging	1.00
R4118:Fat1	UTSW	8	45,463,474 (GRCm39)	missense	probably damaging	1.00
R4161:Fat1	UTSW	8	45,489,824 (GRCm39)	missense	probably benign	0.00
R4364:Fat1	UTSW	8	45,405,999 (GRCm39)	missense	probably benign	0.01
R4394:Fat1	UTSW	8	45,405,383 (GRCm39)	missense	probably damaging	0.98
R4395:Fat1	UTSW	8	45,405,383 (GRCm39)	missense	probably damaging	0.98
R4396:Fat1	UTSW	8	45,405,383 (GRCm39)	missense	probably damaging	0.98
R4412:Fat1	UTSW	8	45,476,636 (GRCm39)	missense	probably damaging	0.99
R4542:Fat1	UTSW	8	45,494,931 (GRCm39)	missense	probably damaging	1.00
R4591:Fat1	UTSW	8	45,479,279 (GRCm39)	missense	probably benign
R4606:Fat1	UTSW	8	45,403,720 (GRCm39)	missense	possibly damaging	0.47
R4612:Fat1	UTSW	8	45,478,184 (GRCm39)	missense	probably damaging	1.00
R4730:Fat1	UTSW	8	45,486,514 (GRCm39)	missense	probably damaging	1.00
R4778:Fat1	UTSW	8	45,491,363 (GRCm39)	missense	probably benign	0.04
R4824:Fat1	UTSW	8	45,442,151 (GRCm39)	missense	probably damaging	1.00
R4829:Fat1	UTSW	8	45,489,199 (GRCm39)	missense	probably damaging	1.00
R4832:Fat1	UTSW	8	45,466,102 (GRCm39)	missense	possibly damaging	0.95
R4849:Fat1	UTSW	8	45,466,007 (GRCm39)	missense	probably benign	0.15
R4896:Fat1	UTSW	8	45,404,317 (GRCm39)	missense	possibly damaging	0.68
R4927:Fat1	UTSW	8	45,476,000 (GRCm39)	missense	probably damaging	0.96
R4941:Fat1	UTSW	8	45,489,312 (GRCm39)	missense	probably benign	0.00
R5011:Fat1	UTSW	8	45,484,300 (GRCm39)	critical splice acceptor site	probably null
R5040:Fat1	UTSW	8	45,476,417 (GRCm39)	missense	probably damaging	1.00
R5112:Fat1	UTSW	8	45,477,319 (GRCm39)	missense	probably damaging	1.00
R5151:Fat1	UTSW	8	45,404,851 (GRCm39)	missense	possibly damaging	0.74
R5161:Fat1	UTSW	8	45,405,549 (GRCm39)	missense	probably benign	0.00
R5162:Fat1	UTSW	8	45,478,846 (GRCm39)	missense	probably benign	0.02
R5353:Fat1	UTSW	8	45,489,168 (GRCm39)	missense	probably benign	0.13
R5425:Fat1	UTSW	8	45,478,922 (GRCm39)	missense	possibly damaging	0.64
R5458:Fat1	UTSW	8	45,466,090 (GRCm39)	missense	probably damaging	1.00
R5479:Fat1	UTSW	8	45,489,912 (GRCm39)	missense	possibly damaging	0.88
R5543:Fat1	UTSW	8	45,476,516 (GRCm39)	missense	probably damaging	0.99
R5569:Fat1	UTSW	8	45,492,873 (GRCm39)	missense	probably damaging	0.98
R5610:Fat1	UTSW	8	45,406,109 (GRCm39)	nonsense	probably null
R5734:Fat1	UTSW	8	45,504,246 (GRCm39)	missense	probably damaging	0.99
R5832:Fat1	UTSW	8	45,470,460 (GRCm39)	missense	possibly damaging	0.65
R5860:Fat1	UTSW	8	45,504,166 (GRCm39)	missense	probably benign
R5886:Fat1	UTSW	8	45,486,432 (GRCm39)	missense	probably damaging	1.00
R5886:Fat1	UTSW	8	45,480,718 (GRCm39)	critical splice donor site	probably null
R5919:Fat1	UTSW	8	45,479,910 (GRCm39)	critical splice donor site	probably null
R5930:Fat1	UTSW	8	45,497,073 (GRCm39)	missense	probably benign	0.10
R5960:Fat1	UTSW	8	45,486,405 (GRCm39)	missense	probably damaging	1.00
R5988:Fat1	UTSW	8	45,482,493 (GRCm39)	missense	probably benign	0.00
R6166:Fat1	UTSW	8	45,405,522 (GRCm39)	missense	probably damaging	1.00
R6184:Fat1	UTSW	8	45,406,429 (GRCm39)	missense	probably benign	0.00
R6208:Fat1	UTSW	8	45,480,650 (GRCm39)	missense	probably damaging	0.99
R6351:Fat1	UTSW	8	45,486,532 (GRCm39)	missense	probably damaging	1.00
R6391:Fat1	UTSW	8	45,405,379 (GRCm39)	missense	possibly damaging	0.69
R6701:Fat1	UTSW	8	45,403,718 (GRCm39)	missense	probably damaging	1.00
R6702:Fat1	UTSW	8	45,406,083 (GRCm39)	missense	probably benign	0.28
R6703:Fat1	UTSW	8	45,406,083 (GRCm39)	missense	probably benign	0.28
R6704:Fat1	UTSW	8	45,477,410 (GRCm39)	missense	probably damaging	1.00
R6822:Fat1	UTSW	8	45,479,441 (GRCm39)	missense	probably damaging	1.00
R6852:Fat1	UTSW	8	45,488,635 (GRCm39)	missense	possibly damaging	0.46
R6863:Fat1	UTSW	8	45,497,501 (GRCm39)	missense	probably damaging	1.00
R6885:Fat1	UTSW	8	45,405,489 (GRCm39)	missense	possibly damaging	0.94
R6912:Fat1	UTSW	8	45,504,060 (GRCm39)	missense	probably benign	0.00
R6927:Fat1	UTSW	8	45,477,532 (GRCm39)	missense	probably benign	0.41
R6964:Fat1	UTSW	8	45,496,982 (GRCm39)	missense	probably damaging	1.00
R7010:Fat1	UTSW	8	45,406,386 (GRCm39)	nonsense	probably null
R7062:Fat1	UTSW	8	45,403,253 (GRCm39)	start codon destroyed	probably null	0.99
R7063:Fat1	UTSW	8	45,493,812 (GRCm39)	missense	probably benign	0.09
R7071:Fat1	UTSW	8	45,442,145 (GRCm39)	missense	possibly damaging	0.67
R7117:Fat1	UTSW	8	45,484,505 (GRCm39)	missense	probably damaging	0.98
R7146:Fat1	UTSW	8	45,403,962 (GRCm39)	missense	probably benign
R7210:Fat1	UTSW	8	45,476,540 (GRCm39)	missense	probably damaging	1.00
R7227:Fat1	UTSW	8	45,463,646 (GRCm39)	missense	probably benign	0.08
R7270:Fat1	UTSW	8	45,490,475 (GRCm39)	missense	probably damaging	1.00
R7373:Fat1	UTSW	8	45,479,702 (GRCm39)	missense	probably damaging	1.00
R7390:Fat1	UTSW	8	45,405,511 (GRCm39)	missense	possibly damaging	0.81
R7465:Fat1	UTSW	8	45,497,189 (GRCm39)	missense	probably benign	0.35
R7476:Fat1	UTSW	8	45,484,311 (GRCm39)	missense	probably benign	0.01
R7483:Fat1	UTSW	8	45,476,197 (GRCm39)	missense	probably benign	0.13
R7484:Fat1	UTSW	8	45,489,221 (GRCm39)	missense	probably damaging	1.00
R7526:Fat1	UTSW	8	45,476,464 (GRCm39)	missense	probably damaging	1.00
R7549:Fat1	UTSW	8	45,442,031 (GRCm39)	missense	probably benign	0.01
R7554:Fat1	UTSW	8	45,490,202 (GRCm39)	missense	possibly damaging	0.88
R7620:Fat1	UTSW	8	45,462,887 (GRCm39)	missense	possibly damaging	0.95
R7652:Fat1	UTSW	8	45,406,336 (GRCm39)	missense	probably damaging	1.00
R7694:Fat1	UTSW	8	45,441,967 (GRCm39)	critical splice acceptor site	probably null
R7746:Fat1	UTSW	8	45,404,670 (GRCm39)	missense	probably damaging	0.96
R7762:Fat1	UTSW	8	45,490,374 (GRCm39)	missense	probably damaging	0.99
R7762:Fat1	UTSW	8	45,476,359 (GRCm39)	missense	probably damaging	1.00
R7782:Fat1	UTSW	8	45,403,948 (GRCm39)	missense	probably damaging	1.00
R7801:Fat1	UTSW	8	45,495,260 (GRCm39)	missense	probably damaging	1.00
R7807:Fat1	UTSW	8	45,495,010 (GRCm39)	missense	probably damaging	1.00
R7821:Fat1	UTSW	8	45,403,261 (GRCm39)	missense	probably benign
R7869:Fat1	UTSW	8	45,504,259 (GRCm39)	missense	probably benign	0.02
R8034:Fat1	UTSW	8	45,404,728 (GRCm39)	missense	probably benign	0.28
R8094:Fat1	UTSW	8	45,405,739 (GRCm39)	missense	probably damaging	0.98
R8111:Fat1	UTSW	8	45,479,095 (GRCm39)	missense	possibly damaging	0.94
R8220:Fat1	UTSW	8	45,492,993 (GRCm39)	missense	probably null
R8221:Fat1	UTSW	8	45,406,390 (GRCm39)	missense
R8233:Fat1	UTSW	8	45,405,055 (GRCm39)	missense
R8250:Fat1	UTSW	8	45,406,336 (GRCm39)	missense	probably damaging	1.00
R8279:Fat1	UTSW	8	45,483,384 (GRCm39)	critical splice donor site	probably null
R8726:Fat1	UTSW	8	45,477,206 (GRCm39)	missense	probably benign	0.23
R8875:Fat1	UTSW	8	45,493,600 (GRCm39)	missense	probably damaging	1.00
R8937:Fat1	UTSW	8	45,483,350 (GRCm39)	missense	probably damaging	1.00
R8950:Fat1	UTSW	8	45,476,158 (GRCm39)	missense	probably damaging	1.00
R8971:Fat1	UTSW	8	45,495,331 (GRCm39)	missense	probably damaging	1.00
R8976:Fat1	UTSW	8	45,484,332 (GRCm39)	missense	probably benign	0.02
R9000:Fat1	UTSW	8	45,497,587 (GRCm39)	nonsense	probably null
R9032:Fat1	UTSW	8	45,492,894 (GRCm39)	missense	probably benign	0.01
R9076:Fat1	UTSW	8	45,492,938 (GRCm39)	missense	probably damaging	1.00
R9083:Fat1	UTSW	8	45,491,336 (GRCm39)	missense	probably benign	0.00
R9083:Fat1	UTSW	8	45,466,127 (GRCm39)	missense	possibly damaging	0.76
R9103:Fat1	UTSW	8	45,404,850 (GRCm39)	missense	probably benign	0.38
R9124:Fat1	UTSW	8	45,478,064 (GRCm39)	missense	possibly damaging	0.48
R9124:Fat1	UTSW	8	45,403,363 (GRCm39)	missense	probably benign
R9128:Fat1	UTSW	8	45,462,878 (GRCm39)	missense	probably benign	0.14
R9148:Fat1	UTSW	8	45,405,682 (GRCm39)	missense	possibly damaging	0.81
R9162:Fat1	UTSW	8	45,404,352 (GRCm39)	missense	probably damaging	1.00
R9209:Fat1	UTSW	8	45,404,791 (GRCm39)	missense	possibly damaging	0.80
R9276:Fat1	UTSW	8	45,488,514 (GRCm39)	missense	probably damaging	0.99
R9303:Fat1	UTSW	8	45,463,498 (GRCm39)	missense	probably damaging	1.00
R9319:Fat1	UTSW	8	45,406,060 (GRCm39)	missense	probably damaging	1.00
R9392:Fat1	UTSW	8	45,476,228 (GRCm39)	missense	probably damaging	1.00
R9616:Fat1	UTSW	8	45,406,075 (GRCm39)	missense	probably damaging	0.99
R9712:Fat1	UTSW	8	45,470,417 (GRCm39)	missense	probably benign	0.05
R9756:Fat1	UTSW	8	45,496,974 (GRCm39)	missense	probably damaging	0.96
RF001:Fat1	UTSW	8	45,442,003 (GRCm39)	missense	probably benign	0.00
X0064:Fat1	UTSW	8	45,478,771 (GRCm39)	missense	possibly damaging	0.58
Z1088:Fat1	UTSW	8	45,476,844 (GRCm39)	missense	possibly damaging	0.88
Z1176:Fat1	UTSW	8	45,489,875 (GRCm39)	missense	probably damaging	1.00
Z1176:Fat1	UTSW	8	45,476,633 (GRCm39)	missense	possibly damaging	0.65
Z1176:Fat1	UTSW	8	45,403,635 (GRCm39)	missense	probably benign

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 7015 of the Fat1 transcript in exon 9 of 26 exons using Genbank record NM_001081286.2. Three transcripts of the Fat1 gene are displayed on Ensembl. The mutated nucleotide causes an isoleucine to valine substitution at amino acid 2337 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method.

Protein Function and Prediction

The Fat1 gene encodes a 4590 amino acid protein with homology to the Drosophila melanogaster atypical cadherin adhesion molecule, Fat. Full-length FAT1 has 33 cadherin repeats, a laminin G domain, and 4 EGF domains in its extracellular region, followed by a transmembrane region and a C-terminal cytoplasmic domain containing a PDZ-binding motif (SMART). Mice homozygous for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.

The I2337V alteration occurs in the 21st cadherin repeat.

Posted On

2011-03-04