Mutagenetix > Incidental Mutation

Incidental Mutation 'F5493:Fat1'

560

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 #

F5493 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45388484-45505294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45478517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2521 (E2521G)

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 damaging
Transcript: ENSMUST00000098796
AA Change: E2498G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096394
Gene: ENSMUSG00000070047
AA Change: E2498G

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: E2498G

Predicted Effect

probably damaging
Transcript: ENSMUST00000191428
AA Change: E2498G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140596
Gene: ENSMUSG00000070047
AA Change: E2498G

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 damaging
Transcript: ENSMUST00000215588
AA Change: E2521G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.1674

Coding Region Coverage

1x: 76.6%
3x: 51.4%

Het Detection Efficiency

27.8%

Validation Efficiency

67% (74/111)

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cars1	T	A	7: 143,123,608 (GRCm39)	T448S	probably damaging	Het
Cdca2	T	A	14: 67,915,141 (GRCm39)	N706I	probably damaging	Het
Fmo2	C	A	1: 162,708,101 (GRCm39)	V345L	probably benign	Het
Frrs1l	T	C	4: 56,968,293 (GRCm39)	M160V	probably benign	Het
Nckap5	A	T	1: 125,953,564 (GRCm39)	M996K	probably benign	Het
Nlrp4d	A	T	7: 10,115,011 (GRCm39)	D568E	possibly damaging	Het
Pex1	T	G	5: 3,685,912 (GRCm39)		probably null	Het
Ptprd	A	G	4: 76,002,645 (GRCm39)	L17P	probably damaging	Het
Tnfsf13b	T	A	8: 10,056,916 (GRCm39)	V25E	probably damaging	Het
Zfp386	T	C	12: 116,023,922 (GRCm39)	Y512H	probably damaging	Het

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
G1citation:Fat1	UTSW	8	45,479,441 (GRCm39)	missense	probably damaging	1.00
I2289:Fat1	UTSW	8	45,478,033 (GRCm39)	missense	probably benign	0.01
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 7499 of the Fat1 transcript in exon 9 of 26 total exons. Three transcripts of the Fat1 gene are displayed on Ensembl. The mutated nucleotide causes a glutamic acid to glycine substitution at amino acid 2498 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see related file).

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 E2498G change is located between the 22^nd and 23^rd cadherin repeats, and is predicted to be possibly damaging by the PolyPhen program.

Posted On

2010-11-30