Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01328:Fam83a'

74392

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam83a

Ensembl Gene

ENSMUSG00000051225

Gene Name

family with sequence similarity 83, member A

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

57848815-57874405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57849901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 148 (R148S)

Ref Sequence

ENSEMBL: ENSMUSP00000125464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050374] [ENSMUST00000160942]

AlphaFold

Q8K2P2

Predicted Effect

probably damaging
Transcript: ENSMUST00000050374
AA Change: R148S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050051
Gene: ENSMUSG00000051225
AA Change: R148S

Domain	Start	End	E-Value	Type
Pfam:DUF1669	14	258	6e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160942
AA Change: R148S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125464
Gene: ENSMUSG00000051225
AA Change: R148S

Domain	Start	End	E-Value	Type
Pfam:DUF1669	19	295	3.6e-102	PFAM
low complexity region	350	361	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	C	T	18: 59,181,954 (GRCm39)	S1131F	possibly damaging	Het
Alg14	G	A	3: 121,155,232 (GRCm39)	V151I	probably benign	Het
Ano5	G	A	7: 51,206,019 (GRCm39)		probably null	Het
Arhgef28	A	T	13: 98,106,831 (GRCm39)	C698S	probably damaging	Het
Cacnb4	T	C	2: 52,354,637 (GRCm39)	H247R	probably damaging	Het
Clec12b	A	T	6: 129,356,517 (GRCm39)	W216R	probably damaging	Het
Clnk	C	T	5: 38,941,871 (GRCm39)	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,055,049 (GRCm39)	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,773 (GRCm39)	M635I	probably damaging	Het
Dlg5	A	G	14: 24,252,419 (GRCm39)	V107A	probably damaging	Het
Dsc2	A	T	18: 20,181,343 (GRCm39)	F155I	probably damaging	Het
Dtwd1	A	G	2: 126,006,739 (GRCm39)	I254V	probably damaging	Het
Dzip3	A	T	16: 48,792,621 (GRCm39)	D221E	probably damaging	Het
F13b	T	A	1: 139,435,820 (GRCm39)		probably benign	Het
Fam131b	G	A	6: 42,295,206 (GRCm39)	L324F	probably damaging	Het
Farsb	T	C	1: 78,447,729 (GRCm39)	I236V	probably benign	Het
Fat4	T	A	3: 39,034,807 (GRCm39)	F2820I	probably damaging	Het
Fat4	T	A	3: 38,944,140 (GRCm39)	V1011E	probably damaging	Het
Fgf7	A	G	2: 125,930,164 (GRCm39)	E99G	probably damaging	Het
Fign	T	C	2: 63,809,216 (GRCm39)	T685A	probably damaging	Het
Fubp1	G	A	3: 151,925,855 (GRCm39)	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530 (GRCm39)	M477I	probably damaging	Het
Gm14496	A	G	2: 181,637,673 (GRCm39)	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,807,904 (GRCm39)	D1768G	probably damaging	Het
Htatip2	T	A	7: 49,420,697 (GRCm39)		probably null	Het
Irs2	C	A	8: 11,054,792 (GRCm39)	Q1213H	probably damaging	Het
Jak3	C	T	8: 72,132,264 (GRCm39)	R210C	probably damaging	Het
Klk1b27	T	C	7: 43,705,303 (GRCm39)	S157P	probably damaging	Het
Klri1	T	C	6: 129,675,800 (GRCm39)	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,713,223 (GRCm39)	G395*	probably null	Het
Mx1	T	A	16: 97,256,832 (GRCm39)	I116F	probably damaging	Het
Oip5	A	C	2: 119,442,314 (GRCm39)	M200R	possibly damaging	Het
Or10ag56	T	A	2: 87,139,925 (GRCm39)	L284Q	possibly damaging	Het
Or10g3	T	C	14: 52,609,967 (GRCm39)	D181G	probably damaging	Het
Or4b1d	T	C	2: 89,969,418 (GRCm39)	K22E	probably benign	Het
Or4k39	A	G	2: 111,239,564 (GRCm39)	Y268C	probably damaging	Het
Pamr1	T	A	2: 102,472,482 (GRCm39)	S594T	probably benign	Het
Phf13	C	T	4: 152,080,285 (GRCm39)	E13K	probably benign	Het
Plekha6	A	T	1: 133,200,074 (GRCm39)		probably null	Het
Rad17	A	C	13: 100,754,311 (GRCm39)	N636K	probably benign	Het
Rad21	T	A	15: 51,836,520 (GRCm39)	D217V	probably damaging	Het
Slc7a10	A	G	7: 34,885,917 (GRCm39)	D4G	possibly damaging	Het
Stc1	A	G	14: 69,275,726 (GRCm39)	D173G	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tex15	C	T	8: 34,061,424 (GRCm39)	Q559*	probably null	Het
Trim44	T	A	2: 102,230,365 (GRCm39)	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,767 (GRCm39)	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,288,365 (GRCm39)	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,545,819 (GRCm39)	T564A	probably benign	Het
Vsir	C	A	10: 60,203,539 (GRCm39)		probably benign	Het
Vwc2l	T	A	1: 70,768,163 (GRCm39)		probably null	Het
Xrn2	T	C	2: 146,871,850 (GRCm39)	V396A	possibly damaging	Het
Zbbx	T	A	3: 75,000,382 (GRCm39)	K208*	probably null	Het
Zfhx4	C	A	3: 5,309,344 (GRCm39)	L857M	probably damaging	Het
Zfp180	A	G	7: 23,800,904 (GRCm39)	D53G	probably benign	Het

Other mutations in Fam83a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Fam83a	APN	15	57,849,771 (GRCm39)	missense	possibly damaging	0.91
IGL01590:Fam83a	APN	15	57,873,173 (GRCm39)	missense	probably damaging	1.00
IGL02306:Fam83a	APN	15	57,858,704 (GRCm39)	missense	probably damaging	1.00
IGL03062:Fam83a	APN	15	57,856,473 (GRCm39)	splice site	probably null
R0110:Fam83a	UTSW	15	57,873,322 (GRCm39)	missense	probably benign	0.09
R0450:Fam83a	UTSW	15	57,873,322 (GRCm39)	missense	probably benign	0.09
R0469:Fam83a	UTSW	15	57,873,322 (GRCm39)	missense	probably benign	0.09
R0533:Fam83a	UTSW	15	57,873,207 (GRCm39)	missense	probably benign	0.43
R1210:Fam83a	UTSW	15	57,858,644 (GRCm39)	missense	possibly damaging	0.95
R1386:Fam83a	UTSW	15	57,849,899 (GRCm39)	missense	probably damaging	1.00
R1474:Fam83a	UTSW	15	57,873,272 (GRCm39)	missense	probably benign	0.02
R1476:Fam83a	UTSW	15	57,873,341 (GRCm39)	missense	probably benign	0.00
R1969:Fam83a	UTSW	15	57,849,498 (GRCm39)	missense	probably damaging	1.00
R4463:Fam83a	UTSW	15	57,858,655 (GRCm39)	missense	probably damaging	1.00
R5088:Fam83a	UTSW	15	57,873,196 (GRCm39)	missense	probably benign	0.00
R5961:Fam83a	UTSW	15	57,872,992 (GRCm39)	missense	possibly damaging	0.90
R6307:Fam83a	UTSW	15	57,849,507 (GRCm39)	missense	possibly damaging	0.93
R6524:Fam83a	UTSW	15	57,858,736 (GRCm39)	critical splice donor site	probably null
R6676:Fam83a	UTSW	15	57,856,439 (GRCm39)	missense	possibly damaging	0.91
R7412:Fam83a	UTSW	15	57,849,821 (GRCm39)	missense	probably benign
R7447:Fam83a	UTSW	15	57,873,086 (GRCm39)	missense	probably benign	0.00
R7493:Fam83a	UTSW	15	57,849,569 (GRCm39)	missense	probably damaging	1.00
R8379:Fam83a	UTSW	15	57,873,196 (GRCm39)	missense	probably benign	0.00
R8424:Fam83a	UTSW	15	57,873,046 (GRCm39)	missense	possibly damaging	0.45
R8728:Fam83a	UTSW	15	57,873,062 (GRCm39)	missense	possibly damaging	0.64
R8856:Fam83a	UTSW	15	57,872,977 (GRCm39)	missense	probably damaging	1.00
R8925:Fam83a	UTSW	15	57,873,313 (GRCm39)	missense	probably benign	0.01
R8927:Fam83a	UTSW	15	57,873,313 (GRCm39)	missense	probably benign	0.01
R9514:Fam83a	UTSW	15	57,849,765 (GRCm39)	missense	possibly damaging	0.64
R9721:Fam83a	UTSW	15	57,849,513 (GRCm39)	missense	probably benign	0.00
X0023:Fam83a	UTSW	15	57,873,001 (GRCm39)	missense	possibly damaging	0.72

Posted On

2013-10-07