Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00482:Spidr'

4002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spidr

Ensembl Gene

ENSMUSG00000041974

Gene Name

scaffolding protein involved in DNA repair

Synonyms

2310008H04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00482

Quality Score

Status

Chromosome

Chromosomal Location

15707088-15964715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15932833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 149 (V149A)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040248]

AlphaFold

Q8BGX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040248
AA Change: V149A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: V149A

Domain	Start	End	E-Value	Type
Pfam:DUF4502	11	390	1.8e-177	PFAM
low complexity region	499	508	N/A	INTRINSIC
Pfam:DUF4503	540	921	2.2e-179	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229846

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,338,350 (GRCm39)	T722A	probably damaging	Het
Akr1b10	G	T	6: 34,365,837 (GRCm39)		probably benign	Het
Amy1	G	T	3: 113,349,781 (GRCm39)	T463K	probably damaging	Het
Arid4b	T	C	13: 14,365,719 (GRCm39)		probably benign	Het
Arl2	A	G	19: 6,191,082 (GRCm39)	L17P	probably damaging	Het
C2cd2	T	C	16: 97,671,420 (GRCm39)	E493G	probably damaging	Het
Cdk19	A	G	10: 40,345,644 (GRCm39)	E239G	possibly damaging	Het
Cit	A	G	5: 116,076,814 (GRCm39)	D719G	probably damaging	Het
Commd3	T	C	2: 18,678,739 (GRCm39)	V58A	possibly damaging	Het
Cyp2c29	A	C	19: 39,313,467 (GRCm39)	D360A	probably damaging	Het
Eps8	A	G	6: 137,482,477 (GRCm39)	Y492H	probably benign	Het
Gk	A	G	X: 84,804,207 (GRCm39)	L78P	possibly damaging	Het
Gm5884	A	T	6: 128,623,166 (GRCm39)		noncoding transcript	Het
Lat2	A	T	5: 134,635,630 (GRCm39)		probably null	Het
Lrrc4c	C	A	2: 97,460,730 (GRCm39)	S452*	probably null	Het
Ntsr2	T	C	12: 16,709,849 (GRCm39)	C377R	probably damaging	Het
Padi3	A	C	4: 140,530,935 (GRCm39)	M29R	possibly damaging	Het
Pcdh9	A	G	14: 93,564,130 (GRCm39)	S1067P	probably damaging	Het
Prrc2a	T	C	17: 35,373,959 (GRCm39)	D1462G	probably damaging	Het
Rassf4	A	G	6: 116,622,089 (GRCm39)	F168L	possibly damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Siglec1	C	T	2: 130,921,245 (GRCm39)	R642Q	probably benign	Het
Snrnp200	T	G	2: 127,072,055 (GRCm39)	V1214G	possibly damaging	Het
Sorcs3	G	A	19: 48,592,303 (GRCm39)	G323S	probably benign	Het
Stat4	A	T	1: 52,113,856 (GRCm39)	I189F	probably benign	Het
Tep1	T	C	14: 51,080,641 (GRCm39)	Y1387C	probably damaging	Het
Tmprss9	G	A	10: 80,730,262 (GRCm39)		probably null	Het

Other mutations in Spidr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Spidr	APN	16	15,713,442 (GRCm39)	missense	probably damaging	1.00
IGL01760:Spidr	APN	16	15,730,424 (GRCm39)	missense	possibly damaging	0.71
IGL02142:Spidr	APN	16	15,865,945 (GRCm39)	missense	probably benign	0.25
IGL02392:Spidr	APN	16	15,707,494 (GRCm39)	makesense	probably null
IGL02430:Spidr	APN	16	15,932,774 (GRCm39)	missense	probably damaging	1.00
IGL03110:Spidr	APN	16	15,707,618 (GRCm39)	missense	probably damaging	1.00
R0011:Spidr	UTSW	16	15,784,467 (GRCm39)	missense	probably benign	0.00
R0504:Spidr	UTSW	16	15,957,936 (GRCm39)	missense	possibly damaging	0.73
R0505:Spidr	UTSW	16	15,855,531 (GRCm39)	missense	probably damaging	1.00
R0541:Spidr	UTSW	16	15,733,229 (GRCm39)	missense	probably damaging	1.00
R0675:Spidr	UTSW	16	15,855,498 (GRCm39)	missense	probably damaging	1.00
R0722:Spidr	UTSW	16	15,730,645 (GRCm39)	missense	probably damaging	1.00
R2005:Spidr	UTSW	16	15,865,913 (GRCm39)	missense	probably damaging	1.00
R2133:Spidr	UTSW	16	15,871,137 (GRCm39)	missense	probably benign	0.04
R2249:Spidr	UTSW	16	15,936,787 (GRCm39)	missense	probably damaging	1.00
R2876:Spidr	UTSW	16	15,730,453 (GRCm39)	splice site	probably null
R3087:Spidr	UTSW	16	15,786,483 (GRCm39)	missense	probably damaging	1.00
R3121:Spidr	UTSW	16	15,958,724 (GRCm39)	missense	probably damaging	1.00
R3765:Spidr	UTSW	16	15,786,504 (GRCm39)	missense	probably benign	0.39
R4896:Spidr	UTSW	16	15,936,806 (GRCm39)	missense	possibly damaging	0.70
R4939:Spidr	UTSW	16	15,958,610 (GRCm39)	nonsense	probably null
R5004:Spidr	UTSW	16	15,936,806 (GRCm39)	missense	possibly damaging	0.70
R5042:Spidr	UTSW	16	15,936,767 (GRCm39)	missense	probably benign	0.09
R5736:Spidr	UTSW	16	15,715,162 (GRCm39)	missense	probably damaging	1.00
R5839:Spidr	UTSW	16	15,855,366 (GRCm39)	missense	probably damaging	1.00
R5970:Spidr	UTSW	16	15,932,733 (GRCm39)	missense	probably damaging	1.00
R6084:Spidr	UTSW	16	15,957,888 (GRCm39)	missense	possibly damaging	0.87
R6386:Spidr	UTSW	16	15,786,424 (GRCm39)	missense	probably benign	0.02
R6572:Spidr	UTSW	16	15,730,380 (GRCm39)	splice site	probably null
R7238:Spidr	UTSW	16	15,784,680 (GRCm39)	missense	probably benign	0.10
R7249:Spidr	UTSW	16	15,784,512 (GRCm39)	missense	probably benign	0.00
R7334:Spidr	UTSW	16	15,932,689 (GRCm39)	critical splice donor site	probably null
R7393:Spidr	UTSW	16	15,964,695 (GRCm39)	start gained	probably benign
R7681:Spidr	UTSW	16	15,713,488 (GRCm39)	missense	probably damaging	1.00
R7818:Spidr	UTSW	16	15,932,729 (GRCm39)	missense	probably damaging	1.00
R8247:Spidr	UTSW	16	15,786,390 (GRCm39)	critical splice donor site	probably null
R8472:Spidr	UTSW	16	15,958,591 (GRCm39)	missense	probably benign	0.21
R8507:Spidr	UTSW	16	15,786,540 (GRCm39)	missense	probably damaging	1.00
R8854:Spidr	UTSW	16	15,707,630 (GRCm39)	missense	probably damaging	0.99
R9201:Spidr	UTSW	16	15,730,556 (GRCm39)	missense	possibly damaging	0.46
R9211:Spidr	UTSW	16	15,871,319 (GRCm39)	missense	probably benign	0.13
R9216:Spidr	UTSW	16	15,936,814 (GRCm39)	missense	probably benign	0.22
R9272:Spidr	UTSW	16	15,855,544 (GRCm39)	missense	probably damaging	1.00
R9276:Spidr	UTSW	16	15,784,712 (GRCm39)	missense	probably benign	0.00
R9608:Spidr	UTSW	16	15,855,474 (GRCm39)	missense	probably benign	0.30
R9689:Spidr	UTSW	16	15,871,304 (GRCm39)	missense	probably damaging	0.99
R9690:Spidr	UTSW	16	15,958,649 (GRCm39)	missense	probably damaging	1.00
X0025:Spidr	UTSW	16	15,707,616 (GRCm39)	missense	probably benign

Posted On

2012-04-20