Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01760:Spidr'

153245

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 #

IGL01760

Quality Score

Status

Chromosome

Chromosomal Location

15707088-15964715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15730424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 664 (R664S)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

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

AlphaFold

Q8BGX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040248
AA Change: R664S

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: R664S

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	A	8: 84,458,586 (GRCm39)	T147S	probably benign	Het
Chst3	A	T	10: 60,022,292 (GRCm39)	V185D	probably damaging	Het
Col14a1	A	C	15: 55,286,855 (GRCm39)	D892A	unknown	Het
Dop1a	A	G	9: 86,401,976 (GRCm39)	T1059A	probably benign	Het
Eif1ad3	A	T	12: 87,843,791 (GRCm39)		probably benign	Het
Erlec1	A	C	11: 30,884,731 (GRCm39)	S441A	probably benign	Het
Frmd4b	G	T	6: 97,285,663 (GRCm39)	T289N	probably damaging	Het
Gm6133	G	A	18: 78,393,390 (GRCm39)	R128Q	probably benign	Het
Gnai2	A	G	9: 107,493,717 (GRCm39)	S155P	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Hspg2	T	C	4: 137,239,982 (GRCm39)	S517P	possibly damaging	Het
Ighv9-1	C	A	12: 114,057,814 (GRCm39)	E29*	probably null	Het
Lrp1	T	C	10: 127,409,370 (GRCm39)	K1583R	probably benign	Het
Ltbp1	C	T	17: 75,534,145 (GRCm39)	T211M	probably damaging	Het
Mttp	A	G	3: 137,817,497 (GRCm39)	S418P	probably benign	Het
Napa	A	G	7: 15,832,669 (GRCm39)	N23S	possibly damaging	Het
Odf2	C	A	2: 29,804,472 (GRCm39)	Q347K	probably damaging	Het
Ogdhl	A	G	14: 32,061,894 (GRCm39)	D504G	probably damaging	Het
Or10aa1	T	C	1: 173,870,191 (GRCm39)	L225P	probably damaging	Het
Pdxdc1	A	T	16: 13,677,016 (GRCm39)	N273K	probably damaging	Het
Rslcan18	T	C	13: 67,262,015 (GRCm39)	I11V	probably benign	Het
Tead3	T	C	17: 28,552,055 (GRCm39)	N385S	probably benign	Het
Trim13	T	A	14: 61,843,172 (GRCm39)	N396K	probably benign	Het
Trp53bp2	C	T	1: 182,275,993 (GRCm39)	A160V	possibly damaging	Het
Vmn2r69	A	G	7: 85,056,072 (GRCm39)	S689P	possibly damaging	Het
Vmn2r79	A	T	7: 86,651,366 (GRCm39)	Q255L	probably benign	Het
Wsb1	T	C	11: 79,132,867 (GRCm39)	Y276C	probably damaging	Het
Zfp236	G	T	18: 82,639,547 (GRCm39)	N1233K	probably damaging	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
IGL00482:Spidr	APN	16	15,932,833 (GRCm39)	missense	possibly damaging	0.94
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

2014-02-04