Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Spidr'

2110

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 #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

15889224-16146851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15895578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 847 (L847Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040248] [ENSMUST00000096232]

AlphaFold

Q8BGX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040248
AA Change: L847Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: L847Q

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

probably benign
Transcript: ENSMUST00000096232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229846

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Spidr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Spidr	APN	16	16114969	missense	possibly damaging	0.94
IGL01760:Spidr	APN	16	15912560	missense	possibly damaging	0.71
IGL02142:Spidr	APN	16	16048081	missense	probably benign	0.25
IGL02392:Spidr	APN	16	15889630	makesense	probably null
IGL02430:Spidr	APN	16	16114910	missense	probably damaging	1.00
IGL03110:Spidr	APN	16	15889754	missense	probably damaging	1.00
R0011:Spidr	UTSW	16	15966603	missense	probably benign	0.00
R0504:Spidr	UTSW	16	16140072	missense	possibly damaging	0.73
R0505:Spidr	UTSW	16	16037667	missense	probably damaging	1.00
R0541:Spidr	UTSW	16	15915365	missense	probably damaging	1.00
R0675:Spidr	UTSW	16	16037634	missense	probably damaging	1.00
R0722:Spidr	UTSW	16	15912781	missense	probably damaging	1.00
R2005:Spidr	UTSW	16	16048049	missense	probably damaging	1.00
R2133:Spidr	UTSW	16	16053273	missense	probably benign	0.04
R2249:Spidr	UTSW	16	16118923	missense	probably damaging	1.00
R2876:Spidr	UTSW	16	15912589	splice site	probably null
R3087:Spidr	UTSW	16	15968619	missense	probably damaging	1.00
R3121:Spidr	UTSW	16	16140860	missense	probably damaging	1.00
R3765:Spidr	UTSW	16	15968640	missense	probably benign	0.39
R4896:Spidr	UTSW	16	16118942	missense	possibly damaging	0.70
R4939:Spidr	UTSW	16	16140746	nonsense	probably null
R5004:Spidr	UTSW	16	16118942	missense	possibly damaging	0.70
R5042:Spidr	UTSW	16	16118903	missense	probably benign	0.09
R5736:Spidr	UTSW	16	15897298	missense	probably damaging	1.00
R5839:Spidr	UTSW	16	16037502	missense	probably damaging	1.00
R5970:Spidr	UTSW	16	16114869	missense	probably damaging	1.00
R6084:Spidr	UTSW	16	16140024	missense	possibly damaging	0.87
R6386:Spidr	UTSW	16	15968560	missense	probably benign	0.02
R6572:Spidr	UTSW	16	15912516	splice site	probably null
R7238:Spidr	UTSW	16	15966816	missense	probably benign	0.10
R7249:Spidr	UTSW	16	15966648	missense	probably benign	0.00
R7334:Spidr	UTSW	16	16114825	critical splice donor site	probably null
R7393:Spidr	UTSW	16	16146831	start gained	probably benign
R7681:Spidr	UTSW	16	15895624	missense	probably damaging	1.00
R7818:Spidr	UTSW	16	16114865	missense	probably damaging	1.00
R8247:Spidr	UTSW	16	15968526	critical splice donor site	probably null
R8472:Spidr	UTSW	16	16140727	missense	probably benign	0.21
R8507:Spidr	UTSW	16	15968676	missense	probably damaging	1.00
R8854:Spidr	UTSW	16	15889766	missense	probably damaging	0.99
R9201:Spidr	UTSW	16	15912692	missense	possibly damaging	0.46
R9211:Spidr	UTSW	16	16053455	missense	probably benign	0.13
R9216:Spidr	UTSW	16	16118950	missense	probably benign	0.22
R9272:Spidr	UTSW	16	16037680	missense	probably damaging	1.00
R9276:Spidr	UTSW	16	15966848	missense	probably benign	0.00
R9608:Spidr	UTSW	16	16037610	missense	probably benign	0.30
R9689:Spidr	UTSW	16	16053440	missense	probably damaging	0.99
R9690:Spidr	UTSW	16	16140785	missense	probably damaging	1.00
X0025:Spidr	UTSW	16	15889752	missense	probably benign

Posted On

2011-12-09