Mutagenetix > Incidental Mutation

Incidental Mutation 'R3087:Spidr'

262875

Institutional Source

Beutler Lab

Gene Symbol

Spidr

Ensembl Gene

ENSMUSG00000041974

Gene Name

scaffolding protein involved in DNA repair

Synonyms

2310008H04Rik

MMRRC Submission

040576-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15707088-15964715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15786483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 420 (Y420C)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

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

AlphaFold

Q8BGX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040248
AA Change: Y420C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: Y420C

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

Meta Mutation Damage Score

0.4559

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (29/30)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aknad1	C	T	3: 108,664,179 (GRCm39)	Q381*	probably null	Het
Arhgef39	C	T	4: 43,497,581 (GRCm39)		probably null	Het
Cblif	A	T	19: 11,737,737 (GRCm39)	K383*	probably null	Het
Ccdc85a	G	T	11: 28,342,857 (GRCm39)	C113*	probably null	Het
Cdc16	T	C	8: 13,809,004 (GRCm39)	Y19H	probably damaging	Het
Ces2e	T	A	8: 105,657,347 (GRCm39)	M289K	probably benign	Het
Cyp2u1	G	A	3: 131,096,676 (GRCm39)	A34V	probably benign	Het
Dkk2	A	C	3: 131,791,900 (GRCm39)	N36T	probably damaging	Het
Fam222a	A	G	5: 114,750,015 (GRCm39)	S404G	probably damaging	Het
Fbll1	A	T	11: 35,689,017 (GRCm39)	V82E	probably damaging	Het
Flt3	A	G	5: 147,284,856 (GRCm39)	S754P	probably benign	Het
Fmo5	T	C	3: 97,549,011 (GRCm39)	W220R	probably damaging	Het
Gm7275	A	G	16: 47,894,098 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,897,433 (GRCm39)		probably benign	Het
Ifi44l	T	C	3: 151,468,494 (GRCm39)	H12R	unknown	Het
Itsn2	T	C	12: 4,716,303 (GRCm39)	Y1021H	probably damaging	Het
Map4	T	C	9: 109,882,257 (GRCm39)	S374P	possibly damaging	Het
Map4k4	A	T	1: 40,060,242 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,990,434 (GRCm39)		probably benign	Het
Mdfic	T	A	6: 15,799,668 (GRCm39)	L265H	probably damaging	Het
Pabpc2	A	G	18: 39,907,319 (GRCm39)	I195V	probably benign	Het
Pramel25	A	G	4: 143,520,416 (GRCm39)	D56G	probably benign	Het
Prdm1	T	C	10: 44,322,823 (GRCm39)	Y224C	probably damaging	Het
Tlr6	A	T	5: 65,111,668 (GRCm39)	M413K	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r11	A	C	6: 57,114,691 (GRCm39)	K81N	possibly damaging	Het
Vmn2r107	G	A	17: 20,580,607 (GRCm39)	E515K	probably benign	Het
Vstm4	T	C	14: 32,614,592 (GRCm39)	V178A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GACCATGACTAAATGCTACTTGAG -3'
(R):5'- CCCACTCGTTGTTAGGAATGC -3'

Sequencing Primer
(F):5'- TGGCATAAATGATGATAACATGCTC -3'
(R):5'- CGTTGTTAGGAATGCTGTAATTTAC -3'

Posted On

2015-02-05