Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Spidr'

47523

Institutional Source

Beutler Lab

Gene Symbol

Spidr

Ensembl Gene

ENSMUSG00000041974

Gene Name

scaffolding protein involved in DNA repair

Synonyms

2310008H04Rik

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15707088-15964715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15855531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 328 (H328L)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

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

AlphaFold

Q8BGX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040248
AA Change: H328L

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

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: H328L

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

0.3680

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Abi1	A	G	2: 22,852,516 (GRCm39)		probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Ggt1	T	G	10: 75,421,791 (GRCm39)	V546G	probably damaging	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Igf2bp2	A	G	16: 21,907,849 (GRCm39)	I16T	possibly damaging	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Ipo5	T	C	14: 121,180,145 (GRCm39)	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,150,591 (GRCm39)	A341T	probably benign	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,789,255 (GRCm39)		probably benign	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Ogdh	T	A	11: 6,289,936 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTAGCCTGATGCCATTTCACAAG -3'
(R):5'- GGCCGACCTTATAAAGAGAGGCAC -3'

Sequencing Primer
(F):5'- ATGACCACTGGCTATGATGC -3'
(R):5'- CGACCTTATAAAGAGAGGCACTACTG -3'

Posted On

2013-06-12