Incidental Mutation 'R4896:Spidr'
ID 377684
Institutional Source Beutler Lab
Gene Symbol Spidr
Ensembl Gene ENSMUSG00000041974
Gene Name scaffolding protein involved in DNA repair
Synonyms 2310008H04Rik
MMRRC Submission 042500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4896 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 15707088-15964715 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15936806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 100 (W100R)
Ref Sequence ENSEMBL: ENSMUSP00000038820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040248]
AlphaFold Q8BGX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000040248
AA Change: W100R

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: W100R

DomainStartEndE-ValueType
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 0.1992 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 99% (101/102)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,957,267 (GRCm39) V132A possibly damaging Het
Acp3 A T 9: 104,184,174 (GRCm39) V292E probably damaging Het
Adamts10 T C 17: 33,747,870 (GRCm39) V102A possibly damaging Het
Add2 A G 6: 86,073,728 (GRCm39) T206A probably benign Het
Alg12 A T 15: 88,700,391 (GRCm39) L15Q probably damaging Het
Ankrd27 T A 7: 35,307,800 (GRCm39) D346E probably damaging Het
Armc2 A T 10: 41,799,790 (GRCm39) N689K probably damaging Het
Best3 T A 10: 116,860,460 (GRCm39) D573E probably benign Het
Bltp1 T G 3: 37,020,086 (GRCm39) N2108K probably damaging Het
Ccdc80 A T 16: 44,916,261 (GRCm39) Q339L probably benign Het
Cdh9 T C 15: 16,778,242 (GRCm39) V19A probably benign Het
Cimap1a G A 7: 140,428,398 (GRCm39) probably benign Het
Cnksr1 A T 4: 133,956,986 (GRCm39) probably null Het
Col7a1 T A 9: 108,786,345 (GRCm39) V525E unknown Het
Cplane1 T C 15: 8,251,421 (GRCm39) S1898P probably benign Het
Crebrf T C 17: 26,961,394 (GRCm39) S172P possibly damaging Het
Csmd1 T C 8: 16,059,439 (GRCm39) I2099V probably benign Het
Dcaf4 T A 12: 83,586,233 (GRCm39) M400K possibly damaging Het
Dnah11 A T 12: 117,958,935 (GRCm39) F2983I probably damaging Het
Dock6 A G 9: 21,735,733 (GRCm39) V1005A possibly damaging Het
Dyrk2 C A 10: 118,704,153 (GRCm39) G34C probably damaging Het
Eif4a1 A T 11: 69,559,423 (GRCm39) probably benign Het
Eno4 G T 19: 58,952,975 (GRCm39) D330Y probably damaging Het
Faf1 G A 4: 109,699,496 (GRCm39) C347Y probably benign Het
Fam169a A G 13: 97,234,100 (GRCm39) Y124C probably damaging Het
Fam227a G T 15: 79,521,255 (GRCm39) F269L probably benign Het
Fancm C A 12: 65,122,605 (GRCm39) D42E probably damaging Het
Fat1 T A 8: 45,404,317 (GRCm39) I356N possibly damaging Het
Fer1l6 A T 15: 58,509,869 (GRCm39) T1444S probably damaging Het
Galr1 A G 18: 82,412,065 (GRCm39) L267P probably damaging Het
Gbx1 T C 5: 24,709,837 (GRCm39) H336R probably damaging Het
Gimap8 A T 6: 48,636,281 (GRCm39) Q682L possibly damaging Het
Gm2396 T G 9: 88,813,281 (GRCm39) noncoding transcript Het
Gm5798 T C 14: 41,070,614 (GRCm39) L8S probably damaging Het
Hmgcll1 C T 9: 75,963,460 (GRCm39) S39F possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Il3ra A T 14: 14,355,381 (GRCm38) E289D probably benign Het
Isoc1 T A 18: 58,806,350 (GRCm39) L220Q probably damaging Het
Itga2 T A 13: 114,990,302 (GRCm39) K918* probably null Het
Kat6a C T 8: 23,428,329 (GRCm39) T1228I probably benign Het
Klhl30 T A 1: 91,287,046 (GRCm39) probably null Het
Krtap6-2 A T 16: 89,216,806 (GRCm39) C54S unknown Het
Lmf2 G A 15: 89,236,003 (GRCm39) P634S probably benign Het
Map3k4 A G 17: 12,490,906 (GRCm39) V175A possibly damaging Het
Mcm3 A C 1: 20,890,480 (GRCm39) probably benign Het
Mon1b T C 8: 114,365,859 (GRCm39) S396P probably damaging Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Ncor2 A G 5: 125,126,404 (GRCm39) probably null Het
Nlrc5 T G 8: 95,247,844 (GRCm39) probably benign Het
Nlrp14 GT GTT 7: 106,796,386 (GRCm39) probably null Het
Nwd2 T G 5: 63,962,151 (GRCm39) S578R probably damaging Het
Or12k7 A G 2: 36,958,422 (GRCm39) Y35C probably damaging Het
Or4f4b G A 2: 111,314,005 (GRCm39) V105I possibly damaging Het
Otoa C A 7: 120,701,902 (GRCm39) P194T probably damaging Het
Pde1b A C 15: 103,429,801 (GRCm39) D98A probably damaging Het
Pi4ka A T 16: 17,195,033 (GRCm39) C122S probably damaging Het
Pole2 C T 12: 69,269,924 (GRCm39) V67M probably damaging Het
Prickle2 A T 6: 92,393,736 (GRCm39) D312E probably benign Het
Prkd1 T C 12: 50,436,745 (GRCm39) D453G probably damaging Het
Prrc1 T A 18: 57,507,626 (GRCm39) V260E probably damaging Het
Reg3g A T 6: 78,444,793 (GRCm39) Y62N probably benign Het
Reln C T 5: 22,160,236 (GRCm39) G2111E probably damaging Het
Rsph6a A T 7: 18,791,665 (GRCm39) E278V possibly damaging Het
Scpep1 T A 11: 88,832,122 (GRCm39) I203F probably damaging Het
Sec24d T C 3: 123,148,596 (GRCm39) C747R probably damaging Het
Sec31a A T 5: 100,516,192 (GRCm39) N967K probably damaging Het
Sell T C 1: 163,890,631 (GRCm39) W5R probably benign Het
Siglec1 C T 2: 130,911,789 (GRCm39) V1697M probably benign Het
Sinhcaf A G 6: 148,834,498 (GRCm39) probably null Het
Slc22a26 T A 19: 7,768,419 (GRCm39) I213L probably benign Het
Slc2a13 G A 15: 91,296,415 (GRCm39) P300S probably benign Het
Slco1a4 A G 6: 141,761,231 (GRCm39) Y461H possibly damaging Het
Slco3a1 G C 7: 73,970,304 (GRCm39) C434W probably null Het
Sp3 A T 2: 72,768,633 (GRCm39) V666D probably benign Het
Stk33 T A 7: 108,926,802 (GRCm39) M286L probably damaging Het
Sult1c2 T A 17: 54,139,163 (GRCm39) I183F probably benign Het
Svep1 G T 4: 58,087,751 (GRCm39) T1776K probably benign Het
Tesk2 A G 4: 116,660,190 (GRCm39) H436R probably benign Het
Tex2 T C 11: 106,459,230 (GRCm39) T67A probably damaging Het
Timm10 T C 2: 84,660,192 (GRCm39) S44P possibly damaging Het
Tmed11 C A 5: 108,943,048 (GRCm39) probably null Het
Trim12c G A 7: 103,990,155 (GRCm39) R441C probably damaging Het
Trmt2a A G 16: 18,070,793 (GRCm39) K509E probably damaging Het
Upk3a A G 15: 84,903,624 (GRCm39) T108A probably benign Het
Usp29 A G 7: 6,965,158 (GRCm39) M334V probably benign Het
Vash1 A G 12: 86,726,916 (GRCm39) D52G probably benign Het
Vmn2r14 T G 5: 109,368,246 (GRCm39) T249P probably benign Het
Vmn2r43 A T 7: 8,247,848 (GRCm39) F772I probably damaging Het
Vmn2r75 G T 7: 85,820,787 (GRCm39) S49Y probably benign Het
Xdh T C 17: 74,217,238 (GRCm39) T677A probably damaging Het
Zan A G 5: 137,384,718 (GRCm39) L5102P unknown Het
Zfp160 T A 17: 21,240,343 (GRCm39) S9T probably benign Het
Zfp273 A T 13: 67,973,673 (GRCm39) H267L probably damaging Het
Zfp97 T A 17: 17,365,038 (GRCm39) I179K probably benign Het
Zfp975 T C 7: 42,311,716 (GRCm39) Y299C probably damaging Het
Other mutations in Spidr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTTAACAGAAACTGAACTTCCTACAA -3'
(R):5'- TGTGGCTTTGTCTAAATAATATGCA -3'

Sequencing Primer
(F):5'- AAACCAGCAATTTACCTTCAATGTC -3'
(R):5'- AATCTCAGCCCTGCACTTGAGG -3'
Posted On 2016-03-17