Incidental Mutation 'R0541:Spidr'
ID 49940
Institutional Source Beutler Lab
Gene Symbol Spidr
Ensembl Gene ENSMUSG00000041974
Gene Name scaffolding protein involved in DNA repair
Synonyms 2310008H04Rik
MMRRC Submission 038733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0541 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 15707088-15964715 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15733229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 589 (I589F)
Ref Sequence ENSEMBL: ENSMUSP00000038820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040248]
AlphaFold Q8BGX7
Predicted Effect probably damaging
Transcript: ENSMUST00000040248
AA Change: I589F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: I589F

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 0.2990 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,872 (GRCm39) M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,227 (GRCm39) probably null Het
Abca7 C T 10: 79,843,185 (GRCm39) A1220V probably benign Het
Adamts19 G A 18: 59,060,372 (GRCm39) probably null Het
Agbl1 G A 7: 76,058,993 (GRCm39) V194M probably benign Het
Arhgap20 G T 9: 51,760,963 (GRCm39) S902I probably damaging Het
Atp11b T G 3: 35,861,093 (GRCm39) D193E probably damaging Het
B3gntl1 A T 11: 121,535,430 (GRCm39) probably benign Het
C2cd2 T C 16: 97,723,496 (GRCm39) E7G possibly damaging Het
Camta2 A G 11: 70,572,447 (GRCm39) L259P probably benign Het
Ccni T C 5: 93,335,563 (GRCm39) N192D probably benign Het
Cgnl1 A G 9: 71,558,535 (GRCm39) I946T possibly damaging Het
Chil3 T C 3: 106,068,548 (GRCm39) probably null Het
Cntn5 A G 9: 9,673,407 (GRCm39) probably benign Het
Cpn2 C T 16: 30,078,169 (GRCm39) G511S possibly damaging Het
Dagla C A 19: 10,232,170 (GRCm39) probably null Het
Dcc T C 18: 71,392,086 (GRCm39) N1440S probably damaging Het
Drosha T A 15: 12,907,474 (GRCm39) N1069K probably benign Het
Edc4 A G 8: 106,616,060 (GRCm39) T812A probably benign Het
Eml4 A G 17: 83,747,471 (GRCm39) I238V probably benign Het
Ep400 T C 5: 110,852,882 (GRCm39) T1288A unknown Het
Fastkd1 A C 2: 69,532,750 (GRCm39) L539R probably damaging Het
Fbln7 G A 2: 128,719,454 (GRCm39) probably benign Het
Fbxo39 A G 11: 72,209,297 (GRCm39) I386V probably benign Het
Gm17430 T C 18: 9,726,267 (GRCm39) K135R probably damaging Het
Gm3646 T A 1: 39,843,483 (GRCm39) T8S unknown Het
Gtsf1 A T 15: 103,329,619 (GRCm39) V100E possibly damaging Het
Helz2 A G 2: 180,876,618 (GRCm39) F1292S possibly damaging Het
Igf2bp3 G A 6: 49,084,401 (GRCm39) probably benign Het
Ip6k2 T G 9: 108,681,826 (GRCm39) D252E probably damaging Het
Iqck T A 7: 118,514,817 (GRCm39) L232Q probably damaging Het
Kif18b A G 11: 102,806,001 (GRCm39) V186A probably damaging Het
Klhl6 T A 16: 19,768,197 (GRCm39) probably null Het
Lao1 C T 4: 118,820,999 (GRCm39) T75I probably benign Het
Lyst T C 13: 13,855,878 (GRCm39) F2400L probably benign Het
Map3k9 A T 12: 81,780,997 (GRCm39) S388T possibly damaging Het
Mmp11 G T 10: 75,762,767 (GRCm39) H229N probably damaging Het
Myh7 T G 14: 55,212,158 (GRCm39) I1529L probably benign Het
Nckap5 G T 1: 126,623,459 (GRCm39) D11E possibly damaging Het
Ncoa1 A T 12: 4,373,033 (GRCm39) F123I probably damaging Het
Nelfb A T 2: 25,093,992 (GRCm39) D385E probably benign Het
Obscn C T 11: 58,972,810 (GRCm39) V2288M probably damaging Het
Or2f1b A G 6: 42,739,154 (GRCm39) H56R probably damaging Het
Or4d6 C T 19: 12,086,884 (GRCm39) V9M possibly damaging Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Otog T A 7: 45,918,673 (GRCm39) probably benign Het
Oxa1l A G 14: 54,605,646 (GRCm39) E375G possibly damaging Het
Pan2 T A 10: 128,144,091 (GRCm39) I129K possibly damaging Het
Parp1 A G 1: 180,426,616 (GRCm39) I919M probably benign Het
Pnpla7 T C 2: 24,885,305 (GRCm39) Y174H probably damaging Het
Polr3b T C 10: 84,473,928 (GRCm39) F169S probably damaging Het
Rab10 T C 12: 3,314,743 (GRCm39) D45G probably damaging Het
Reln A G 5: 22,185,107 (GRCm39) S1537P possibly damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stmn4 A C 14: 66,595,388 (GRCm39) I165L probably benign Het
Stx5a T C 19: 8,727,301 (GRCm39) M177T probably damaging Het
Tll1 T C 8: 64,491,486 (GRCm39) probably null Het
Tmem192 T C 8: 65,416,912 (GRCm39) Y168H probably damaging Het
Ttc21a C T 9: 119,785,892 (GRCm39) probably benign Het
Ush2a A G 1: 188,446,663 (GRCm39) probably benign Het
Vezf1 A G 11: 87,972,403 (GRCm39) M255V possibly damaging Het
Vmn2r25 A G 6: 123,816,786 (GRCm39) F265S probably damaging Het
Vps13a A G 19: 16,681,941 (GRCm39) S1021P probably benign Het
Wfdc16 T C 2: 164,477,773 (GRCm39) E92G possibly damaging Het
Zkscan2 T C 7: 123,079,423 (GRCm39) T845A possibly 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
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'- GCAGTCACGGTTCTAGATGGCATTCATA -3'
(R):5'- GCACATGCCTACTCTTCAGGTGTTTT -3'

Sequencing Primer
(F):5'- AGCTCTTGTTGCCCAAGAAATG -3'
(R):5'- TCAGGTGTTTTTTTCATATCCATTTC -3'
Posted On 2013-06-12