Incidental Mutation 'R3121:Spidr'
ID 263251
Institutional Source Beutler Lab
Gene Symbol Spidr
Ensembl Gene ENSMUSG00000041974
Gene Name scaffolding protein involved in DNA repair
Synonyms 2310008H04Rik
MMRRC Submission 040594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3121 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 15707088-15964715 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15958724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 13 (K13E)
Ref Sequence ENSEMBL: ENSMUSP00000038820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040248]
AlphaFold Q8BGX7
Predicted Effect probably damaging
Transcript: ENSMUST00000040248
AA Change: K13E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: K13E

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 0.0912 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,966,091 (GRCm39) M423K probably benign Het
Adamtsl1 T A 4: 86,255,246 (GRCm39) W780R probably damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Amph T A 13: 19,297,316 (GRCm39) L354* probably null Het
Ankk1 G A 9: 49,338,267 (GRCm39) L9F probably benign Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Bzw2 A C 12: 36,170,788 (GRCm39) probably null Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc50 G T 16: 27,228,139 (GRCm39) R102L possibly damaging Het
Cep83 T C 10: 94,622,700 (GRCm39) V592A probably damaging Het
Cgn G A 3: 94,685,792 (GRCm39) probably benign Het
Cidec C A 6: 113,405,086 (GRCm39) V195L probably benign Het
Cntln A G 4: 84,923,289 (GRCm39) probably benign Het
Cntrob A T 11: 69,213,526 (GRCm39) L88* probably null Het
Dnah17 C T 11: 117,931,912 (GRCm39) V3687M probably damaging Het
Dst T C 1: 34,328,729 (GRCm39) I4599T probably damaging Het
Dtl A T 1: 191,285,175 (GRCm39) Y320* probably null Het
Fam98b A G 2: 117,098,408 (GRCm39) T293A probably damaging Het
Farp1 G A 14: 121,460,138 (GRCm39) probably benign Het
Fat2 G T 11: 55,202,622 (GRCm39) P151T probably damaging Het
Fbxl17 A T 17: 63,778,419 (GRCm39) M497K probably damaging Het
Foxn4 T C 5: 114,396,776 (GRCm39) T236A probably damaging Het
Gm525 C T 11: 88,979,374 (GRCm39) probably benign Het
Golga4 C A 9: 118,386,448 (GRCm39) T1190K possibly damaging Het
H2-T23 T A 17: 36,341,855 (GRCm39) M248L probably benign Het
Homez T C 14: 55,094,778 (GRCm39) E310G probably benign Het
Hydin A G 8: 111,233,138 (GRCm39) I1746V probably benign Het
Igkv1-35 T A 6: 69,988,641 (GRCm39) H6L probably benign Het
Kcnt2 T C 1: 140,356,622 (GRCm39) S354P probably damaging Het
Khdc4 A G 3: 88,596,599 (GRCm39) T127A probably damaging Het
Klra4 G T 6: 130,040,141 (GRCm39) Q44K probably benign Het
L3mbtl3 A G 10: 26,220,119 (GRCm39) probably benign Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Magea14 A T X: 51,057,968 (GRCm39) Y239* probably null Het
Map3k9 A G 12: 81,790,698 (GRCm39) I285T probably damaging Het
Or4a47 T A 2: 89,665,858 (GRCm39) I144L probably benign Het
Or6c6 A G 10: 129,186,552 (GRCm39) N40S possibly damaging Het
Pcdhb16 A T 18: 37,611,271 (GRCm39) Q77L possibly damaging Het
Pramel20 T A 4: 143,297,583 (GRCm39) M1K probably null Het
Proser3 A G 7: 30,239,796 (GRCm39) V436A probably benign Het
Relch A G 1: 105,653,524 (GRCm39) N834S probably benign Het
Resf1 T A 6: 149,230,741 (GRCm39) C1262* probably null Het
Sec24b C T 3: 129,795,953 (GRCm39) probably null Het
Slc2a2 A G 3: 28,775,898 (GRCm39) Q336R probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Tiam2 T A 17: 3,489,977 (GRCm39) M786K probably benign Het
Tktl2 T A 8: 66,964,808 (GRCm39) V122E probably damaging Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Zbbx T C 3: 74,989,153 (GRCm39) T317A possibly damaging Het
Zfp976 A G 7: 42,262,938 (GRCm39) C300R 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
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'- TCATGACAATAGCTTTCTTACCAGG -3'
(R):5'- GGGCCTTGAATTCCTGATCTG -3'

Sequencing Primer
(F):5'- GATCTCAGAGGTGTCCTGAAATCC -3'
(R):5'- ACGTGTTGTATTTTGTCAAATGCC -3'
Posted On 2015-02-05