Incidental Mutation 'IGL02142:Spidr'
ID 281633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spidr
Ensembl Gene ENSMUSG00000041974
Gene Name scaffolding protein involved in DNA repair
Synonyms 2310008H04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02142
Quality Score
Status
Chromosome 16
Chromosomal Location 15707088-15964715 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15865945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 288 (Q288L)
Ref Sequence ENSEMBL: ENSMUSP00000038820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040248]
AlphaFold Q8BGX7
Predicted Effect probably benign
Transcript: ENSMUST00000040248
AA Change: Q288L

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: Q288L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,963,575 (GRCm39) S2060P probably benign Het
Abcg4 A G 9: 44,189,014 (GRCm39) F426S probably benign Het
Actn1 C T 12: 80,222,929 (GRCm39) probably null Het
Adgrd1 T A 5: 129,208,648 (GRCm39) H251Q probably benign Het
Adgrg3 C T 8: 95,766,483 (GRCm39) P385S probably damaging Het
Ampd2 G T 3: 107,987,660 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,155,360 (GRCm39) S86P probably damaging Het
Art5 C T 7: 101,747,123 (GRCm39) E121K probably null Het
Atad5 G A 11: 79,985,023 (GRCm39) E37K probably benign Het
Atp13a5 A G 16: 29,053,315 (GRCm39) V1084A probably benign Het
Cfap44 T C 16: 44,241,507 (GRCm39) I626T probably benign Het
Col16a1 T A 4: 129,945,440 (GRCm39) probably null Het
Defa22 T G 8: 21,653,130 (GRCm39) C81G possibly damaging Het
Dnm2 A G 9: 21,411,649 (GRCm39) Y622C probably damaging Het
Efna5 T A 17: 62,914,340 (GRCm39) L201F unknown Het
Elac1 T C 18: 73,871,991 (GRCm39) R335G probably benign Het
Enpp5 T C 17: 44,396,468 (GRCm39) V460A probably benign Het
Esr2 A G 12: 76,169,969 (GRCm39) V453A probably benign Het
Fam210b T A 2: 172,194,497 (GRCm39) probably benign Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Fcrlb A G 1: 170,736,248 (GRCm39) V176A probably damaging Het
Gabrq T A X: 71,879,783 (GRCm39) V256E possibly damaging Het
Gba1 T C 3: 89,113,148 (GRCm39) L193P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Helq A G 5: 100,930,960 (GRCm39) F597L probably benign Het
Hrh1 A T 6: 114,457,204 (GRCm39) I162L probably damaging Het
Jph1 A T 1: 17,161,884 (GRCm39) F259L probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Kdm4c T A 4: 74,225,253 (GRCm39) probably null Het
Kif13a T C 13: 46,925,011 (GRCm39) T308A probably benign Het
Lars1 C T 18: 42,360,345 (GRCm39) V704M probably benign Het
Lcmt2 A G 2: 120,969,394 (GRCm39) L343P possibly damaging Het
Lhfpl1 A G X: 144,123,733 (GRCm39) F125L probably benign Het
Lmbrd2 C A 15: 9,186,772 (GRCm39) D582E probably damaging Het
Lrrn2 T A 1: 132,866,983 (GRCm39) S683T possibly damaging Het
Macf1 T C 4: 123,365,842 (GRCm39) D1408G probably benign Het
Magi3 T C 3: 103,923,219 (GRCm39) K1166R probably benign Het
Marchf5 T C 19: 37,197,892 (GRCm39) probably benign Het
Ms4a20 G A 19: 11,087,695 (GRCm39) Q79* probably null Het
Naa25 A G 5: 121,564,825 (GRCm39) Q555R possibly damaging Het
Npat A G 9: 53,481,207 (GRCm39) T1005A probably benign Het
Nt5c3 G A 6: 56,863,670 (GRCm39) A108V probably damaging Het
Ocrl T A X: 47,024,995 (GRCm39) M322K probably damaging Het
Odad2 C A 18: 7,214,601 (GRCm39) W733C probably damaging Het
Or8g2 A G 9: 39,821,935 (GRCm39) T279A possibly damaging Het
Psg23 A T 7: 18,344,345 (GRCm39) V370E probably benign Het
Rassf2 A T 2: 131,838,353 (GRCm39) M311K possibly damaging Het
Rhobtb3 A G 13: 76,025,614 (GRCm39) Y501H probably damaging Het
Rpl4 A G 9: 64,083,488 (GRCm39) D179G possibly damaging Het
Scn2a T A 2: 65,546,182 (GRCm39) I915N probably damaging Het
Scn3a T A 2: 65,356,965 (GRCm39) T160S possibly damaging Het
Slx4ip T G 2: 136,909,942 (GRCm39) N242K possibly damaging Het
Sun1 A T 5: 139,216,918 (GRCm39) H255L possibly damaging Het
Tacc1 C T 8: 25,665,233 (GRCm39) G51S probably damaging Het
Tet2 T A 3: 133,185,900 (GRCm39) N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,101,752 (GRCm39) Y349C probably damaging Het
Tnrc6a T C 7: 122,751,414 (GRCm39) probably benign Het
Trim32 T C 4: 65,532,736 (GRCm39) L431P probably damaging Het
Vmn1r35 A G 6: 66,656,334 (GRCm39) L112S probably damaging Het
Vmn2r100 A C 17: 19,742,583 (GRCm39) H319P probably damaging Het
Wdr20rt A G 12: 65,274,039 (GRCm39) T328A probably benign Het
Zbtb17 T C 4: 141,192,293 (GRCm39) Y413H probably benign 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
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
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
Posted On 2015-04-16