Incidental Mutation 'IGL00228:Shcbp1l'
ID 2521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shcbp1l
Ensembl Gene ENSMUSG00000042708
Gene Name Shc SH2-domain binding protein 1-like
Synonyms 1700012A16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # IGL00228
Quality Score
Status
Chromosome 1
Chromosomal Location 153300908-153328320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153311553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 258 (N258I)
Ref Sequence ENSEMBL: ENSMUSP00000137625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042373] [ENSMUST00000136614]
AlphaFold Q3TTP0
Predicted Effect probably benign
Transcript: ENSMUST00000042373
AA Change: N258I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
AA Change: N258I

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
CASH 362 522 2.85e-8 SMART
PbH1 479 500 2.3e3 SMART
PbH1 501 523 5.74e1 SMART
PbH1 524 557 2.3e3 SMART
PbH1 560 582 1.56e0 SMART
low complexity region 603 608 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082501
Predicted Effect possibly damaging
Transcript: ENSMUST00000136614
AA Change: N258I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
AA Change: N258I

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with reduced sperm, increased male germ cell apoptosis and spindle instability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 G A 13: 104,566,298 (GRCm39) G731D possibly damaging Het
Adgre4 C T 17: 56,109,135 (GRCm39) L381F probably damaging Het
Baz2a A G 10: 127,960,804 (GRCm39) T1538A probably benign Het
C1qtnf6 T C 15: 78,409,094 (GRCm39) Y251C probably damaging Het
Cgn T C 3: 94,672,855 (GRCm39) N941S probably benign Het
Clca4b T C 3: 144,638,152 (GRCm39) I37V probably benign Het
Crtc1 T C 8: 70,892,172 (GRCm39) K13E probably benign Het
Cubn A G 2: 13,461,508 (GRCm39) L673P probably damaging Het
Cyp4f18 C T 8: 72,743,771 (GRCm39) V395I probably damaging Het
Def8 A G 8: 124,186,389 (GRCm39) D400G possibly damaging Het
Dvl1 A G 4: 155,938,155 (GRCm39) D101G possibly damaging Het
Fbxw20 T A 9: 109,063,770 (GRCm39) M1L probably damaging Het
Gad2 C T 2: 22,575,398 (GRCm39) H501Y probably benign Het
Herc3 C T 6: 58,851,248 (GRCm39) P499L probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kyat3 G A 3: 142,432,018 (GRCm39) V249I probably damaging Het
Med28 A G 5: 45,680,812 (GRCm39) E92G probably damaging Het
Mtcl3 T A 10: 29,072,469 (GRCm39) L587* probably null Het
Nup155 T C 15: 8,150,939 (GRCm39) probably benign Het
Nxf1 T C 19: 8,740,106 (GRCm39) I91T possibly damaging Het
Or8g50 T C 9: 39,648,795 (GRCm39) I228T probably damaging Het
Orc5 T A 5: 22,728,537 (GRCm39) T305S probably damaging Het
Psme4 T C 11: 30,765,710 (GRCm39) probably null Het
Rtca A G 3: 116,298,110 (GRCm39) C100R probably damaging Het
Septin14 G T 5: 129,760,715 (GRCm39) H377N probably benign Het
Shisa4 A C 1: 135,301,023 (GRCm39) S82R probably damaging Het
Slc38a10 C T 11: 120,029,814 (GRCm39) V167M probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Spata18 G A 5: 73,815,097 (GRCm39) E69K possibly damaging Het
Srsf2 A C 11: 116,743,096 (GRCm39) probably benign Het
Taf1b T A 12: 24,597,066 (GRCm39) V335E possibly damaging Het
Tenm4 G A 7: 96,517,216 (GRCm39) V1399I probably benign Het
Topbp1 C T 9: 103,222,142 (GRCm39) R1338C probably benign Het
Ugt1a5 A G 1: 88,094,162 (GRCm39) E130G probably benign Het
Wdfy2 T A 14: 63,181,526 (GRCm39) S219T probably damaging Het
Zbtb38 C A 9: 96,569,547 (GRCm39) R512S probably damaging Het
Zfp574 T C 7: 24,781,015 (GRCm39) V679A probably benign Het
Other mutations in Shcbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Shcbp1l APN 1 153,311,770 (GRCm39) missense possibly damaging 0.49
IGL02292:Shcbp1l APN 1 153,311,891 (GRCm39) splice site probably benign
IGL02588:Shcbp1l APN 1 153,304,411 (GRCm39) missense probably benign 0.05
IGL03220:Shcbp1l APN 1 153,308,911 (GRCm39) splice site probably benign
R0467:Shcbp1l UTSW 1 153,308,928 (GRCm39) missense probably damaging 1.00
R0534:Shcbp1l UTSW 1 153,304,314 (GRCm39) missense possibly damaging 0.78
R1192:Shcbp1l UTSW 1 153,301,253 (GRCm39) missense possibly damaging 0.60
R2878:Shcbp1l UTSW 1 153,313,264 (GRCm39) splice site probably benign
R2910:Shcbp1l UTSW 1 153,304,372 (GRCm39) missense probably damaging 0.98
R2911:Shcbp1l UTSW 1 153,304,372 (GRCm39) missense probably damaging 0.98
R3080:Shcbp1l UTSW 1 153,311,783 (GRCm39) missense possibly damaging 0.95
R3854:Shcbp1l UTSW 1 153,328,190 (GRCm39) missense probably damaging 1.00
R7373:Shcbp1l UTSW 1 153,300,986 (GRCm39) missense probably benign 0.07
R7793:Shcbp1l UTSW 1 153,323,571 (GRCm39) missense probably benign 0.00
R9415:Shcbp1l UTSW 1 153,321,627 (GRCm39) missense possibly damaging 0.79
R9708:Shcbp1l UTSW 1 153,328,011 (GRCm39) missense probably damaging 0.98
Z1176:Shcbp1l UTSW 1 153,328,131 (GRCm39) missense probably damaging 0.99
Z1176:Shcbp1l UTSW 1 153,328,020 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09