Incidental Mutation 'IGL02588:Shcbp1l'
ID 299605
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? Probably non essential (E-score: 0.179) question?
Stock # IGL02588
Quality Score
Status
Chromosome 1
Chromosomal Location 153425162-153452574 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153428665 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 157 (K157E)
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: K157E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
AA Change: K157E

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 probably benign
Transcript: ENSMUST00000136614
AA Change: K157E

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
AA Change: K157E

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Cplx1 C A 5: 108,525,423 R44L possibly damaging Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fam84b T C 15: 60,823,150 D249G probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Lmf2 A T 15: 89,355,406 probably null Het
Mex3c A G 18: 73,590,045 N403S probably damaging Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Olfr646 C T 7: 104,107,053 T258I possibly damaging Het
Papolg T A 11: 23,890,252 I75F probably damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Slc22a17 A G 14: 54,907,994 C233R probably damaging Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Shcbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Shcbp1l APN 1 153435807 missense possibly damaging 0.79
IGL01067:Shcbp1l APN 1 153436024 missense possibly damaging 0.49
IGL02292:Shcbp1l APN 1 153436145 splice site probably benign
IGL03220:Shcbp1l APN 1 153433165 splice site probably benign
R0467:Shcbp1l UTSW 1 153433182 missense probably damaging 1.00
R0534:Shcbp1l UTSW 1 153428568 missense possibly damaging 0.78
R1192:Shcbp1l UTSW 1 153425507 missense possibly damaging 0.60
R2878:Shcbp1l UTSW 1 153437518 splice site probably benign
R2910:Shcbp1l UTSW 1 153428626 missense probably damaging 0.98
R2911:Shcbp1l UTSW 1 153428626 missense probably damaging 0.98
R3080:Shcbp1l UTSW 1 153436037 missense possibly damaging 0.95
R3854:Shcbp1l UTSW 1 153452444 missense probably damaging 1.00
R7373:Shcbp1l UTSW 1 153425240 missense probably benign 0.07
R7793:Shcbp1l UTSW 1 153447825 missense probably benign 0.00
R9415:Shcbp1l UTSW 1 153445881 missense possibly damaging 0.79
R9708:Shcbp1l UTSW 1 153452265 missense probably damaging 0.98
Z1176:Shcbp1l UTSW 1 153452274 missense probably damaging 1.00
Z1176:Shcbp1l UTSW 1 153452385 missense probably damaging 0.99
Posted On 2015-04-16