Incidental Mutation 'IGL01067:Shcbp1l'
ID 50187
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 # IGL01067
Quality Score
Status
Chromosome 1
Chromosomal Location 153300908-153328320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 153311770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 308 (S308R)
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: S308R

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
AA Change: S308R

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: S308R

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
AA Change: S308R

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
A330008L17Rik T C 8: 100,148,586 (GRCm39) noncoding transcript Het
Acp4 C T 7: 43,902,876 (GRCm39) V331I probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Alg6 T C 4: 99,629,807 (GRCm39) V128A probably benign Het
Ank3 A G 10: 69,686,026 (GRCm39) K280E probably damaging Het
Bfar T C 16: 13,503,105 (GRCm39) C36R probably damaging Het
Car14 A G 3: 95,806,128 (GRCm39) I311T probably damaging Het
Cd300c T C 11: 114,851,253 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,096 (GRCm39) E513V probably damaging Het
Clip1 C A 5: 123,768,867 (GRCm39) K612N probably damaging Het
Depdc5 A G 5: 33,056,411 (GRCm39) probably null Het
Dock3 A T 9: 106,959,572 (GRCm39) probably null Het
Dph6 A T 2: 114,478,290 (GRCm39) M17K probably damaging Het
Enkur T C 2: 21,194,042 (GRCm39) Q177R probably benign Het
Faap100 T C 11: 120,262,958 (GRCm39) H800R probably damaging Het
Fastkd2 T G 1: 63,776,930 (GRCm39) probably benign Het
Fcgr2b A T 1: 170,795,622 (GRCm39) N102K possibly damaging Het
Fezf1 C T 6: 23,247,842 (GRCm39) V78I possibly damaging Het
Fmn2 A T 1: 174,330,885 (GRCm39) D425V unknown Het
Fnta G A 8: 26,497,229 (GRCm39) Q207* probably null Het
Fpr3 T A 17: 18,190,828 (GRCm39) V33D probably benign Het
Fshr C T 17: 89,292,821 (GRCm39) C619Y possibly damaging Het
Gbp3 T C 3: 142,272,358 (GRCm39) probably null Het
Gjb2 A G 14: 57,337,629 (GRCm39) V193A possibly damaging Het
Il4ra A G 7: 125,174,333 (GRCm39) T292A probably benign Het
Lama5 A G 2: 179,818,336 (GRCm39) probably benign Het
Marveld3 G T 8: 110,688,596 (GRCm39) D48E possibly damaging Het
Meox1 A T 11: 101,784,599 (GRCm39) I78N probably benign Het
Ncor1 A T 11: 62,283,354 (GRCm39) H444Q probably damaging Het
Ndst3 T C 3: 123,340,466 (GRCm39) Q784R probably damaging Het
Or10ag2 A G 2: 87,248,714 (GRCm39) I107M probably benign Het
Or4k44 T A 2: 111,368,359 (GRCm39) I92F probably damaging Het
Pld5 A T 1: 176,102,445 (GRCm39) probably benign Het
Plk1 G A 7: 121,768,148 (GRCm39) R456H probably damaging Het
Polr2a T A 11: 69,638,840 (GRCm39) I65F possibly damaging Het
Ptprd T A 4: 75,977,922 (GRCm39) I196F probably damaging Het
Qsox2 T C 2: 26,118,408 (GRCm39) N121S probably damaging Het
Reln A G 5: 22,184,664 (GRCm39) L1617S probably damaging Het
Rragc T C 4: 123,823,761 (GRCm39) F345L probably benign Het
Sass6 A T 3: 116,407,605 (GRCm39) E240D possibly damaging Het
Slc1a5 T A 7: 16,520,804 (GRCm39) C224* probably null Het
Slc27a5 T C 7: 12,722,999 (GRCm39) E567G probably damaging Het
Synj2 T A 17: 6,088,201 (GRCm39) N1417K possibly damaging Het
Tbc1d9 A G 8: 83,960,791 (GRCm39) T214A probably damaging Het
Tjp3 C A 10: 81,109,699 (GRCm39) V835L probably benign Het
Trpc4 C A 3: 54,129,983 (GRCm39) Q250K probably benign Het
Ttn A T 2: 76,575,506 (GRCm39) I25129N probably damaging Het
Ube4a T A 9: 44,856,163 (GRCm39) Y523F probably damaging Het
Zfp971 G A 2: 177,665,175 (GRCm39) probably null Het
Other mutations in Shcbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Shcbp1l APN 1 153,311,553 (GRCm39) missense possibly damaging 0.79
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 2013-06-21