Incidental Mutation 'R0467:Shcbp1l'
ID 41676
Institutional Source Beutler Lab
Gene Symbol Shcbp1l
Ensembl Gene ENSMUSG00000042708
Gene Name Shc SH2-domain binding protein 1-like
Synonyms 1700012A16Rik
MMRRC Submission 038667-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R0467 (G1)
Quality Score 156
Status Validated
Chromosome 1
Chromosomal Location 153300908-153328320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 153308928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 174 (C174Y)
Ref Sequence ENSEMBL: ENSMUSP00000137625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042373] [ENSMUST00000136614]
AlphaFold Q3TTP0
Predicted Effect probably damaging
Transcript: ENSMUST00000042373
AA Change: C174Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
AA Change: C174Y

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 damaging
Transcript: ENSMUST00000136614
AA Change: C174Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
AA Change: C174Y

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Meta Mutation Damage Score 0.5720 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,532,151 (GRCm39) probably benign Het
Anapc1 A G 2: 128,510,963 (GRCm39) I511T probably damaging Het
Atf6 A T 1: 170,621,589 (GRCm39) H477Q probably damaging Het
C4b A G 17: 34,955,101 (GRCm39) V795A probably benign Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cdk12 T C 11: 98,094,405 (GRCm39) V71A probably damaging Het
Cul3 A T 1: 80,258,580 (GRCm39) D419E probably benign Het
Ddi2 A G 4: 141,412,495 (GRCm39) I139T probably benign Het
Dnaaf1 T A 8: 120,317,471 (GRCm39) D333E probably benign Het
Dnase1 A G 16: 3,857,013 (GRCm39) D7G probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Galc A C 12: 98,208,904 (GRCm39) I250R probably damaging Het
Garin1b G A 6: 29,326,606 (GRCm39) S241N probably damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm6133 A C 18: 78,393,305 (GRCm39) S100R probably benign Het
Iba57 T C 11: 59,054,265 (GRCm39) T85A probably benign Het
Ipo4 A T 14: 55,872,983 (GRCm39) M1K probably null Het
Ippk A G 13: 49,584,341 (GRCm39) probably null Het
Kcnk10 A T 12: 98,456,204 (GRCm39) I209N probably benign Het
Klk14 T C 7: 43,343,534 (GRCm39) L122P probably benign Het
Ltbp1 T A 17: 75,589,424 (GRCm39) probably null Het
Mab21l4 A T 1: 93,080,766 (GRCm39) I380N probably damaging Het
Mcm3 T C 1: 20,875,071 (GRCm39) D737G probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nalcn T A 14: 123,528,459 (GRCm39) T1456S probably benign Het
Nckap1l C T 15: 103,405,854 (GRCm39) P1097S probably benign Het
Ncoa1 A G 12: 4,317,687 (GRCm39) M1215T possibly damaging Het
Nomo1 T A 7: 45,721,911 (GRCm39) probably null Het
Obox5 T A 7: 15,491,932 (GRCm39) C116S possibly damaging Het
Or2ag2b T A 7: 106,417,568 (GRCm39) S93T possibly damaging Het
Or51a43 C T 7: 103,717,332 (GRCm39) R302H probably benign Het
Or5a1 C A 19: 12,097,900 (GRCm39) A59S probably benign Het
Pcdhb14 G T 18: 37,582,277 (GRCm39) R461L probably damaging Het
Pdgfra A G 5: 75,355,697 (GRCm39) D1069G probably damaging Het
Pgr C T 9: 8,900,779 (GRCm39) A104V possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Potegl A G 2: 23,102,832 (GRCm39) E190G possibly damaging Het
Rassf3 A G 10: 121,253,109 (GRCm39) probably benign Het
Rgs22 G T 15: 36,099,941 (GRCm39) S258* probably null Het
Rsph6a C A 7: 18,791,594 (GRCm39) D254E possibly damaging Het
Sgk1 A G 10: 21,872,257 (GRCm39) probably benign Het
Spata31g1 T C 4: 42,972,715 (GRCm39) S683P probably benign Het
Sulf1 T A 1: 12,867,144 (GRCm39) N109K probably damaging Het
Taf7l2 G A 10: 115,949,058 (GRCm39) A156V probably benign Het
Tas2r115 T A 6: 132,714,682 (GRCm39) I90L probably benign Het
Tmem200a T C 10: 25,870,002 (GRCm39) H89R probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Xrn1 T C 9: 95,906,244 (GRCm39) S1212P probably damaging Het
Zfp408 T C 2: 91,475,882 (GRCm39) Y424C possibly damaging Het
Other mutations in Shcbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Shcbp1l APN 1 153,311,553 (GRCm39) missense possibly damaging 0.79
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
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
Predicted Primers PCR Primer
(F):5'- AGGAGGTGCTTGAAAACCTGTTGG -3'
(R):5'- ACGGGTAAATTGAACCCATCAGTCTCA -3'

Sequencing Primer
(F):5'- AACCTGTTGGTATTTAATGTCTATCC -3'
(R):5'- AGCAATGTCTCGGACATCG -3'
Posted On 2013-05-23