Incidental Mutation 'R0534:Shcbp1l'
ID49352
Institutional Source Beutler Lab
Gene Symbol Shcbp1l
Ensembl Gene ENSMUSG00000042708
Gene NameShc SH2-domain binding protein 1-like
Synonyms1700012A16Rik
MMRRC Submission 038726-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.276) question?
Stock #R0534 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location153425162-153452574 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 153428568 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 124 (D124E)
Ref Sequence ENSEMBL: ENSMUSP00000137625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042373] [ENSMUST00000136614]
Predicted Effect probably benign
Transcript: ENSMUST00000042373
AA Change: D124E

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
AA Change: D124E

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 possibly damaging
Transcript: ENSMUST00000136614
AA Change: D124E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
AA Change: D124E

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Meta Mutation Damage Score 0.0962 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik T C 10: 116,112,802 E273G possibly damaging Het
4933425L06Rik C A 13: 105,082,254 S32* probably null Het
Cand2 A G 6: 115,787,236 M324V probably damaging Het
Cap1 C T 4: 122,862,719 V340M probably benign Het
Ccdc110 T C 8: 45,935,138 V44A possibly damaging Het
Cps1 A G 1: 67,143,900 D139G probably benign Het
Cwc27 T A 13: 104,631,616 E457V unknown Het
Cxxc1 C T 18: 74,218,891 P280S probably benign Het
Dopey2 T A 16: 93,762,505 L595Q probably benign Het
Dscam G T 16: 96,652,172 S1292R possibly damaging Het
E2f4 C A 8: 105,304,219 F353L probably damaging Het
Ep300 A G 15: 81,600,896 probably benign Het
Fads1 C T 19: 10,183,065 P5L probably benign Het
Fign T A 2: 63,980,791 H45L probably damaging Het
Flcn T A 11: 59,794,199 probably benign Het
Gm5141 A T 13: 62,774,594 F254I probably damaging Het
Gpbp1l1 T A 4: 116,591,268 N402K probably damaging Het
Gpr37 A T 6: 25,669,824 C340* probably null Het
Gtf3c2 A T 5: 31,158,132 probably benign Het
Hcfc2 T A 10: 82,738,408 F139I probably damaging Het
Hectd4 T C 5: 121,348,476 L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 45,337,235 probably benign Het
Igf2bp1 A G 11: 95,966,796 probably benign Het
Igsf9b T G 9: 27,333,062 probably null Het
Il23r G A 6: 67,426,588 A443V probably benign Het
Kcnv1 A G 15: 45,109,249 F413L probably damaging Het
Lipe C A 7: 25,388,186 A150S possibly damaging Het
Lrrcc1 T C 3: 14,557,273 S557P probably damaging Het
Mrpl54 C A 10: 81,266,853 W13L probably damaging Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Npy1r C A 8: 66,705,018 Q327K probably damaging Het
Olfr64 C T 7: 103,893,231 R168H probably benign Het
Osbpl10 C T 9: 115,167,178 L139F probably damaging Het
P2rx6 A C 16: 17,567,904 T199P probably damaging Het
Phyhip A T 14: 70,461,759 M1L possibly damaging Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Psmc1 T A 12: 100,120,130 I342N possibly damaging Het
Reln A T 5: 21,947,408 D2353E probably damaging Het
Rmdn3 T C 2: 119,146,370 E294G probably benign Het
Scnn1g A G 7: 121,767,424 M615V probably benign Het
Sipa1l1 T C 12: 82,425,280 S1345P possibly damaging Het
Soga3 T A 10: 29,180,956 probably benign Het
St5 A T 7: 109,541,428 V197D probably damaging Het
Timp4 A G 6: 115,249,841 Y114H probably damaging Het
Tlr9 T A 9: 106,224,887 L459Q probably benign Het
Tmem104 C A 11: 115,200,828 T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 111,480,540 probably benign Het
Zfp622 A T 15: 25,984,568 I7F possibly damaging 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
IGL02588:Shcbp1l APN 1 153428665 missense probably benign 0.05
IGL03220:Shcbp1l APN 1 153433165 splice site probably benign
R0467:Shcbp1l UTSW 1 153433182 missense probably damaging 1.00
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
Z1176:Shcbp1l UTSW 1 153452274 missense probably damaging 1.00
Z1176:Shcbp1l UTSW 1 153452385 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCCGGTGGATTAATAAGCTACCTG -3'
(R):5'- GCTTCATTCAATGGACAACGCGAG -3'

Sequencing Primer
(F):5'- aagagaggggggagggg -3'
(R):5'- GAGGAAAACATACCTCGACCAGG -3'
Posted On2013-06-12