Incidental Mutation 'R2910:Shcbp1l'
ID 261168
Institutional Source Beutler Lab
Gene Symbol Shcbp1l
Ensembl Gene ENSMUSG00000042708
Gene Name Shc SH2-domain binding protein 1-like
Synonyms 1700012A16Rik
MMRRC Submission 040497-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R2910 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 153300908-153328320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 153304372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 144 (L144I)
Ref Sequence ENSEMBL: ENSMUSP00000137625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042373] [ENSMUST00000136614]
AlphaFold Q3TTP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000042373
AA Change: L144I

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
AA Change: L144I

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: L144I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
AA Change: L144I

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Meta Mutation Damage Score 0.1445 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 96% (49/51)
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
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Acap1 A G 11: 69,777,902 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,705,238 (GRCm39) A1524V possibly damaging Het
Agbl1 A G 7: 76,069,586 (GRCm39) N121D probably benign Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Asxl1 T C 2: 153,242,959 (GRCm39) S1170P probably benign Het
Atp8b3 G A 10: 80,355,746 (GRCm39) S1322F possibly damaging Het
Car15 G A 16: 17,656,006 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Cnnm1 A G 19: 43,458,086 (GRCm39) I633V possibly damaging Het
Cog8 A T 8: 107,780,853 (GRCm39) V135E probably benign Het
Cts6 A G 13: 61,344,215 (GRCm39) V279A probably damaging Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dock2 A G 11: 34,182,910 (GRCm39) probably benign Het
Ero1b T A 13: 12,615,178 (GRCm39) D336E probably damaging Het
F11 C G 8: 45,694,486 (GRCm39) *625S probably null Het
F5 A G 1: 164,032,389 (GRCm39) M1779V probably benign Het
Fam227a A T 15: 79,520,935 (GRCm39) D296E possibly damaging Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Ggt1 G A 10: 75,416,430 (GRCm39) V275M probably benign Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Iqcm A T 8: 76,441,404 (GRCm39) I226F probably benign Het
Kcnq1 T G 7: 142,979,699 (GRCm39) L615R probably damaging Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Muc5ac C T 7: 141,361,378 (GRCm39) T1563I probably damaging Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or5ak23 T A 2: 85,244,695 (GRCm39) H176L probably damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Pkd1l3 A G 8: 110,394,268 (GRCm39) probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Sema6d C A 2: 124,506,957 (GRCm39) P941T probably damaging Het
Slc7a1 T C 5: 148,289,067 (GRCm39) E60G probably benign Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Spata31 T G 13: 65,068,250 (GRCm39) S133A probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tfpi A C 2: 84,274,437 (GRCm39) V184G possibly damaging Het
Tmeff1 C A 4: 48,614,961 (GRCm39) N139K possibly damaging Het
Tnxb A G 17: 34,891,424 (GRCm39) D589G probably damaging Het
Trpc1 C A 9: 95,631,895 (GRCm39) A16S probably benign Het
Vmn2r106 A C 17: 20,498,946 (GRCm39) L322V probably damaging Het
Vmn2r69 G T 7: 85,055,918 (GRCm39) A740D probably 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
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
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'- TCGCTGTTTAAGGCAATATTGG -3'
(R):5'- ATATCTGCCTGAGTACTACAGTTC -3'

Sequencing Primer
(F):5'- CTGGGAATTGAACTTGGATCTCACAC -3'
(R):5'- GCCTGAGTACTACAGTTCCAGATG -3'
Posted On 2015-01-23