Incidental Mutation 'R0534:Shcbp1l'
ID 49352
Institutional Source Beutler Lab
Gene Symbol Shcbp1l
Ensembl Gene ENSMUSG00000042708
Gene Name Shc SH2-domain binding protein 1-like
Synonyms 1700012A16Rik
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 153300908-153328320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153304314 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3TTP0
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
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F 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
R0467:Shcbp1l UTSW 1 153,308,928 (GRCm39) missense probably damaging 1.00
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'- GCCCGGTGGATTAATAAGCTACCTG -3'
(R):5'- GCTTCATTCAATGGACAACGCGAG -3'

Sequencing Primer
(F):5'- aagagaggggggagggg -3'
(R):5'- GAGGAAAACATACCTCGACCAGG -3'
Posted On 2013-06-12