Incidental Mutation 'R7710:Shcbp1'
ID 594544
Institutional Source Beutler Lab
Gene Symbol Shcbp1
Ensembl Gene ENSMUSG00000022322
Gene Name Shc SH2-domain binding protein 1
Synonyms mPAL
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 4785976-4829549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4814965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 171 (F171S)
Ref Sequence ENSEMBL: ENSMUSP00000022945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022945]
AlphaFold Q9Z179
Predicted Effect probably benign
Transcript: ENSMUST00000022945
AA Change: F171S

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: F171S

DomainStartEndE-ValueType
low complexity region 210 219 N/A INTRINSIC
low complexity region 262 275 N/A INTRINSIC
PbH1 428 451 8.61e3 SMART
PbH1 452 473 2.38e3 SMART
PbH1 474 496 9.62e2 SMART
PbH1 497 518 1.07e2 SMART
PbH1 526 548 1.74e2 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal viability, fertility and T cell development but show decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,150,810 (GRCm39) E151K Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Cacna2d4 A G 6: 119,251,200 (GRCm39) I463V probably benign Het
Calhm4 A T 10: 33,920,045 (GRCm39) M74K possibly damaging Het
Ccdc142 T C 6: 83,078,677 (GRCm39) S5P probably benign Het
Cd300ld C T 11: 114,875,038 (GRCm39) V199M probably damaging Het
Cep162 T C 9: 87,114,172 (GRCm39) Y300C probably damaging Het
Ces2h C T 8: 105,727,497 (GRCm39) Q5* probably null Het
Col9a3 C T 2: 180,251,158 (GRCm39) L310F probably damaging Het
Copa A G 1: 171,937,411 (GRCm39) D454G possibly damaging Het
Ctnnbip1 A C 4: 149,630,277 (GRCm39) M29L probably benign Het
Ctnnbl1 A G 2: 157,616,491 (GRCm39) D64G probably benign Het
Dcxr T A 11: 120,617,908 (GRCm39) T23S probably benign Het
Dennd1b T A 1: 138,990,670 (GRCm39) H211Q probably damaging Het
Ercc8 G A 13: 108,320,397 (GRCm39) A328T probably benign Het
Fam217a T C 13: 35,095,111 (GRCm39) D216G possibly damaging Het
Fat2 T A 11: 55,201,589 (GRCm39) Y495F probably benign Het
Fbxw13 G A 9: 109,024,968 (GRCm39) S15F probably damaging Het
Fras1 T A 5: 96,792,962 (GRCm39) C964* probably null Het
Fshr T A 17: 89,292,683 (GRCm39) H665L probably benign Het
Gm10447 A T 11: 53,347,437 (GRCm39) C31S unknown Het
Gm13272 A T 4: 88,698,586 (GRCm39) Q167L probably benign Het
Gtpbp2 T C 17: 46,478,713 (GRCm39) I510T possibly damaging Het
Hps6 G A 19: 45,993,007 (GRCm39) A315T probably benign Het
Igfbp6 A C 15: 102,056,285 (GRCm39) T115P probably damaging Het
Ikzf4 A G 10: 128,468,610 (GRCm39) V623A possibly damaging Het
Il11ra1 T C 4: 41,764,846 (GRCm39) V100A probably benign Het
Ints1 T C 5: 139,756,840 (GRCm39) T493A probably benign Het
Itgax C T 7: 127,735,028 (GRCm39) T453I probably benign Het
Kras T C 6: 145,166,354 (GRCm39) T183A probably benign Het
Lhcgr T C 17: 89,050,210 (GRCm39) T439A probably damaging Het
Lrrn4 T C 2: 132,721,451 (GRCm39) H122R probably benign Het
Muc2 A T 7: 141,287,452 (GRCm39) R210S possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo18b T C 5: 113,022,891 (GRCm39) D167G unknown Het
Nedd8 G A 14: 55,909,446 (GRCm39) probably benign Het
Or5b94 A C 19: 12,652,340 (GRCm39) Y257S probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pbxip1 T A 3: 89,355,408 (GRCm39) D642E probably damaging Het
Pcdhb10 A T 18: 37,546,654 (GRCm39) R577* probably null Het
Pcna-ps2 T A 19: 9,261,489 (GRCm39) Y249* probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pla2g6 A T 15: 79,171,358 (GRCm39) V744E probably damaging Het
Ppfibp1 A G 6: 146,897,903 (GRCm39) I207V probably benign Het
Prr11 T C 11: 86,994,433 (GRCm39) D71G probably benign Het
Rnf150 A C 8: 83,590,781 (GRCm39) Y48S probably damaging Het
Rsf1 G A 7: 97,331,041 (GRCm39) G1237D Het
Rusc2 C T 4: 43,416,119 (GRCm39) T475I probably benign Het
Scgb1b20 T A 7: 33,072,867 (GRCm39) I25N probably damaging Het
Sdr39u1 T C 14: 56,137,116 (GRCm39) N65S probably benign Het
Sh3gl3 T C 7: 81,933,294 (GRCm39) V219A possibly damaging Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Slc12a4 C T 8: 106,672,203 (GRCm39) R868H possibly damaging Het
Smg6 T C 11: 74,821,445 (GRCm39) V572A probably benign Het
Syn3 A G 10: 86,243,534 (GRCm39) V135A probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Tmem253 A T 14: 52,254,608 (GRCm39) Q21L possibly damaging Het
Trpm3 G T 19: 22,896,154 (GRCm39) R997L probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Ugt1a9 A G 1: 87,998,831 (GRCm39) T94A probably benign Het
Vmn1r62 A G 7: 5,678,182 (GRCm39) probably benign Het
Vmn2r61 T C 7: 41,916,472 (GRCm39) C362R probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp94 T C 7: 24,003,107 (GRCm39) K112E probably benign Het
Zfp954 A T 7: 7,120,889 (GRCm39) V47E probably damaging Het
Other mutations in Shcbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Shcbp1 APN 8 4,804,258 (GRCm39) nonsense probably null
IGL01330:Shcbp1 APN 8 4,786,372 (GRCm39) missense probably benign 0.00
IGL01878:Shcbp1 APN 8 4,799,721 (GRCm39) missense probably damaging 0.98
IGL02415:Shcbp1 APN 8 4,804,239 (GRCm39) missense possibly damaging 0.93
IGL02559:Shcbp1 APN 8 4,799,305 (GRCm39) missense probably damaging 0.98
IGL03171:Shcbp1 APN 8 4,789,166 (GRCm39) missense probably benign 0.05
IGL03348:Shcbp1 APN 8 4,815,089 (GRCm39) missense probably benign 0.10
R0102:Shcbp1 UTSW 8 4,794,452 (GRCm39) missense probably damaging 1.00
R0102:Shcbp1 UTSW 8 4,794,452 (GRCm39) missense probably damaging 1.00
R0729:Shcbp1 UTSW 8 4,786,297 (GRCm39) missense probably benign 0.05
R0743:Shcbp1 UTSW 8 4,814,906 (GRCm39) missense probably benign
R1413:Shcbp1 UTSW 8 4,791,968 (GRCm39) critical splice acceptor site probably null
R1630:Shcbp1 UTSW 8 4,798,763 (GRCm39) nonsense probably null
R1645:Shcbp1 UTSW 8 4,799,645 (GRCm39) missense probably benign 0.00
R3778:Shcbp1 UTSW 8 4,786,295 (GRCm39) missense probably benign 0.01
R4066:Shcbp1 UTSW 8 4,798,716 (GRCm39) missense probably damaging 0.98
R4232:Shcbp1 UTSW 8 4,786,372 (GRCm39) missense probably benign 0.06
R4524:Shcbp1 UTSW 8 4,789,193 (GRCm39) missense probably damaging 1.00
R4552:Shcbp1 UTSW 8 4,799,779 (GRCm39) nonsense probably null
R4623:Shcbp1 UTSW 8 4,789,178 (GRCm39) missense probably damaging 1.00
R4748:Shcbp1 UTSW 8 4,794,512 (GRCm39) missense probably damaging 1.00
R5093:Shcbp1 UTSW 8 4,789,214 (GRCm39) missense possibly damaging 0.68
R5152:Shcbp1 UTSW 8 4,786,138 (GRCm39) missense probably damaging 1.00
R5540:Shcbp1 UTSW 8 4,794,529 (GRCm39) missense probably damaging 1.00
R5758:Shcbp1 UTSW 8 4,799,355 (GRCm39) splice site probably null
R5878:Shcbp1 UTSW 8 4,798,742 (GRCm39) missense probably benign 0.04
R6062:Shcbp1 UTSW 8 4,814,905 (GRCm39) missense probably benign 0.13
R6366:Shcbp1 UTSW 8 4,799,380 (GRCm39) missense probably damaging 1.00
R6394:Shcbp1 UTSW 8 4,786,176 (GRCm39) missense probably damaging 0.99
R6513:Shcbp1 UTSW 8 4,794,507 (GRCm39) missense probably benign
R6696:Shcbp1 UTSW 8 4,789,262 (GRCm39) missense probably damaging 1.00
R7014:Shcbp1 UTSW 8 4,804,234 (GRCm39) missense probably damaging 1.00
R7334:Shcbp1 UTSW 8 4,804,310 (GRCm39) missense probably damaging 1.00
R7334:Shcbp1 UTSW 8 4,791,876 (GRCm39) missense probably damaging 1.00
R7420:Shcbp1 UTSW 8 4,798,737 (GRCm39) missense probably benign 0.02
R7720:Shcbp1 UTSW 8 4,798,720 (GRCm39) missense probably damaging 1.00
R7756:Shcbp1 UTSW 8 4,794,545 (GRCm39) missense probably damaging 0.97
R7769:Shcbp1 UTSW 8 4,789,232 (GRCm39) missense probably damaging 1.00
R7943:Shcbp1 UTSW 8 4,798,812 (GRCm39) missense possibly damaging 0.78
R8114:Shcbp1 UTSW 8 4,817,930 (GRCm39) missense probably damaging 1.00
R8386:Shcbp1 UTSW 8 4,817,951 (GRCm39) missense probably damaging 1.00
R8435:Shcbp1 UTSW 8 4,798,734 (GRCm39) missense probably benign 0.04
R9234:Shcbp1 UTSW 8 4,798,800 (GRCm39) missense possibly damaging 0.77
R9313:Shcbp1 UTSW 8 4,794,518 (GRCm39) missense probably damaging 1.00
X0062:Shcbp1 UTSW 8 4,789,249 (GRCm39) missense probably damaging 0.99
Z1176:Shcbp1 UTSW 8 4,815,056 (GRCm39) missense possibly damaging 0.59
Z1177:Shcbp1 UTSW 8 4,786,146 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTTAGCATCCATGACTTTTAAGTC -3'
(R):5'- AAGGCACGCTGACACATTAC -3'

Sequencing Primer
(F):5'- TATGAGGGCCTAGGTTCAAGCC -3'
(R):5'- ACTGTGTGTTTCCACTTTGATTTCTG -3'
Posted On 2019-11-12