Incidental Mutation 'IGL02415:Shcbp1'
ID292386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shcbp1
Ensembl Gene ENSMUSG00000022322
Gene NameShc SH2-domain binding protein 1
SynonymsmPAL
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02415
Quality Score
Status
Chromosome8
Chromosomal Location4735976-4779567 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4754239 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 224 (V224I)
Ref Sequence ENSEMBL: ENSMUSP00000022945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022945]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022945
AA Change: V224I

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: V224I

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 unknown
Transcript: ENSMUST00000207262
AA Change: V152I
Predicted Effect probably benign
Transcript: ENSMUST00000207876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208856
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
E2f5 T A 3: 14,603,897 V283E probably benign Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Fam102b A G 3: 108,980,292 Y219H probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Med12 T C X: 101,281,790 V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 R67G probably damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Stx6 A G 1: 155,193,313 E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 D90E possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly damaging Het
Other mutations in Shcbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Shcbp1 APN 8 4754258 nonsense probably null
IGL01330:Shcbp1 APN 8 4736372 missense probably benign 0.00
IGL01878:Shcbp1 APN 8 4749721 missense probably damaging 0.98
IGL02559:Shcbp1 APN 8 4749305 missense probably damaging 0.98
IGL03171:Shcbp1 APN 8 4739166 missense probably benign 0.05
IGL03348:Shcbp1 APN 8 4765089 missense probably benign 0.10
R0102:Shcbp1 UTSW 8 4744452 missense probably damaging 1.00
R0102:Shcbp1 UTSW 8 4744452 missense probably damaging 1.00
R0729:Shcbp1 UTSW 8 4736297 missense probably benign 0.05
R0743:Shcbp1 UTSW 8 4764906 missense probably benign
R1413:Shcbp1 UTSW 8 4741968 critical splice acceptor site probably null
R1630:Shcbp1 UTSW 8 4748763 nonsense probably null
R1645:Shcbp1 UTSW 8 4749645 missense probably benign 0.00
R3778:Shcbp1 UTSW 8 4736295 missense probably benign 0.01
R4066:Shcbp1 UTSW 8 4748716 missense probably damaging 0.98
R4232:Shcbp1 UTSW 8 4736372 missense probably benign 0.06
R4524:Shcbp1 UTSW 8 4739193 missense probably damaging 1.00
R4552:Shcbp1 UTSW 8 4749779 nonsense probably null
R4623:Shcbp1 UTSW 8 4739178 missense probably damaging 1.00
R4748:Shcbp1 UTSW 8 4744512 missense probably damaging 1.00
R5093:Shcbp1 UTSW 8 4739214 missense possibly damaging 0.68
R5152:Shcbp1 UTSW 8 4736138 missense probably damaging 1.00
R5540:Shcbp1 UTSW 8 4744529 missense probably damaging 1.00
R5758:Shcbp1 UTSW 8 4749355 splice site probably null
R5878:Shcbp1 UTSW 8 4748742 missense probably benign 0.04
R6062:Shcbp1 UTSW 8 4764905 missense probably benign 0.13
R6366:Shcbp1 UTSW 8 4749380 missense probably damaging 1.00
R6394:Shcbp1 UTSW 8 4736176 missense probably damaging 0.99
R6513:Shcbp1 UTSW 8 4744507 missense probably benign
R6696:Shcbp1 UTSW 8 4739262 missense probably damaging 1.00
R7014:Shcbp1 UTSW 8 4754234 missense probably damaging 1.00
R7334:Shcbp1 UTSW 8 4741876 missense probably damaging 1.00
R7334:Shcbp1 UTSW 8 4754310 missense probably damaging 1.00
R7420:Shcbp1 UTSW 8 4748737 missense probably benign 0.02
R7710:Shcbp1 UTSW 8 4764965 missense probably benign 0.14
R7720:Shcbp1 UTSW 8 4748720 missense probably damaging 1.00
R7756:Shcbp1 UTSW 8 4744545 missense probably damaging 0.97
R7769:Shcbp1 UTSW 8 4739232 missense probably damaging 1.00
R7943:Shcbp1 UTSW 8 4748812 missense possibly damaging 0.78
R8114:Shcbp1 UTSW 8 4767930 missense probably damaging 1.00
R8386:Shcbp1 UTSW 8 4767951 missense probably damaging 1.00
R8435:Shcbp1 UTSW 8 4748734 missense probably benign 0.04
X0062:Shcbp1 UTSW 8 4739249 missense probably damaging 0.99
Z1176:Shcbp1 UTSW 8 4765056 missense possibly damaging 0.59
Z1177:Shcbp1 UTSW 8 4736146 missense probably damaging 1.00
Posted On2015-04-16