Incidental Mutation 'IGL03171:Shcbp1'
ID 411850
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03171
Quality Score
Status
Chromosome 8
Chromosomal Location 4785976-4829549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4789166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 551 (I551T)
Ref Sequence ENSEMBL: ENSMUSP00000022945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022945]
AlphaFold Q9Z179
Predicted Effect probably benign
Transcript: ENSMUST00000022945
AA Change: I551T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: I551T

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 noncoding transcript
Transcript: ENSMUST00000207665
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,139,377 (GRCm39) F434Y possibly damaging Het
Adam19 G T 11: 46,029,681 (GRCm39) A709S probably damaging Het
Adgrf3 A T 5: 30,401,292 (GRCm39) L42Q probably damaging Het
D430041D05Rik T C 2: 104,071,508 (GRCm39) N1264S possibly damaging Het
Dnah9 T G 11: 65,872,067 (GRCm39) K2721T probably benign Het
Efr3b C T 12: 4,018,622 (GRCm39) A575T probably benign Het
Esco1 T C 18: 10,594,263 (GRCm39) E341G probably damaging Het
Ezh2 G A 6: 47,517,715 (GRCm39) R574* probably null Het
Fam169a G T 13: 97,246,522 (GRCm39) probably benign Het
Fry T C 5: 150,304,274 (GRCm39) Y555H probably damaging Het
Gm17175 A C 14: 51,809,065 (GRCm39) S100R probably damaging Het
Gm527 T C 12: 64,967,931 (GRCm39) Y118H probably damaging Het
H2-M10.4 G T 17: 36,772,142 (GRCm39) T202N probably damaging Het
Ift70a1 C T 2: 75,810,851 (GRCm39) A411T probably benign Het
Igf1 A T 10: 87,700,683 (GRCm39) T36S probably damaging Het
Ints8 C T 4: 11,231,702 (GRCm39) V428I probably benign Het
Itga6 G A 2: 71,671,673 (GRCm39) probably null Het
Jmjd1c A G 10: 67,061,277 (GRCm39) E1210G possibly damaging Het
Kdm2a A T 19: 4,406,792 (GRCm39) V134E probably damaging Het
Limch1 C A 5: 67,191,537 (GRCm39) N947K possibly damaging Het
Met T C 6: 17,562,272 (GRCm39) probably benign Het
Neb A G 2: 52,106,376 (GRCm39) probably benign Het
Ogg1 A G 6: 113,310,375 (GRCm39) I274V possibly damaging Het
Ola1 A T 2: 72,987,197 (GRCm39) I145K probably benign Het
Or2r11 G A 6: 42,437,464 (GRCm39) T163I possibly damaging Het
Pacrg A G 17: 10,795,462 (GRCm39) V166A possibly damaging Het
Pira2 T A 7: 3,845,604 (GRCm39) E260V probably damaging Het
Prickle3 T C X: 7,531,526 (GRCm39) C277R probably damaging Het
Psen1 A G 12: 83,761,638 (GRCm39) T147A probably damaging Het
Pxk C T 14: 8,151,014 (GRCm38) probably benign Het
Scn11a G A 9: 119,648,913 (GRCm39) P50L probably benign Het
Scn4a C A 11: 106,236,418 (GRCm39) V281L probably benign Het
Snx13 T A 12: 35,150,539 (GRCm39) I281N probably benign Het
Spata31e4 T A 13: 50,856,388 (GRCm39) S675R probably benign Het
Spopfm1 C A 3: 94,173,762 (GRCm39) H257N probably benign Het
Tdo2 T C 3: 81,874,336 (GRCm39) K209E probably benign Het
Trip6 C T 5: 137,311,146 (GRCm39) R190Q probably benign Het
Ubqln1 T A 13: 58,328,672 (GRCm39) E426D probably damaging Het
Zfp607b C A 7: 27,393,020 (GRCm39) N49K possibly 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
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
R7710:Shcbp1 UTSW 8 4,814,965 (GRCm39) missense probably benign 0.14
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
Posted On 2016-08-02