Incidental Mutation 'IGL00485:Pramel31'
ID 6531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel31
Ensembl Gene ENSMUSG00000070619
Gene Name PRAME like 31
Synonyms Gm13119
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00485
Quality Score
Status
Chromosome 4
Chromosomal Location 144084534-144090989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144090012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 351 (V351I)
Ref Sequence ENSEMBL: ENSMUSP00000092103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094526]
AlphaFold B1ARV5
Predicted Effect probably damaging
Transcript: ENSMUST00000094526
AA Change: V351I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: V351I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 3e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Pramel31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Pramel31 APN 4 144,089,100 (GRCm39) missense possibly damaging 0.91
IGL01025:Pramel31 APN 4 144,089,947 (GRCm39) missense probably damaging 1.00
IGL01102:Pramel31 APN 4 144,090,195 (GRCm39) missense probably benign 0.08
IGL01631:Pramel31 APN 4 144,089,015 (GRCm39) missense probably benign 0.12
IGL02228:Pramel31 APN 4 144,089,231 (GRCm39) missense probably damaging 1.00
IGL02708:Pramel31 APN 4 144,089,983 (GRCm39) missense probably damaging 1.00
IGL02827:Pramel31 APN 4 144,090,331 (GRCm39) missense probably damaging 1.00
IGL03398:Pramel31 APN 4 144,090,061 (GRCm39) missense probably damaging 1.00
R0403:Pramel31 UTSW 4 144,089,216 (GRCm39) missense probably benign 0.00
R0627:Pramel31 UTSW 4 144,089,416 (GRCm39) missense probably benign 0.03
R0632:Pramel31 UTSW 4 144,090,352 (GRCm39) missense probably damaging 1.00
R1783:Pramel31 UTSW 4 144,088,295 (GRCm39) missense probably benign 0.01
R1895:Pramel31 UTSW 4 144,088,435 (GRCm39) missense probably benign 0.11
R1946:Pramel31 UTSW 4 144,088,435 (GRCm39) missense probably benign 0.11
R2263:Pramel31 UTSW 4 144,090,111 (GRCm39) missense probably benign 0.00
R2389:Pramel31 UTSW 4 144,089,983 (GRCm39) missense probably damaging 1.00
R2435:Pramel31 UTSW 4 144,089,473 (GRCm39) missense possibly damaging 0.75
R3013:Pramel31 UTSW 4 144,089,025 (GRCm39) missense probably damaging 0.98
R3021:Pramel31 UTSW 4 144,088,369 (GRCm39) missense probably damaging 0.99
R3106:Pramel31 UTSW 4 144,088,246 (GRCm39) missense probably benign 0.04
R5237:Pramel31 UTSW 4 144,089,041 (GRCm39) nonsense probably null
R5411:Pramel31 UTSW 4 144,088,207 (GRCm39) start codon destroyed probably null 1.00
R5532:Pramel31 UTSW 4 144,090,061 (GRCm39) missense probably damaging 1.00
R6229:Pramel31 UTSW 4 144,090,199 (GRCm39) missense probably benign 0.03
R6277:Pramel31 UTSW 4 144,090,223 (GRCm39) missense probably damaging 1.00
R6625:Pramel31 UTSW 4 144,090,369 (GRCm39) missense probably damaging 1.00
R6717:Pramel31 UTSW 4 144,089,227 (GRCm39) missense probably benign 0.00
R7103:Pramel31 UTSW 4 144,090,297 (GRCm39) missense probably benign 0.00
R7207:Pramel31 UTSW 4 144,088,473 (GRCm39) missense probably benign 0.08
R8934:Pramel31 UTSW 4 144,090,345 (GRCm39) missense possibly damaging 0.54
R9325:Pramel31 UTSW 4 144,089,093 (GRCm39) missense probably benign
R9411:Pramel31 UTSW 4 144,089,997 (GRCm39) missense probably benign 0.00
Z1177:Pramel31 UTSW 4 144,089,543 (GRCm39) missense possibly damaging 0.89
Posted On 2012-04-20