Incidental Mutation 'IGL02291:Semp2l2a'
ID 290312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Semp2l2a
Ensembl Gene ENSMUSG00000057116
Gene Name SUMO/sentrin specific peptidase 2-like 2A
Synonyms AF366264
Accession Numbers
Essential gene? Possibly essential (E-score: 0.535) question?
Stock # IGL02291
Quality Score
Status
Chromosome 8
Chromosomal Location 13885233-13888389 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13887704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 129 (N129I)
Ref Sequence ENSEMBL: ENSMUSP00000096518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071308]
AlphaFold G3X9P9
Predicted Effect probably benign
Transcript: ENSMUST00000071308
AA Change: N129I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: N129I

DomainStartEndE-ValueType
Pfam:Peptidase_C48 322 501 1.9e-45 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 T A 8: 78,109,344 (GRCm39) probably benign Het
Cfap161 C T 7: 83,440,847 (GRCm39) G135D probably benign Het
Cpne1 A G 2: 155,920,340 (GRCm39) V179A probably damaging Het
Cpsf1 A T 15: 76,487,021 (GRCm39) I219N probably damaging Het
Creb3l4 T G 3: 90,149,290 (GRCm39) R139S probably benign Het
Fer1l4 T C 2: 155,861,458 (GRCm39) K1929E probably damaging Het
Gm5431 A G 11: 48,779,791 (GRCm39) L655P probably damaging Het
Igsf3 T G 3: 101,346,845 (GRCm39) H613Q probably damaging Het
Kcnab1 T C 3: 65,264,503 (GRCm39) Y251H possibly damaging Het
Kmt2d T C 15: 98,763,373 (GRCm39) probably benign Het
Krt17 A T 11: 100,147,319 (GRCm39) V404E probably benign Het
Lipo2 A G 19: 33,723,192 (GRCm39) I199T possibly damaging Het
Mks1 T A 11: 87,750,493 (GRCm39) probably benign Het
Nlrp1a A T 11: 71,013,415 (GRCm39) probably null Het
Nup210 T C 6: 91,078,250 (GRCm39) D100G probably damaging Het
Or13a21 A T 7: 139,999,200 (GRCm39) L162Q probably damaging Het
Or1o11 G A 17: 37,757,176 (GRCm39) V255I possibly damaging Het
Or2y1g T A 11: 49,171,812 (GRCm39) I279N probably damaging Het
Or7h8 T C 9: 20,124,098 (GRCm39) I151T probably benign Het
Psmd5 A G 2: 34,747,811 (GRCm39) V282A probably benign Het
Rasal3 A T 17: 32,612,711 (GRCm39) probably benign Het
Rnf10 T C 5: 115,398,255 (GRCm39) N93D probably damaging Het
Slc7a9 G A 7: 35,156,439 (GRCm39) G294R probably damaging Het
Taf7 C T 18: 37,776,415 (GRCm39) G51R possibly damaging Het
Tas2r126 G A 6: 42,412,221 (GRCm39) M251I probably benign Het
Trim33 T C 3: 103,234,181 (GRCm39) F473S probably damaging Het
Vmn1r127 A G 7: 21,052,999 (GRCm39) L263P possibly damaging Het
Vmn1r234 G A 17: 21,449,193 (GRCm39) V36I probably benign Het
Vmn2r84 T A 10: 130,226,617 (GRCm39) H407L probably damaging Het
Other mutations in Semp2l2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02647:Semp2l2a APN 8 13,886,979 (GRCm39) missense probably damaging 0.96
IGL03118:Semp2l2a APN 8 13,888,096 (GRCm39) utr 5 prime probably benign
FR4342:Semp2l2a UTSW 8 13,887,613 (GRCm39) missense probably benign 0.00
R0636:Semp2l2a UTSW 8 13,887,870 (GRCm39) missense probably benign 0.00
R1796:Semp2l2a UTSW 8 13,886,816 (GRCm39) nonsense probably null
R1913:Semp2l2a UTSW 8 13,887,143 (GRCm39) missense probably benign 0.16
R2353:Semp2l2a UTSW 8 13,886,951 (GRCm39) missense probably damaging 1.00
R2944:Semp2l2a UTSW 8 13,887,212 (GRCm39) missense probably damaging 1.00
R3714:Semp2l2a UTSW 8 13,886,736 (GRCm39) missense probably benign 0.04
R4222:Semp2l2a UTSW 8 13,888,061 (GRCm39) missense probably benign
R4628:Semp2l2a UTSW 8 13,886,625 (GRCm39) missense probably damaging 1.00
R4801:Semp2l2a UTSW 8 13,886,970 (GRCm39) missense possibly damaging 0.93
R4802:Semp2l2a UTSW 8 13,886,970 (GRCm39) missense possibly damaging 0.93
R4836:Semp2l2a UTSW 8 13,888,007 (GRCm39) missense probably benign
R5143:Semp2l2a UTSW 8 13,886,844 (GRCm39) missense possibly damaging 0.87
R5637:Semp2l2a UTSW 8 13,887,713 (GRCm39) missense possibly damaging 0.46
R5930:Semp2l2a UTSW 8 13,887,263 (GRCm39) missense probably benign 0.06
R6540:Semp2l2a UTSW 8 13,887,573 (GRCm39) missense probably benign 0.07
R6556:Semp2l2a UTSW 8 13,887,690 (GRCm39) nonsense probably null
R6724:Semp2l2a UTSW 8 13,887,083 (GRCm39) missense probably damaging 1.00
R7131:Semp2l2a UTSW 8 13,886,982 (GRCm39) missense probably damaging 0.98
R7148:Semp2l2a UTSW 8 13,887,996 (GRCm39) missense probably benign 0.01
R7660:Semp2l2a UTSW 8 13,887,995 (GRCm39) missense probably benign 0.06
R8198:Semp2l2a UTSW 8 13,887,056 (GRCm39) missense probably benign 0.11
R8483:Semp2l2a UTSW 8 13,888,229 (GRCm39) start gained probably benign
R9090:Semp2l2a UTSW 8 13,886,697 (GRCm39) missense possibly damaging 0.53
R9271:Semp2l2a UTSW 8 13,886,697 (GRCm39) missense possibly damaging 0.53
X0020:Semp2l2a UTSW 8 13,886,847 (GRCm39) nonsense probably null
Posted On 2015-04-16