Incidental Mutation 'IGL02647:Semp2l2a'
ID 301974
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 non essential (E-score: 0.485) question?
Stock # IGL02647
Quality Score
Status
Chromosome 8
Chromosomal Location 13885233-13888389 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13886979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 371 (T371A)
Ref Sequence ENSEMBL: ENSMUSP00000096518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071308]
AlphaFold G3X9P9
Predicted Effect probably damaging
Transcript: ENSMUST00000071308
AA Change: T371A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: T371A

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,712,847 (GRCm39) R497W probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bmx T C X: 162,988,231 (GRCm39) E495G probably damaging Het
Cbx5 T C 15: 103,109,330 (GRCm39) probably null Het
Cenpj C T 14: 56,767,536 (GRCm39) V1203M probably damaging Het
Ces1b T C 8: 93,783,672 (GRCm39) H516R probably benign Het
D430041D05Rik T C 2: 104,078,611 (GRCm39) N1235S probably damaging Het
Depdc1a A T 3: 159,228,503 (GRCm39) K418N probably damaging Het
Dysf G A 6: 84,114,355 (GRCm39) V1215M probably damaging Het
Flacc1 T C 1: 58,709,613 (GRCm39) T181A probably benign Het
Foxf2 A T 13: 31,811,218 (GRCm39) N386Y probably damaging Het
Frem1 A T 4: 82,919,991 (GRCm39) V455E probably damaging Het
Fzd7 C A 1: 59,523,554 (GRCm39) P479Q probably damaging Het
Hnmt G A 2: 23,904,319 (GRCm39) S114F possibly damaging Het
Irf3 A G 7: 44,649,800 (GRCm39) N6S probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrba A G 3: 86,267,038 (GRCm39) D1576G probably benign Het
Lsg1 A T 16: 30,404,370 (GRCm39) probably null Het
Mal2 T C 15: 54,451,833 (GRCm39) F85L probably damaging Het
Me2 A C 18: 73,930,974 (GRCm39) S106R probably benign Het
Med21 T C 6: 146,550,731 (GRCm39) S81P probably benign Het
Mos T C 4: 3,870,961 (GRCm39) Y285C probably damaging Het
Mtmr1 A G X: 70,436,939 (GRCm39) N256S probably damaging Het
Or7e174 T A 9: 20,012,505 (GRCm39) M150K probably benign Het
Prl3d2 A C 13: 27,309,999 (GRCm39) T155P probably benign Het
R3hdm2 C T 10: 127,295,353 (GRCm39) S240L probably damaging Het
Skint6 A T 4: 112,985,088 (GRCm39) probably benign Het
Ubr5 A G 15: 37,992,326 (GRCm39) S1933P probably damaging Het
Veph1 A T 3: 66,066,869 (GRCm39) probably benign Het
Xpo7 A G 14: 70,922,905 (GRCm39) F557S probably damaging Het
Zfp647 T C 15: 76,801,915 (GRCm39) E30G probably damaging Het
Zfp655 A T 5: 145,179,816 (GRCm39) I75L probably benign Het
Zfp981 C A 4: 146,621,709 (GRCm39) Y211* probably null Het
Other mutations in Semp2l2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02291:Semp2l2a APN 8 13,887,704 (GRCm39) missense probably benign 0.03
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