Incidental Mutation 'IGL03288:Semp2l1'
ID 415777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Semp2l1
Ensembl Gene ENSMUSG00000091318
Gene Name SUMO/sentrin specific peptidase 2-like 1
Synonyms Gm5415
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # IGL03288
Quality Score
Status
Chromosome 1
Chromosomal Location 32582767-32586375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32584841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 356 (E356D)
Ref Sequence ENSEMBL: ENSMUSP00000132789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226] [ENSMUST00000171322]
AlphaFold E9PXF3
Predicted Effect probably benign
Transcript: ENSMUST00000027226
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
KH 58 156 4.93e-7 SMART
low complexity region 185 197 N/A INTRINSIC
low complexity region 204 231 N/A INTRINSIC
Pfam:Sam68-YY 267 321 1.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171322
AA Change: E356D

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: E356D

DomainStartEndE-ValueType
low complexity region 137 150 N/A INTRINSIC
Pfam:Peptidase_C48 298 477 7.4e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195761
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,761,959 (GRCm39) K1589R probably benign Het
Armc3 T C 2: 19,240,293 (GRCm39) F17L probably damaging Het
Ccdc17 T A 4: 116,456,626 (GRCm39) L465H probably damaging Het
Cdh9 A T 15: 16,856,135 (GRCm39) D725V probably damaging Het
Cert1 T A 13: 96,770,700 (GRCm39) D536E probably benign Het
Chl1 C T 6: 103,652,058 (GRCm39) R309C probably damaging Het
Dbt T A 3: 116,341,847 (GRCm39) *483K probably null Het
Ddx46 A G 13: 55,785,907 (GRCm39) D29G unknown Het
Des T C 1: 75,338,985 (GRCm39) I222T possibly damaging Het
Dnah8 A G 17: 30,891,323 (GRCm39) N776S probably benign Het
Fbn1 A T 2: 125,145,103 (GRCm39) L2712Q probably benign Het
Glb1l3 A C 9: 26,729,601 (GRCm39) V622G probably damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Itgb3 T C 11: 104,524,293 (GRCm39) M143T probably damaging Het
Lama2 G A 10: 27,245,047 (GRCm39) R245C probably damaging Het
Lgals9 G A 11: 78,875,626 (GRCm39) A6V probably benign Het
Lman2l A T 1: 36,482,628 (GRCm39) Y83N probably damaging Het
Lrp2 T A 2: 69,256,383 (GRCm39) T4586S probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Myo18b A C 5: 112,937,863 (GRCm39) L1754R probably damaging Het
Myom2 T C 8: 15,172,679 (GRCm39) L1202S probably damaging Het
Nav3 T C 10: 109,594,878 (GRCm39) E1441G probably damaging Het
Nme8 T C 13: 19,880,776 (GRCm39) E60G possibly damaging Het
Npffr2 G T 5: 89,731,020 (GRCm39) A317S probably damaging Het
Nrxn2 A G 19: 6,540,726 (GRCm39) D893G probably damaging Het
Nup153 T C 13: 46,858,681 (GRCm39) E410G possibly damaging Het
Or11h7 T C 14: 50,890,832 (GRCm39) I46T possibly damaging Het
Or7e178 A G 9: 20,247,207 (GRCm39) probably null Het
Pcdhb10 A G 18: 37,546,358 (GRCm39) D478G probably damaging Het
Phf13 T C 4: 152,076,826 (GRCm39) D122G possibly damaging Het
Pkhd1 A T 1: 20,271,243 (GRCm39) H3103Q probably benign Het
Prr11 A C 11: 86,987,787 (GRCm39) probably null Het
Rac3 C T 11: 120,614,092 (GRCm39) T118M possibly damaging Het
Rad54b T C 4: 11,569,833 (GRCm39) S50P possibly damaging Het
Rp1 T C 1: 4,419,747 (GRCm39) Q455R possibly damaging Het
Sorl1 T C 9: 41,944,858 (GRCm39) probably benign Het
Spink5 A T 18: 44,147,827 (GRCm39) I858F possibly damaging Het
Stxbp5 A T 10: 9,742,447 (GRCm39) probably null Het
Svep1 A C 4: 58,116,532 (GRCm39) V906G probably benign Het
Tlr4 A G 4: 66,757,990 (GRCm39) E261G probably damaging Het
Zfp704 C T 3: 9,504,951 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,580,996 (GRCm39) probably benign Het
Other mutations in Semp2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Semp2l1 APN 1 32,585,748 (GRCm39) missense probably benign
IGL01148:Semp2l1 APN 1 32,584,735 (GRCm39) missense possibly damaging 0.88
IGL02323:Semp2l1 APN 1 32,584,785 (GRCm39) nonsense probably null
IGL03076:Semp2l1 APN 1 32,584,626 (GRCm39) missense probably damaging 1.00
PIT4576001:Semp2l1 UTSW 1 32,585,553 (GRCm39) missense probably damaging 1.00
R0110:Semp2l1 UTSW 1 32,584,956 (GRCm39) missense possibly damaging 0.87
R0510:Semp2l1 UTSW 1 32,584,956 (GRCm39) missense possibly damaging 0.87
R0891:Semp2l1 UTSW 1 32,585,442 (GRCm39) missense possibly damaging 0.54
R1836:Semp2l1 UTSW 1 32,584,758 (GRCm39) missense probably damaging 1.00
R1939:Semp2l1 UTSW 1 32,584,627 (GRCm39) missense probably damaging 0.99
R2156:Semp2l1 UTSW 1 32,585,128 (GRCm39) missense probably benign 0.08
R2226:Semp2l1 UTSW 1 32,584,934 (GRCm39) missense probably damaging 1.00
R2422:Semp2l1 UTSW 1 32,584,942 (GRCm39) missense possibly damaging 0.73
R4761:Semp2l1 UTSW 1 32,585,588 (GRCm39) missense possibly damaging 0.51
R4901:Semp2l1 UTSW 1 32,585,701 (GRCm39) missense probably benign 0.00
R5129:Semp2l1 UTSW 1 32,584,561 (GRCm39) missense probably damaging 1.00
R5129:Semp2l1 UTSW 1 32,584,560 (GRCm39) missense probably damaging 1.00
R5184:Semp2l1 UTSW 1 32,584,729 (GRCm39) missense probably damaging 0.99
R5259:Semp2l1 UTSW 1 32,584,598 (GRCm39) nonsense probably null
R6271:Semp2l1 UTSW 1 32,584,572 (GRCm39) missense probably damaging 1.00
R6589:Semp2l1 UTSW 1 32,585,792 (GRCm39) missense probably benign 0.44
R6746:Semp2l1 UTSW 1 32,585,844 (GRCm39) missense probably benign
R7720:Semp2l1 UTSW 1 32,585,178 (GRCm39) missense probably benign 0.00
R7855:Semp2l1 UTSW 1 32,585,114 (GRCm39) missense probably damaging 0.96
R8006:Semp2l1 UTSW 1 32,586,005 (GRCm39) start gained probably benign
R8177:Semp2l1 UTSW 1 32,585,457 (GRCm39) missense probably benign
R8946:Semp2l1 UTSW 1 32,585,685 (GRCm39) missense probably benign 0.02
R9172:Semp2l1 UTSW 1 32,585,165 (GRCm39) missense probably benign
R9455:Semp2l1 UTSW 1 32,585,907 (GRCm39) start codon destroyed probably null
X0024:Semp2l1 UTSW 1 32,584,792 (GRCm39) missense possibly damaging 0.54
Posted On 2016-08-02