Incidental Mutation 'IGL02323:Semp2l1'
ID 288313
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 # IGL02323
Quality Score
Status
Chromosome 1
Chromosomal Location 32582767-32586375 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 32584785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 375 (L375*)
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 null
Transcript: ENSMUST00000171322
AA Change: L375*
SMART Domains Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: L375*

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,326 (GRCm39) E344G probably damaging Het
Actrt2 T C 4: 154,751,255 (GRCm39) T294A probably benign Het
Afg1l C A 10: 42,330,506 (GRCm39) E54* probably null Het
Ahi1 T C 10: 20,847,933 (GRCm39) I447T probably damaging Het
Akap6 T C 12: 53,187,212 (GRCm39) I1542T probably benign Het
Ankrd34c A C 9: 89,612,033 (GRCm39) S103A possibly damaging Het
Apc C T 18: 34,448,863 (GRCm39) Q1886* probably null Het
Bcas3 A G 11: 85,386,671 (GRCm39) T148A probably damaging Het
Bud13 A G 9: 46,194,350 (GRCm39) T8A probably benign Het
Casr A T 16: 36,330,072 (GRCm39) Y421N probably damaging Het
Ccdc121rt2 A G 5: 112,597,600 (GRCm39) Y49C probably benign Het
Clasp2 T C 9: 113,697,794 (GRCm39) probably benign Het
Clca4b T C 3: 144,619,082 (GRCm39) T686A probably benign Het
Cntln T A 4: 84,968,026 (GRCm39) H748Q probably benign Het
Dmtf1 A T 5: 9,170,056 (GRCm39) D683E possibly damaging Het
Dnmt3l A G 10: 77,899,152 (GRCm39) K117R probably damaging Het
Eif2a T C 3: 58,456,024 (GRCm39) M341T possibly damaging Het
Epg5 T A 18: 78,056,047 (GRCm39) Y1740* probably null Het
Fam149b C T 14: 20,413,369 (GRCm39) T157I possibly damaging Het
Fam89b A G 19: 5,778,899 (GRCm39) probably null Het
Fbxo3 T A 2: 103,878,296 (GRCm39) N232K probably benign Het
Gnl3 A C 14: 30,739,359 (GRCm39) H16Q probably damaging Het
Gpld1 T G 13: 25,166,757 (GRCm39) V669G probably damaging Het
Grik3 A G 4: 125,579,783 (GRCm39) probably benign Het
Gzmg A C 14: 56,394,729 (GRCm39) Y180D probably benign Het
H2-M9 A T 17: 36,951,633 (GRCm39) Y281N probably damaging Het
Katnip T A 7: 125,442,001 (GRCm39) S637T probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mrs2 T A 13: 25,188,940 (GRCm39) I125F probably damaging Het
Nfam1 T A 15: 82,907,152 (GRCm39) N15I probably benign Het
Nol8 T A 13: 49,808,721 (GRCm39) probably benign Het
Obscn A G 11: 58,899,348 (GRCm39) V6483A possibly damaging Het
Or2a56 A T 6: 42,932,917 (GRCm39) I162F probably benign Het
Osbpl3 A G 6: 50,323,306 (GRCm39) probably null Het
Plaat3 G A 19: 7,552,357 (GRCm39) W24* probably null Het
Ppfibp2 A T 7: 107,337,836 (GRCm39) Q652H probably damaging Het
Rbm47 A G 5: 66,183,772 (GRCm39) V277A probably damaging Het
Robo3 G A 9: 37,333,497 (GRCm39) A716V probably benign Het
Scart1 G T 7: 139,808,572 (GRCm39) A828S probably benign Het
Slc29a4 A G 5: 142,703,407 (GRCm39) E227G probably damaging Het
Slf1 T C 13: 77,199,413 (GRCm39) D656G possibly damaging Het
Sox1 A G 8: 12,446,692 (GRCm39) H111R possibly damaging Het
Spmip9 A G 6: 70,890,679 (GRCm39) probably benign Het
Svep1 G A 4: 58,070,236 (GRCm39) Q2517* probably null Het
Syndig1 G T 2: 149,741,707 (GRCm39) V98L probably benign Het
Synpo2 T C 3: 122,911,183 (GRCm39) E154G probably benign Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tmem200a T C 10: 25,869,328 (GRCm39) N314D probably benign Het
Tnfaip8l1 A T 17: 56,479,009 (GRCm39) T100S probably damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trim12c C T 7: 103,997,473 (GRCm39) A28T probably benign Het
Trpc7 C A 13: 56,931,564 (GRCm39) V595L possibly damaging Het
Ttc39c A G 18: 12,869,800 (GRCm39) R575G probably null Het
Ttn T G 2: 76,681,919 (GRCm39) probably benign Het
Ttn C T 2: 76,553,609 (GRCm39) V31003M probably damaging Het
Ugt2b37 A T 5: 87,398,423 (GRCm39) probably benign Het
Uqcrb A T 13: 67,050,874 (GRCm39) probably benign Het
Usp33 T A 3: 152,076,024 (GRCm39) W415R probably benign Het
Vmn2r110 A T 17: 20,816,399 (GRCm39) D41E probably damaging Het
Vmn2r98 A T 17: 19,286,113 (GRCm39) I204F probably damaging 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
IGL03076:Semp2l1 APN 1 32,584,626 (GRCm39) missense probably damaging 1.00
IGL03288:Semp2l1 APN 1 32,584,841 (GRCm39) missense probably benign 0.09
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 2015-04-16