Incidental Mutation 'IGL01082:Sel1l'
ID52435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sel1l
Ensembl Gene ENSMUSG00000020964
Gene Namesel-1 suppressor of lin-12-like (C. elegans)
SynonymsSel1h
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01082
Quality Score
Status
Chromosome12
Chromosomal Location91806043-91849157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91811908 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 711 (V711A)
Ref Sequence ENSEMBL: ENSMUSP00000021347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021347] [ENSMUST00000167466] [ENSMUST00000178462]
Predicted Effect probably benign
Transcript: ENSMUST00000021347
AA Change: V711A

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: V711A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FN2 116 164 1.24e-24 SMART
SEL1 179 214 2.48e-1 SMART
SEL1 215 250 7.5e1 SMART
SEL1 251 286 1.86e-5 SMART
SEL1 287 322 1.16e-1 SMART
SEL1 369 405 7.93e-9 SMART
SEL1 406 442 8.05e-10 SMART
SEL1 443 478 2.48e-10 SMART
SEL1 479 514 1.91e-11 SMART
SEL1 515 550 9.04e-4 SMART
Pfam:Sel1 585 622 3.4e-1 PFAM
SEL1 623 658 4.42e-7 SMART
SEL1 660 695 2.28e-9 SMART
low complexity region 766 790 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166691
Predicted Effect probably benign
Transcript: ENSMUST00000167466
AA Change: V661A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: V661A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SEL1 129 164 2.48e-1 SMART
SEL1 165 200 7.5e1 SMART
SEL1 201 236 1.86e-5 SMART
SEL1 237 272 1.16e-1 SMART
SEL1 319 355 7.93e-9 SMART
SEL1 356 392 8.05e-10 SMART
SEL1 393 428 2.48e-10 SMART
SEL1 429 464 1.91e-11 SMART
SEL1 465 500 9.04e-4 SMART
Pfam:Sel1 534 572 1.5e-1 PFAM
SEL1 573 608 4.42e-7 SMART
SEL1 610 645 2.28e-9 SMART
low complexity region 716 740 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171465
Predicted Effect probably benign
Transcript: ENSMUST00000178462
AA Change: V661A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: V661A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SEL1 129 164 2.48e-1 SMART
SEL1 165 200 7.5e1 SMART
SEL1 201 236 1.86e-5 SMART
SEL1 237 272 1.16e-1 SMART
SEL1 319 355 7.93e-9 SMART
SEL1 356 392 8.05e-10 SMART
SEL1 393 428 2.48e-10 SMART
SEL1 429 464 1.91e-11 SMART
SEL1 465 500 9.04e-4 SMART
Pfam:Sel1 535 572 3.2e-1 PFAM
SEL1 573 608 4.42e-7 SMART
SEL1 610 645 2.28e-9 SMART
low complexity region 716 740 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethality with impaired exocrine and endocrine pancreatic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,114 S723F probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Ccdc116 A G 16: 17,141,992 S278P probably damaging Het
Cep152 A T 2: 125,569,545 probably benign Het
Cftr T C 6: 18,226,103 V350A probably damaging Het
Dsc2 A T 18: 20,043,792 N399K probably damaging Het
Eif3d T C 15: 77,959,743 T468A probably damaging Het
Fam110b C T 4: 5,799,461 A293V possibly damaging Het
Flrt1 T C 19: 7,095,974 T403A probably benign Het
Hist1h3e A G 13: 23,562,374 probably benign Het
Ift140 T A 17: 25,048,455 V609E possibly damaging Het
Klb G A 5: 65,375,940 V531I possibly damaging Het
Krt73 T C 15: 101,798,937 probably null Het
Mcm2 A G 6: 88,887,877 V539A probably benign Het
Myb A G 10: 21,152,944 V85A probably damaging Het
Ndufs1 T C 1: 63,164,817 E102G probably damaging Het
Nr5a2 C A 1: 136,845,468 A499S probably benign Het
Olfr1201 T C 2: 88,795,293 F304L probably benign Het
Olfr1256 A T 2: 89,844,063 probably benign Het
Olfr126 T A 17: 37,850,623 S10R probably benign Het
Opa1 A T 16: 29,618,115 probably benign Het
Pcnx G A 12: 81,990,598 E1877K possibly damaging Het
Slc22a16 A G 10: 40,573,864 T120A probably benign Het
Slc26a1 G T 5: 108,671,878 T485N possibly damaging Het
Sp100 T C 1: 85,670,020 V201A possibly damaging Het
Spz1 T G 13: 92,575,521 K149T probably damaging Het
Stxbp5l A G 16: 37,204,578 S553P possibly damaging Het
Szt2 A G 4: 118,397,624 S290P probably damaging Het
Tbc1d10c A G 19: 4,189,027 Y165H probably damaging Het
Tnxb C A 17: 34,714,610 Q2335K probably damaging Het
Trim33 T C 3: 103,326,859 I471T possibly damaging Het
Vsig10 A G 5: 117,334,905 I188V probably benign Het
Zfp109 A T 7: 24,234,359 L45Q probably damaging Het
Other mutations in Sel1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Sel1l APN 12 91814613 splice site probably benign
IGL01402:Sel1l APN 12 91841833 missense possibly damaging 0.55
IGL01610:Sel1l APN 12 91817290 missense probably damaging 1.00
IGL01690:Sel1l APN 12 91843259 missense probably benign
IGL01803:Sel1l APN 12 91830730 missense probably benign 0.37
IGL01939:Sel1l APN 12 91816247 missense probably damaging 1.00
IGL02275:Sel1l APN 12 91815015 missense probably damaging 1.00
IGL02279:Sel1l APN 12 91814997 missense probably damaging 1.00
IGL02407:Sel1l APN 12 91843268 splice site probably benign
IGL02934:Sel1l APN 12 91809936 nonsense probably null
R0533:Sel1l UTSW 12 91820094 missense probably damaging 1.00
R0565:Sel1l UTSW 12 91811889 missense probably benign 0.16
R0565:Sel1l UTSW 12 91813945 missense possibly damaging 0.95
R0973:Sel1l UTSW 12 91824860 missense probably damaging 1.00
R1378:Sel1l UTSW 12 91833097 splice site probably null
R1505:Sel1l UTSW 12 91813962 missense probably damaging 1.00
R1530:Sel1l UTSW 12 91826684 missense probably damaging 0.96
R2001:Sel1l UTSW 12 91826550 nonsense probably null
R3418:Sel1l UTSW 12 91810002 missense probably damaging 1.00
R3419:Sel1l UTSW 12 91810002 missense probably damaging 1.00
R4601:Sel1l UTSW 12 91833053 critical splice donor site probably null
R4776:Sel1l UTSW 12 91813893 missense probably damaging 1.00
R4839:Sel1l UTSW 12 91833158 missense probably benign 0.00
R4860:Sel1l UTSW 12 91831602 missense probably damaging 1.00
R4860:Sel1l UTSW 12 91831602 missense probably damaging 1.00
R4869:Sel1l UTSW 12 91814054 intron probably benign
R5261:Sel1l UTSW 12 91824884 missense possibly damaging 0.92
R5692:Sel1l UTSW 12 91811878 missense probably benign 0.02
R5744:Sel1l UTSW 12 91809980 missense possibly damaging 0.95
R5830:Sel1l UTSW 12 91833171 missense probably damaging 1.00
R6799:Sel1l UTSW 12 91814968 splice site probably null
R7291:Sel1l UTSW 12 91848965 missense probably benign
R8493:Sel1l UTSW 12 91813961 nonsense probably null
Z1176:Sel1l UTSW 12 91825297 missense probably null 1.00
Posted On2013-06-21