Incidental Mutation 'IGL01690:Sel1l'
ID104075
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 #IGL01690
Quality Score
Status
Chromosome12
Chromosomal Location91806043-91849157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 91843259 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 26 (D26E)
Ref Sequence ENSEMBL: ENSMUSP00000136087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021347] [ENSMUST00000167466] [ENSMUST00000178462]
Predicted Effect probably benign
Transcript: ENSMUST00000021347
AA Change: D26E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: D26E

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: ENSMUST00000166691
Predicted Effect probably benign
Transcript: ENSMUST00000167466
AA Change: D26E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: D26E

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: ENSMUST00000167594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172246
Predicted Effect probably benign
Transcript: ENSMUST00000178462
AA Change: D26E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: D26E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik G A 4: 144,438,528 T26M probably damaging Het
4931429P17Rik A G 13: 47,960,970 noncoding transcript Het
Agap2 T C 10: 127,082,958 probably benign Het
Bicra G A 7: 15,987,753 T613I probably benign Het
Cd163 T C 6: 124,307,318 S150P possibly damaging Het
F830045P16Rik T G 2: 129,472,694 Q221P probably damaging Het
Fam129a C A 1: 151,703,804 R425S probably damaging Het
Fam135b T A 15: 71,456,935 M1172L probably benign Het
Fbxo2 G T 4: 148,165,124 probably null Het
Frem1 C T 4: 82,959,296 probably benign Het
Galnt17 C T 5: 131,085,896 probably null Het
Gipc2 A G 3: 152,128,134 I170T probably damaging Het
Gm2399 C T 13: 12,702,528 noncoding transcript Het
Hdac10 T A 15: 89,125,991 M283L probably benign Het
Icam5 A G 9: 21,034,799 E309G possibly damaging Het
Igkv3-5 T A 6: 70,663,881 S115R probably benign Het
Impg2 A G 16: 56,205,205 R67G probably damaging Het
Kansl1l T C 1: 66,801,073 Y356C probably damaging Het
Ly75 T C 2: 60,338,311 D751G probably damaging Het
Lyst A G 13: 13,743,246 D3297G probably damaging Het
Mall A G 2: 127,729,779 F30L probably benign Het
Map1b C T 13: 99,435,004 G403D probably damaging Het
Mmp11 T C 10: 75,926,896 Y241C probably damaging Het
Olfr1245 A G 2: 89,575,213 V171A probably benign Het
Pcnt C T 10: 76,392,775 A1519T probably damaging Het
Pcsk2 A G 2: 143,687,570 M96V probably benign Het
Piwil4 T C 9: 14,703,095 D124G probably damaging Het
Plb1 A T 5: 32,313,697 I538F probably damaging Het
Polq A G 16: 37,062,838 D1788G probably damaging Het
Pus7 A G 5: 23,775,964 S134P probably damaging Het
Sec61a2 G A 2: 5,886,552 S56L possibly damaging Het
Slc25a48 G A 13: 56,464,945 probably benign Het
Tas2r126 T C 6: 42,435,307 F258S probably benign Het
Tnfrsf13b G A 11: 61,141,320 V59I possibly damaging Het
Ttc30a1 A G 2: 75,979,933 V602A probably benign Het
Usp6nl G A 2: 6,441,068 V619M probably benign Het
Vmn1r67 A G 7: 10,446,840 I10M possibly damaging Het
Vmn2r71 A G 7: 85,615,574 D38G probably damaging Het
Other mutations in Sel1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Sel1l APN 12 91814613 splice site probably benign
IGL01082:Sel1l APN 12 91811908 missense probably benign 0.41
IGL01402:Sel1l APN 12 91841833 missense possibly damaging 0.55
IGL01610:Sel1l APN 12 91817290 missense probably damaging 1.00
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 intron 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
Posted On2014-01-21