Incidental Mutation 'IGL00493:Sel1l'
ID4382
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 #IGL00493
Quality Score
Status
Chromosome12
Chromosomal Location91806043-91849157 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 91814613 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021347] [ENSMUST00000167466] [ENSMUST00000178462]
Predicted Effect probably benign
Transcript: ENSMUST00000021347
SMART Domains Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964

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
SMART Domains Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964

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
SMART Domains Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,696,599 probably benign Het
4930415O20Rik T C 15: 98,588,544 probably benign Het
Adarb2 A G 13: 8,701,725 T509A probably benign Het
Arhgap23 T C 11: 97,446,553 probably null Het
Astn1 A T 1: 158,600,319 I687F possibly damaging Het
Atg4d T C 9: 21,266,921 F112L probably damaging Het
Cd200 T A 16: 45,397,046 D94V probably damaging Het
Cfap46 T C 7: 139,614,443 K2285R probably benign Het
Clhc1 T A 11: 29,571,745 I426N probably damaging Het
Cnnm2 T A 19: 46,763,220 V483E probably damaging Het
Dlc1 A T 8: 36,570,282 probably benign Het
Fpgs T C 2: 32,687,997 I138V possibly damaging Het
Gpr152 T C 19: 4,143,507 V349A probably benign Het
Hk1 C A 10: 62,286,348 E523* probably null Het
Krt6a T G 15: 101,692,794 K241N probably damaging Het
Mcm3ap A G 10: 76,471,177 S375G probably benign Het
Meikin C T 11: 54,398,494 P231L probably damaging Het
Micall1 G A 15: 79,115,021 probably benign Het
Mvk G A 5: 114,445,441 V14I probably benign Het
Myo6 C T 9: 80,292,472 S1021L probably damaging Het
N4bp2l2 G A 5: 150,661,936 T193M probably benign Het
Naip5 G T 13: 100,230,771 D272E probably damaging Het
Nptn T A 9: 58,643,639 N316K probably damaging Het
Pde6c T C 19: 38,162,876 probably benign Het
Prg4 T A 1: 150,451,920 I850L probably damaging Het
Rdm1 T G 11: 101,635,754 C251G possibly damaging Het
Rps6kl1 G A 12: 85,139,383 P291L probably benign Het
Serpinb1b T C 13: 33,093,867 F361S probably damaging Het
Sirpb1a G A 3: 15,410,728 probably benign Het
Smpd1 T G 7: 105,556,641 V405G probably damaging Het
St5 G A 7: 109,527,708 A932V possibly damaging Het
Tead3 T C 17: 28,332,806 T438A possibly damaging Het
Treh A T 9: 44,683,900 D89V probably damaging Het
Trim10 A T 17: 36,877,248 H452L probably benign Het
Ttc30a1 C A 2: 75,981,741 probably benign Het
Ugt2b1 A G 5: 86,925,958 C181R probably benign Het
Uhrf1bp1l A C 10: 89,779,984 D163A probably damaging Het
Xdh A T 17: 73,923,106 F277I possibly damaging Het
Zswim4 T G 8: 84,212,140 T1038P probably damaging Het
Other mutations in Sel1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-04-20