Incidental Mutation 'IGL00493:Sel1l'
ID 4382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sel1l
Ensembl Gene ENSMUSG00000020964
Gene Name sel-1 suppressor of lin-12-like (C. elegans)
Synonyms Sel1h
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00493
Quality Score
Status
Chromosome 12
Chromosomal Location 91772817-91815931 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 91781387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021347] [ENSMUST00000167466] [ENSMUST00000178462]
AlphaFold Q9Z2G6
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
Adarb2 A G 13: 8,751,761 (GRCm39) T509A probably benign Het
Arhgap23 T C 11: 97,337,379 (GRCm39) probably null Het
Astn1 A T 1: 158,427,889 (GRCm39) I687F possibly damaging Het
Atg4d T C 9: 21,178,217 (GRCm39) F112L probably damaging Het
Bltp3b A C 10: 89,615,846 (GRCm39) D163A probably damaging Het
Cd200 T A 16: 45,217,409 (GRCm39) D94V probably damaging Het
Cfap46 T C 7: 139,194,359 (GRCm39) K2285R probably benign Het
Clhc1 T A 11: 29,521,745 (GRCm39) I426N probably damaging Het
Cnnm2 T A 19: 46,751,659 (GRCm39) V483E probably damaging Het
Dennd2b G A 7: 109,126,915 (GRCm39) A932V possibly damaging Het
Dlc1 A T 8: 37,037,436 (GRCm39) probably benign Het
Fpgs T C 2: 32,578,009 (GRCm39) I138V possibly damaging Het
Gpr152 T C 19: 4,193,506 (GRCm39) V349A probably benign Het
Hk1 C A 10: 62,122,127 (GRCm39) E523* probably null Het
Ift70a1 C A 2: 75,812,085 (GRCm39) probably benign Het
Krt6a T G 15: 101,601,229 (GRCm39) K241N probably damaging Het
Mcm3ap A G 10: 76,307,011 (GRCm39) S375G probably benign Het
Meikin C T 11: 54,289,320 (GRCm39) P231L probably damaging Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Mvk G A 5: 114,583,502 (GRCm39) V14I probably benign Het
Myo6 C T 9: 80,199,754 (GRCm39) S1021L probably damaging Het
N4bp2l2 G A 5: 150,585,401 (GRCm39) T193M probably benign Het
Naip5 G T 13: 100,367,279 (GRCm39) D272E probably damaging Het
Nptn T A 9: 58,550,922 (GRCm39) N316K probably damaging Het
Pde6c T C 19: 38,151,324 (GRCm39) probably benign Het
Prg4 T A 1: 150,327,671 (GRCm39) I850L probably damaging Het
Rdm1 T G 11: 101,526,580 (GRCm39) C251G possibly damaging Het
Relch A G 1: 105,624,324 (GRCm39) probably benign Het
Rps6kl1 G A 12: 85,186,157 (GRCm39) P291L probably benign Het
Serpinb1b T C 13: 33,277,850 (GRCm39) F361S probably damaging Het
Sirpb1a G A 3: 15,475,788 (GRCm39) probably benign Het
Smpd1 T G 7: 105,205,848 (GRCm39) V405G probably damaging Het
Spmip11 T C 15: 98,486,425 (GRCm39) probably benign Het
Tead3 T C 17: 28,551,780 (GRCm39) T438A possibly damaging Het
Treh A T 9: 44,595,197 (GRCm39) D89V probably damaging Het
Trim10 A T 17: 37,188,140 (GRCm39) H452L probably benign Het
Ugt2b1 A G 5: 87,073,817 (GRCm39) C181R probably benign Het
Xdh A T 17: 74,230,101 (GRCm39) F277I possibly damaging Het
Zswim4 T G 8: 84,938,769 (GRCm39) T1038P probably damaging Het
Other mutations in Sel1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Sel1l APN 12 91,778,682 (GRCm39) missense probably benign 0.41
IGL01402:Sel1l APN 12 91,808,607 (GRCm39) missense possibly damaging 0.55
IGL01610:Sel1l APN 12 91,784,064 (GRCm39) missense probably damaging 1.00
IGL01690:Sel1l APN 12 91,810,033 (GRCm39) missense probably benign
IGL01803:Sel1l APN 12 91,797,504 (GRCm39) missense probably benign 0.37
IGL01939:Sel1l APN 12 91,783,021 (GRCm39) missense probably damaging 1.00
IGL02275:Sel1l APN 12 91,781,789 (GRCm39) missense probably damaging 1.00
IGL02279:Sel1l APN 12 91,781,771 (GRCm39) missense probably damaging 1.00
IGL02407:Sel1l APN 12 91,810,042 (GRCm39) splice site probably benign
IGL02934:Sel1l APN 12 91,776,710 (GRCm39) nonsense probably null
R0533:Sel1l UTSW 12 91,786,868 (GRCm39) missense probably damaging 1.00
R0565:Sel1l UTSW 12 91,780,719 (GRCm39) missense possibly damaging 0.95
R0565:Sel1l UTSW 12 91,778,663 (GRCm39) missense probably benign 0.16
R0973:Sel1l UTSW 12 91,791,634 (GRCm39) missense probably damaging 1.00
R1378:Sel1l UTSW 12 91,799,871 (GRCm39) splice site probably null
R1505:Sel1l UTSW 12 91,780,736 (GRCm39) missense probably damaging 1.00
R1530:Sel1l UTSW 12 91,793,458 (GRCm39) missense probably damaging 0.96
R2001:Sel1l UTSW 12 91,793,324 (GRCm39) nonsense probably null
R3418:Sel1l UTSW 12 91,776,776 (GRCm39) missense probably damaging 1.00
R3419:Sel1l UTSW 12 91,776,776 (GRCm39) missense probably damaging 1.00
R4601:Sel1l UTSW 12 91,799,827 (GRCm39) critical splice donor site probably null
R4776:Sel1l UTSW 12 91,780,667 (GRCm39) missense probably damaging 1.00
R4839:Sel1l UTSW 12 91,799,932 (GRCm39) missense probably benign 0.00
R4860:Sel1l UTSW 12 91,798,376 (GRCm39) missense probably damaging 1.00
R4860:Sel1l UTSW 12 91,798,376 (GRCm39) missense probably damaging 1.00
R4869:Sel1l UTSW 12 91,780,828 (GRCm39) intron probably benign
R5261:Sel1l UTSW 12 91,791,658 (GRCm39) missense possibly damaging 0.92
R5692:Sel1l UTSW 12 91,778,652 (GRCm39) missense probably benign 0.02
R5744:Sel1l UTSW 12 91,776,754 (GRCm39) missense possibly damaging 0.95
R5830:Sel1l UTSW 12 91,799,945 (GRCm39) missense probably damaging 1.00
R6799:Sel1l UTSW 12 91,781,742 (GRCm39) splice site probably null
R7291:Sel1l UTSW 12 91,815,739 (GRCm39) missense probably benign
R8493:Sel1l UTSW 12 91,780,735 (GRCm39) nonsense probably null
R9178:Sel1l UTSW 12 91,797,526 (GRCm39) missense probably benign 0.05
R9179:Sel1l UTSW 12 91,778,726 (GRCm39) missense probably benign 0.42
Z1176:Sel1l UTSW 12 91,792,071 (GRCm39) missense probably null 1.00
Posted On 2012-04-20