Incidental Mutation 'R6475:Erlec1'
ID 517394
Institutional Source Beutler Lab
Gene Symbol Erlec1
Ensembl Gene ENSMUSG00000020311
Gene Name endoplasmic reticulum lectin 1
Synonyms 4933407N01Rik
MMRRC Submission 044608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6475 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 30880774-30904335 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 30898442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 10 (Q10*)
Ref Sequence ENSEMBL: ENSMUSP00000129078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073192] [ENSMUST00000129593] [ENSMUST00000203878]
AlphaFold Q8VEH8
Predicted Effect probably null
Transcript: ENSMUST00000073192
AA Change: Q203*
SMART Domains Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
AA Change: Q203*

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:PRKCSH 111 199 6.6e-21 PFAM
Pfam:PRKCSH 342 421 2e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129593
AA Change: Q10*
SMART Domains Protein: ENSMUSP00000129078
Gene: ENSMUSG00000020311
AA Change: Q10*

DomainStartEndE-ValueType
SCOP:d1c39a_ 2 52 1e-3 SMART
Pfam:PRKCSH 149 225 1.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143126
SMART Domains Protein: ENSMUSP00000126490
Gene: ENSMUSG00000020311

DomainStartEndE-ValueType
Pfam:PRKCSH 52 80 2.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155304
Predicted Effect probably benign
Transcript: ENSMUST00000203878
SMART Domains Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
ANK 48 77 3.5e-2 SMART
ANK 81 110 8e-3 SMART
ANK 117 146 4.8e-5 SMART
ANK 150 179 1.7e-7 SMART
ANK 184 213 1.8e-4 SMART
ANK 217 246 1.8e-6 SMART
ANK 250 279 1.2e-7 SMART
ANK 285 315 1.1e0 SMART
ANK 318 347 1.2e-3 SMART
ANK 354 385 7.7e-1 SMART
SOCS 493 542 2.8e-4 SMART
SOCS_box 499 541 1.6e-17 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb5 T A 8: 55,003,610 (GRCm39) V44E probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Ccr4 A G 9: 114,322,047 (GRCm39) V6A probably benign Het
Cd209a A T 8: 3,797,031 (GRCm39) D102E probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Cog4 T A 8: 111,607,526 (GRCm39) I671N possibly damaging Het
Col14a1 T G 15: 55,309,218 (GRCm39) probably benign Het
Cpne6 A G 14: 55,751,110 (GRCm39) D173G probably damaging Het
Daglb G T 5: 143,467,406 (GRCm39) V275L probably benign Het
Defb43 G T 14: 63,249,321 (GRCm39) probably null Het
Dhx30 A G 9: 109,914,120 (GRCm39) V1022A possibly damaging Het
Egfem1 A T 3: 29,711,312 (GRCm39) K297M probably damaging Het
Egfr A G 11: 16,841,259 (GRCm39) I717V probably benign Het
Eif2ak1 T G 5: 143,803,765 (GRCm39) probably null Het
Epb42 T C 2: 120,857,614 (GRCm39) Y307C possibly damaging Het
Fam185a A G 5: 21,630,281 (GRCm39) D39G probably benign Het
Fbxl4 T A 4: 22,433,661 (GRCm39) D599E probably damaging Het
Fgfr2 T A 7: 129,802,850 (GRCm39) T268S probably benign Het
Gabra1 A T 11: 42,053,382 (GRCm39) M84K probably benign Het
Gba1 A G 3: 89,113,235 (GRCm39) D222G probably benign Het
Gm3409 T A 5: 146,474,596 (GRCm39) H37Q possibly damaging Het
Gm4559 A G 7: 141,827,887 (GRCm39) C72R unknown Het
Grik4 T C 9: 42,540,304 (GRCm39) N292S probably benign Het
Haao A G 17: 84,139,113 (GRCm39) S274P possibly damaging Het
Hsd17b4 T A 18: 50,305,329 (GRCm39) probably null Het
Igdcc4 A T 9: 65,027,603 (GRCm39) S222C probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Itgb7 T A 15: 102,124,701 (GRCm39) D772V probably benign Het
Kif14 T C 1: 136,455,149 (GRCm39) L1607P probably damaging Het
Klf5 A G 14: 99,538,817 (GRCm39) T77A probably benign Het
Klhl29 C T 12: 5,141,030 (GRCm39) V605I probably damaging Het
Map4k1 T C 7: 28,686,447 (GRCm39) V105A probably damaging Het
Mctp2 A T 7: 71,850,092 (GRCm39) probably null Het
Med12l A G 3: 59,164,500 (GRCm39) E1364G probably damaging Het
Mup9 A T 4: 60,375,805 (GRCm39) D30E possibly damaging Het
Naip1 T C 13: 100,545,596 (GRCm39) R1311G probably damaging Het
Or2ag2 A G 7: 106,485,604 (GRCm39) V140A probably benign Het
Or2v1 C T 11: 49,025,760 (GRCm39) T247I probably benign Het
Or4f14 G A 2: 111,743,204 (GRCm39) Q24* probably null Het
Or8g28 T A 9: 39,169,378 (GRCm39) M197L probably benign Het
Pkd1l3 A C 8: 110,349,844 (GRCm39) T230P unknown Het
Pthlh G T 6: 147,158,688 (GRCm39) H91N probably damaging Het
Rapgef5 T A 12: 117,681,942 (GRCm39) V239D probably damaging Het
Rita1 G A 5: 120,749,635 (GRCm39) T26I probably damaging Het
Robo3 T C 9: 37,334,586 (GRCm39) T615A probably damaging Het
Rpp38 T C 2: 3,330,644 (GRCm39) D86G probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Senp2 G T 16: 21,842,550 (GRCm39) V205L probably damaging Het
Septin10 T C 10: 59,028,133 (GRCm39) N63D possibly damaging Het
Sez6 A G 11: 77,864,670 (GRCm39) Het
Spesp1 C T 9: 62,179,715 (GRCm39) V398I probably benign Het
Tmbim7 G A 5: 3,714,319 (GRCm39) G19S probably benign Het
Tnni3k A T 3: 154,646,695 (GRCm39) L431* probably null Het
Trdn T A 10: 33,340,551 (GRCm39) probably null Het
Tubb2a A G 13: 34,259,442 (GRCm39) V116A possibly damaging Het
Ush1c T C 7: 45,878,643 (GRCm39) D124G probably damaging Het
Zfp768 A T 7: 126,943,827 (GRCm39) F103L probably damaging Het
Zfp799 A G 17: 33,039,820 (GRCm39) S149P probably damaging Het
Other mutations in Erlec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Erlec1 APN 11 30,898,510 (GRCm39) missense possibly damaging 0.84
IGL00537:Erlec1 APN 11 30,889,591 (GRCm39) missense probably benign 0.04
IGL00766:Erlec1 APN 11 30,900,623 (GRCm39) nonsense probably null
IGL01760:Erlec1 APN 11 30,884,731 (GRCm39) missense probably benign 0.34
IGL02505:Erlec1 APN 11 30,900,767 (GRCm39) missense probably damaging 1.00
IGL02633:Erlec1 APN 11 30,898,430 (GRCm39) nonsense probably null
R0674:Erlec1 UTSW 11 30,885,073 (GRCm39) intron probably benign
R1211:Erlec1 UTSW 11 30,898,298 (GRCm39) critical splice donor site probably null
R1974:Erlec1 UTSW 11 30,889,604 (GRCm39) missense possibly damaging 0.83
R4326:Erlec1 UTSW 11 30,899,972 (GRCm39) missense probably benign
R4328:Erlec1 UTSW 11 30,899,972 (GRCm39) missense probably benign
R4392:Erlec1 UTSW 11 30,893,697 (GRCm39) critical splice donor site probably null
R4641:Erlec1 UTSW 11 30,898,442 (GRCm39) nonsense probably null
R4697:Erlec1 UTSW 11 30,902,640 (GRCm39) missense probably benign 0.27
R4917:Erlec1 UTSW 11 30,884,710 (GRCm39) missense possibly damaging 0.56
R5486:Erlec1 UTSW 11 30,885,047 (GRCm39) missense probably damaging 0.98
R5735:Erlec1 UTSW 11 30,900,591 (GRCm39) missense probably benign 0.00
R5775:Erlec1 UTSW 11 30,893,848 (GRCm39) missense probably benign 0.11
R7027:Erlec1 UTSW 11 30,900,790 (GRCm39) missense probably damaging 1.00
R7235:Erlec1 UTSW 11 30,900,751 (GRCm39) missense possibly damaging 0.91
R7440:Erlec1 UTSW 11 30,900,818 (GRCm39) missense possibly damaging 0.66
R8551:Erlec1 UTSW 11 30,881,829 (GRCm39) missense probably damaging 1.00
R8848:Erlec1 UTSW 11 30,898,411 (GRCm39) missense probably damaging 1.00
R9420:Erlec1 UTSW 11 30,885,054 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCACAGGAGAGGCTCTGAAC -3'
(R):5'- AGCAGCCCAGTATAGTACATTTTCTC -3'

Sequencing Primer
(F):5'- CAGGAGAGGCTCTGAACCTATTC -3'
(R):5'- AGCTTAGTTTGTGTCTTCAGAAC -3'
Posted On 2018-05-21