Incidental Mutation 'IGL00326:Erlec1'
ID6069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erlec1
Ensembl Gene ENSMUSG00000020311
Gene Nameendoplasmic reticulum lectin 1
Synonyms4933407N01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00326
Quality Score
Status
Chromosome11
Chromosomal Location30930774-30954335 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30948510 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 180 (N180S)
Ref Sequence ENSEMBL: ENSMUSP00000072929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073192] [ENSMUST00000129593] [ENSMUST00000203878]
Predicted Effect possibly damaging
Transcript: ENSMUST00000073192
AA Change: N180S

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
AA Change: N180S

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 benign
Transcript: ENSMUST00000129593
SMART Domains Protein: ENSMUSP00000129078
Gene: ENSMUSG00000020311

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
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik G T 4: 62,543,744 probably null Het
9230109A22Rik G T 15: 25,139,115 noncoding transcript Het
Acd A T 8: 105,698,454 Y378N probably damaging Het
Adcy9 A G 16: 4,294,696 V709A probably benign Het
Axl A T 7: 25,785,899 L168H probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Drd3 G A 16: 43,762,321 R59H probably benign Het
Fnip2 G T 3: 79,481,521 S634R probably benign Het
Focad A T 4: 88,357,474 T1107S unknown Het
Galnt11 T C 5: 25,248,831 probably benign Het
Gigyf1 C T 5: 137,518,948 probably benign Het
Gpat2 A G 2: 127,432,396 T353A probably benign Het
Hip1 A G 5: 135,449,822 F178L probably damaging Het
Hist1h2bb G T 13: 23,747,128 V112L possibly damaging Het
Igkv6-13 A T 6: 70,457,661 S67T probably damaging Het
Iqch T C 9: 63,480,654 T824A probably damaging Het
Kansl1 A G 11: 104,424,466 S249P probably damaging Het
Large1 C T 8: 73,131,983 A86T probably benign Het
Lysmd3 C T 13: 81,665,244 A77V probably damaging Het
Npr3 T A 15: 11,895,694 S289C probably damaging Het
Olfr480 A G 7: 108,066,288 V140A probably benign Het
Olfr666 A T 7: 104,892,972 S219T probably damaging Het
Pear1 C T 3: 87,752,116 V804I possibly damaging Het
Rgs11 T A 17: 26,207,397 I230N probably damaging Het
Slc13a3 A T 2: 165,473,097 L22Q possibly damaging Het
Slc5a9 A G 4: 111,898,569 V44A probably damaging Het
Ttc12 G T 9: 49,471,206 probably null Het
Vmn2r2 A G 3: 64,133,898 probably benign Het
Zc3h18 T C 8: 122,386,852 probably benign Het
Zfp354a G A 11: 51,069,363 E132K probably benign Het
Other mutations in Erlec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Erlec1 APN 11 30939591 missense probably benign 0.04
IGL00766:Erlec1 APN 11 30950623 nonsense probably null
IGL01760:Erlec1 APN 11 30934731 missense probably benign 0.34
IGL02505:Erlec1 APN 11 30950767 missense probably damaging 1.00
IGL02633:Erlec1 APN 11 30948430 nonsense probably null
R0674:Erlec1 UTSW 11 30935073 intron probably benign
R1211:Erlec1 UTSW 11 30948298 critical splice donor site probably null
R1974:Erlec1 UTSW 11 30939604 missense possibly damaging 0.83
R4326:Erlec1 UTSW 11 30949972 missense probably benign
R4328:Erlec1 UTSW 11 30949972 missense probably benign
R4392:Erlec1 UTSW 11 30943697 critical splice donor site probably null
R4641:Erlec1 UTSW 11 30948442 nonsense probably null
R4697:Erlec1 UTSW 11 30952640 missense probably benign 0.27
R4917:Erlec1 UTSW 11 30934710 missense possibly damaging 0.56
R5486:Erlec1 UTSW 11 30935047 missense probably damaging 0.98
R5735:Erlec1 UTSW 11 30950591 missense probably benign 0.00
R5775:Erlec1 UTSW 11 30943848 missense probably benign 0.11
R6475:Erlec1 UTSW 11 30948442 nonsense probably null
R7027:Erlec1 UTSW 11 30950790 missense probably damaging 1.00
R7235:Erlec1 UTSW 11 30950751 missense possibly damaging 0.91
R7440:Erlec1 UTSW 11 30950818 missense possibly damaging 0.66
Posted On2012-04-20