Incidental Mutation 'IGL02057:Erp44'
ID185265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erp44
Ensembl Gene ENSMUSG00000028343
Gene Nameendoplasmic reticulum protein 44
Synonyms1110001E24Rik, Txndc4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL02057
Quality Score
Status
Chromosome4
Chromosomal Location48193323-48279558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 48236964 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 65 (H65Q)
Ref Sequence ENSEMBL: ENSMUSP00000030028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030028]
Predicted Effect probably benign
Transcript: ENSMUST00000030028
AA Change: H65Q

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
AA Change: H65Q

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:Calsequestrin 29 205 6.4e-12 PFAM
Pfam:Thioredoxin 30 139 1.1e-23 PFAM
Pfam:Thioredoxin_6 167 350 8.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148947
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 member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit light coat colour, small stature and scaly tail. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,416,772 N369S probably damaging Het
Atp13a3 C T 16: 30,332,364 A1043T probably benign Het
AY358078 G A 14: 51,820,305 V287I unknown Het
Cemip T C 7: 83,987,453 E324G probably damaging Het
Ckap5 T A 2: 91,600,707 D1487E possibly damaging Het
Dscam G A 16: 96,716,073 Q879* probably null Het
Eci2 A G 13: 34,990,776 L50P probably damaging Het
Fahd1 A T 17: 24,849,596 I169N probably damaging Het
Galm T C 17: 80,181,567 I214T probably benign Het
Gipc3 T A 10: 81,343,134 N42Y probably damaging Het
Gm10696 T A 3: 94,176,355 S50C probably damaging Het
H2-Eb2 A T 17: 34,335,767 probably benign Het
Itgb3 A T 11: 104,632,348 I113F probably damaging Het
Lef1 T G 3: 131,200,402 Y342* probably null Het
Lilrb4a G A 10: 51,492,007 D168N possibly damaging Het
Olfr1023 T A 2: 85,886,931 F44I probably benign Het
Olfr623 T A 7: 103,660,653 Y199F probably damaging Het
Orc1 T G 4: 108,588,729 S15A possibly damaging Het
Pdk2 C T 11: 95,028,498 G317D probably benign Het
Rab37 T C 11: 115,160,717 S217P probably benign Het
Rere C T 4: 150,614,832 probably benign Het
Scn11a C T 9: 119,765,470 G1286S probably damaging Het
Sirt1 A G 10: 63,325,203 S357P probably damaging Het
Smpdl3b T A 4: 132,733,713 E351V probably benign Het
Sox6 C A 7: 115,550,075 G355W probably damaging Het
Srpk2 G T 5: 23,518,707 A502E probably damaging Het
Trim67 G A 8: 124,823,130 V500I probably benign Het
Ube2v2 A G 16: 15,577,058 V83A probably benign Het
Usp43 A T 11: 67,856,287 S865T probably benign Het
Vdac1 G A 11: 52,376,544 probably null Het
Vmn2r69 T A 7: 85,411,782 H198L possibly damaging Het
Vmn2r93 T C 17: 18,325,770 C635R probably damaging Het
Other mutations in Erp44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Erp44 APN 4 48218126 missense probably benign 0.22
IGL03165:Erp44 APN 4 48236872 critical splice donor site probably null
IGL03253:Erp44 APN 4 48208750 missense probably benign 0.09
R0033:Erp44 UTSW 4 48241289 splice site probably benign
R0033:Erp44 UTSW 4 48241289 splice site probably benign
R4976:Erp44 UTSW 4 48208797 missense probably benign 0.01
R5024:Erp44 UTSW 4 48241296 nonsense probably null
R5175:Erp44 UTSW 4 48196823 missense probably benign 0.41
R5224:Erp44 UTSW 4 48279435 missense probably benign
R5359:Erp44 UTSW 4 48211704 missense probably benign
R6128:Erp44 UTSW 4 48243493 missense probably damaging 0.98
R6248:Erp44 UTSW 4 48219479 nonsense probably null
R6649:Erp44 UTSW 4 48205130 missense probably null 0.01
R6653:Erp44 UTSW 4 48205130 missense probably null 0.01
R6911:Erp44 UTSW 4 48204268 missense probably benign 0.17
R7061:Erp44 UTSW 4 48219375 missense probably benign
R7209:Erp44 UTSW 4 48211704 missense probably benign
R7291:Erp44 UTSW 4 48208792 missense probably damaging 1.00
R7369:Erp44 UTSW 4 48218183 missense probably benign
R7703:Erp44 UTSW 4 48196904 missense probably benign 0.09
R7785:Erp44 UTSW 4 48243531 missense probably benign 0.04
R7992:Erp44 UTSW 4 48218136 missense possibly damaging 0.57
R8213:Erp44 UTSW 4 48208783 missense probably benign 0.03
R8332:Erp44 UTSW 4 48243475 critical splice donor site probably null
Posted On2014-05-07