Incidental Mutation 'IGL03165:Erp44'
ID 411614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erp44
Ensembl Gene ENSMUSG00000028343
Gene Name endoplasmic reticulum protein 44
Synonyms 1110001E24Rik, Txndc4
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # IGL03165
Quality Score
Chromosome 4
Chromosomal Location 48193323-48279558 bp(-) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 48236872 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030028]
AlphaFold Q9D1Q6
Predicted Effect probably null
Transcript: ENSMUST00000030028
SMART Domains Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,094,394 (GRCm38) I334V probably benign Het
Axdnd1 T A 1: 156,378,389 (GRCm38) Y519F probably benign Het
C4b A G 17: 34,739,955 (GRCm38) F500S probably benign Het
Cacng2 A T 15: 77,995,663 (GRCm38) I153N possibly damaging Het
Ces1d T A 8: 93,189,519 (GRCm38) H160L probably benign Het
Cnnm3 T G 1: 36,525,232 (GRCm38) probably benign Het
Ctnna3 A G 10: 64,945,941 (GRCm38) T728A probably damaging Het
Cyp2g1 G A 7: 26,809,776 (GRCm38) V92M possibly damaging Het
Dock2 C A 11: 34,687,533 (GRCm38) V35F probably damaging Het
Eif2a C A 3: 58,548,628 (GRCm38) Y349* probably null Het
Flg2 C T 3: 93,214,611 (GRCm38) H1363Y unknown Het
Flnc G T 6: 29,449,378 (GRCm38) G1425W probably damaging Het
Frem3 A G 8: 80,612,529 (GRCm38) N484D probably benign Het
Fstl3 A G 10: 79,779,965 (GRCm38) D95G probably benign Het
Gldc A G 19: 30,098,993 (GRCm38) S1018P possibly damaging Het
Gstk1 T G 6: 42,249,434 (GRCm38) I159S probably benign Het
Herc2 A G 7: 56,191,912 (GRCm38) E3513G probably damaging Het
Hpca A T 4: 129,118,590 (GRCm38) I51N probably damaging Het
Hsd17b7 C T 1: 169,953,080 (GRCm38) E320K probably damaging Het
Igkv4-74 T C 6: 69,185,305 (GRCm38) probably benign Het
Kdm7a C A 6: 39,170,914 (GRCm38) probably benign Het
Olfr1040 A C 2: 86,146,068 (GRCm38) L222R possibly damaging Het
Olfr382 A T 11: 73,516,884 (GRCm38) L105* probably null Het
Olfr619 T C 7: 103,604,011 (GRCm38) I119T probably damaging Het
Pa2g4 A T 10: 128,559,060 (GRCm38) probably null Het
Pdlim3 T A 8: 45,918,998 (GRCm38) L360Q possibly damaging Het
Pkd1l2 G A 8: 117,065,745 (GRCm38) T436I probably benign Het
Polk T A 13: 96,516,688 (GRCm38) Q68L probably benign Het
Ppfia2 T G 10: 106,767,487 (GRCm38) L195R probably damaging Het
Ranbp1 A T 16: 18,247,281 (GRCm38) probably benign Het
Rbm12b1 A G 4: 12,145,845 (GRCm38) R606G possibly damaging Het
Ryr1 A G 7: 29,105,040 (GRCm38) V488A probably benign Het
Sall2 A T 14: 52,314,168 (GRCm38) D521E probably damaging Het
Sntg1 A T 1: 8,445,104 (GRCm38) C402S probably damaging Het
Spg7 T C 8: 123,080,812 (GRCm38) probably null Het
Stk31 G A 6: 49,445,264 (GRCm38) E750K probably damaging Het
Tlr2 A G 3: 83,837,948 (GRCm38) I276T probably benign Het
Trav12-2 A T 14: 53,616,749 (GRCm38) H60L probably benign Het
Urb1 A G 16: 90,780,304 (GRCm38) L775S probably damaging Het
Utp14b A G 1: 78,664,520 (GRCm38) D45G probably damaging Het
Other mutations in Erp44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Erp44 APN 4 48,218,126 (GRCm38) missense probably benign 0.22
IGL02057:Erp44 APN 4 48,236,964 (GRCm38) missense probably benign 0.05
IGL03253:Erp44 APN 4 48,208,750 (GRCm38) missense probably benign 0.09
R0033:Erp44 UTSW 4 48,241,289 (GRCm38) splice site probably benign
R0033:Erp44 UTSW 4 48,241,289 (GRCm38) splice site probably benign
R4976:Erp44 UTSW 4 48,208,797 (GRCm38) missense probably benign 0.01
R5024:Erp44 UTSW 4 48,241,296 (GRCm38) nonsense probably null
R5175:Erp44 UTSW 4 48,196,823 (GRCm38) missense probably benign 0.41
R5224:Erp44 UTSW 4 48,279,435 (GRCm38) missense probably benign
R5359:Erp44 UTSW 4 48,211,704 (GRCm38) missense probably benign
R6128:Erp44 UTSW 4 48,243,493 (GRCm38) missense probably damaging 0.98
R6248:Erp44 UTSW 4 48,219,479 (GRCm38) nonsense probably null
R6649:Erp44 UTSW 4 48,205,130 (GRCm38) missense probably null 0.01
R6653:Erp44 UTSW 4 48,205,130 (GRCm38) missense probably null 0.01
R6911:Erp44 UTSW 4 48,204,268 (GRCm38) missense probably benign 0.17
R7061:Erp44 UTSW 4 48,219,375 (GRCm38) missense probably benign
R7209:Erp44 UTSW 4 48,211,704 (GRCm38) missense probably benign
R7291:Erp44 UTSW 4 48,208,792 (GRCm38) missense probably damaging 1.00
R7369:Erp44 UTSW 4 48,218,183 (GRCm38) missense probably benign
R7703:Erp44 UTSW 4 48,196,904 (GRCm38) missense probably benign 0.09
R7785:Erp44 UTSW 4 48,243,531 (GRCm38) missense probably benign 0.04
R7992:Erp44 UTSW 4 48,218,136 (GRCm38) missense possibly damaging 0.57
R8213:Erp44 UTSW 4 48,208,783 (GRCm38) missense probably benign 0.03
R8332:Erp44 UTSW 4 48,243,475 (GRCm38) critical splice donor site probably null
R9509:Erp44 UTSW 4 48,208,750 (GRCm38) missense probably benign 0.00
R9580:Erp44 UTSW 4 48,218,187 (GRCm38) nonsense probably null
R9647:Erp44 UTSW 4 48,205,166 (GRCm38) missense probably benign 0.02
Posted On 2016-08-02