Incidental Mutation 'R8213:Erp44'
ID 636242
Institutional Source Beutler Lab
Gene Symbol Erp44
Ensembl Gene ENSMUSG00000028343
Gene Name endoplasmic reticulum protein 44
Synonyms Txndc4, 1110001E24Rik
MMRRC Submission 067655-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R8213 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 48193323-48279558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48208783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 226 (S226T)
Ref Sequence ENSEMBL: ENSMUSP00000030028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030028]
AlphaFold Q9D1Q6
Predicted Effect probably benign
Transcript: ENSMUST00000030028
AA Change: S226T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
AA Change: S226T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Acss1 T A 2: 150,461,630 (GRCm39) D651V possibly damaging Het
Aktip G T 8: 91,851,494 (GRCm39) P243H possibly damaging Het
Arl11 T G 14: 61,548,714 (GRCm39) S175A probably benign Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Avil A T 10: 126,844,190 (GRCm39) I250F probably damaging Het
Btnl6 A T 17: 34,727,857 (GRCm39) probably null Het
Ccdc7b C A 8: 129,904,772 (GRCm39) Q137K probably benign Het
Cdk11b G A 4: 155,724,338 (GRCm39) E319K unknown Het
Chka A C 19: 3,935,882 (GRCm39) E196A probably damaging Het
Depdc5 C T 5: 33,094,981 (GRCm39) R753C probably damaging Het
Dhx57 T A 17: 80,582,585 (GRCm39) D340V possibly damaging Het
Dicer1 A T 12: 104,668,952 (GRCm39) D1243E probably benign Het
Dnajb9 A T 12: 44,253,916 (GRCm39) L164M probably benign Het
Dock6 A G 9: 21,742,740 (GRCm39) V785A possibly damaging Het
Efcab5 T C 11: 77,006,897 (GRCm39) Y909C probably damaging Het
Fgd6 A T 10: 93,879,914 (GRCm39) D256V probably benign Het
Fhl5 A T 4: 25,207,113 (GRCm39) Y218* probably null Het
Filip1 C A 9: 79,725,374 (GRCm39) A1082S probably benign Het
Heatr5a G A 12: 51,938,226 (GRCm39) T1484M probably damaging Het
Herc1 G T 9: 66,358,170 (GRCm39) R2417L probably damaging Het
Hnrnpr A G 4: 136,044,486 (GRCm39) probably benign Het
Igsf5 A T 16: 96,174,188 (GRCm39) I73F probably damaging Het
Il17ra T C 6: 120,449,995 (GRCm39) V91A probably benign Het
Inpp5f A G 7: 128,281,529 (GRCm39) D510G probably damaging Het
Kbtbd3 A G 9: 4,331,269 (GRCm39) K548E probably damaging Het
Kdm5d T A Y: 941,515 (GRCm39) C1239S probably damaging Het
Mamdc4 G A 2: 25,456,368 (GRCm39) T709M probably benign Het
Mybbp1a T A 11: 72,335,547 (GRCm39) Y353N probably damaging Het
Nepn A T 10: 52,267,855 (GRCm39) E40D probably benign Het
Nhsl3 A T 4: 129,115,252 (GRCm39) V1070D possibly damaging Het
Npat G T 9: 53,481,870 (GRCm39) E1193* probably null Het
Nrde2 G A 12: 100,097,262 (GRCm39) S846L probably benign Het
Nup205 T C 6: 35,202,138 (GRCm39) V1290A probably benign Het
Or10a49 C A 7: 108,467,726 (GRCm39) V212L probably benign Het
Or4d10b A G 19: 12,036,456 (GRCm39) V220A probably benign Het
Or5g9 T A 2: 85,551,845 (GRCm39) L32Q probably null Het
Pde6a A T 18: 61,353,768 (GRCm39) K31M possibly damaging Het
Pms2 C T 5: 143,851,589 (GRCm39) R169C probably damaging Het
Polr2g A T 19: 8,775,621 (GRCm39) L30Q probably damaging Het
Pramel22 T A 4: 143,380,755 (GRCm39) M423L probably benign Het
Pramel30 A T 4: 144,057,030 (GRCm39) D71V probably benign Het
Prdm15 T A 16: 97,608,260 (GRCm39) H679L probably damaging Het
Prl4a1 T G 13: 28,207,369 (GRCm39) Y214* probably null Het
Prlr C T 15: 10,329,328 (GRCm39) T601M possibly damaging Het
Psen2 A C 1: 180,073,256 (GRCm39) S22A probably benign Het
Ralgapa1 C A 12: 55,769,699 (GRCm39) R764L probably damaging Het
Scgb2b11 T C 7: 31,908,833 (GRCm39) E89G probably damaging Het
Serpina10 T C 12: 103,594,536 (GRCm39) I228V probably benign Het
Serpinb1a T A 13: 33,026,982 (GRCm39) H320L probably damaging Het
Sesn2 C A 4: 132,225,364 (GRCm39) Q267H possibly damaging Het
Sgsm1 A T 5: 113,398,877 (GRCm39) W1019R probably damaging Het
Sqle A G 15: 59,193,151 (GRCm39) probably null Het
Syt14 T C 1: 192,669,137 (GRCm39) M39V probably benign Het
Tgm7 A G 2: 120,931,545 (GRCm39) V206A probably damaging Het
Thbs4 T C 13: 92,897,094 (GRCm39) probably null Het
Trpv1 T C 11: 73,145,077 (GRCm39) F721S probably damaging Het
Ttll10 A T 4: 156,120,691 (GRCm39) M433K probably benign Het
Vmn1r216 T C 13: 23,283,695 (GRCm39) I126T probably benign Het
Vmn2r108 G A 17: 20,690,350 (GRCm39) S494F probably benign Het
Vwa3b C T 1: 37,168,020 (GRCm39) A603V probably benign Het
Xirp2 T A 2: 67,307,210 (GRCm39) N19K probably damaging Het
Zfp397 T A 18: 24,093,779 (GRCm39) N421K probably damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in Erp44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Erp44 APN 4 48,218,126 (GRCm39) missense probably benign 0.22
IGL02057:Erp44 APN 4 48,236,964 (GRCm39) missense probably benign 0.05
IGL03165:Erp44 APN 4 48,236,872 (GRCm39) critical splice donor site probably null
IGL03253:Erp44 APN 4 48,208,750 (GRCm39) missense probably benign 0.09
R0033:Erp44 UTSW 4 48,241,289 (GRCm39) splice site probably benign
R0033:Erp44 UTSW 4 48,241,289 (GRCm39) splice site probably benign
R4976:Erp44 UTSW 4 48,208,797 (GRCm39) missense probably benign 0.01
R5024:Erp44 UTSW 4 48,241,296 (GRCm39) nonsense probably null
R5175:Erp44 UTSW 4 48,196,823 (GRCm39) missense probably benign 0.41
R5224:Erp44 UTSW 4 48,279,435 (GRCm39) missense probably benign
R5359:Erp44 UTSW 4 48,211,704 (GRCm39) missense probably benign
R6128:Erp44 UTSW 4 48,243,493 (GRCm39) missense probably damaging 0.98
R6248:Erp44 UTSW 4 48,219,479 (GRCm39) nonsense probably null
R6649:Erp44 UTSW 4 48,205,130 (GRCm39) missense probably null 0.01
R6653:Erp44 UTSW 4 48,205,130 (GRCm39) missense probably null 0.01
R6911:Erp44 UTSW 4 48,204,268 (GRCm39) missense probably benign 0.17
R7061:Erp44 UTSW 4 48,219,375 (GRCm39) missense probably benign
R7209:Erp44 UTSW 4 48,211,704 (GRCm39) missense probably benign
R7291:Erp44 UTSW 4 48,208,792 (GRCm39) missense probably damaging 1.00
R7369:Erp44 UTSW 4 48,218,183 (GRCm39) missense probably benign
R7703:Erp44 UTSW 4 48,196,904 (GRCm39) missense probably benign 0.09
R7785:Erp44 UTSW 4 48,243,531 (GRCm39) missense probably benign 0.04
R7992:Erp44 UTSW 4 48,218,136 (GRCm39) missense possibly damaging 0.57
R8332:Erp44 UTSW 4 48,243,475 (GRCm39) critical splice donor site probably null
R9509:Erp44 UTSW 4 48,208,750 (GRCm39) missense probably benign 0.00
R9580:Erp44 UTSW 4 48,218,187 (GRCm39) nonsense probably null
R9647:Erp44 UTSW 4 48,205,166 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGCTCTATGAAACCAGCTGGG -3'
(R):5'- ATAATTGTCTTAAATCTGGGGAGGG -3'

Sequencing Primer
(F):5'- AGTGATGGCTCTCACAACTG -3'
(R):5'- AATCTGGGGAGGGTCTTTTATATCAC -3'
Posted On 2020-07-13