Incidental Mutation 'R7785:Erp44'
ID 599487
Institutional Source Beutler Lab
Gene Symbol Erp44
Ensembl Gene ENSMUSG00000028343
Gene Name endoplasmic reticulum protein 44
Synonyms Txndc4, 1110001E24Rik
MMRRC Submission 045841-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R7785 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 48193323-48279558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48243531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 26 (P26S)
Ref Sequence ENSEMBL: ENSMUSP00000030028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030028]
AlphaFold Q9D1Q6
Predicted Effect probably benign
Transcript: ENSMUST00000030028
AA Change: P26S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
AA Change: P26S

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
Meta Mutation Damage Score 0.0675 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 91% (40/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,262,617 (GRCm39) F70L probably benign Het
Abca8a T C 11: 109,965,032 (GRCm39) probably null Het
Adamts5 T C 16: 85,659,892 (GRCm39) D800G probably damaging Het
Afm T C 5: 90,698,032 (GRCm39) V478A possibly damaging Het
Akap7 T A 10: 25,096,559 (GRCm39) K233M probably damaging Het
Apbb1 T C 7: 105,216,630 (GRCm39) N61S probably benign Het
Atp8b1 A T 18: 64,689,921 (GRCm39) S604T probably damaging Het
Bcl2l14 G T 6: 134,409,223 (GRCm39) V266F possibly damaging Het
Btnl2 T A 17: 34,580,137 (GRCm39) H223Q probably benign Het
Cap2 A G 13: 46,789,224 (GRCm39) E255G probably benign Het
Chd6 A T 2: 160,812,095 (GRCm39) F1366Y possibly damaging Het
Cryl1 A T 14: 57,512,938 (GRCm39) S310T probably benign Het
Cyp2c69 A G 19: 39,839,610 (GRCm39) C338R probably damaging Het
Dclre1c C T 2: 3,425,273 (GRCm39) Q7* probably null Het
Dhcr7 A G 7: 143,399,209 (GRCm39) E193G probably damaging Het
Dnaaf10 T A 11: 17,179,785 (GRCm39) V262E probably damaging Het
Dnmt1 T C 9: 20,833,345 (GRCm39) K652E probably damaging Het
Emilin3 A T 2: 160,752,694 (GRCm39) C85* probably null Het
Fxr1 A G 3: 34,100,403 (GRCm39) I121V Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gpc5 A G 14: 115,654,632 (GRCm39) N484S probably benign Het
Grm8 A G 6: 27,618,636 (GRCm39) V402A probably damaging Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Iqgap1 A G 7: 80,387,917 (GRCm39) L910P probably damaging Het
Klra2 A T 6: 131,222,253 (GRCm39) F13I possibly damaging Het
Lmtk2 T C 5: 144,111,571 (GRCm39) S764P probably benign Het
Ndufs1 T C 1: 63,186,558 (GRCm39) D637G probably damaging Het
Nnmt G A 9: 48,503,309 (GRCm39) S239F probably benign Het
Pdcd11 A G 19: 47,093,125 (GRCm39) I468V probably benign Het
Pkhd1l1 T C 15: 44,406,965 (GRCm39) W2401R probably damaging Het
Plec C A 15: 76,090,029 (GRCm39) V104F unknown Het
Polq A G 16: 36,848,239 (GRCm39) Y282C probably damaging Het
Ppp1r37 A T 7: 19,265,996 (GRCm39) V590E probably damaging Het
Prr27 T C 5: 87,991,131 (GRCm39) S248P probably benign Het
Ros1 T C 10: 52,038,944 (GRCm39) E351G probably damaging Het
Scn11a T C 9: 119,645,622 (GRCm39) I111V probably benign Het
Slc35a1 A G 4: 34,675,148 (GRCm39) L130S probably damaging Het
Slc39a12 T C 2: 14,425,029 (GRCm39) L420P probably damaging Het
Sp140 T A 1: 85,547,819 (GRCm39) I182K probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Trpv3 C A 11: 73,168,558 (GRCm39) H42N probably benign Het
Zan A G 5: 137,427,405 (GRCm39) S2411P unknown 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
R7992:Erp44 UTSW 4 48,218,136 (GRCm39) missense possibly damaging 0.57
R8213:Erp44 UTSW 4 48,208,783 (GRCm39) missense probably benign 0.03
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'- CAATCAGTGAAATGAGCCAGAATC -3'
(R):5'- TCAGCACTTTCAGAATGGCTG -3'

Sequencing Primer
(F):5'- TGAGCCAGAATCTCAGCTTG -3'
(R):5'- ACCAATTTTTAGGCTGGGGAAG -3'
Posted On 2019-11-26