Incidental Mutation 'IGL02057:Erp44'
| ID |
185265 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Erp44
|
| Ensembl Gene |
ENSMUSG00000028343 |
| Gene Name |
endoplasmic reticulum protein 44 |
| Synonyms |
Txndc4, 1110001E24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
48193323-48279558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48236964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 65
(H65Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030028]
|
| AlphaFold |
Q9D1Q6 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
| Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
| Other mutations in Erp44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Erp44
|
APN |
4 |
48,218,126 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation