Incidental Mutation 'R0033:Erp44'
| ID |
18615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erp44
|
| Ensembl Gene |
ENSMUSG00000028343 |
| Gene Name |
endoplasmic reticulum protein 44 |
| Synonyms |
Txndc4, 1110001E24Rik |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48193323-48279558 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 48241289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030028]
|
| AlphaFold |
Q9D1Q6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030028
|
| SMART Domains |
Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
| 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 |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly 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 |
|
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 |
|
|
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 |
2013-03-25 |
Incidental Mutation