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 |
Txndc4, 1110001E24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
IGL03165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
48193323-48279558 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 48236872 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 null
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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,205,959 (GRCm39) |
Y519F |
probably benign |
Het |
| C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
| Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
| Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
| Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
| Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
| Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
| Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
| Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
| Fstl3 |
A |
G |
10: 79,615,799 (GRCm39) |
D95G |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
| Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
C |
A |
6: 39,147,848 (GRCm39) |
|
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
| Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
| Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
A |
8: 46,372,035 (GRCm39) |
L360Q |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
| Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
| Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
| Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
| Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,642,237 (GRCm39) |
D45G |
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 |
|
IGL02057:Erp44
|
APN |
4 |
48,236,964 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2016-08-02 |
Incidental Mutation