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)
|
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
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 |
|
Meta Mutation Damage Score |
0.0675 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |