Incidental Mutation 'R1188:Get3'
| ID |
102357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Get3
|
| Ensembl Gene |
ENSMUSG00000052456 |
| Gene Name |
guided entry of tail-anchored proteins factor 3, ATPase |
| Synonyms |
Asna1, 1810048H22Rik, ArsA |
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
156 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85744560-85751910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85746422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 142
(I142T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064314]
|
| AlphaFold |
O54984 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064314
AA Change: I142T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065337
Gene: ENSMUSG00000052456
AA Change: I142T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:ArsA_ATPase
|
37 |
340 |
2.2e-127 |
PFAM |
|
Pfam:CbiA
|
39 |
311 |
5.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211702
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null mutation display early embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
| Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
|
| Other mutations in Get3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01992:Get3
|
APN |
8 |
85,745,185 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0012:Get3
|
UTSW |
8 |
85,751,725 (GRCm39) |
splice site |
probably benign |
|
|
R0378:Get3
|
UTSW |
8 |
85,751,893 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0504:Get3
|
UTSW |
8 |
85,745,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Get3
|
UTSW |
8 |
85,751,789 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2029:Get3
|
UTSW |
8 |
85,746,403 (GRCm39) |
nonsense |
probably null |
|
|
R2264:Get3
|
UTSW |
8 |
85,751,887 (GRCm39) |
unclassified |
probably benign |
|
|
R2511:Get3
|
UTSW |
8 |
85,746,395 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4676:Get3
|
UTSW |
8 |
85,745,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5401:Get3
|
UTSW |
8 |
85,745,173 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6465:Get3
|
UTSW |
8 |
85,745,194 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7378:Get3
|
UTSW |
8 |
85,746,492 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8029:Get3
|
UTSW |
8 |
85,746,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTGTCGAACACTACCACTGAG -3'
(R):5'- TCAGAGGTGACCCACATTAGAGGC -3'
Sequencing Primer
(F):5'- GAGAAGTTCATGCCTTTCACCAG -3'
(R):5'- TGACCCACATTAGAGGCATAATCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation