Incidental Mutation 'R3805:Get4'
| ID |
274546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Get4
|
| Ensembl Gene |
ENSMUSG00000025858 |
| Gene Name |
golgi to ER traffic protein 4 |
| Synonyms |
1110007L15Rik |
| MMRRC Submission |
040762-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3805 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139238079-139255806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 139238286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 23
(V23F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026976]
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000110878]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000130326]
[ENSMUST00000138508]
|
| AlphaFold |
Q9D1H7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026976
AA Change: V23F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026976
Gene: ENSMUSG00000025858
AA Change: V23F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
8 |
N/A |
INTRINSIC |
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF410
|
56 |
306 |
4.6e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058716
|
| SMART Domains |
Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
SCOP:d1qovm1
|
334 |
450 |
2e-3 |
SMART |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
coiled coil region
|
492 |
527 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
572 |
689 |
3e-3 |
SMART |
|
Pfam:Sad1_UNC
|
777 |
911 |
2.2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078690
|
| SMART Domains |
Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
SCOP:d1qovm1
|
270 |
386 |
2e-3 |
SMART |
|
low complexity region
|
402 |
411 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
463 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
508 |
625 |
2e-3 |
SMART |
|
Pfam:Sad1_UNC
|
713 |
847 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110878
|
| SMART Domains |
Protein: ENSMUSP00000106502
Gene: ENSMUSG00000025858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF410
|
1 |
250 |
2.6e-108 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110882
|
| SMART Domains |
Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
371 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
416 |
533 |
4e-3 |
SMART |
|
Pfam:Sad1_UNC
|
621 |
755 |
7.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110883
|
| SMART Domains |
Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
SCOP:d1qovm1
|
233 |
327 |
4e-3 |
SMART |
|
low complexity region
|
343 |
352 |
N/A |
INTRINSIC |
|
coiled coil region
|
369 |
404 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
449 |
566 |
3e-3 |
SMART |
|
Pfam:Sad1_UNC
|
654 |
788 |
1.7e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110884
|
| SMART Domains |
Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
|
Pfam:MRP
|
274 |
381 |
1.8e-8 |
PFAM |
|
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
438 |
N/A |
INTRINSIC |
|
coiled coil region
|
455 |
490 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
535 |
652 |
4e-3 |
SMART |
|
Pfam:Sad1_UNC
|
740 |
874 |
2e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130326
AA Change: V23F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117473
Gene: ENSMUSG00000025858
AA Change: V23F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
8 |
N/A |
INTRINSIC |
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF410
|
54 |
246 |
1.1e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138508
|
| SMART Domains |
Protein: ENSMUSP00000116975
Gene: ENSMUSG00000025858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF410
|
1 |
197 |
4.5e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127310
|
| SMART Domains |
Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
PDB:4DXS|A
|
38 |
73 |
3e-6 |
PDB |
|
| Meta Mutation Damage Score |
0.1510 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
| Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
| Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
| Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
| Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
| Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
| Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
| Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
| Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
| Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
| Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
Het |
|
| Other mutations in Get4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Get4
|
APN |
5 |
139,238,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02219:Get4
|
APN |
5 |
139,249,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02348:Get4
|
APN |
5 |
139,238,254 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0741:Get4
|
UTSW |
5 |
139,249,384 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R3807:Get4
|
UTSW |
5 |
139,238,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6609:Get4
|
UTSW |
5 |
139,254,820 (GRCm39) |
unclassified |
probably benign |
|
|
R7026:Get4
|
UTSW |
5 |
139,238,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8066:Get4
|
UTSW |
5 |
139,249,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8292:Get4
|
UTSW |
5 |
139,248,686 (GRCm39) |
missense |
probably null |
0.01 |
|
R8428:Get4
|
UTSW |
5 |
139,251,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGGGTCCTTCTCAGAC -3'
(R):5'- AGCCGCATAAACCAATGAGG -3'
Sequencing Primer
(F):5'- TCCGCCTCGATCACGTG -3'
(R):5'- CGCATAAACCAATGAGGGTGCG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation