Incidental Mutation 'R6609:Get4'
| ID |
526444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Get4
|
| Ensembl Gene |
ENSMUSG00000025858 |
| Gene Name |
golgi to ER traffic protein 4 |
| Synonyms |
1110007L15Rik |
| MMRRC Submission |
044732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6609 (G1)
|
| Quality Score |
146.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139238079-139255806 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 139254820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026976]
[ENSMUST00000110865]
[ENSMUST00000110878]
[ENSMUST00000130326]
[ENSMUST00000138508]
|
| AlphaFold |
Q9D1H7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000026976
AA Change: D327G
|
| SMART Domains |
Protein: ENSMUSP00000026976
Gene: ENSMUSG00000025858
AA Change: D327G
| 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: ENSMUST00000110865
|
| SMART Domains |
Protein: ENSMUSP00000106489
Gene: ENSMUSG00000056413
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
126 |
2.45e-60 |
SMART |
|
PH
|
130 |
232 |
1.02e-5 |
SMART |
|
PH
|
253 |
358 |
9.48e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110878
AA Change: D274G
|
| SMART Domains |
Protein: ENSMUSP00000106502
Gene: ENSMUSG00000025858
AA Change: D274G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF410
|
1 |
250 |
2.6e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130326
|
| SMART Domains |
Protein: ENSMUSP00000117473
Gene: ENSMUSG00000025858
| 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 |
noncoding transcript
Transcript: ENSMUST00000196271
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000151450
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138059
|
| Meta Mutation Damage Score |
0.1260 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,892,497 (GRCm39) |
V421I |
probably damaging |
Het |
| Bpifb3 |
T |
A |
2: 153,762,568 (GRCm39) |
|
probably null |
Het |
| C1rl |
T |
C |
6: 124,485,583 (GRCm39) |
V318A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,543,061 (GRCm39) |
V1264M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,129 (GRCm39) |
D1551G |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,928,839 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
G |
A |
5: 107,120,924 (GRCm39) |
R182H |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
T |
11: 118,061,686 (GRCm39) |
L309Q |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,030,678 (GRCm39) |
T3378I |
possibly damaging |
Het |
| Gm136 |
T |
A |
4: 34,746,526 (GRCm39) |
M162L |
probably benign |
Het |
| Grik5 |
G |
T |
7: 24,714,951 (GRCm39) |
S681* |
probably null |
Het |
| Hsf5 |
C |
T |
11: 87,526,779 (GRCm39) |
P484S |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kl |
A |
T |
5: 150,912,427 (GRCm39) |
K725N |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,646,735 (GRCm39) |
V144M |
probably damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,598,453 (GRCm39) |
V363A |
probably benign |
Het |
| Mettl15 |
T |
C |
2: 108,967,687 (GRCm39) |
R200G |
probably null |
Het |
| Mki67 |
T |
C |
7: 135,301,558 (GRCm39) |
T1159A |
possibly damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
C |
G |
3: 32,795,832 (GRCm39) |
T8R |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,509 (GRCm39) |
M140V |
probably benign |
Het |
| Or6ae1 |
C |
A |
7: 139,742,476 (GRCm39) |
R129L |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,736,484 (GRCm39) |
D15V |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,294,909 (GRCm39) |
G191S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,408,829 (GRCm39) |
T1895A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,940 (GRCm39) |
V1039A |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,024,717 (GRCm39) |
I456V |
possibly damaging |
Het |
| Smco4 |
C |
T |
9: 15,456,031 (GRCm39) |
A39V |
probably damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zfp985 |
A |
T |
4: 147,667,578 (GRCm39) |
M149L |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,668,124 (GRCm39) |
F331L |
probably damaging |
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 |
|
|
R3805:Get4
|
UTSW |
5 |
139,238,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3807:Get4
|
UTSW |
5 |
139,238,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CACGGCAGGGTAGATCTTTG -3'
(R):5'- ACACGATTGGCCAGCAGAAG -3'
Sequencing Primer
(F):5'- CACGGCAGGGTAGATCTTTGTCTAG -3'
(R):5'- AGAAGCTGGGCCTTGCTC -3'
|
| Posted On |
2018-06-25 |
Incidental Mutation