Incidental Mutation 'IGL01064:Get4'
| ID |
51019 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Get4
|
| Ensembl Gene |
ENSMUSG00000025858 |
| Gene Name |
golgi to ER traffic protein 4 |
| Synonyms |
1110007L15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
139238079-139255806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 139238277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 20
(R20C)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026976
AA Change: R20C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026976
Gene: ENSMUSG00000025858
AA Change: R20C
| 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: R20C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117473
Gene: ENSMUSG00000025858
AA Change: R20C
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,433,855 (GRCm39) |
T4137S |
probably benign |
Het |
| Abcb1a |
T |
C |
5: 8,782,388 (GRCm39) |
Y924H |
possibly damaging |
Het |
| Ash1l |
T |
G |
3: 88,979,791 (GRCm39) |
C2772G |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,187 (GRCm39) |
F106S |
probably damaging |
Het |
| Cysltr1 |
A |
T |
X: 105,622,342 (GRCm39) |
I48N |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,263 (GRCm39) |
I779F |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,779 (GRCm39) |
L262H |
probably damaging |
Het |
| Gart |
G |
A |
16: 91,419,895 (GRCm39) |
R871C |
probably damaging |
Het |
| Gm13030 |
G |
A |
4: 138,600,869 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
A |
T |
14: 43,816,455 (GRCm39) |
H49Q |
unknown |
Het |
| Gpnmb |
A |
G |
6: 49,032,593 (GRCm39) |
I506V |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,409,243 (GRCm39) |
I86V |
probably damaging |
Het |
| Kcnip1 |
C |
T |
11: 33,583,192 (GRCm39) |
D198N |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,584,828 (GRCm39) |
I184V |
possibly damaging |
Het |
| Mink1 |
A |
T |
11: 70,494,307 (GRCm39) |
M236L |
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,210 (GRCm39) |
N1507I |
probably benign |
Het |
| Nrxn2 |
G |
T |
19: 6,567,083 (GRCm39) |
E1326D |
probably damaging |
Het |
| Or10ak8 |
A |
T |
4: 118,774,091 (GRCm39) |
M191K |
possibly damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,999 (GRCm39) |
Y200F |
probably benign |
Het |
| Or5b3 |
T |
C |
19: 13,388,590 (GRCm39) |
I219T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,385,210 (GRCm39) |
S326P |
possibly damaging |
Het |
| Pdha2 |
T |
C |
3: 140,916,776 (GRCm39) |
H244R |
possibly damaging |
Het |
| Pgap4 |
C |
T |
4: 49,586,860 (GRCm39) |
V103M |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,754 (GRCm39) |
|
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,884,492 (GRCm39) |
L746* |
probably null |
Het |
| Rad54b |
G |
A |
4: 11,604,866 (GRCm39) |
G438D |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,452,879 (GRCm39) |
V536A |
possibly damaging |
Het |
| Rundc3b |
T |
A |
5: 8,619,553 (GRCm39) |
M135L |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,222,696 (GRCm39) |
Y353C |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,159,064 (GRCm39) |
|
probably benign |
Het |
| Sytl5 |
A |
G |
X: 9,771,834 (GRCm39) |
H66R |
probably benign |
Het |
| Tlr7 |
T |
A |
X: 166,091,207 (GRCm39) |
E93V |
probably damaging |
Het |
| Tmem156 |
A |
G |
5: 65,237,327 (GRCm39) |
L76S |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,972,975 (GRCm39) |
F571S |
probably damaging |
Het |
| Trmt10b |
A |
G |
4: 45,314,347 (GRCm39) |
Y261C |
possibly damaging |
Het |
|
| Other mutations in Get4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation