Incidental Mutation 'IGL03124:Zgpat'
| ID |
410090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zgpat
|
| Ensembl Gene |
ENSMUSG00000027582 |
| Gene Name |
zinc finger, CCCH-type with G patch domain |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181006724-181022586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181007973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 170
(Y170C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029105]
[ENSMUST00000108807]
[ENSMUST00000108808]
[ENSMUST00000116366]
[ENSMUST00000127988]
[ENSMUST00000185118]
[ENSMUST00000170190]
[ENSMUST00000183499]
|
| AlphaFold |
Q8VDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029105
AA Change: Y170C
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582
AA Change: Y170C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
174 |
199 |
5.99e-4 |
SMART |
|
SCOP:d1g5va_
|
218 |
268 |
2e-3 |
SMART |
|
low complexity region
|
270 |
287 |
N/A |
INTRINSIC |
|
G_patch
|
311 |
357 |
1.34e-9 |
SMART |
|
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000048269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108807
AA Change: Y170C
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582
AA Change: Y170C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
174 |
199 |
5.99e-4 |
SMART |
|
SCOP:d1g5va_
|
218 |
268 |
2e-3 |
SMART |
|
low complexity region
|
270 |
287 |
N/A |
INTRINSIC |
|
G_patch
|
311 |
357 |
1.34e-9 |
SMART |
|
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108808
|
| SMART Domains |
Protein: ENSMUSP00000104436
Gene: ENSMUSG00000038671
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
191 |
1.71e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116366
AA Change: Y170C
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582
AA Change: Y170C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
174 |
199 |
5.99e-4 |
SMART |
|
SCOP:d1g5va_
|
218 |
268 |
2e-3 |
SMART |
|
low complexity region
|
270 |
287 |
N/A |
INTRINSIC |
|
G_patch
|
311 |
357 |
1.34e-9 |
SMART |
|
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127988
|
| SMART Domains |
Protein: ENSMUSP00000122066
Gene: ENSMUSG00000038671
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
191 |
1.71e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184859
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185118
|
| SMART Domains |
Protein: ENSMUSP00000139211
Gene: ENSMUSG00000038671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
4 |
120 |
1.6e-30 |
PFAM |
|
Pfam:SRPRB
|
15 |
116 |
6.6e-8 |
PFAM |
|
Pfam:Ras
|
19 |
116 |
2.1e-9 |
PFAM |
|
Pfam:Miro
|
19 |
117 |
7.3e-12 |
PFAM |
|
Pfam:MMR_HSR1
|
19 |
117 |
1.2e-7 |
PFAM |
|
Pfam:Gtr1_RagA
|
19 |
119 |
5.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170190
|
| SMART Domains |
Protein: ENSMUSP00000126387
Gene: ENSMUSG00000038671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
1 |
90 |
1.2e-9 |
PFAM |
|
Pfam:Arf
|
1 |
140 |
8.5e-38 |
PFAM |
|
Pfam:Gtr1_RagA
|
2 |
110 |
2.2e-6 |
PFAM |
|
Pfam:SRPRB
|
4 |
118 |
6e-8 |
PFAM |
|
Pfam:Ras
|
4 |
142 |
2.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183499
|
| SMART Domains |
Protein: ENSMUSP00000138941
Gene: ENSMUSG00000038671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
4 |
61 |
4.8e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,268,449 (GRCm39) |
|
probably benign |
Het |
| 4931414P19Rik |
A |
G |
14: 54,832,596 (GRCm39) |
V193A |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,989,490 (GRCm39) |
S645P |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,655,401 (GRCm39) |
I3316V |
probably benign |
Het |
| Apc |
T |
G |
18: 34,433,038 (GRCm39) |
H424Q |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,202,537 (GRCm39) |
|
probably null |
Het |
| Car13 |
C |
T |
3: 14,722,000 (GRCm39) |
P182L |
possibly damaging |
Het |
| Ccdc87 |
T |
G |
19: 4,891,082 (GRCm39) |
S525A |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,002,012 (GRCm39) |
N39D |
probably benign |
Het |
| Cyp2j13 |
C |
A |
4: 95,950,159 (GRCm39) |
A281S |
possibly damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,904,786 (GRCm39) |
|
probably null |
Het |
| Fat4 |
C |
A |
3: 39,035,701 (GRCm39) |
R3118S |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,926,803 (GRCm39) |
V171M |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,312,380 (GRCm39) |
G1540V |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,385,258 (GRCm39) |
D234G |
unknown |
Het |
| Igsf10 |
T |
C |
3: 59,227,086 (GRCm39) |
T2196A |
probably benign |
Het |
| Kctd19 |
T |
A |
8: 106,113,702 (GRCm39) |
Q657L |
possibly damaging |
Het |
| Klhl40 |
T |
A |
9: 121,609,751 (GRCm39) |
I512N |
probably damaging |
Het |
| Lima1 |
A |
T |
15: 99,694,615 (GRCm39) |
|
probably benign |
Het |
| Map2k4 |
A |
C |
11: 65,581,617 (GRCm39) |
I365S |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,874,753 (GRCm39) |
K1346N |
probably damaging |
Het |
| Met |
T |
A |
6: 17,492,077 (GRCm39) |
F280I |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,828,551 (GRCm39) |
T101A |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,886,452 (GRCm39) |
F605L |
probably benign |
Het |
| Odr4 |
A |
G |
1: 150,262,176 (GRCm39) |
V88A |
probably benign |
Het |
| Or51k1 |
G |
T |
7: 103,661,001 (GRCm39) |
Q303K |
probably benign |
Het |
| Or5ae2 |
T |
A |
7: 84,505,931 (GRCm39) |
M118K |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,212,459 (GRCm39) |
M322K |
probably benign |
Het |
| Pck2 |
C |
T |
14: 55,782,790 (GRCm39) |
T373I |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pecr |
A |
C |
1: 72,316,499 (GRCm39) |
S69A |
probably benign |
Het |
| Pgap6 |
G |
A |
17: 26,335,808 (GRCm39) |
R65Q |
probably damaging |
Het |
| Pitpnb |
A |
G |
5: 111,478,696 (GRCm39) |
E6G |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,631,142 (GRCm39) |
F212I |
possibly damaging |
Het |
| Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
| Scp2 |
T |
A |
4: 107,921,103 (GRCm39) |
I36F |
probably damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,619,895 (GRCm39) |
T74A |
probably damaging |
Het |
| Spmip6 |
T |
C |
4: 41,507,287 (GRCm39) |
N170D |
possibly damaging |
Het |
| St6galnac1 |
G |
A |
11: 116,666,125 (GRCm39) |
A35V |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,624,704 (GRCm39) |
Y1749N |
probably benign |
Het |
| Trav17 |
T |
C |
14: 54,044,106 (GRCm39) |
V4A |
probably benign |
Het |
| Vmn1r57 |
A |
T |
7: 5,224,021 (GRCm39) |
H182L |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,296,255 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zgpat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Zgpat
|
APN |
2 |
181,020,682 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02221:Zgpat
|
APN |
2 |
181,020,651 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02507:Zgpat
|
APN |
2 |
181,008,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Zgpat
|
UTSW |
2 |
181,021,985 (GRCm39) |
splice site |
probably benign |
|
|
R1451:Zgpat
|
UTSW |
2 |
181,021,984 (GRCm39) |
splice site |
probably benign |
|
|
R1541:Zgpat
|
UTSW |
2 |
181,020,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1758:Zgpat
|
UTSW |
2 |
181,020,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2445:Zgpat
|
UTSW |
2 |
181,007,953 (GRCm39) |
nonsense |
probably null |
|
|
R3038:Zgpat
|
UTSW |
2 |
181,007,811 (GRCm39) |
unclassified |
probably benign |
|
|
R3700:Zgpat
|
UTSW |
2 |
181,007,439 (GRCm39) |
unclassified |
probably benign |
|
|
R4888:Zgpat
|
UTSW |
2 |
181,020,651 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5594:Zgpat
|
UTSW |
2 |
181,007,420 (GRCm39) |
unclassified |
probably benign |
|
|
R6890:Zgpat
|
UTSW |
2 |
181,020,304 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7023:Zgpat
|
UTSW |
2 |
181,007,811 (GRCm39) |
unclassified |
probably benign |
|
|
R7350:Zgpat
|
UTSW |
2 |
181,022,228 (GRCm39) |
missense |
|
|
|
R7396:Zgpat
|
UTSW |
2 |
181,007,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7964:Zgpat
|
UTSW |
2 |
181,020,274 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9346:Zgpat
|
UTSW |
2 |
181,021,844 (GRCm39) |
missense |
probably benign |
|
|
R9377:Zgpat
|
UTSW |
2 |
181,021,646 (GRCm39) |
nonsense |
probably null |
|
|
R9561:Zgpat
|
UTSW |
2 |
181,021,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Zgpat
|
UTSW |
2 |
181,007,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation