Incidental Mutation 'IGL02221:Zgpat'
| ID |
285158 |
| 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 # |
IGL02221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181006724-181022586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181020651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 275
(S275P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029105]
[ENSMUST00000048077]
[ENSMUST00000108804]
[ENSMUST00000108807]
[ENSMUST00000116366]
|
| AlphaFold |
Q8VDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029105
AA Change: S275P
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582
AA Change: S275P
| 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: ENSMUST00000048077
|
| SMART Domains |
Protein: ENSMUSP00000045010
Gene: ENSMUSG00000090077
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIME1
|
27 |
266 |
5.6e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108804
|
| SMART Domains |
Protein: ENSMUSP00000104432
Gene: ENSMUSG00000090077
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIME1
|
27 |
87 |
9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108807
AA Change: S275P
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582
AA Change: S275P
| 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: ENSMUST00000116366
AA Change: S275P
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582
AA Change: S275P
| 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: ENSMUST00000126611
|
| SMART Domains |
Protein: ENSMUSP00000119181
Gene: ENSMUSG00000090077
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIME1
|
4 |
246 |
9.6e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156258
|
| SMART Domains |
Protein: ENSMUSP00000122714
Gene: ENSMUSG00000027582
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
1 |
44 |
1.18e-5 |
SMART |
|
low complexity region
|
66 |
79 |
N/A |
INTRINSIC |
|
coiled coil region
|
117 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140943
|
| SMART Domains |
Protein: ENSMUSP00000117558
Gene: ENSMUSG00000090077
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIME1
|
24 |
189 |
5.4e-74 |
PFAM |
|
| Meta Mutation Damage Score |
0.0708 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
| Cpped1 |
G |
T |
16: 11,646,392 (GRCm39) |
P144Q |
probably damaging |
Het |
| Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
| Hsd17b3 |
G |
T |
13: 64,236,865 (GRCm39) |
H26Q |
probably benign |
Het |
| Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,478,399 (GRCm39) |
M53L |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
| Ngef |
T |
C |
1: 87,468,418 (GRCm39) |
T114A |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
| Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
| Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
| Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
| Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,480,438 (GRCm39) |
S23R |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,533,793 (GRCm39) |
|
probably null |
Het |
| Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,502,764 (GRCm39) |
N106S |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
| Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
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 |
|
IGL02507:Zgpat
|
APN |
2 |
181,008,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:Zgpat
|
APN |
2 |
181,007,973 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2015-04-16 |
Incidental Mutation