Incidental Mutation 'IGL01537:Zgpat'
| ID |
90021 |
| 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 # |
IGL01537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181006724-181022586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181020682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 285
(D285G)
|
| 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: D285G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582
AA Change: D285G
| 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: D285G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582
AA Change: D285G
| 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: D285G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582
AA Change: D285G
| 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: ENSMUST00000126862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131284
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1l |
T |
C |
8: 110,459,312 (GRCm39) |
R317G |
probably benign |
Het |
| B130006D01Rik |
T |
A |
11: 95,616,992 (GRCm39) |
|
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,074,379 (GRCm39) |
T581A |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,548,540 (GRCm39) |
I1179N |
probably damaging |
Het |
| Cacnb3 |
A |
G |
15: 98,541,301 (GRCm39) |
D434G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,847,341 (GRCm39) |
T423A |
possibly damaging |
Het |
| Chkb |
C |
T |
15: 89,311,986 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,071,913 (GRCm39) |
Y623H |
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,408,559 (GRCm39) |
R918C |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,406,906 (GRCm39) |
M200L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,838,506 (GRCm39) |
H3097L |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,401 (GRCm39) |
L4217H |
probably damaging |
Het |
| Fam107b |
T |
A |
2: 3,779,565 (GRCm39) |
L80Q |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,045,595 (GRCm39) |
C55S |
probably damaging |
Het |
| Igkv4-71 |
C |
A |
6: 69,220,264 (GRCm39) |
G78* |
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,237,452 (GRCm39) |
S910P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,407,718 (GRCm39) |
D41G |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,933,648 (GRCm39) |
I358N |
possibly damaging |
Het |
| Marchf5 |
C |
T |
19: 37,188,067 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,895 (GRCm39) |
T455A |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,815,510 (GRCm39) |
V612A |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,380,023 (GRCm39) |
D923G |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,918 (GRCm39) |
F7L |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,355 (GRCm39) |
N313S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5 |
T |
A |
9: 39,861,921 (GRCm39) |
T49S |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,751 (GRCm39) |
N67D |
probably damaging |
Het |
| Or4c107 |
T |
C |
2: 88,788,885 (GRCm39) |
V25A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,589,647 (GRCm39) |
V649A |
unknown |
Het |
| Pom121 |
A |
G |
5: 135,421,389 (GRCm39) |
|
probably benign |
Het |
| Ptcd2 |
A |
T |
13: 99,466,521 (GRCm39) |
I224N |
possibly damaging |
Het |
| Rsrp1 |
C |
T |
4: 134,651,290 (GRCm39) |
P18L |
unknown |
Het |
| Sash1 |
A |
T |
10: 8,605,422 (GRCm39) |
N989K |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,546,219 (GRCm39) |
H927Q |
probably benign |
Het |
| Selenoi |
G |
T |
5: 30,461,222 (GRCm39) |
V128F |
probably damaging |
Het |
| Slc25a42 |
T |
C |
8: 70,642,092 (GRCm39) |
I117V |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,195,558 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
A |
T |
2: 139,431,615 (GRCm39) |
Y379F |
possibly damaging |
Het |
| Tent4a |
A |
T |
13: 69,648,678 (GRCm39) |
S693T |
probably benign |
Het |
| Tinag |
C |
T |
9: 76,952,885 (GRCm39) |
R33K |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 20,968,061 (GRCm39) |
D1092G |
probably benign |
Het |
| Xntrpc |
A |
G |
7: 101,722,401 (GRCm39) |
E22G |
probably damaging |
Het |
| Zbtb7b |
A |
G |
3: 89,287,278 (GRCm39) |
M397T |
possibly damaging |
Het |
|
| Other mutations in Zgpat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation