Incidental Mutation 'R3700:Zgpat'
| ID |
334581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zgpat
|
| Ensembl Gene |
ENSMUSG00000027582 |
| Gene Name |
zinc finger, CCCH-type with G patch domain |
| Synonyms |
|
| MMRRC Submission |
040693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3700 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181006724-181022586 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 181007439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029105]
[ENSMUST00000108807]
[ENSMUST00000108808]
[ENSMUST00000116366]
[ENSMUST00000127988]
[ENSMUST00000170190]
[ENSMUST00000183499]
[ENSMUST00000185118]
|
| AlphaFold |
Q8VDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029105
|
| SMART Domains |
Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582
| 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: ENSMUST00000139368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152580
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
A |
18: 65,438,222 (GRCm39) |
T1524I |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,253,237 (GRCm39) |
F221L |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,208,361 (GRCm39) |
S36G |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,890 (GRCm39) |
D411G |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
| Coro6 |
T |
C |
11: 77,358,129 (GRCm39) |
F238S |
probably damaging |
Het |
| Ddah1 |
G |
A |
3: 145,597,250 (GRCm39) |
M162I |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,387,937 (GRCm39) |
I3132T |
possibly damaging |
Het |
| Drgx |
A |
T |
14: 32,350,818 (GRCm39) |
E218V |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Eif3f |
A |
T |
7: 108,539,482 (GRCm39) |
I251F |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,550,673 (GRCm39) |
F11L |
probably benign |
Het |
| Esp1 |
T |
C |
17: 41,041,998 (GRCm39) |
S97P |
unknown |
Het |
| Fbxw10 |
A |
T |
11: 62,759,983 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,440 (GRCm39) |
T85A |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,748,895 (GRCm39) |
K129E |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,865 (GRCm39) |
I64T |
probably damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,500,251 (GRCm39) |
C280S |
probably damaging |
Het |
| Lhx2 |
T |
A |
2: 38,250,111 (GRCm39) |
L269H |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,653,185 (GRCm39) |
|
probably null |
Het |
| Lss |
T |
A |
10: 76,382,026 (GRCm39) |
L484Q |
probably damaging |
Het |
| Mmp14 |
G |
A |
14: 54,669,389 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,400,986 (GRCm39) |
T534A |
unknown |
Het |
| Mysm1 |
T |
C |
4: 94,858,889 (GRCm39) |
K87E |
probably benign |
Het |
| Or6d13 |
T |
A |
6: 116,517,489 (GRCm39) |
V25E |
probably benign |
Het |
| Or6f2 |
C |
G |
7: 139,756,127 (GRCm39) |
F37L |
possibly damaging |
Het |
| Pcolce |
T |
C |
5: 137,607,309 (GRCm39) |
T61A |
probably damaging |
Het |
| Phc3 |
C |
A |
3: 30,968,277 (GRCm39) |
D920Y |
probably damaging |
Het |
| Pi4kb |
T |
C |
3: 94,901,599 (GRCm39) |
I422T |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,693,781 (GRCm39) |
F768Y |
probably damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,889,882 (GRCm39) |
S709P |
possibly damaging |
Het |
| Prdx6 |
T |
C |
1: 161,074,858 (GRCm39) |
D74G |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,008,060 (GRCm39) |
F307L |
possibly damaging |
Het |
| Skic2 |
T |
C |
17: 35,068,879 (GRCm39) |
E40G |
probably benign |
Het |
| Snapin |
G |
A |
3: 90,397,499 (GRCm39) |
R91* |
probably null |
Het |
| Sort1 |
T |
A |
3: 108,263,955 (GRCm39) |
L838* |
probably null |
Het |
| Sstr4 |
A |
G |
2: 148,238,273 (GRCm39) |
I295V |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,222,462 (GRCm39) |
I201F |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,752,474 (GRCm39) |
T322A |
probably benign |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Tlr9 |
G |
A |
9: 106,101,278 (GRCm39) |
V190M |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,858,324 (GRCm39) |
L755P |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,811,976 (GRCm39) |
T60M |
possibly damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,287 (GRCm39) |
N293S |
probably benign |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,790,142 (GRCm39) |
W288* |
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,421 (GRCm39) |
S510G |
possibly damaging |
Het |
| Zzef1 |
G |
T |
11: 72,777,598 (GRCm39) |
G1810C |
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAGATCTTGGAGGAGG -3'
(R):5'- TCAATCAGCTCCTTTAGATCGC -3'
Sequencing Primer
(F):5'- TCACAGTGCCTGACGGAAC -3'
(R):5'- TTAGATCGCCCTGCAGCTGAC -3'
|
| Posted On |
2015-09-14 |
Incidental Mutation