Incidental Mutation 'R3038:Zgpat'
| ID |
264874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zgpat
|
| Ensembl Gene |
ENSMUSG00000027582 |
| Gene Name |
zinc finger, CCCH-type with G patch domain |
| Synonyms |
|
| MMRRC Submission |
040554-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3038 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181006724-181022586 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TGGAGGAGGAGGAGGAGGA to TGGAGGAGGAGGAGGA
at 181007811 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: ENSMUST00000131284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145358
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bspry |
A |
G |
4: 62,415,220 (GRCm39) |
I468V |
probably benign |
Het |
| Cavin2 |
T |
A |
1: 51,340,416 (GRCm39) |
N364K |
possibly damaging |
Het |
| Ces1f |
T |
A |
8: 93,983,226 (GRCm39) |
N506I |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,369,436 (GRCm39) |
Q4353L |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,124,617 (GRCm39) |
T36A |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,309,321 (GRCm39) |
T4038A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,297,790 (GRCm39) |
I1083V |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,744 (GRCm39) |
Q312* |
probably null |
Het |
| Pcdha1 |
T |
A |
18: 37,064,064 (GRCm39) |
F243I |
probably damaging |
Het |
| Ppp1r18 |
T |
C |
17: 36,179,274 (GRCm39) |
L383P |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,744,792 (GRCm39) |
K207E |
probably damaging |
Het |
| Tnfrsf19 |
A |
G |
14: 61,209,512 (GRCm39) |
S253P |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,722,273 (GRCm39) |
Y624* |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,199 (GRCm39) |
C140Y |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,241,637 (GRCm39) |
V424A |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGCTGCTGTCTACAGTG -3'
(R):5'- GAGGGTTTTACCTGCAGTTCTCC -3'
Sequencing Primer
(F):5'- TGCTGTCTACAGTGGACCAG -3'
(R):5'- ACAGGGCTTCAGGGACTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation