Incidental Mutation 'R2445:Zgpat'
| ID | 250546 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Zgpat
|
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| Ensembl Gene |
ENSMUSG00000027582 |
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| Gene Name | zinc finger, CCCH-type with G patch domain |
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| Synonyms | |
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| Accession Numbers | |
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | R2445 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 2 |
|---|
| Chromosomal Location | 181364928-181383628 bp(+) (GRCm38) |
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| Type of Mutation | nonsense |
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| DNA Base Change (assembly) |
C to A
at 181366160 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Cysteine to Stop codon
at position 163
(C163*)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000112067
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029105]
[ENSMUST00000108807]
[ENSMUST00000108808]
[ENSMUST00000116366]
[ENSMUST00000127988]
[ENSMUST00000170190]
[ENSMUST00000183499]
[ENSMUST00000185118]
|
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| Predicted Effect |
probably null
Transcript: ENSMUST00000029105
AA Change: C163*
|
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| SMART Domains |
Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582
AA Change: C163*
| 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
|
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| Predicted Effect |
probably null
Transcript: ENSMUST00000108807
AA Change: C163*
|
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| SMART Domains |
Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582
AA Change: C163*
| 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 null
Transcript: ENSMUST00000116366
AA Change: C163*
|
|---|
| SMART Domains |
Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582
AA Change: C163*
| 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
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131284
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139368
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145358
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152580
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000170190
|
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| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000183499
|
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| SMART Domains |
Protein: ENSMUSP00000138941
Gene: ENSMUSG00000038671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
4 |
61 |
4.8e-8 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184859
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000185118
|
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| 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 |
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
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| Validation Efficiency |
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,164,546 |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,164,547 |
E685V |
possibly damaging |
Het |
| 4930562C15Rik |
T |
A |
16: 4,864,397 |
|
probably null |
Het |
| Akr1b3 |
G |
T |
6: 34,310,934 |
D163E |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 24,857,036 |
D147G |
probably benign |
Het |
| F5 |
T |
C |
1: 164,190,226 |
F624S |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,750,627 |
T152A |
probably benign |
Het |
| Ifna13 |
A |
T |
4: 88,643,896 |
W164R |
probably damaging |
Het |
| Lsg1 |
C |
A |
16: 30,564,695 |
R569L |
probably benign |
Het |
| Mmp27 |
T |
C |
9: 7,581,181 |
S456P |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,300,668 |
V449A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,131,646 |
R758G |
possibly damaging |
Het |
| Olfr1130 |
T |
C |
2: 87,607,958 |
I190T |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,387,632 |
P1052Q |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,205,206 |
H1567R |
probably damaging |
Het |
| Slc30a7 |
A |
T |
3: 115,978,653 |
I280K |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,666,752 |
C15* |
probably null |
Het |
| Tnrc18 |
T |
A |
5: 142,772,115 |
I884F |
unknown |
Het |
| Trav6d-3 |
G |
A |
14: 52,726,828 |
A83T |
probably damaging |
Het |
|
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| Other mutations in Zgpat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Zgpat
|
APN |
2 |
181378889 |
missense |
probably benign |
0.02 |
|
IGL02221:Zgpat
|
APN |
2 |
181378858 |
missense |
probably benign |
0.41 |
|
IGL02507:Zgpat
|
APN |
2 |
181366236 |
missense |
probably damaging |
1.00 |
|
IGL03124:Zgpat
|
APN |
2 |
181366180 |
missense |
probably benign |
0.05 |
|
R0559:Zgpat
|
UTSW |
2 |
181380192 |
splice site |
probably benign |
|
|
R1451:Zgpat
|
UTSW |
2 |
181380191 |
splice site |
probably benign |
|
|
R1541:Zgpat
|
UTSW |
2 |
181378865 |
missense |
probably benign |
0.01 |
|
R1758:Zgpat
|
UTSW |
2 |
181378840 |
missense |
probably damaging |
1.00 |
|
R3038:Zgpat
|
UTSW |
2 |
181366018 |
unclassified |
probably benign |
|
|
R3700:Zgpat
|
UTSW |
2 |
181365646 |
unclassified |
probably benign |
|
|
R4888:Zgpat
|
UTSW |
2 |
181378858 |
missense |
probably benign |
0.41 |
|
R5594:Zgpat
|
UTSW |
2 |
181365627 |
unclassified |
probably benign |
|
|
R6890:Zgpat
|
UTSW |
2 |
181378511 |
missense |
probably damaging |
0.98 |
|
R7023:Zgpat
|
UTSW |
2 |
181366018 |
unclassified |
probably benign |
|
|
R7350:Zgpat
|
UTSW |
2 |
181380435 |
missense |
|
|
|
R7396:Zgpat
|
UTSW |
2 |
181366089 |
missense |
probably benign |
0.00 |
|
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| Predicted Primers |
PCR Primer
(F):5'- TTTCCAGAAGGCCATTGCG -3'
(R):5'- AAACTAGTTGTGGCGACAGG -3'
Sequencing Primer
(F):5'- CCTGCAATGACTCGGAGAC -3'
(R):5'- GACAGGCCACAGCGGTG -3'
|
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| Posted On | 2014-11-12 |
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