Incidental Mutation 'R0559:Zgpat'
| ID |
45782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zgpat
|
| Ensembl Gene |
ENSMUSG00000027582 |
| Gene Name |
zinc finger, CCCH-type with G patch domain |
| Synonyms |
|
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181006724-181022586 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 181021985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029105]
[ENSMUST00000048077]
[ENSMUST00000108804]
[ENSMUST00000108807]
[ENSMUST00000116366]
|
| 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 |
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
|
| 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: 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: 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127559
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTAGAGGGAAATCACTGGACC -3'
(R):5'- TTCTGCCAAGGCAGTTTGGAGC -3'
Sequencing Primer
(F):5'- CCCCCGGAATGTGTTTGAC -3'
(R):5'- GGCCGCTAGAACTCTGTCATC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation