Incidental Mutation 'R6890:Zgpat'
ID |
537145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zgpat
|
Ensembl Gene |
ENSMUSG00000027582 |
Gene Name |
zinc finger, CCCH-type with G patch domain |
Synonyms |
|
MMRRC Submission |
044984-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6890 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181006724-181022586 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 181020304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 237
(I237N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029105]
[ENSMUST00000048077]
[ENSMUST00000108804]
[ENSMUST00000108807]
[ENSMUST00000116366]
|
AlphaFold |
Q8VDM1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029105
AA Change: I237N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029105 Gene: ENSMUSG00000027582 AA Change: I237N
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 damaging
Transcript: ENSMUST00000108807
AA Change: I237N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104435 Gene: ENSMUSG00000027582 AA Change: I237N
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 damaging
Transcript: ENSMUST00000116366
AA Change: I237N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112067 Gene: ENSMUSG00000027582 AA Change: I237N
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 |
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 |
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 |
|
Meta Mutation Damage Score |
0.9504 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
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 |
|
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 |
|
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'- GCCATGTCTAAGCCTCTGTC -3'
(R):5'- CCACATCTAGGGTGACAGAGAC -3'
Sequencing Primer
(F):5'- ATGTCTAAGCCTCTGTCTTCTGTG -3'
(R):5'- CAGCAGTTTTTACAGGTTAGGCAAC -3'
|
Posted On |
2018-10-18 |