Incidental Mutation 'R0035:Zfp982'
ID |
18607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp982
|
Ensembl Gene |
ENSMUSG00000078496 |
Gene Name |
zinc finger protein 982 |
Synonyms |
Gm13152 |
MMRRC Submission |
038329-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R0035 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
147576874-147597943 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 147597149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 169
(K169Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063704]
[ENSMUST00000105721]
|
AlphaFold |
A2A8Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063704
AA Change: K169Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000068021 Gene: ENSMUSG00000078496 AA Change: K169Q
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
6.26e-16 |
SMART |
ZnF_C2H2
|
102 |
124 |
1.68e1 |
SMART |
ZnF_C2H2
|
130 |
152 |
1.82e-3 |
SMART |
ZnF_C2H2
|
158 |
180 |
7.55e-1 |
SMART |
ZnF_C2H2
|
186 |
208 |
8.47e-4 |
SMART |
ZnF_C2H2
|
214 |
236 |
1.28e-3 |
SMART |
ZnF_C2H2
|
242 |
264 |
9.73e-4 |
SMART |
ZnF_C2H2
|
270 |
292 |
4.94e-5 |
SMART |
ZnF_C2H2
|
298 |
320 |
5.29e-5 |
SMART |
ZnF_C2H2
|
326 |
348 |
2.43e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105721
AA Change: K169Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000101346 Gene: ENSMUSG00000078496 AA Change: K169Q
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
6.26e-16 |
SMART |
ZnF_C2H2
|
102 |
124 |
1.68e1 |
SMART |
ZnF_C2H2
|
130 |
152 |
1.82e-3 |
SMART |
ZnF_C2H2
|
158 |
180 |
7.55e-1 |
SMART |
ZnF_C2H2
|
186 |
208 |
8.47e-4 |
SMART |
ZnF_C2H2
|
214 |
236 |
1.28e-3 |
SMART |
ZnF_C2H2
|
242 |
264 |
9.73e-4 |
SMART |
ZnF_C2H2
|
270 |
292 |
4.94e-5 |
SMART |
ZnF_C2H2
|
298 |
320 |
5.29e-5 |
SMART |
ZnF_C2H2
|
326 |
348 |
2.43e-4 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
Validation Efficiency |
94% (51/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
|
Other mutations in Zfp982 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Zfp982
|
APN |
4 |
147,596,826 (GRCm39) |
missense |
probably benign |
|
IGL02989:Zfp982
|
APN |
4 |
147,597,052 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0123:Zfp982
|
UTSW |
4 |
147,597,093 (GRCm39) |
missense |
probably benign |
0.04 |
R1502:Zfp982
|
UTSW |
4 |
147,597,126 (GRCm39) |
missense |
probably benign |
0.00 |
R1982:Zfp982
|
UTSW |
4 |
147,597,049 (GRCm39) |
nonsense |
probably null |
|
R4181:Zfp982
|
UTSW |
4 |
147,597,150 (GRCm39) |
missense |
probably benign |
0.00 |
R4182:Zfp982
|
UTSW |
4 |
147,597,150 (GRCm39) |
missense |
probably benign |
0.00 |
R4183:Zfp982
|
UTSW |
4 |
147,597,150 (GRCm39) |
missense |
probably benign |
0.00 |
R4184:Zfp982
|
UTSW |
4 |
147,597,150 (GRCm39) |
missense |
probably benign |
0.00 |
R4427:Zfp982
|
UTSW |
4 |
147,597,080 (GRCm39) |
nonsense |
probably null |
|
R4814:Zfp982
|
UTSW |
4 |
147,597,090 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5697:Zfp982
|
UTSW |
4 |
147,597,046 (GRCm39) |
missense |
probably benign |
0.02 |
R5777:Zfp982
|
UTSW |
4 |
147,595,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7233:Zfp982
|
UTSW |
4 |
147,597,718 (GRCm39) |
missense |
probably benign |
0.00 |
R8875:Zfp982
|
UTSW |
4 |
147,595,320 (GRCm39) |
missense |
probably benign |
0.43 |
|
Posted On |
2013-03-25 |