Incidental Mutation 'R2283:Zfp931'
ID |
243204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp931
|
Ensembl Gene |
ENSMUSG00000078861 |
Gene Name |
zinc finger protein 931 |
Synonyms |
2810021G02Rik |
MMRRC Submission |
040282-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R2283 (G1)
|
Quality Score |
165 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
177709488-177720269 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 177711714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 11
(V11A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108923]
[ENSMUST00000108924]
[ENSMUST00000131702]
|
AlphaFold |
A2AHM2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108923
AA Change: V11A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104551 Gene: ENSMUSG00000078861 AA Change: V11A
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
2.27e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108924
AA Change: V11A
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104552 Gene: ENSMUSG00000078861 AA Change: V11A
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
3.04e-14 |
SMART |
ZnF_C2H2
|
78 |
97 |
2.63e2 |
SMART |
ZnF_C2H2
|
103 |
125 |
1.2e-3 |
SMART |
ZnF_C2H2
|
131 |
153 |
8.02e-5 |
SMART |
ZnF_C2H2
|
159 |
181 |
2.12e-4 |
SMART |
ZnF_C2H2
|
187 |
209 |
1.4e-4 |
SMART |
ZnF_C2H2
|
215 |
237 |
2.99e-4 |
SMART |
ZnF_C2H2
|
243 |
265 |
4.87e-4 |
SMART |
ZnF_C2H2
|
271 |
293 |
7.49e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123265
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131702
AA Change: V11A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,253,635 (GRCm39) |
E1235G |
probably damaging |
Het |
Anapc1 |
A |
T |
2: 128,484,468 (GRCm39) |
H1165Q |
probably benign |
Het |
Bhmt |
G |
A |
13: 93,756,809 (GRCm39) |
P273L |
probably damaging |
Het |
Clec18a |
A |
G |
8: 111,802,140 (GRCm39) |
V283A |
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,208,731 (GRCm39) |
P825L |
probably benign |
Het |
Fas |
G |
A |
19: 34,284,649 (GRCm39) |
G52D |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,802,164 (GRCm39) |
I1209T |
probably benign |
Het |
Gpt2 |
T |
A |
8: 86,242,818 (GRCm39) |
D283E |
probably benign |
Het |
Hrh1 |
C |
T |
6: 114,457,400 (GRCm39) |
T227I |
probably benign |
Het |
Kif26a |
T |
C |
12: 112,143,787 (GRCm39) |
F1347S |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,722,822 (GRCm39) |
Y392C |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,690,525 (GRCm39) |
K261E |
probably benign |
Het |
Nav2 |
G |
T |
7: 49,141,152 (GRCm39) |
R899L |
probably damaging |
Het |
Nuggc |
T |
C |
14: 65,876,061 (GRCm39) |
V574A |
possibly damaging |
Het |
Or2b6 |
G |
A |
13: 21,823,190 (GRCm39) |
R168C |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,158,584 (GRCm39) |
E556G |
probably damaging |
Het |
Ppa1 |
G |
A |
10: 61,496,788 (GRCm39) |
W92* |
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sp3 |
A |
C |
2: 72,801,521 (GRCm39) |
I164S |
possibly damaging |
Het |
St8sia3 |
G |
T |
18: 64,404,801 (GRCm39) |
E359D |
probably damaging |
Het |
Usp17lb |
A |
G |
7: 104,489,859 (GRCm39) |
I355T |
possibly damaging |
Het |
Zfp608 |
T |
A |
18: 55,121,446 (GRCm39) |
K47I |
probably damaging |
Het |
|
Other mutations in Zfp931 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02980:Zfp931
|
APN |
2 |
177,711,409 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1391:Zfp931
|
UTSW |
2 |
177,709,984 (GRCm39) |
missense |
probably benign |
0.01 |
R1907:Zfp931
|
UTSW |
2 |
177,711,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Zfp931
|
UTSW |
2 |
177,711,651 (GRCm39) |
missense |
probably null |
1.00 |
R4038:Zfp931
|
UTSW |
2 |
177,709,777 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4039:Zfp931
|
UTSW |
2 |
177,709,777 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4867:Zfp931
|
UTSW |
2 |
177,709,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R4893:Zfp931
|
UTSW |
2 |
177,709,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R5593:Zfp931
|
UTSW |
2 |
177,709,595 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7295:Zfp931
|
UTSW |
2 |
177,709,824 (GRCm39) |
nonsense |
probably null |
|
R8050:Zfp931
|
UTSW |
2 |
177,709,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Zfp931
|
UTSW |
2 |
177,709,709 (GRCm39) |
missense |
probably benign |
0.00 |
R8432:Zfp931
|
UTSW |
2 |
177,711,346 (GRCm39) |
makesense |
probably null |
|
R8806:Zfp931
|
UTSW |
2 |
177,709,589 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8866:Zfp931
|
UTSW |
2 |
177,710,178 (GRCm39) |
nonsense |
probably null |
|
R8987:Zfp931
|
UTSW |
2 |
177,709,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Zfp931
|
UTSW |
2 |
177,709,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Zfp931
|
UTSW |
2 |
177,709,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9538:Zfp931
|
UTSW |
2 |
177,709,605 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCTTCCCAAATGTAACCTAAACCC -3'
(R):5'- GTTGTCCAACTGTGAAAGACTG -3'
Sequencing Primer
(F):5'- CCCAGTACCAGAGAAAGTATGTTAC -3'
(R):5'- CTGGATAAAAAGTACTATGTGGGTG -3'
|
Posted On |
2014-10-16 |