Incidental Mutation 'R1275:Zfp930'
ID |
150866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp930
|
Ensembl Gene |
ENSMUSG00000059897 |
Gene Name |
zinc finger protein 930 |
Synonyms |
zinc finger protein, D10627 |
MMRRC Submission |
039341-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1275 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
69661690-69683188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69680631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 108
(K108E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105845
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110216]
[ENSMUST00000212312]
[ENSMUST00000212681]
|
AlphaFold |
A0A1D5RM15 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110216
AA Change: K108E
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105845 Gene: ENSMUSG00000059897 AA Change: K108E
Domain | Start | End | E-Value | Type |
KRAB
|
3 |
62 |
1.39e-13 |
SMART |
ZnF_C2H2
|
73 |
95 |
1.07e0 |
SMART |
ZnF_C2H2
|
101 |
123 |
6.88e-4 |
SMART |
ZnF_C2H2
|
129 |
151 |
1.98e-4 |
SMART |
ZnF_C2H2
|
157 |
179 |
2.63e0 |
SMART |
ZnF_C2H2
|
185 |
207 |
1.3e-4 |
SMART |
ZnF_C2H2
|
213 |
235 |
1.22e-4 |
SMART |
ZnF_C2H2
|
241 |
263 |
7.49e-5 |
SMART |
ZnF_C2H2
|
269 |
291 |
1.13e-4 |
SMART |
ZnF_C2H2
|
297 |
319 |
1.84e-4 |
SMART |
ZnF_C2H2
|
325 |
347 |
2.27e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
1.22e-4 |
SMART |
ZnF_C2H2
|
381 |
403 |
5.29e-5 |
SMART |
ZnF_C2H2
|
409 |
431 |
1.72e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212090
|
Predicted Effect |
silent
Transcript: ENSMUST00000212312
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212681
AA Change: K109E
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdhr18 |
T |
C |
14: 13,896,949 (GRCm38) |
Y142C |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,339,483 (GRCm39) |
V793I |
probably benign |
Het |
Coro1a |
C |
T |
7: 126,299,755 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Efcab14 |
T |
G |
4: 115,613,670 (GRCm39) |
L206R |
probably damaging |
Het |
Ehmt1 |
A |
G |
2: 24,777,007 (GRCm39) |
|
probably null |
Het |
Fosl2 |
C |
T |
5: 32,307,798 (GRCm39) |
R130W |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,314 (GRCm39) |
C233R |
probably damaging |
Het |
Ino80 |
T |
C |
2: 119,257,536 (GRCm39) |
T765A |
probably benign |
Het |
Mindy3 |
A |
T |
2: 12,400,984 (GRCm39) |
|
probably null |
Het |
Myo15b |
CGGAGGAGGAGGAGGAGGAG |
CGGAGGAGGAGGAGGAG |
11: 115,774,318 (GRCm39) |
|
probably benign |
Het |
Nup50l |
T |
C |
6: 96,142,099 (GRCm39) |
E315G |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,006,220 (GRCm39) |
M16K |
probably benign |
Het |
Rassf7 |
T |
A |
7: 140,797,060 (GRCm39) |
L91Q |
probably damaging |
Het |
Shld1 |
T |
C |
2: 132,534,015 (GRCm39) |
S48P |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,235,366 (GRCm39) |
K3318R |
probably damaging |
Het |
Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zfp930 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Zfp930
|
APN |
8 |
69,680,634 (GRCm39) |
missense |
probably damaging |
1.00 |
Bodyguard
|
UTSW |
8 |
69,681,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Zfp930
|
UTSW |
8 |
69,680,948 (GRCm39) |
nonsense |
probably null |
|
R1322:Zfp930
|
UTSW |
8 |
69,680,820 (GRCm39) |
missense |
probably benign |
0.02 |
R1802:Zfp930
|
UTSW |
8 |
69,679,046 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1917:Zfp930
|
UTSW |
8 |
69,681,357 (GRCm39) |
missense |
probably benign |
0.02 |
R1918:Zfp930
|
UTSW |
8 |
69,681,357 (GRCm39) |
missense |
probably benign |
0.02 |
R1981:Zfp930
|
UTSW |
8 |
69,680,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R4492:Zfp930
|
UTSW |
8 |
69,680,898 (GRCm39) |
nonsense |
probably null |
|
R4530:Zfp930
|
UTSW |
8 |
69,681,483 (GRCm39) |
nonsense |
probably null |
|
R4769:Zfp930
|
UTSW |
8 |
69,679,344 (GRCm39) |
missense |
probably benign |
0.09 |
R4906:Zfp930
|
UTSW |
8 |
69,681,597 (GRCm39) |
missense |
probably benign |
0.11 |
R5314:Zfp930
|
UTSW |
8 |
69,679,373 (GRCm39) |
missense |
probably benign |
0.27 |
R5708:Zfp930
|
UTSW |
8 |
69,679,113 (GRCm39) |
missense |
probably benign |
0.08 |
R6004:Zfp930
|
UTSW |
8 |
69,680,556 (GRCm39) |
missense |
probably benign |
|
R6385:Zfp930
|
UTSW |
8 |
69,681,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R7095:Zfp930
|
UTSW |
8 |
69,681,193 (GRCm39) |
missense |
probably benign |
|
R7619:Zfp930
|
UTSW |
8 |
69,661,810 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
R7641:Zfp930
|
UTSW |
8 |
69,681,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7674:Zfp930
|
UTSW |
8 |
69,681,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R8300:Zfp930
|
UTSW |
8 |
69,680,998 (GRCm39) |
missense |
probably benign |
0.00 |
R8905:Zfp930
|
UTSW |
8 |
69,681,351 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8960:Zfp930
|
UTSW |
8 |
69,680,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2014-01-29 |