Incidental Mutation 'R4530:Zfp930'
| ID |
333081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp930
|
| Ensembl Gene |
ENSMUSG00000059897 |
| Gene Name |
zinc finger protein 930 |
| Synonyms |
zinc finger protein, D10627 |
| MMRRC Submission |
041770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4530 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
69661690-69683188 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 69681483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 393
(Q393*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110216]
[ENSMUST00000212312]
[ENSMUST00000212681]
|
| AlphaFold |
A0A1D5RM15 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000110216
AA Change: Q392*
|
| SMART Domains |
Protein: ENSMUSP00000105845
Gene: ENSMUSG00000059897
AA Change: Q392*
| 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 |
probably benign
Transcript: ENSMUST00000212312
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212681
AA Change: Q393*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
93% (37/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
C |
14: 56,016,485 (GRCm39) |
D322G |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,850,802 (GRCm39) |
M144T |
possibly damaging |
Het |
| Arid4b |
C |
A |
13: 14,301,040 (GRCm39) |
T41N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,407,146 (GRCm39) |
Y580N |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,252 (GRCm39) |
N227D |
possibly damaging |
Het |
| Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
| Clec2h |
A |
G |
6: 128,639,457 (GRCm39) |
D18G |
possibly damaging |
Het |
| Clec4e |
T |
C |
6: 123,266,733 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,584,842 (GRCm39) |
I1093T |
probably benign |
Het |
| Dner |
G |
T |
1: 84,560,736 (GRCm39) |
N136K |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,811 (GRCm39) |
S249G |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,330,518 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
G |
3: 40,637,794 (GRCm39) |
C427G |
possibly damaging |
Het |
| Kif21a |
A |
C |
15: 90,852,292 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,634 (GRCm39) |
E348G |
possibly damaging |
Het |
| Or10g6 |
G |
A |
9: 39,934,589 (GRCm39) |
R300K |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,498 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or8g2b |
G |
T |
9: 39,751,379 (GRCm39) |
M216I |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,487,905 (GRCm39) |
D299G |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Prss43 |
A |
T |
9: 110,658,572 (GRCm39) |
M291L |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,186 (GRCm39) |
N338D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Stip1 |
G |
T |
19: 7,013,026 (GRCm39) |
N19K |
probably benign |
Het |
| Tat |
T |
A |
8: 110,722,842 (GRCm39) |
F301L |
probably benign |
Het |
| Tmprss11a |
C |
A |
5: 86,576,540 (GRCm39) |
V104L |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,147 (GRCm39) |
F938I |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,164 (GRCm39) |
|
probably benign |
Het |
| Xndc1 |
C |
A |
7: 101,727,942 (GRCm39) |
N85K |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
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 |
|
|
R1275:Zfp930
|
UTSW |
8 |
69,680,631 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- AGAGAAACCCTACGAATGCAAG -3'
(R):5'- GGGTTTCTCTACAGTAAGTACACCTT -3'
Sequencing Primer
(F):5'- GTGGTAAAGCCTTTTCACAACACAG -3'
(R):5'- GCAAAGGCTTTACCACATTGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation