Incidental Mutation 'R0052:Zfp14'
| ID |
15332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp14
|
| Ensembl Gene |
ENSMUSG00000053985 |
| Gene Name |
zinc finger protein 14 |
| Synonyms |
4732429I09Rik, Zfp-14, Krox-9 |
| MMRRC Submission |
038346-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0052 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29735784-29750805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29737753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 411
(Q411K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077787]
[ENSMUST00000207072]
[ENSMUST00000207873]
|
| AlphaFold |
P10755 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077787
AA Change: Q411K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076960
Gene: ENSMUSG00000053985
AA Change: Q411K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
69 |
2.39e-21 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
196 |
218 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
420 |
442 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
448 |
470 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
476 |
498 |
5.9e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207072
AA Change: Q411K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207873
AA Change: Q411K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1966 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
| Validation Efficiency |
90% (62/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
| Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
| Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
| Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
| St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
| Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
| Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
| Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
| Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
| Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Zfp14
|
APN |
7 |
29,738,312 (GRCm39) |
nonsense |
probably null |
|
|
IGL01018:Zfp14
|
APN |
7 |
29,737,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01060:Zfp14
|
APN |
7 |
29,737,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03223:Zfp14
|
APN |
7 |
29,737,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Zfp14
|
UTSW |
7 |
29,737,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1860:Zfp14
|
UTSW |
7 |
29,738,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2852:Zfp14
|
UTSW |
7 |
29,738,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2887:Zfp14
|
UTSW |
7 |
29,738,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4585:Zfp14
|
UTSW |
7 |
29,738,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4586:Zfp14
|
UTSW |
7 |
29,738,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4625:Zfp14
|
UTSW |
7 |
29,738,020 (GRCm39) |
nonsense |
probably null |
|
|
R4988:Zfp14
|
UTSW |
7 |
29,737,482 (GRCm39) |
missense |
probably benign |
|
|
R5791:Zfp14
|
UTSW |
7 |
29,737,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6709:Zfp14
|
UTSW |
7 |
29,737,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:Zfp14
|
UTSW |
7 |
29,738,368 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8375:Zfp14
|
UTSW |
7 |
29,738,579 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8784:Zfp14
|
UTSW |
7 |
29,742,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Zfp14
|
UTSW |
7 |
29,737,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Zfp14
|
UTSW |
7 |
29,738,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Zfp14
|
UTSW |
7 |
29,738,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1186:Zfp14
|
UTSW |
7 |
29,738,577 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-17 |
Incidental Mutation