Incidental Mutation 'IGL03223:Zfp14'
| ID |
413717 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp14
|
| Ensembl Gene |
ENSMUSG00000053985 |
| Gene Name |
zinc finger protein 14 |
| Synonyms |
4732429I09Rik, Zfp-14, Krox-9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29735784-29750805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29737858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 376
(Y376H)
|
| 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: Y376H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076960
Gene: ENSMUSG00000053985
AA Change: Y376H
| 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: Y376H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207873
AA Change: Y376H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3b1 |
T |
A |
19: 3,965,329 (GRCm39) |
H394L |
probably damaging |
Het |
| B430306N03Rik |
G |
A |
17: 48,623,896 (GRCm39) |
V66I |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,931,877 (GRCm39) |
N175S |
probably damaging |
Het |
| Dock4 |
C |
A |
12: 40,867,593 (GRCm39) |
Q1390K |
probably damaging |
Het |
| Eea1 |
A |
C |
10: 95,875,473 (GRCm39) |
E1248A |
probably damaging |
Het |
| Farp2 |
T |
A |
1: 93,545,324 (GRCm39) |
Y827* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,134,556 (GRCm39) |
Y1510C |
probably damaging |
Het |
| Igfbp7 |
A |
C |
5: 77,497,318 (GRCm39) |
|
probably benign |
Het |
| Il1rapl1 |
A |
C |
X: 86,344,341 (GRCm39) |
C185G |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,784,680 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
| Lrrc4 |
A |
T |
6: 28,831,469 (GRCm39) |
C49S |
probably damaging |
Het |
| Lrrc49 |
T |
A |
9: 60,595,128 (GRCm39) |
K5N |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,241,068 (GRCm39) |
I815T |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,801,297 (GRCm39) |
T948A |
possibly damaging |
Het |
| Nhs |
T |
A |
X: 160,624,902 (GRCm39) |
I837F |
probably damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,645 (GRCm39) |
V218L |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,268 (GRCm39) |
V105A |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,438 (GRCm39) |
Q563L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,255,170 (GRCm39) |
M809T |
possibly damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,038,648 (GRCm39) |
I311N |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,591,322 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,813 (GRCm39) |
T431M |
probably damaging |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,653 (GRCm39) |
G189D |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,248 (GRCm39) |
C108R |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,216,735 (GRCm39) |
E35G |
possibly damaging |
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 |
|
R0052:Zfp14
|
UTSW |
7 |
29,737,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2016-08-02 |
Incidental Mutation