Incidental Mutation 'R9738:Zfp947'
| ID |
731737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp947
|
| Ensembl Gene |
ENSMUSG00000063383 |
| Gene Name |
zinc finger protein 947 |
| Synonyms |
Gm4769 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R9738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22363336-22385153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22365341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 111
(V111A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080249]
|
| AlphaFold |
Q8BIQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080249
AA Change: V111A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000079137
Gene: ENSMUSG00000063383
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
9.26e-19 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
8.02e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
A |
G |
12: 70,216,039 (GRCm39) |
T199A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,737,121 (GRCm39) |
F2921S |
unknown |
Het |
| Atg12 |
A |
G |
18: 46,874,505 (GRCm39) |
S37P |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,863,329 (GRCm39) |
D413G |
probably damaging |
Het |
| Cdk8 |
A |
G |
5: 146,236,539 (GRCm39) |
N318S |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,590,665 (GRCm39) |
L68* |
probably null |
Het |
| Cntnap2 |
CCACATAAACAACACACA |
CCACA |
6: 45,992,373 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
A |
C |
6: 113,267,401 (GRCm39) |
N194T |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,302 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
C |
8: 70,840,205 (GRCm39) |
N556S |
probably damaging |
Het |
| Gm12888 |
A |
T |
4: 121,175,520 (GRCm39) |
C87* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,019,583 (GRCm39) |
E2118G |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,155,270 (GRCm39) |
N270D |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,671,672 (GRCm39) |
Q77* |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,350,649 (GRCm39) |
W887R |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,527 (GRCm39) |
Y706H |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,222,524 (GRCm39) |
F170I |
probably damaging |
Het |
| Msrb1 |
T |
C |
17: 24,958,535 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,189,759 (GRCm39) |
I1096V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,148,238 (GRCm39) |
H41R |
possibly damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,869 (GRCm39) |
T92A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,526 (GRCm39) |
T603A |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,505,256 (GRCm39) |
H74Q |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,986,380 (GRCm39) |
T243A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,390 (GRCm39) |
E358G |
possibly damaging |
Het |
| Unc5d |
T |
A |
8: 29,214,332 (GRCm39) |
H410L |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,819,672 (GRCm39) |
V378A |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,022,604 (GRCm39) |
S581P |
probably damaging |
Het |
|
| Other mutations in Zfp947 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02092:Zfp947
|
APN |
17 |
22,366,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02592:Zfp947
|
APN |
17 |
22,365,233 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
deformity
|
UTSW |
17 |
22,364,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Gnarled
|
UTSW |
17 |
22,365,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Zfp947
|
UTSW |
17 |
22,365,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1519:Zfp947
|
UTSW |
17 |
22,365,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1521:Zfp947
|
UTSW |
17 |
22,364,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1639:Zfp947
|
UTSW |
17 |
22,365,074 (GRCm39) |
missense |
probably benign |
|
|
R1721:Zfp947
|
UTSW |
17 |
22,365,184 (GRCm39) |
missense |
probably benign |
|
|
R1801:Zfp947
|
UTSW |
17 |
22,365,443 (GRCm39) |
missense |
probably benign |
|
|
R2264:Zfp947
|
UTSW |
17 |
22,364,919 (GRCm39) |
missense |
probably benign |
|
|
R3943:Zfp947
|
UTSW |
17 |
22,364,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4561:Zfp947
|
UTSW |
17 |
22,365,124 (GRCm39) |
nonsense |
probably null |
|
|
R4562:Zfp947
|
UTSW |
17 |
22,365,124 (GRCm39) |
nonsense |
probably null |
|
|
R4943:Zfp947
|
UTSW |
17 |
22,364,813 (GRCm39) |
missense |
probably benign |
|
|
R5688:Zfp947
|
UTSW |
17 |
22,365,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6037:Zfp947
|
UTSW |
17 |
22,366,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6037:Zfp947
|
UTSW |
17 |
22,366,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6414:Zfp947
|
UTSW |
17 |
22,365,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6786:Zfp947
|
UTSW |
17 |
22,364,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6993:Zfp947
|
UTSW |
17 |
22,364,961 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7556:Zfp947
|
UTSW |
17 |
22,364,597 (GRCm39) |
missense |
probably benign |
|
|
R8224:Zfp947
|
UTSW |
17 |
22,364,363 (GRCm39) |
missense |
probably benign |
|
|
R8398:Zfp947
|
UTSW |
17 |
22,365,102 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8670:Zfp947
|
UTSW |
17 |
22,364,687 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8871:Zfp947
|
UTSW |
17 |
22,364,695 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9000:Zfp947
|
UTSW |
17 |
22,365,161 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9099:Zfp947
|
UTSW |
17 |
22,364,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Zfp947
|
UTSW |
17 |
22,364,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Zfp947
|
UTSW |
17 |
22,364,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Zfp947
|
UTSW |
17 |
22,364,384 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9507:Zfp947
|
UTSW |
17 |
22,364,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATGAGGGTTTCTTTAGAGTC -3'
(R):5'- TTTGAGAGTTCCATCCTTGAGAATC -3'
Sequencing Primer
(F):5'- TGAGGGTTTCTTTAGAGTCAAAAAC -3'
(R):5'- TTTTCAGAGAATCATTGCATGTGTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation