Incidental Mutation 'R1190:Zfp747'
| ID |
100735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp747
|
| Ensembl Gene |
ENSMUSG00000054381 |
| Gene Name |
zinc finger protein 747 |
| Synonyms |
6430604K15Rik |
| MMRRC Submission |
039262-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R1190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126971709-126975222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126973726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 148
(A148V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067425]
[ENSMUST00000205832]
|
| AlphaFold |
Q8BHM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067425
AA Change: A148V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070685
Gene: ENSMUSG00000054381
AA Change: A148V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
22 |
82 |
3.64e-26 |
SMART |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
152 |
174 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
180 |
202 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
208 |
230 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
236 |
258 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
292 |
314 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
320 |
342 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
348 |
371 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
377 |
399 |
3.69e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206942
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
T |
C |
14: 33,791,207 (GRCm39) |
F367L |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,933,001 (GRCm39) |
R3586W |
probably damaging |
Het |
| Dpysl2 |
A |
G |
14: 67,061,850 (GRCm39) |
V252A |
probably benign |
Het |
| Dus2 |
T |
C |
8: 106,771,497 (GRCm39) |
S208P |
possibly damaging |
Het |
| Elk3 |
T |
C |
10: 93,101,058 (GRCm39) |
N231S |
probably benign |
Het |
| Ephx1 |
A |
T |
1: 180,821,494 (GRCm39) |
M280K |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,959,373 (GRCm39) |
M138T |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,666,659 (GRCm39) |
Y593N |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lep |
G |
T |
6: 29,071,173 (GRCm39) |
E166* |
probably null |
Het |
| Limch1 |
A |
G |
5: 67,126,540 (GRCm39) |
D56G |
probably damaging |
Het |
| Or4d10c |
G |
T |
19: 12,066,051 (GRCm39) |
T35K |
possibly damaging |
Het |
| Pkn2 |
A |
T |
3: 142,517,286 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,228,071 (GRCm39) |
Y512H |
probably damaging |
Het |
| Tekt1 |
A |
T |
11: 72,246,039 (GRCm39) |
I161N |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,385,934 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
C |
3: 36,725,497 (GRCm39) |
N160D |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,440,107 (GRCm39) |
S264P |
probably damaging |
Het |
|
| Other mutations in Zfp747 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02964:Zfp747
|
APN |
7 |
126,973,666 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03201:Zfp747
|
APN |
7 |
126,973,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0066:Zfp747
|
UTSW |
7 |
126,973,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1056:Zfp747
|
UTSW |
7 |
126,973,760 (GRCm39) |
missense |
probably benign |
|
|
R1457:Zfp747
|
UTSW |
7 |
126,973,676 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1727:Zfp747
|
UTSW |
7 |
126,973,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2072:Zfp747
|
UTSW |
7 |
126,973,142 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2157:Zfp747
|
UTSW |
7 |
126,974,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3724:Zfp747
|
UTSW |
7 |
126,973,762 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4762:Zfp747
|
UTSW |
7 |
126,973,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4770:Zfp747
|
UTSW |
7 |
126,974,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5135:Zfp747
|
UTSW |
7 |
126,973,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5355:Zfp747
|
UTSW |
7 |
126,973,769 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6232:Zfp747
|
UTSW |
7 |
126,973,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Zfp747
|
UTSW |
7 |
126,975,138 (GRCm39) |
start gained |
probably benign |
|
|
R6835:Zfp747
|
UTSW |
7 |
126,973,219 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7638:Zfp747
|
UTSW |
7 |
126,973,819 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7735:Zfp747
|
UTSW |
7 |
126,973,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8043:Zfp747
|
UTSW |
7 |
126,973,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8543:Zfp747
|
UTSW |
7 |
126,973,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9132:Zfp747
|
UTSW |
7 |
126,974,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9329:Zfp747
|
UTSW |
7 |
126,973,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9415:Zfp747
|
UTSW |
7 |
126,973,198 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1176:Zfp747
|
UTSW |
7 |
126,974,631 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTTCCCACAGTCAGGACATTG -3'
(R):5'- CATTTGGACATCTGCACACTGCAC -3'
Sequencing Primer
(F):5'- CAGTCAGGACATTGGTGCG -3'
(R):5'- ACATGCTCAGATGCTGTGAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation