Incidental Mutation 'R2427:Zfp648'
ID |
250256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp648
|
Ensembl Gene |
ENSMUSG00000066797 |
Gene Name |
zinc finger protein 648 |
Synonyms |
Gm10178, LOC207678 |
MMRRC Submission |
040389-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R2427 (G1)
|
Quality Score |
134 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
154076933-154081435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 154080819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 326
(C326Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083370
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086195]
|
AlphaFold |
D3Z0W3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086195
AA Change: C326Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083370 Gene: ENSMUSG00000066797 AA Change: C326Y
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
236 |
258 |
1.82e-3 |
SMART |
ZnF_C2H2
|
264 |
286 |
1.28e-3 |
SMART |
ZnF_C2H2
|
292 |
315 |
1.2e-3 |
SMART |
ZnF_C2H2
|
321 |
343 |
1.95e-3 |
SMART |
ZnF_C2H2
|
349 |
371 |
8.94e-3 |
SMART |
ZnF_C2H2
|
377 |
399 |
8.34e-3 |
SMART |
ZnF_C2H2
|
405 |
427 |
4.54e-4 |
SMART |
ZnF_C2H2
|
433 |
455 |
4.47e-3 |
SMART |
ZnF_C2H2
|
461 |
483 |
5.81e-2 |
SMART |
ZnF_C2H2
|
489 |
511 |
1.2e-3 |
SMART |
|
Meta Mutation Damage Score |
0.7735 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
|
Other mutations in Zfp648 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Zfp648
|
APN |
1 |
154,079,935 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01150:Zfp648
|
APN |
1 |
154,081,110 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01557:Zfp648
|
APN |
1 |
154,080,426 (GRCm39) |
missense |
probably benign |
|
IGL01757:Zfp648
|
APN |
1 |
154,080,671 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02247:Zfp648
|
APN |
1 |
154,079,923 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4519001:Zfp648
|
UTSW |
1 |
154,080,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R0001:Zfp648
|
UTSW |
1 |
154,081,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R0256:Zfp648
|
UTSW |
1 |
154,081,414 (GRCm39) |
missense |
probably benign |
0.08 |
R0266:Zfp648
|
UTSW |
1 |
154,080,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0371:Zfp648
|
UTSW |
1 |
154,080,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1498:Zfp648
|
UTSW |
1 |
154,081,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Zfp648
|
UTSW |
1 |
154,080,138 (GRCm39) |
missense |
probably benign |
|
R1687:Zfp648
|
UTSW |
1 |
154,079,988 (GRCm39) |
missense |
probably benign |
0.15 |
R2128:Zfp648
|
UTSW |
1 |
154,080,353 (GRCm39) |
missense |
probably benign |
|
R2567:Zfp648
|
UTSW |
1 |
154,080,695 (GRCm39) |
missense |
probably damaging |
0.98 |
R2844:Zfp648
|
UTSW |
1 |
154,080,881 (GRCm39) |
nonsense |
probably null |
|
R3711:Zfp648
|
UTSW |
1 |
154,080,304 (GRCm39) |
missense |
probably benign |
0.30 |
R4491:Zfp648
|
UTSW |
1 |
154,080,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R4693:Zfp648
|
UTSW |
1 |
154,080,152 (GRCm39) |
missense |
probably benign |
0.01 |
R5666:Zfp648
|
UTSW |
1 |
154,079,963 (GRCm39) |
missense |
probably benign |
0.00 |
R5670:Zfp648
|
UTSW |
1 |
154,079,963 (GRCm39) |
missense |
probably benign |
0.00 |
R7432:Zfp648
|
UTSW |
1 |
154,080,783 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8069:Zfp648
|
UTSW |
1 |
154,079,862 (GRCm39) |
missense |
probably benign |
0.34 |
R8137:Zfp648
|
UTSW |
1 |
154,081,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R8282:Zfp648
|
UTSW |
1 |
154,080,535 (GRCm39) |
missense |
probably benign |
0.25 |
R9023:Zfp648
|
UTSW |
1 |
154,080,914 (GRCm39) |
missense |
probably damaging |
0.98 |
R9489:Zfp648
|
UTSW |
1 |
154,080,110 (GRCm39) |
missense |
probably benign |
0.17 |
R9520:Zfp648
|
UTSW |
1 |
154,081,221 (GRCm39) |
missense |
probably benign |
|
R9605:Zfp648
|
UTSW |
1 |
154,080,110 (GRCm39) |
missense |
probably benign |
0.17 |
Z1088:Zfp648
|
UTSW |
1 |
154,080,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGCGACAAGGCGTACAC -3'
(R):5'- CAGTCGGTGCATTTGAAGGG -3'
Sequencing Primer
(F):5'- AAGGCGTACACCTGGTCCTC -3'
(R):5'- ATTTGGTGAAGCACTTGCCGC -3'
|
Posted On |
2014-11-12 |