Incidental Mutation 'R2254:Zfp64'
ID |
241854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp64
|
Ensembl Gene |
ENSMUSG00000027551 |
Gene Name |
zinc finger protein 64 |
Synonyms |
|
MMRRC Submission |
040254-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.863)
|
Stock # |
R2254 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
168735251-168797507 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 168768662 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 317
(H317Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087971]
[ENSMUST00000109162]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087971
AA Change: H317Y
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000085285 Gene: ENSMUSG00000027551 AA Change: H317Y
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
31 |
51 |
5.54e1 |
SMART |
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
ZnF_C2H2
|
142 |
167 |
1.68e1 |
SMART |
ZnF_C2H2
|
173 |
195 |
2.24e-3 |
SMART |
ZnF_C2H2
|
201 |
223 |
1.58e-3 |
SMART |
ZnF_C2H2
|
229 |
251 |
2.24e-3 |
SMART |
ZnF_C2H2
|
257 |
279 |
3.89e-3 |
SMART |
ZnF_C2H2
|
285 |
308 |
6.32e-3 |
SMART |
ZnF_C2H2
|
313 |
335 |
2.05e-2 |
SMART |
ZnF_C2H2
|
341 |
363 |
1.95e-3 |
SMART |
ZnF_C2H2
|
369 |
392 |
1.36e-2 |
SMART |
ZnF_C2H2
|
423 |
445 |
1.47e-3 |
SMART |
low complexity region
|
503 |
522 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109162
|
SMART Domains |
Protein: ENSMUSP00000104790 Gene: ENSMUSG00000027551
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
31 |
51 |
5.54e1 |
SMART |
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
ZnF_C2H2
|
142 |
167 |
1.68e1 |
SMART |
ZnF_C2H2
|
173 |
195 |
2.24e-3 |
SMART |
ZnF_C2H2
|
201 |
223 |
1.58e-3 |
SMART |
ZnF_C2H2
|
229 |
251 |
2.24e-3 |
SMART |
ZnF_C2H2
|
297 |
322 |
5.2e0 |
SMART |
ZnF_C2H2
|
328 |
350 |
4.17e-3 |
SMART |
ZnF_C2H2
|
356 |
378 |
6.78e-3 |
SMART |
ZnF_C2H2
|
384 |
406 |
2.24e-3 |
SMART |
ZnF_C2H2
|
412 |
434 |
1.79e-2 |
SMART |
ZnF_C2H2
|
440 |
463 |
9.58e-3 |
SMART |
ZnF_C2H2
|
465 |
487 |
3.78e-1 |
SMART |
ZnF_C2H2
|
493 |
515 |
3.89e-3 |
SMART |
ZnF_C2H2
|
521 |
544 |
1.92e-2 |
SMART |
ZnF_C2H2
|
578 |
600 |
5.34e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,311,365 (GRCm39) |
E260G |
probably benign |
Het |
AI429214 |
G |
T |
8: 37,460,920 (GRCm39) |
D23Y |
possibly damaging |
Het |
Alms1 |
A |
G |
6: 85,596,830 (GRCm39) |
Y1021C |
probably damaging |
Het |
Ang5 |
A |
G |
14: 44,200,074 (GRCm39) |
D46G |
probably benign |
Het |
Ano9 |
T |
A |
7: 140,683,003 (GRCm39) |
D635V |
probably benign |
Het |
Apob |
C |
T |
12: 8,061,256 (GRCm39) |
T3246I |
possibly damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,390 (GRCm39) |
E63G |
probably benign |
Het |
B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,824,634 (GRCm39) |
C243F |
probably damaging |
Het |
Cdh2 |
A |
T |
18: 16,776,985 (GRCm39) |
|
probably null |
Het |
Chmp7 |
C |
T |
14: 69,958,405 (GRCm39) |
V255I |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,352,979 (GRCm39) |
S2711T |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,939,707 (GRCm39) |
K137* |
probably null |
Het |
Gdi2 |
T |
A |
13: 3,604,400 (GRCm39) |
|
probably null |
Het |
Glyr1 |
A |
G |
16: 4,836,877 (GRCm39) |
V429A |
probably benign |
Het |
Gm5938 |
T |
A |
X: 77,172,161 (GRCm39) |
|
probably null |
Het |
Golt1b |
T |
C |
6: 142,341,979 (GRCm39) |
L121P |
probably damaging |
Het |
Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
Ifi204 |
G |
A |
1: 173,589,296 (GRCm39) |
T45M |
possibly damaging |
Het |
Il18r1 |
A |
G |
1: 40,530,380 (GRCm39) |
N369S |
possibly damaging |
Het |
Kcnh1 |
G |
T |
1: 192,187,722 (GRCm39) |
|
probably null |
Het |
Kitl |
G |
A |
10: 99,915,993 (GRCm39) |
|
probably null |
Het |
Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
Lax1 |
A |
G |
1: 133,607,971 (GRCm39) |
S257P |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,672,309 (GRCm39) |
I1111T |
probably benign |
Het |
Lrrcc1 |
G |
A |
3: 14,612,315 (GRCm39) |
R356H |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
Med11 |
T |
C |
11: 70,342,921 (GRCm39) |
|
probably null |
Het |
Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
Nup93 |
T |
C |
8: 94,954,485 (GRCm39) |
|
probably null |
Het |
Or51ag1 |
A |
G |
7: 103,155,271 (GRCm39) |
V294A |
probably damaging |
Het |
Ovch2 |
A |
G |
7: 107,389,402 (GRCm39) |
V342A |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,894,228 (GRCm39) |
|
probably benign |
Het |
Oxtr |
A |
T |
6: 112,466,067 (GRCm39) |
L231Q |
probably damaging |
Het |
Prap1 |
A |
G |
7: 139,676,075 (GRCm39) |
T30A |
probably damaging |
Het |
Scg2 |
G |
A |
1: 79,414,217 (GRCm39) |
P169S |
probably damaging |
Het |
Scube2 |
A |
G |
7: 109,424,666 (GRCm39) |
V549A |
possibly damaging |
Het |
Slc22a12 |
A |
T |
19: 6,592,571 (GRCm39) |
V57D |
possibly damaging |
Het |
Slc22a28 |
A |
C |
19: 8,041,858 (GRCm39) |
C450G |
probably benign |
Het |
Tas2r120 |
A |
T |
6: 132,634,572 (GRCm39) |
Q218L |
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,259,190 (GRCm39) |
T354A |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,935,612 (GRCm39) |
T868A |
probably benign |
Het |
Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
Wdr20rt |
T |
A |
12: 65,273,007 (GRCm39) |
W56R |
probably damaging |
Het |
Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp40 |
T |
C |
17: 23,397,344 (GRCm39) |
D51G |
possibly damaging |
Het |
|
Other mutations in Zfp64 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Zfp64
|
APN |
2 |
168,768,601 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01479:Zfp64
|
APN |
2 |
168,793,599 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02320:Zfp64
|
APN |
2 |
168,768,118 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03411:Zfp64
|
APN |
2 |
168,793,462 (GRCm39) |
splice site |
probably null |
|
PIT4362001:Zfp64
|
UTSW |
2 |
168,767,735 (GRCm39) |
missense |
probably benign |
0.23 |
R0033:Zfp64
|
UTSW |
2 |
168,767,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0033:Zfp64
|
UTSW |
2 |
168,767,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0230:Zfp64
|
UTSW |
2 |
168,754,150 (GRCm39) |
splice site |
probably benign |
|
R0325:Zfp64
|
UTSW |
2 |
168,767,960 (GRCm39) |
missense |
probably benign |
0.00 |
R0689:Zfp64
|
UTSW |
2 |
168,777,121 (GRCm39) |
splice site |
probably benign |
|
R1741:Zfp64
|
UTSW |
2 |
168,768,238 (GRCm39) |
missense |
probably benign |
0.05 |
R2054:Zfp64
|
UTSW |
2 |
168,767,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Zfp64
|
UTSW |
2 |
168,782,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R4093:Zfp64
|
UTSW |
2 |
168,767,855 (GRCm39) |
missense |
probably benign |
0.00 |
R4094:Zfp64
|
UTSW |
2 |
168,767,855 (GRCm39) |
missense |
probably benign |
0.00 |
R4257:Zfp64
|
UTSW |
2 |
168,768,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Zfp64
|
UTSW |
2 |
168,768,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4642:Zfp64
|
UTSW |
2 |
168,776,851 (GRCm39) |
missense |
probably benign |
0.22 |
R4817:Zfp64
|
UTSW |
2 |
168,768,032 (GRCm39) |
missense |
probably benign |
|
R4880:Zfp64
|
UTSW |
2 |
168,736,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R5051:Zfp64
|
UTSW |
2 |
168,768,304 (GRCm39) |
missense |
probably damaging |
0.98 |
R5155:Zfp64
|
UTSW |
2 |
168,748,885 (GRCm39) |
missense |
probably benign |
0.17 |
R5562:Zfp64
|
UTSW |
2 |
168,767,642 (GRCm39) |
missense |
probably benign |
0.00 |
R5619:Zfp64
|
UTSW |
2 |
168,741,734 (GRCm39) |
missense |
probably damaging |
0.99 |
R5619:Zfp64
|
UTSW |
2 |
168,741,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R5620:Zfp64
|
UTSW |
2 |
168,741,888 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5919:Zfp64
|
UTSW |
2 |
168,768,419 (GRCm39) |
missense |
probably benign |
0.05 |
R6156:Zfp64
|
UTSW |
2 |
168,768,088 (GRCm39) |
missense |
probably benign |
0.34 |
R6364:Zfp64
|
UTSW |
2 |
168,754,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Zfp64
|
UTSW |
2 |
168,777,129 (GRCm39) |
critical splice donor site |
probably null |
|
R6512:Zfp64
|
UTSW |
2 |
168,735,997 (GRCm39) |
missense |
probably benign |
0.00 |
R6588:Zfp64
|
UTSW |
2 |
168,768,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7103:Zfp64
|
UTSW |
2 |
168,768,357 (GRCm39) |
missense |
probably benign |
0.00 |
R7313:Zfp64
|
UTSW |
2 |
168,741,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R7470:Zfp64
|
UTSW |
2 |
168,767,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R7529:Zfp64
|
UTSW |
2 |
168,735,992 (GRCm39) |
missense |
probably benign |
|
R7560:Zfp64
|
UTSW |
2 |
168,767,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R7963:Zfp64
|
UTSW |
2 |
168,793,538 (GRCm39) |
missense |
probably benign |
0.32 |
R8037:Zfp64
|
UTSW |
2 |
168,741,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R8038:Zfp64
|
UTSW |
2 |
168,741,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R8825:Zfp64
|
UTSW |
2 |
168,793,552 (GRCm39) |
missense |
probably benign |
|
R8840:Zfp64
|
UTSW |
2 |
168,768,635 (GRCm39) |
missense |
probably benign |
|
R8891:Zfp64
|
UTSW |
2 |
168,797,083 (GRCm39) |
start codon destroyed |
probably null |
0.37 |
R9062:Zfp64
|
UTSW |
2 |
168,767,747 (GRCm39) |
missense |
probably benign |
|
R9592:Zfp64
|
UTSW |
2 |
168,768,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R9681:Zfp64
|
UTSW |
2 |
168,793,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTGGTATCGAAGCTGCAG -3'
(R):5'- ACTCACCTTGTGTTGACAGG -3'
Sequencing Primer
(F):5'- CAGTAGCTGCACTTGAACGG -3'
(R):5'- TGTGTTGACAGGGGACGCC -3'
|
Posted On |
2014-10-16 |