Incidental Mutation 'IGL02320:Zfp64'
| ID |
288192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp64
|
| Ensembl Gene |
ENSMUSG00000027551 |
| Gene Name |
zinc finger protein 64 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.828)
|
| Stock # |
IGL02320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
168735251-168797507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168768118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 498
(V498A)
|
| 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: V498A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085285
Gene: ENSMUSG00000027551
AA Change: V498A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,445,961 (GRCm39) |
S146P |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,210,620 (GRCm39) |
Y336* |
probably null |
Het |
| Arap1 |
T |
C |
7: 101,034,236 (GRCm39) |
L226P |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,614,753 (GRCm39) |
N1150Y |
probably damaging |
Het |
| Ccsap |
G |
T |
8: 124,569,177 (GRCm39) |
H221Q |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,865 (GRCm39) |
Y612N |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,523,303 (GRCm39) |
|
probably null |
Het |
| Ddx23 |
T |
C |
15: 98,548,819 (GRCm39) |
T328A |
possibly damaging |
Het |
| Depdc1a |
T |
A |
3: 159,222,570 (GRCm39) |
M252K |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,608 (GRCm39) |
R201S |
probably benign |
Het |
| Ighv1-20 |
A |
G |
12: 114,687,463 (GRCm39) |
S94P |
probably damaging |
Het |
| Itgb7 |
A |
C |
15: 102,132,772 (GRCm39) |
V180G |
probably benign |
Het |
| Mmp13 |
G |
T |
9: 7,278,941 (GRCm39) |
R344L |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,948,332 (GRCm39) |
N422K |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,231,725 (GRCm39) |
S63L |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,038 (GRCm39) |
T38I |
possibly damaging |
Het |
| Pde9a |
G |
A |
17: 31,678,059 (GRCm39) |
C187Y |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,068,341 (GRCm39) |
L490P |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,974,681 (GRCm39) |
T1193A |
probably damaging |
Het |
| Shisa2 |
T |
A |
14: 59,867,246 (GRCm39) |
M166K |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,744,088 (GRCm39) |
S40T |
possibly damaging |
Het |
| Spef2 |
A |
C |
15: 9,717,662 (GRCm39) |
S285A |
probably damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,096,231 (GRCm39) |
M120V |
probably damaging |
Het |
| Trgv7 |
C |
A |
13: 19,362,249 (GRCm39) |
P13Q |
unknown |
Het |
| Ttn |
A |
G |
2: 76,769,656 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
G |
1: 57,435,884 (GRCm39) |
|
probably null |
Het |
| Vars2 |
A |
G |
17: 35,971,346 (GRCm39) |
V212A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,316,882 (GRCm39) |
|
probably null |
Het |
| Zbed6 |
T |
C |
1: 133,585,411 (GRCm39) |
N642S |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,230 (GRCm39) |
C580S |
probably 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 |
|
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 |
|
R2254:Zfp64
|
UTSW |
2 |
168,768,662 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation