Incidental Mutation 'R8038:Zfp64'
| ID |
618319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp64
|
| Ensembl Gene |
ENSMUSG00000027551 |
| Gene Name |
zinc finger protein 64 |
| Synonyms |
|
| MMRRC Submission |
067475-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.863)
|
| Stock # |
R8038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168735251-168797507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168741932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 332
(F332S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109162]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109162
AA Change: F332S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104790
Gene: ENSMUSG00000027551
AA Change: F332S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,106,730 (GRCm39) |
M143K |
probably damaging |
Het |
| Accs |
A |
T |
2: 93,673,262 (GRCm39) |
|
probably null |
Het |
| Alkbh5 |
T |
C |
11: 60,429,811 (GRCm39) |
V188A |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,594,865 (GRCm39) |
V2098I |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,067,416 (GRCm39) |
Y580H |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Cops2 |
A |
T |
2: 125,674,206 (GRCm39) |
H420Q |
probably benign |
Het |
| Ctcfl |
A |
T |
2: 172,943,698 (GRCm39) |
C551S |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Fam90a1a |
A |
T |
8: 22,453,455 (GRCm39) |
N270I |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ighe |
A |
T |
12: 113,233,053 (GRCm39) |
V456D |
|
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,990,291 (GRCm39) |
N921K |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,098,958 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
G |
11: 115,741,929 (GRCm39) |
M657R |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,630,890 (GRCm39) |
I1019K |
possibly damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,638 (GRCm39) |
D321V |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,890 (GRCm39) |
V82A |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,537,421 (GRCm39) |
S154P |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,570 (GRCm39) |
I489V |
probably benign |
Het |
| Nat8f5 |
T |
A |
6: 85,794,667 (GRCm39) |
T98S |
possibly damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,212 (GRCm39) |
L186Q |
probably damaging |
Het |
| Or7e166 |
G |
T |
9: 19,624,976 (GRCm39) |
M284I |
possibly damaging |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,872,463 (GRCm39) |
I225V |
probably benign |
Het |
| Ppfia1 |
C |
A |
7: 144,068,653 (GRCm39) |
A414S |
possibly damaging |
Het |
| Ppib |
T |
C |
9: 65,967,615 (GRCm39) |
V23A |
probably benign |
Het |
| Rabggta |
A |
T |
14: 55,956,387 (GRCm39) |
S361T |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,109 (GRCm39) |
S664G |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,818,178 (GRCm39) |
V285A |
possibly damaging |
Het |
| Rtn4rl1 |
G |
C |
11: 75,156,707 (GRCm39) |
E380Q |
possibly damaging |
Het |
| Scarb2 |
A |
T |
5: 92,599,307 (GRCm39) |
S338T |
probably damaging |
Het |
| Skint4 |
T |
G |
4: 111,977,003 (GRCm39) |
|
probably benign |
Het |
| Slc13a5 |
T |
C |
11: 72,144,196 (GRCm39) |
K294R |
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,310 (GRCm39) |
F32S |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,959,554 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tmem126b |
C |
T |
7: 90,118,830 (GRCm39) |
V153I |
probably benign |
Het |
| Uba2 |
A |
T |
7: 33,847,022 (GRCm39) |
Y440N |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,886,320 (GRCm39) |
E129G |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,413,639 (GRCm39) |
D167G |
probably benign |
Het |
| Zfp786 |
C |
T |
6: 47,798,188 (GRCm39) |
R250H |
probably benign |
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 |
|
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 |
168,741,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5619:Zfp64
|
UTSW |
2 |
168,741,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GGGACAGAGTTGGCACTTGTAG -3'
(R):5'- AGGCCCATCTGCTCACACTATC -3'
Sequencing Primer
(F):5'- ACTTGTAGGGCCGCTCGTC -3'
(R):5'- TCACCAGTGATGGTCAACTTGACAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation