Incidental Mutation 'R0033:Zfp64'
ID |
64539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp64
|
Ensembl Gene |
ENSMUSG00000027551 |
Gene Name |
zinc finger protein 64 |
Synonyms |
|
MMRRC Submission |
038327-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.863)
|
Stock # |
R0033 (G1)
|
Quality Score |
115 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
168735251-168797507 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 168767635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 659
(I659N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087971]
[ENSMUST00000109162]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087971
AA Change: I659N
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000085285 Gene: ENSMUSG00000027551 AA Change: I659N
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 |
|
Meta Mutation Damage Score |
0.2230 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
Validation Efficiency |
100% (81/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
C |
1: 120,115,794 (GRCm39) |
F110L |
probably damaging |
Het |
Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
Ankib1 |
A |
C |
5: 3,819,588 (GRCm39) |
D110E |
possibly damaging |
Het |
Auts2 |
G |
C |
5: 131,468,931 (GRCm39) |
D571E |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,827,446 (GRCm39) |
Q993L |
probably damaging |
Het |
Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
Emilin2 |
G |
T |
17: 71,582,009 (GRCm39) |
T239K |
probably benign |
Het |
Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,377,017 (GRCm39) |
V151A |
probably damaging |
Het |
Fer1l4 |
G |
A |
2: 155,866,026 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
T |
C |
5: 105,424,710 (GRCm39) |
D310G |
probably benign |
Het |
Gstk1 |
A |
G |
6: 42,223,737 (GRCm39) |
|
probably benign |
Het |
Hapln1 |
A |
T |
13: 89,749,932 (GRCm39) |
Q159L |
probably benign |
Het |
Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,142,131 (GRCm39) |
Y382* |
probably null |
Het |
Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
Klc4 |
A |
T |
17: 46,946,359 (GRCm39) |
C489S |
probably damaging |
Het |
Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
Macc1 |
T |
A |
12: 119,410,076 (GRCm39) |
N281K |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
Myoc |
G |
A |
1: 162,476,010 (GRCm39) |
G238E |
probably damaging |
Het |
Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,885,572 (GRCm39) |
|
probably benign |
Het |
Oplah |
T |
A |
15: 76,181,334 (GRCm39) |
Q1202L |
probably benign |
Het |
Or5p62 |
G |
T |
7: 107,771,134 (GRCm39) |
D272E |
probably benign |
Het |
Or9s23 |
A |
G |
1: 92,500,982 (GRCm39) |
T30A |
probably benign |
Het |
Ppargc1b |
G |
A |
18: 61,440,765 (GRCm39) |
R718W |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,881 (GRCm39) |
Y284F |
probably benign |
Het |
Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
Rnf225 |
T |
C |
7: 12,662,085 (GRCm39) |
L88P |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,055,929 (GRCm39) |
D820G |
probably benign |
Het |
Slc12a4 |
G |
T |
8: 106,674,111 (GRCm39) |
|
probably benign |
Het |
Slx4 |
C |
T |
16: 3,805,864 (GRCm39) |
A72T |
probably benign |
Het |
Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
Stap2 |
C |
T |
17: 56,306,976 (GRCm39) |
V234M |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
Tdp1 |
C |
T |
12: 99,901,311 (GRCm39) |
T531I |
probably benign |
Het |
Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
Trav6n-5 |
T |
A |
14: 53,342,368 (GRCm39) |
M14K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,572,624 (GRCm39) |
I26090F |
probably damaging |
Het |
Tut1 |
G |
T |
19: 8,940,123 (GRCm39) |
R369L |
probably benign |
Het |
Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,959,991 (GRCm39) |
T597A |
probably benign |
Het |
Vmn1r58 |
A |
T |
7: 5,413,387 (GRCm39) |
I281K |
probably damaging |
Het |
Vmn1r59 |
A |
G |
7: 5,457,433 (GRCm39) |
V109A |
probably benign |
Het |
Xdh |
T |
A |
17: 74,214,627 (GRCm39) |
M773L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTGAGGGAGAATGGTCTCCAC -3'
(R):5'- TTCGCCAGGTCAGTCTCATTGC -3'
Sequencing Primer
(F):5'- GAGAATGGTCTCCACGTTGATAC -3'
(R):5'- AGACATTCATTGCCAGTTCGG -3'
|
Posted On |
2013-08-06 |