Incidental Mutation 'R9062:Zfp64'
ID |
689020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp64
|
Ensembl Gene |
ENSMUSG00000027551 |
Gene Name |
zinc finger protein 64 |
Synonyms |
|
MMRRC Submission |
068888-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.828)
|
Stock # |
R9062 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
168735251-168797507 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 168767747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 622
(T622A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087971]
[ENSMUST00000109162]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087971
AA Change: T622A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000085285 Gene: ENSMUSG00000027551 AA Change: T622A
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambra1 |
A |
G |
2: 91,740,662 (GRCm39) |
E1047G |
possibly damaging |
Het |
Ankfn1 |
T |
G |
11: 89,325,583 (GRCm39) |
I530L |
probably benign |
Het |
Apob |
A |
T |
12: 8,058,046 (GRCm39) |
Y2176F |
possibly damaging |
Het |
Atp5f1a |
C |
T |
18: 77,866,459 (GRCm39) |
R171* |
probably null |
Het |
Atxn10 |
T |
C |
15: 85,275,918 (GRCm39) |
V325A |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,948,890 (GRCm39) |
Y202H |
|
Het |
Calhm1 |
A |
T |
19: 47,129,828 (GRCm39) |
D231E |
possibly damaging |
Het |
Cel |
C |
A |
2: 28,451,214 (GRCm39) |
V48F |
probably benign |
Het |
Cep78 |
T |
A |
19: 15,956,318 (GRCm39) |
Y207F |
probably benign |
Het |
Cnst |
T |
C |
1: 179,434,100 (GRCm39) |
|
probably null |
Het |
Cpeb2 |
C |
A |
5: 43,391,171 (GRCm39) |
N122K |
|
Het |
Cyth1 |
T |
C |
11: 118,023,142 (GRCm39) |
Q432R |
unknown |
Het |
Eif2ak1 |
T |
C |
5: 143,803,548 (GRCm39) |
|
probably benign |
Het |
Eif6 |
T |
C |
2: 155,665,928 (GRCm39) |
T76A |
probably benign |
Het |
Etfrf1 |
A |
T |
6: 145,161,153 (GRCm39) |
N41I |
probably damaging |
Het |
Etl4 |
T |
G |
2: 20,748,616 (GRCm39) |
L318R |
probably damaging |
Het |
Fam151a |
G |
T |
4: 106,605,306 (GRCm39) |
W556L |
probably benign |
Het |
Gas2l1 |
A |
G |
11: 5,011,497 (GRCm39) |
V444A |
probably benign |
Het |
Gbp8 |
A |
G |
5: 105,179,124 (GRCm39) |
I125T |
possibly damaging |
Het |
Jrkl |
A |
G |
9: 13,245,338 (GRCm39) |
F108L |
probably benign |
Het |
Kif13a |
G |
T |
13: 46,941,536 (GRCm39) |
D980E |
possibly damaging |
Het |
Leng9 |
C |
T |
7: 4,151,666 (GRCm39) |
A337T |
probably damaging |
Het |
Lipo3 |
A |
C |
19: 33,757,714 (GRCm39) |
C252G |
probably damaging |
Het |
Lrp4 |
C |
A |
2: 91,303,925 (GRCm39) |
D113E |
possibly damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,527 (GRCm39) |
Y265C |
probably damaging |
Het |
Mios |
A |
T |
6: 8,233,221 (GRCm39) |
I790F |
probably benign |
Het |
Mlf2 |
G |
A |
6: 124,911,334 (GRCm39) |
|
silent |
Het |
Mycbp2 |
T |
A |
14: 103,479,796 (GRCm39) |
Y1226F |
probably benign |
Het |
Ncoa6 |
T |
A |
2: 155,263,348 (GRCm39) |
Q362L |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,341,692 (GRCm39) |
D2020G |
possibly damaging |
Het |
Or4a73 |
T |
C |
2: 89,420,923 (GRCm39) |
M179V |
probably benign |
Het |
Or4c111 |
T |
A |
2: 88,843,548 (GRCm39) |
T287S |
probably damaging |
Het |
Or52z1 |
T |
A |
7: 103,437,155 (GRCm39) |
I110L |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,421 (GRCm39) |
I150F |
probably benign |
Het |
Otop2 |
C |
A |
11: 115,214,465 (GRCm39) |
A74E |
probably benign |
Het |
Pgm1 |
T |
C |
4: 99,843,954 (GRCm39) |
I579T |
probably damaging |
Het |
Preb |
A |
G |
5: 31,116,196 (GRCm39) |
V137A |
probably benign |
Het |
Psap |
G |
T |
10: 60,131,738 (GRCm39) |
V244L |
possibly damaging |
Het |
Setbp1 |
A |
G |
18: 78,900,266 (GRCm39) |
S1134P |
probably benign |
Het |
Skp2 |
G |
T |
15: 9,113,821 (GRCm39) |
P399Q |
probably damaging |
Het |
Slc47a1 |
T |
G |
11: 61,253,924 (GRCm39) |
I222L |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,126,945 (GRCm39) |
W2022R |
probably benign |
Het |
Spef2 |
A |
G |
15: 9,601,717 (GRCm39) |
L1515S |
unknown |
Het |
Sri |
T |
C |
5: 8,106,625 (GRCm39) |
Y13H |
unknown |
Het |
Tcf25 |
T |
C |
8: 124,116,448 (GRCm39) |
F248L |
|
Het |
Tdrd12 |
T |
C |
7: 35,179,694 (GRCm39) |
T885A |
unknown |
Het |
Ttn |
T |
C |
2: 76,600,944 (GRCm39) |
T18813A |
probably damaging |
Het |
Usp42 |
A |
G |
5: 143,703,740 (GRCm39) |
V441A |
possibly damaging |
Het |
Vwa1 |
A |
T |
4: 155,854,820 (GRCm39) |
S405T |
probably benign |
Het |
Zbbx |
A |
T |
3: 74,989,124 (GRCm39) |
H326Q |
possibly damaging |
Het |
Zfp677 |
T |
G |
17: 21,612,815 (GRCm39) |
|
probably null |
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 |
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 |
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'- CAGACTAATCAGGAATGGAGTCAGC -3'
(R):5'- TTCGCCAGGTCAGTCTCATTG -3'
Sequencing Primer
(F):5'- TCAGCGGGACAGAGCAG -3'
(R):5'- TGAGTCAGCCAACTGTCCTG -3'
|
Posted On |
2021-11-19 |