Incidental Mutation 'R1512:Zfp608'
ID |
168459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp608
|
Ensembl Gene |
ENSMUSG00000052713 |
Gene Name |
zinc finger protein 608 |
Synonyms |
4932417D18Rik |
MMRRC Submission |
039559-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.899)
|
Stock # |
R1512 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
55021120-55125627 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55079738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 349
(V349A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
AlphaFold |
Q56A10 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064763
AA Change: V349A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068192 Gene: ENSMUSG00000052713 AA Change: V349A
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
61 |
N/A |
INTRINSIC |
low complexity region
|
150 |
184 |
N/A |
INTRINSIC |
low complexity region
|
214 |
234 |
N/A |
INTRINSIC |
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
low complexity region
|
309 |
326 |
N/A |
INTRINSIC |
low complexity region
|
428 |
445 |
N/A |
INTRINSIC |
low complexity region
|
459 |
471 |
N/A |
INTRINSIC |
ZnF_C2H2
|
552 |
577 |
1.86e0 |
SMART |
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
low complexity region
|
706 |
718 |
N/A |
INTRINSIC |
low complexity region
|
734 |
773 |
N/A |
INTRINSIC |
low complexity region
|
807 |
822 |
N/A |
INTRINSIC |
low complexity region
|
833 |
846 |
N/A |
INTRINSIC |
low complexity region
|
934 |
956 |
N/A |
INTRINSIC |
coiled coil region
|
1028 |
1054 |
N/A |
INTRINSIC |
low complexity region
|
1182 |
1193 |
N/A |
INTRINSIC |
low complexity region
|
1255 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1439 |
1450 |
N/A |
INTRINSIC |
low complexity region
|
1458 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1486 |
1502 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1385 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
95% (79/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,086,295 (GRCm39) |
D40E |
probably benign |
Het |
Acsf2 |
C |
T |
11: 94,452,224 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
C |
T |
18: 59,181,917 (GRCm39) |
H1119Y |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 52,983,937 (GRCm39) |
D827G |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,375 (GRCm39) |
D55G |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,229,316 (GRCm39) |
H569Q |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,346,510 (GRCm39) |
D548G |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,960,021 (GRCm39) |
D1433G |
possibly damaging |
Het |
BC031181 |
T |
G |
18: 75,141,767 (GRCm39) |
V8G |
probably damaging |
Het |
Bicdl2 |
A |
T |
17: 23,887,083 (GRCm39) |
M457L |
probably damaging |
Het |
C130074G19Rik |
T |
C |
1: 184,615,103 (GRCm39) |
D29G |
probably damaging |
Het |
Cd200r1 |
A |
T |
16: 44,586,390 (GRCm39) |
T7S |
probably benign |
Het |
Cdc37 |
A |
G |
9: 21,053,712 (GRCm39) |
|
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,949,267 (GRCm39) |
S526P |
probably damaging |
Het |
Cntn2 |
G |
T |
1: 132,451,430 (GRCm39) |
A433D |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 115,828,680 (GRCm39) |
S35P |
probably benign |
Het |
Csf3r |
A |
G |
4: 125,923,777 (GRCm39) |
T96A |
possibly damaging |
Het |
Ctbs |
A |
G |
3: 146,160,720 (GRCm39) |
N96D |
probably benign |
Het |
Cyp26b1 |
C |
A |
6: 84,553,979 (GRCm39) |
V213L |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,138,835 (GRCm39) |
L536P |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,179,589 (GRCm39) |
Q517R |
probably benign |
Het |
Dnah1 |
G |
T |
14: 31,014,994 (GRCm39) |
Q1733K |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,985,841 (GRCm39) |
I1416N |
probably benign |
Het |
Dock11 |
G |
A |
X: 35,283,688 (GRCm39) |
R1102H |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,971,096 (GRCm39) |
|
probably benign |
Het |
Emc1 |
G |
A |
4: 139,087,495 (GRCm39) |
|
probably null |
Het |
Emc8 |
A |
G |
8: 121,384,983 (GRCm39) |
L76P |
possibly damaging |
Het |
Emx2 |
T |
C |
19: 59,448,035 (GRCm39) |
Y130H |
possibly damaging |
Het |
Fbf1 |
C |
T |
11: 116,038,753 (GRCm39) |
R815Q |
probably damaging |
Het |
Foxb2 |
G |
A |
19: 16,849,878 (GRCm39) |
P376L |
probably damaging |
Het |
Gabrb1 |
C |
A |
5: 72,266,047 (GRCm39) |
L202I |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 72,266,048 (GRCm39) |
L202Q |
probably damaging |
Het |
Grin2c |
T |
A |
11: 115,144,676 (GRCm39) |
I617F |
probably damaging |
Het |
Gtf2h3 |
T |
A |
5: 124,728,933 (GRCm39) |
V164E |
probably damaging |
Het |
Gusb |
T |
C |
5: 130,029,731 (GRCm39) |
Q88R |
probably damaging |
Het |
Hormad2 |
T |
A |
11: 4,374,788 (GRCm39) |
K75N |
probably damaging |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Ivns1abp |
A |
T |
1: 151,236,687 (GRCm39) |
Q416L |
possibly damaging |
Het |
Ivns1abp |
G |
C |
1: 151,236,688 (GRCm39) |
Q416H |
probably benign |
Het |
Kcnh5 |
T |
A |
12: 75,166,711 (GRCm39) |
H178L |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,543 (GRCm39) |
N579S |
probably benign |
Het |
Kif26a |
G |
C |
12: 112,113,389 (GRCm39) |
R95P |
possibly damaging |
Het |
Kl |
A |
G |
5: 150,912,062 (GRCm39) |
I604V |
probably benign |
Het |
Klhl24 |
A |
G |
16: 19,941,686 (GRCm39) |
K545E |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,306,347 (GRCm39) |
I153M |
probably damaging |
Het |
Meis1 |
T |
G |
11: 18,831,682 (GRCm39) |
D452A |
probably damaging |
Het |
Msantd4 |
C |
T |
9: 4,384,138 (GRCm39) |
P153L |
probably benign |
Het |
Myot |
A |
G |
18: 44,475,422 (GRCm39) |
E181G |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,281,195 (GRCm39) |
F150S |
probably damaging |
Het |
Nyap2 |
T |
A |
1: 81,219,566 (GRCm39) |
S529R |
probably damaging |
Het |
Or10d3 |
T |
C |
9: 39,461,390 (GRCm39) |
Y259C |
probably damaging |
Het |
Or12e10 |
A |
T |
2: 87,640,988 (GRCm39) |
T275S |
probably benign |
Het |
Or2y1c |
A |
G |
11: 49,361,286 (GRCm39) |
I103V |
probably benign |
Het |
Or8b56 |
T |
A |
9: 38,739,660 (GRCm39) |
Y224* |
probably null |
Het |
Pcnt |
C |
T |
10: 76,240,496 (GRCm39) |
|
probably null |
Het |
Pik3c3 |
T |
C |
18: 30,455,289 (GRCm39) |
|
probably null |
Het |
Pkdcc |
A |
T |
17: 83,527,473 (GRCm39) |
Y217F |
possibly damaging |
Het |
Pnpla6 |
C |
A |
8: 3,585,459 (GRCm39) |
|
probably benign |
Het |
Polr3gl |
T |
C |
3: 96,488,190 (GRCm39) |
M26V |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,838,842 (GRCm39) |
N12S |
possibly damaging |
Het |
Ppp1r26 |
G |
A |
2: 28,341,528 (GRCm39) |
R386K |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,248,697 (GRCm39) |
E355G |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,131,554 (GRCm39) |
F41S |
possibly damaging |
Het |
Prkar1b |
G |
T |
5: 139,036,428 (GRCm39) |
Y231* |
probably null |
Het |
Prkdc |
A |
T |
16: 15,505,268 (GRCm39) |
I857L |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,390,425 (GRCm39) |
N10K |
probably benign |
Het |
Rapgef3 |
A |
T |
15: 97,655,382 (GRCm39) |
V444E |
probably benign |
Het |
Rnf17 |
A |
T |
14: 56,705,243 (GRCm39) |
T716S |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,578,315 (GRCm39) |
R577H |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,161,629 (GRCm39) |
N306K |
possibly damaging |
Het |
Skint6 |
A |
G |
4: 113,095,329 (GRCm39) |
I110T |
probably damaging |
Het |
Ssu2 |
A |
G |
6: 112,364,959 (GRCm39) |
M1T |
probably null |
Het |
Stag3 |
A |
T |
5: 138,296,247 (GRCm39) |
T437S |
probably benign |
Het |
Tal2 |
A |
G |
4: 53,786,107 (GRCm39) |
Y96C |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,613,991 (GRCm39) |
|
probably null |
Het |
Tle1 |
T |
C |
4: 72,059,495 (GRCm39) |
D19G |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,964,468 (GRCm39) |
I690T |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,853,295 (GRCm39) |
M1772L |
probably benign |
Het |
Unc5b |
G |
A |
10: 60,667,254 (GRCm39) |
|
probably benign |
Het |
Usf3 |
G |
T |
16: 44,041,561 (GRCm39) |
V2014F |
probably damaging |
Het |
Utp18 |
C |
T |
11: 93,776,390 (GRCm39) |
A32T |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,682,765 (GRCm39) |
V2981A |
probably damaging |
Het |
Znfx1 |
A |
C |
2: 166,898,237 (GRCm39) |
I229S |
probably benign |
Het |
|
Other mutations in Zfp608 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Zfp608
|
APN |
18 |
55,121,405 (GRCm39) |
missense |
probably benign |
|
IGL00920:Zfp608
|
APN |
18 |
55,022,903 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01088:Zfp608
|
APN |
18 |
55,031,159 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01447:Zfp608
|
APN |
18 |
55,032,083 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01534:Zfp608
|
APN |
18 |
55,032,004 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01547:Zfp608
|
APN |
18 |
55,027,521 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01933:Zfp608
|
APN |
18 |
55,120,871 (GRCm39) |
missense |
probably benign |
|
IGL01998:Zfp608
|
APN |
18 |
55,024,890 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02167:Zfp608
|
APN |
18 |
55,121,296 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02266:Zfp608
|
APN |
18 |
55,030,653 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02335:Zfp608
|
APN |
18 |
55,030,509 (GRCm39) |
nonsense |
probably null |
|
IGL02455:Zfp608
|
APN |
18 |
55,032,405 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Zfp608
|
APN |
18 |
55,031,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Zfp608
|
APN |
18 |
55,079,865 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4243001:Zfp608
|
UTSW |
18 |
55,031,096 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4519001:Zfp608
|
UTSW |
18 |
55,079,783 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0005:Zfp608
|
UTSW |
18 |
55,028,592 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0010:Zfp608
|
UTSW |
18 |
55,028,286 (GRCm39) |
splice site |
probably benign |
|
R0010:Zfp608
|
UTSW |
18 |
55,028,286 (GRCm39) |
splice site |
probably benign |
|
R0064:Zfp608
|
UTSW |
18 |
55,031,888 (GRCm39) |
missense |
probably benign |
|
R0401:Zfp608
|
UTSW |
18 |
55,032,066 (GRCm39) |
missense |
probably benign |
|
R0722:Zfp608
|
UTSW |
18 |
55,033,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1351:Zfp608
|
UTSW |
18 |
55,031,463 (GRCm39) |
missense |
probably benign |
0.00 |
R1554:Zfp608
|
UTSW |
18 |
55,031,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R1622:Zfp608
|
UTSW |
18 |
55,121,366 (GRCm39) |
missense |
probably benign |
0.07 |
R1669:Zfp608
|
UTSW |
18 |
55,120,811 (GRCm39) |
missense |
probably benign |
0.09 |
R1690:Zfp608
|
UTSW |
18 |
55,120,706 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1721:Zfp608
|
UTSW |
18 |
55,032,321 (GRCm39) |
missense |
probably benign |
|
R1826:Zfp608
|
UTSW |
18 |
55,031,648 (GRCm39) |
missense |
probably benign |
0.03 |
R1864:Zfp608
|
UTSW |
18 |
55,030,983 (GRCm39) |
missense |
probably benign |
0.00 |
R1952:Zfp608
|
UTSW |
18 |
55,030,851 (GRCm39) |
nonsense |
probably null |
|
R2049:Zfp608
|
UTSW |
18 |
55,028,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Zfp608
|
UTSW |
18 |
55,121,386 (GRCm39) |
missense |
probably benign |
|
R2168:Zfp608
|
UTSW |
18 |
55,031,125 (GRCm39) |
nonsense |
probably null |
|
R2218:Zfp608
|
UTSW |
18 |
55,120,756 (GRCm39) |
missense |
probably benign |
0.14 |
R2283:Zfp608
|
UTSW |
18 |
55,121,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R2399:Zfp608
|
UTSW |
18 |
55,030,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R2520:Zfp608
|
UTSW |
18 |
55,121,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2961:Zfp608
|
UTSW |
18 |
55,031,544 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4074:Zfp608
|
UTSW |
18 |
55,031,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4076:Zfp608
|
UTSW |
18 |
55,031,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4206:Zfp608
|
UTSW |
18 |
55,121,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Zfp608
|
UTSW |
18 |
55,027,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Zfp608
|
UTSW |
18 |
55,121,372 (GRCm39) |
missense |
probably benign |
|
R4820:Zfp608
|
UTSW |
18 |
55,120,756 (GRCm39) |
missense |
probably benign |
0.14 |
R4825:Zfp608
|
UTSW |
18 |
55,031,041 (GRCm39) |
missense |
probably benign |
0.01 |
R4912:Zfp608
|
UTSW |
18 |
55,079,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R4975:Zfp608
|
UTSW |
18 |
55,022,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R5138:Zfp608
|
UTSW |
18 |
55,024,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5192:Zfp608
|
UTSW |
18 |
55,031,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R5557:Zfp608
|
UTSW |
18 |
55,120,942 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5624:Zfp608
|
UTSW |
18 |
55,031,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R5818:Zfp608
|
UTSW |
18 |
55,028,468 (GRCm39) |
missense |
probably benign |
0.02 |
R5840:Zfp608
|
UTSW |
18 |
55,031,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R5992:Zfp608
|
UTSW |
18 |
55,032,320 (GRCm39) |
missense |
probably benign |
0.15 |
R6106:Zfp608
|
UTSW |
18 |
55,120,944 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6174:Zfp608
|
UTSW |
18 |
55,121,616 (GRCm39) |
start gained |
probably benign |
|
R6181:Zfp608
|
UTSW |
18 |
55,028,700 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6517:Zfp608
|
UTSW |
18 |
55,032,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6567:Zfp608
|
UTSW |
18 |
55,030,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R6668:Zfp608
|
UTSW |
18 |
55,031,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R6920:Zfp608
|
UTSW |
18 |
55,121,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7061:Zfp608
|
UTSW |
18 |
55,121,069 (GRCm39) |
missense |
probably benign |
|
R7074:Zfp608
|
UTSW |
18 |
55,030,454 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7087:Zfp608
|
UTSW |
18 |
55,032,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R7391:Zfp608
|
UTSW |
18 |
55,030,619 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7600:Zfp608
|
UTSW |
18 |
55,121,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R7723:Zfp608
|
UTSW |
18 |
55,030,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R8054:Zfp608
|
UTSW |
18 |
55,032,618 (GRCm39) |
missense |
probably benign |
0.28 |
R8236:Zfp608
|
UTSW |
18 |
55,032,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Zfp608
|
UTSW |
18 |
55,030,821 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8732:Zfp608
|
UTSW |
18 |
55,121,072 (GRCm39) |
missense |
probably benign |
0.06 |
R8781:Zfp608
|
UTSW |
18 |
55,031,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R8851:Zfp608
|
UTSW |
18 |
55,032,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8940:Zfp608
|
UTSW |
18 |
55,033,301 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9051:Zfp608
|
UTSW |
18 |
55,032,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R9091:Zfp608
|
UTSW |
18 |
55,032,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9092:Zfp608
|
UTSW |
18 |
55,031,648 (GRCm39) |
missense |
probably benign |
0.03 |
R9236:Zfp608
|
UTSW |
18 |
55,032,354 (GRCm39) |
missense |
probably benign |
0.39 |
R9270:Zfp608
|
UTSW |
18 |
55,032,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9283:Zfp608
|
UTSW |
18 |
55,030,913 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9288:Zfp608
|
UTSW |
18 |
55,033,341 (GRCm39) |
missense |
probably benign |
0.39 |
R9463:Zfp608
|
UTSW |
18 |
55,030,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGCCCTCAGCATGAAGACGC -3'
(R):5'- CTTCACCTTCCTGGACACGAGAAC -3'
Sequencing Primer
(F):5'- TTCCCCTCACAGATGGACAG -3'
(R):5'- TTTTGGCACCATGAAAGCACTC -3'
|
Posted On |
2014-04-13 |