Incidental Mutation 'R1669:Zfp608'
ID |
187506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp608
|
Ensembl Gene |
ENSMUSG00000052713 |
Gene Name |
zinc finger protein 608 |
Synonyms |
4932417D18Rik |
MMRRC Submission |
039705-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.917)
|
Stock # |
R1669 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
55021120-55125627 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55120811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 259
(V259I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
AlphaFold |
Q56A10 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064763
AA Change: V259I
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000068192 Gene: ENSMUSG00000052713 AA Change: V259I
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181538
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181829
|
Meta Mutation Damage Score |
0.0620 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (85/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano10 |
A |
C |
9: 122,086,249 (GRCm39) |
L258R |
possibly damaging |
Het |
Ap3d1 |
A |
G |
10: 80,546,670 (GRCm39) |
|
probably benign |
Het |
Aplp2 |
G |
T |
9: 31,079,029 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
T |
C |
2: 113,672,257 (GRCm39) |
D237G |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,771,239 (GRCm39) |
H1182L |
possibly damaging |
Het |
Ash1l |
G |
A |
3: 88,974,549 (GRCm39) |
|
probably null |
Het |
Bicdl1 |
C |
A |
5: 115,794,075 (GRCm39) |
V224L |
possibly damaging |
Het |
Cacna1h |
C |
A |
17: 25,602,445 (GRCm39) |
V1422L |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,678,153 (GRCm39) |
E365G |
probably benign |
Het |
Cd180 |
C |
T |
13: 102,841,998 (GRCm39) |
T348I |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,137,439 (GRCm39) |
|
probably null |
Het |
Chaf1a |
C |
A |
17: 56,370,339 (GRCm39) |
D601E |
probably benign |
Het |
Coprs |
C |
T |
8: 13,935,704 (GRCm39) |
W12* |
probably null |
Het |
Cpsf3 |
T |
A |
12: 21,355,332 (GRCm39) |
M424K |
probably damaging |
Het |
Cxcl13 |
T |
A |
5: 96,106,600 (GRCm39) |
N57K |
probably damaging |
Het |
Dact1 |
C |
T |
12: 71,365,547 (GRCm39) |
T776M |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,228,561 (GRCm39) |
K438E |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,566,548 (GRCm39) |
S992T |
probably damaging |
Het |
Dusp11 |
A |
T |
6: 85,927,008 (GRCm39) |
H202Q |
probably benign |
Het |
Ezr |
T |
C |
17: 7,006,712 (GRCm39) |
E584G |
probably damaging |
Het |
F830104G03Rik |
A |
G |
3: 56,797,998 (GRCm39) |
V6A |
unknown |
Het |
Fam227a |
G |
A |
15: 79,504,878 (GRCm39) |
|
probably null |
Het |
Gapvd1 |
T |
G |
2: 34,620,694 (GRCm39) |
|
probably null |
Het |
Gm10267 |
T |
C |
18: 44,290,367 (GRCm39) |
R47G |
probably damaging |
Het |
Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,890,110 (GRCm39) |
L133* |
probably null |
Het |
Hpcal4 |
T |
C |
4: 123,082,869 (GRCm39) |
F72L |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,882,156 (GRCm39) |
R825H |
probably benign |
Het |
Kcnh8 |
T |
A |
17: 53,200,996 (GRCm39) |
Y477N |
probably damaging |
Het |
Kctd1 |
T |
C |
18: 15,195,517 (GRCm39) |
N369D |
possibly damaging |
Het |
Kdm1b |
C |
T |
13: 47,222,024 (GRCm39) |
R488C |
probably damaging |
Het |
Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
Klra8 |
A |
T |
6: 130,092,592 (GRCm39) |
C236* |
probably null |
Het |
Lca5l |
T |
C |
16: 95,961,008 (GRCm39) |
R485G |
possibly damaging |
Het |
Lrrc2 |
A |
G |
9: 110,810,718 (GRCm39) |
T363A |
probably damaging |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,818,672 (GRCm39) |
G1314D |
possibly damaging |
Het |
Mmp10 |
A |
T |
9: 7,505,526 (GRCm39) |
|
probably null |
Het |
Mmp13 |
A |
G |
9: 7,277,926 (GRCm39) |
D273G |
probably benign |
Het |
Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
Msh4 |
C |
T |
3: 153,582,357 (GRCm39) |
R417Q |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,465,270 (GRCm39) |
V790E |
probably damaging |
Het |
Nlgn1 |
C |
A |
3: 25,490,298 (GRCm39) |
L476F |
probably damaging |
Het |
Nox4 |
C |
A |
7: 86,945,097 (GRCm39) |
Q118K |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,749,495 (GRCm39) |
T131A |
possibly damaging |
Het |
Oog3 |
C |
A |
4: 143,885,008 (GRCm39) |
R309S |
probably benign |
Het |
Oosp3 |
C |
T |
19: 11,678,378 (GRCm39) |
|
probably benign |
Het |
Or10a3 |
T |
A |
7: 108,479,920 (GRCm39) |
T298S |
probably benign |
Het |
Or2a7 |
T |
A |
6: 43,151,755 (GRCm39) |
S278R |
probably damaging |
Het |
Or2w6 |
A |
T |
13: 21,843,456 (GRCm39) |
S12R |
possibly damaging |
Het |
Or4c126 |
T |
A |
2: 89,824,144 (GRCm39) |
|
probably null |
Het |
Or51a42 |
A |
T |
7: 103,708,516 (GRCm39) |
S98T |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,878,652 (GRCm39) |
I164K |
possibly damaging |
Het |
P2ry6 |
A |
G |
7: 100,587,630 (GRCm39) |
V243A |
probably damaging |
Het |
Pgc |
C |
A |
17: 48,044,715 (GRCm39) |
P321T |
probably damaging |
Het |
Pramel22 |
T |
G |
4: 143,380,916 (GRCm39) |
E369A |
possibly damaging |
Het |
Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,551,922 (GRCm39) |
S2043T |
probably damaging |
Het |
Rasal3 |
T |
C |
17: 32,622,072 (GRCm39) |
N96D |
possibly damaging |
Het |
Rnf4 |
T |
C |
5: 34,508,624 (GRCm39) |
F162S |
probably damaging |
Het |
Ros1 |
A |
T |
10: 52,037,907 (GRCm39) |
N421K |
probably damaging |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,753 (GRCm39) |
D395G |
probably benign |
Het |
Scn8a |
T |
G |
15: 100,909,001 (GRCm39) |
V823G |
probably damaging |
Het |
Sema3d |
T |
A |
5: 12,558,051 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,037,307 (GRCm39) |
I501T |
probably damaging |
Het |
Slc12a7 |
C |
T |
13: 73,943,232 (GRCm39) |
T382I |
probably benign |
Het |
Slc16a12 |
T |
A |
19: 34,657,781 (GRCm39) |
I41L |
probably benign |
Het |
Slc1a1 |
C |
A |
19: 28,889,194 (GRCm39) |
T489K |
probably benign |
Het |
Slc24a3 |
C |
T |
2: 145,455,512 (GRCm39) |
P467L |
probably damaging |
Het |
Slco1a8 |
T |
A |
6: 141,933,415 (GRCm39) |
I457F |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,524,908 (GRCm39) |
Y138F |
possibly damaging |
Het |
Sorcs1 |
A |
C |
19: 50,463,860 (GRCm39) |
Y197D |
probably damaging |
Het |
Sppl2a |
T |
A |
2: 126,759,714 (GRCm39) |
|
probably benign |
Het |
Srgap3 |
G |
A |
6: 112,699,865 (GRCm39) |
P1038S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,554,807 (GRCm39) |
E30699G |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,283,206 (GRCm39) |
M300K |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,624,869 (GRCm39) |
S1873P |
possibly damaging |
Het |
Wrap73 |
A |
G |
4: 154,240,588 (GRCm39) |
D360G |
probably damaging |
Het |
Zfp366 |
T |
C |
13: 99,366,069 (GRCm39) |
M410T |
probably damaging |
Het |
Zfp69 |
C |
T |
4: 120,804,695 (GRCm39) |
|
probably benign |
Het |
Zfp995 |
T |
C |
17: 22,098,945 (GRCm39) |
T430A |
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 |
R1512:Zfp608
|
UTSW |
18 |
55,079,738 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GCTCTTACAAGAAGGCAAAAGGCAC -3'
(R):5'- AATTCCCGAGATCAGCAGCACTG -3'
Sequencing Primer
(F):5'- ATCTGCACTCGGGATAGCATC -3'
(R):5'- TCAGCAGCACTGGCAAG -3'
|
Posted On |
2014-05-09 |