Incidental Mutation 'R8940:Zfp608'
ID |
680953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp608
|
Ensembl Gene |
ENSMUSG00000052713 |
Gene Name |
zinc finger protein 608 |
Synonyms |
4932417D18Rik |
MMRRC Submission |
068780-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.899)
|
Stock # |
R8940 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
55021120-55125627 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55033301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 411
(D411N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
AlphaFold |
Q56A10 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064763
AA Change: D411N
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000068192 Gene: ENSMUSG00000052713 AA Change: D411N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
A |
T |
5: 113,241,068 (GRCm39) |
S1709T |
probably benign |
Het |
Abcc12 |
A |
G |
8: 87,287,440 (GRCm39) |
V135A |
probably benign |
Het |
Alkbh3 |
G |
T |
2: 93,838,391 (GRCm39) |
P60H |
probably damaging |
Het |
Armc3 |
A |
C |
2: 19,240,393 (GRCm39) |
Y50S |
probably damaging |
Het |
Arpc4 |
T |
C |
6: 113,362,599 (GRCm39) |
V70A |
probably benign |
Het |
Atp13a4 |
A |
G |
16: 29,273,508 (GRCm39) |
|
probably null |
Het |
Bco1 |
A |
T |
8: 117,857,347 (GRCm39) |
Y438F |
probably benign |
Het |
Cacna1b |
C |
A |
2: 24,653,084 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
C |
T |
4: 11,783,226 (GRCm39) |
S189L |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,621,072 (GRCm39) |
T312A |
probably benign |
Het |
Crym |
T |
A |
7: 119,794,703 (GRCm39) |
N172I |
probably benign |
Het |
Depdc7 |
A |
G |
2: 104,554,913 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,363,854 (GRCm39) |
|
probably benign |
Het |
Dntt |
T |
A |
19: 41,046,990 (GRCm39) |
|
probably benign |
Het |
Elovl5 |
T |
A |
9: 77,890,007 (GRCm39) |
S273T |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,147,636 (GRCm39) |
L3869M |
possibly damaging |
Het |
Garnl3 |
T |
C |
2: 32,895,241 (GRCm39) |
|
probably null |
Het |
Gldc |
C |
T |
19: 30,128,884 (GRCm39) |
M196I |
probably benign |
Het |
Gm17078 |
C |
T |
14: 51,846,342 (GRCm39) |
V120M |
probably damaging |
Het |
Gm5157 |
G |
A |
7: 20,918,685 (GRCm39) |
S286F |
probably damaging |
Het |
Gm6337 |
C |
T |
14: 6,055,308 (GRCm38) |
C187Y |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,736,759 (GRCm39) |
D2002G |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,228,675 (GRCm39) |
N1160S |
probably damaging |
Het |
Gulo |
A |
G |
14: 66,235,040 (GRCm39) |
V227A |
probably benign |
Het |
Hlcs |
G |
A |
16: 94,032,085 (GRCm39) |
A31V |
probably benign |
Het |
Hs1bp3 |
T |
C |
12: 8,391,980 (GRCm39) |
S361P |
probably benign |
Het |
Ifi44 |
G |
A |
3: 151,454,946 (GRCm39) |
P93L |
probably benign |
Het |
Izumo2 |
T |
A |
7: 44,362,470 (GRCm39) |
M78K |
probably benign |
Het |
Lin54 |
T |
C |
5: 100,594,530 (GRCm39) |
E545G |
probably damaging |
Het |
Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
Matr3 |
T |
G |
18: 35,705,640 (GRCm39) |
S188R |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,858,642 (GRCm39) |
H1120L |
|
Het |
Myef2l |
A |
T |
3: 10,153,406 (GRCm39) |
L58F |
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,474,802 (GRCm39) |
|
probably benign |
Het |
Nlrp3 |
G |
A |
11: 59,455,870 (GRCm39) |
V889M |
probably benign |
Het |
Or1x6 |
A |
G |
11: 50,939,455 (GRCm39) |
I174V |
probably benign |
Het |
Or2r2 |
A |
G |
6: 42,463,212 (GRCm39) |
M305T |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,528 (GRCm39) |
I215V |
probably benign |
Het |
Or5m5 |
A |
T |
2: 85,814,543 (GRCm39) |
M120L |
probably benign |
Het |
Or8d4 |
T |
A |
9: 40,038,480 (GRCm39) |
Y259F |
probably damaging |
Het |
P4hb |
A |
T |
11: 120,458,828 (GRCm39) |
D182E |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,338,620 (GRCm39) |
T926A |
possibly damaging |
Het |
Pikfyve |
T |
C |
1: 65,286,129 (GRCm39) |
S1078P |
probably benign |
Het |
Plcl2 |
A |
T |
17: 50,915,790 (GRCm39) |
D933V |
probably damaging |
Het |
Pramel7 |
G |
A |
2: 87,321,612 (GRCm39) |
T141I |
probably benign |
Het |
Prepl |
A |
T |
17: 85,376,354 (GRCm39) |
C567S |
probably damaging |
Het |
Prpsap1 |
A |
T |
11: 116,370,615 (GRCm39) |
M114K |
probably damaging |
Het |
Ptk2b |
A |
C |
14: 66,407,685 (GRCm39) |
|
probably null |
Het |
Rest |
T |
C |
5: 77,430,715 (GRCm39) |
F1045L |
possibly damaging |
Het |
Rnf19a |
A |
G |
15: 36,260,284 (GRCm39) |
C254R |
probably damaging |
Het |
Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACTGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
T |
A |
3: 95,263,483 (GRCm39) |
M8L |
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,646,956 (GRCm39) |
S536P |
probably damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,404,040 (GRCm39) |
L511P |
probably damaging |
Het |
Slc12a9 |
T |
A |
5: 137,326,755 (GRCm39) |
H234L |
probably benign |
Het |
Slc35e2 |
G |
T |
4: 155,694,542 (GRCm39) |
G30W |
probably damaging |
Het |
Slc6a15 |
T |
C |
10: 103,229,357 (GRCm39) |
V132A |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,899,875 (GRCm39) |
T486A |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,237,126 (GRCm39) |
Y235C |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,784,908 (GRCm39) |
|
probably null |
Het |
Spata21 |
T |
C |
4: 140,832,216 (GRCm39) |
L459P |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,981,452 (GRCm39) |
I706M |
probably damaging |
Het |
Tcp11 |
T |
A |
17: 28,299,204 (GRCm39) |
E17V |
probably damaging |
Het |
Tiparp |
A |
G |
3: 65,439,299 (GRCm39) |
D23G |
probably benign |
Het |
Tmem108 |
A |
G |
9: 103,377,156 (GRCm39) |
S98P |
possibly damaging |
Het |
Tmem35b |
A |
G |
4: 127,021,673 (GRCm39) |
D56G |
probably damaging |
Het |
Tnr |
G |
C |
1: 159,685,867 (GRCm39) |
G366A |
probably damaging |
Het |
Ttc3 |
A |
G |
16: 94,230,358 (GRCm39) |
S852G |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,596,938 (GRCm39) |
L19992F |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,132,505 (GRCm39) |
M909K |
probably benign |
Het |
Wdr90 |
G |
A |
17: 26,076,146 (GRCm39) |
R104C |
|
Het |
Wif1 |
A |
G |
10: 120,935,684 (GRCm39) |
H333R |
probably benign |
Het |
Zfp119a |
A |
G |
17: 56,172,551 (GRCm39) |
C431R |
probably damaging |
Het |
Zfp345 |
G |
A |
2: 150,314,277 (GRCm39) |
P420L |
probably benign |
Het |
Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
Zfp74 |
A |
G |
7: 29,634,772 (GRCm39) |
V312A |
possibly damaging |
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 |
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 |
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'- CATCTGGGTTTTACTGGCTCAG -3'
(R):5'- ACTTGAGGTCACTGAAACCAG -3'
Sequencing Primer
(F):5'- CAGGGCTGAATGGCTCATTTCTC -3'
(R):5'- CCACAGGTTTTGAAAGCCAAGTG -3'
|
Posted On |
2021-08-31 |