Incidental Mutation 'R6181:Zfp608'
ID |
488119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp608
|
Ensembl Gene |
ENSMUSG00000052713 |
Gene Name |
zinc finger protein 608 |
Synonyms |
4932417D18Rik |
MMRRC Submission |
044323-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.899)
|
Stock # |
R6181 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
55021120-55125627 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55028700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1238
(S1238P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
AlphaFold |
Q56A10 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064763
AA Change: S1238P
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000068192 Gene: ENSMUSG00000052713 AA Change: S1238P
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b7 |
A |
G |
6: 34,392,313 (GRCm39) |
H42R |
possibly damaging |
Het |
Ankrd26 |
T |
A |
6: 118,525,838 (GRCm39) |
H369L |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,323,081 (GRCm39) |
S474P |
probably damaging |
Het |
Aox3 |
T |
C |
1: 58,198,105 (GRCm39) |
V639A |
probably benign |
Het |
Arhgef2 |
T |
A |
3: 88,542,927 (GRCm39) |
V358E |
probably damaging |
Het |
Brpf3 |
A |
G |
17: 29,029,555 (GRCm39) |
Y505C |
probably damaging |
Het |
Casd1 |
A |
G |
6: 4,619,331 (GRCm39) |
T120A |
probably damaging |
Het |
Ccdc121 |
A |
G |
5: 31,645,399 (GRCm39) |
E384G |
probably damaging |
Het |
Cd200l1 |
A |
G |
16: 45,238,260 (GRCm39) |
S185P |
probably benign |
Het |
Clasp1 |
T |
G |
1: 118,347,547 (GRCm39) |
S32A |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,796,469 (GRCm39) |
L246* |
probably null |
Het |
Clcn7 |
A |
G |
17: 25,370,702 (GRCm39) |
I353V |
possibly damaging |
Het |
Cluap1 |
T |
A |
16: 3,751,608 (GRCm39) |
D322E |
probably benign |
Het |
Cmtm4 |
A |
C |
8: 105,082,997 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
C |
T |
6: 46,736,742 (GRCm39) |
P723S |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,744,096 (GRCm39) |
T84S |
possibly damaging |
Het |
Corin |
A |
G |
5: 72,529,439 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,354,687 (GRCm39) |
T1903I |
probably benign |
Het |
Cyp27b1 |
A |
C |
10: 126,886,279 (GRCm39) |
D320A |
probably damaging |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Dennd2a |
T |
C |
6: 39,462,554 (GRCm39) |
K652R |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,760,251 (GRCm39) |
M1638K |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,722,159 (GRCm39) |
S1924P |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,373,096 (GRCm39) |
S8G |
probably damaging |
Het |
Fam193a |
T |
A |
5: 34,600,884 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
T |
A |
11: 32,692,575 (GRCm39) |
N515K |
probably benign |
Het |
Gm6408 |
T |
C |
5: 146,420,582 (GRCm39) |
V154A |
possibly damaging |
Het |
Guf1 |
A |
G |
5: 69,719,059 (GRCm39) |
Y235C |
probably damaging |
Het |
Hnrnpul2 |
C |
T |
19: 8,800,596 (GRCm39) |
S224L |
possibly damaging |
Het |
Igkv8-19 |
T |
A |
6: 70,317,968 (GRCm39) |
D86V |
probably damaging |
Het |
Iqcf1 |
A |
T |
9: 106,379,174 (GRCm39) |
D61V |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,678,427 (GRCm39) |
D476G |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,270,578 (GRCm39) |
T934A |
probably benign |
Het |
Mboat7 |
A |
T |
7: 3,686,884 (GRCm39) |
Y319N |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,715,953 (GRCm39) |
E2045G |
probably damaging |
Het |
Mfsd14b |
T |
C |
13: 65,260,398 (GRCm39) |
R12G |
probably benign |
Het |
Micall2 |
T |
A |
5: 139,702,506 (GRCm39) |
T246S |
probably benign |
Het |
Npepps |
A |
G |
11: 97,132,830 (GRCm39) |
V299A |
probably damaging |
Het |
Or2y11 |
T |
A |
11: 49,443,120 (GRCm39) |
V182D |
probably damaging |
Het |
P2ry13 |
A |
G |
3: 59,117,328 (GRCm39) |
V150A |
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
Pde8b |
C |
T |
13: 95,223,316 (GRCm39) |
E313K |
probably benign |
Het |
Pgap1 |
C |
T |
1: 54,551,936 (GRCm39) |
G499R |
probably benign |
Het |
Ppp1r15b |
T |
A |
1: 133,060,261 (GRCm39) |
C259* |
probably null |
Het |
Pramel21 |
T |
A |
4: 143,342,828 (GRCm39) |
|
probably null |
Het |
Ptgs1 |
A |
G |
2: 36,141,131 (GRCm39) |
E526G |
probably damaging |
Het |
Ptpn21 |
A |
G |
12: 98,666,258 (GRCm39) |
L271P |
probably damaging |
Het |
Rbm47 |
T |
C |
5: 66,183,833 (GRCm39) |
T257A |
possibly damaging |
Het |
Rfc3 |
C |
T |
5: 151,570,985 (GRCm39) |
D104N |
probably damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,058,808 (GRCm39) |
I330T |
probably benign |
Het |
Rnf207 |
T |
C |
4: 152,393,305 (GRCm39) |
T570A |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,896,632 (GRCm39) |
|
probably null |
Het |
Sbpl |
T |
C |
17: 24,172,466 (GRCm39) |
H151R |
probably damaging |
Het |
Sstr3 |
T |
C |
15: 78,423,661 (GRCm39) |
D362G |
probably benign |
Het |
St7 |
T |
C |
6: 17,694,363 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,194,235 (GRCm39) |
M1145K |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,939,788 (GRCm39) |
V420A |
probably damaging |
Het |
Tet2 |
C |
A |
3: 133,193,520 (GRCm39) |
E305* |
probably null |
Het |
Tmem209 |
A |
T |
6: 30,505,970 (GRCm39) |
V68E |
probably damaging |
Het |
Tmod4 |
A |
T |
3: 95,035,118 (GRCm39) |
I208F |
probably damaging |
Het |
Tpo |
G |
A |
12: 30,181,884 (GRCm39) |
L4F |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,575,982 (GRCm39) |
H858R |
probably benign |
Het |
Utrn |
A |
G |
10: 12,615,200 (GRCm39) |
W324R |
probably damaging |
Het |
V1rd19 |
T |
A |
7: 23,702,640 (GRCm39) |
F35L |
possibly damaging |
Het |
Vmn1r170 |
C |
A |
7: 23,305,692 (GRCm39) |
N31K |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,452 (GRCm39) |
Y256F |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,294,019 (GRCm39) |
I702T |
possibly damaging |
Het |
Vmn2r96 |
G |
A |
17: 18,804,126 (GRCm39) |
A459T |
probably benign |
Het |
Vwf |
G |
T |
6: 125,543,109 (GRCm39) |
A132S |
probably damaging |
Het |
Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
Zfp804a |
G |
T |
2: 82,087,486 (GRCm39) |
M438I |
probably damaging |
Het |
Zgrf1 |
G |
A |
3: 127,381,590 (GRCm39) |
G246S |
probably damaging |
Het |
Zwint |
T |
C |
10: 72,492,431 (GRCm39) |
V115A |
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 |
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 |
|
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'- AGAGTCCTTCCAGTTCACCG -3'
(R):5'- GGACTGATGCTAACACCTACC -3'
Sequencing Primer
(F):5'- AATCAGGACGCTTGCCCTC -3'
(R):5'- CCTGGTCACTTCGAATGAA -3'
|
Posted On |
2017-10-10 |