Incidental Mutation 'R8054:Zfp608'
ID |
619294 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp608
|
Ensembl Gene |
ENSMUSG00000052713 |
Gene Name |
zinc finger protein 608 |
Synonyms |
4932417D18Rik |
MMRRC Submission |
067491-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.899)
|
Stock # |
R8054 (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 A
at 55032618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 441
(A441S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
AlphaFold |
Q56A10 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064763
AA Change: A441S
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000068192 Gene: ENSMUSG00000052713 AA Change: A441S
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: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,874,272 (GRCm39) |
N399S |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,088,707 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
A |
G |
5: 90,438,914 (GRCm39) |
I483T |
probably benign |
Het |
Arl13b |
T |
C |
16: 62,626,960 (GRCm39) |
D247G |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,459,969 (GRCm39) |
I415V |
probably benign |
Het |
Brpf3 |
C |
A |
17: 29,055,571 (GRCm39) |
S1173R |
probably damaging |
Het |
Cby2 |
A |
G |
14: 75,821,339 (GRCm39) |
Y129H |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,583,215 (GRCm39) |
L966P |
unknown |
Het |
Cfap61 |
A |
G |
2: 145,815,438 (GRCm39) |
N249S |
probably damaging |
Het |
Clip4 |
T |
A |
17: 72,141,268 (GRCm39) |
Y541N |
possibly damaging |
Het |
Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
Cyp2c23 |
T |
G |
19: 43,995,555 (GRCm39) |
E404A |
probably damaging |
Het |
Cyp2e1 |
A |
G |
7: 140,350,871 (GRCm39) |
E281G |
possibly damaging |
Het |
Cyp2r1 |
T |
A |
7: 114,151,319 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
T |
A |
2: 103,985,390 (GRCm39) |
I1226F |
possibly damaging |
Het |
Dbx1 |
A |
T |
7: 49,282,498 (GRCm39) |
W236R |
probably damaging |
Het |
Dcp2 |
T |
G |
18: 44,538,774 (GRCm39) |
N251K |
probably benign |
Het |
Disp1 |
A |
T |
1: 182,869,812 (GRCm39) |
Y869* |
probably null |
Het |
Dnajc8 |
T |
A |
4: 132,272,068 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,621,226 (GRCm39) |
N822D |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,592,243 (GRCm39) |
|
probably null |
Het |
Eml3 |
A |
T |
19: 8,916,414 (GRCm39) |
T670S |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,187,938 (GRCm39) |
D1530E |
possibly damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Hsd3b3 |
A |
T |
3: 98,649,331 (GRCm39) |
Y331N |
probably damaging |
Het |
Ino80d |
T |
C |
1: 63,097,837 (GRCm39) |
R791G |
possibly damaging |
Het |
Itprid1 |
A |
T |
6: 55,953,424 (GRCm39) |
K913N |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,709,441 (GRCm39) |
R523G |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,741,806 (GRCm39) |
D4451E |
unknown |
Het |
Lax1 |
T |
C |
1: 133,611,345 (GRCm39) |
T76A |
probably benign |
Het |
Map4k1 |
A |
G |
7: 28,689,181 (GRCm39) |
|
probably benign |
Het |
Mcu |
G |
A |
10: 59,290,817 (GRCm39) |
T121M |
probably damaging |
Het |
Mepce |
T |
A |
5: 137,783,004 (GRCm39) |
K441* |
probably null |
Het |
Mettl21e |
C |
A |
1: 44,245,815 (GRCm39) |
V144F |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,231,748 (GRCm39) |
S1049C |
probably damaging |
Het |
Myh14 |
C |
T |
7: 44,274,551 (GRCm39) |
V1246M |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,464,329 (GRCm39) |
Q1128L |
probably benign |
Het |
Nat8f2 |
T |
C |
6: 85,844,754 (GRCm39) |
S203G |
probably benign |
Het |
Npas2 |
A |
G |
1: 39,326,652 (GRCm39) |
T46A |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,675,956 (GRCm39) |
|
probably benign |
Het |
Oplah |
C |
T |
15: 76,190,457 (GRCm39) |
R102H |
probably benign |
Het |
Or1x6 |
T |
A |
11: 50,939,090 (GRCm39) |
I52N |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
Or5g29 |
A |
T |
2: 85,421,184 (GRCm39) |
Q100L |
probably damaging |
Het |
Or6d13 |
A |
G |
6: 116,517,960 (GRCm39) |
H182R |
probably damaging |
Het |
Or8g20 |
C |
A |
9: 39,396,033 (GRCm39) |
C172F |
probably damaging |
Het |
Osgep |
C |
T |
14: 51,162,128 (GRCm39) |
|
probably benign |
Het |
Pam |
A |
T |
1: 97,768,114 (GRCm39) |
D705E |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,373,008 (GRCm39) |
N1284K |
probably damaging |
Het |
Plekhg2 |
A |
G |
7: 28,064,741 (GRCm39) |
F407S |
probably damaging |
Het |
Pygl |
A |
G |
12: 70,274,113 (GRCm39) |
|
probably null |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
Rhobtb1 |
A |
G |
10: 69,084,720 (GRCm39) |
N37S |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,424,972 (GRCm39) |
D213V |
probably damaging |
Het |
Skint11 |
A |
T |
4: 114,101,806 (GRCm39) |
Q273L |
possibly damaging |
Het |
Skint7 |
A |
T |
4: 111,839,426 (GRCm39) |
H240L |
probably benign |
Het |
Slc12a2 |
C |
T |
18: 58,054,944 (GRCm39) |
Q862* |
probably null |
Het |
Smox |
A |
G |
2: 131,364,100 (GRCm39) |
S468G |
probably benign |
Het |
Spc25 |
A |
G |
2: 69,035,257 (GRCm39) |
S50P |
probably damaging |
Het |
Srrm1 |
A |
T |
4: 135,052,326 (GRCm39) |
S683T |
unknown |
Het |
Syne1 |
T |
C |
10: 5,220,970 (GRCm39) |
E3103G |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,378,553 (GRCm39) |
|
probably benign |
Het |
Tent4b |
T |
A |
8: 88,974,186 (GRCm39) |
I294N |
probably damaging |
Het |
Tmem123 |
T |
C |
9: 7,791,064 (GRCm39) |
S122P |
possibly damaging |
Het |
Trav18 |
A |
T |
14: 54,068,572 (GRCm39) |
K4I |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,583,420 (GRCm39) |
S394G |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,195,413 (GRCm39) |
S1212C |
unknown |
Het |
Usp34 |
G |
A |
11: 23,311,295 (GRCm39) |
R442Q |
|
Het |
Usp43 |
G |
A |
11: 67,782,284 (GRCm39) |
P378L |
probably damaging |
Het |
Vmn1r212 |
A |
G |
13: 23,067,935 (GRCm39) |
F133L |
probably benign |
Het |
Vmn1r213 |
A |
G |
13: 23,195,910 (GRCm39) |
I164M |
possibly damaging |
Het |
Vmn2r19 |
C |
T |
6: 123,292,998 (GRCm39) |
P347S |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,355,000 (GRCm39) |
V1280E |
possibly damaging |
Het |
Zfp317 |
T |
C |
9: 19,553,265 (GRCm39) |
S13P |
probably benign |
Het |
Zup1 |
T |
C |
10: 33,816,248 (GRCm39) |
D232G |
probably 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 |
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'- TTCTGGAATTCGTGCGCACTC -3'
(R):5'- CAGTGGGTCCTCTTTGCTAC -3'
Sequencing Primer
(F):5'- TCAGAGCTCGAGTTCAGATCC -3'
(R):5'- GCTACCTTGTGTCCCTGAG -3'
|
Posted On |
2020-01-23 |