Incidental Mutation 'R4975:Zfp608'
ID |
382608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp608
|
Ensembl Gene |
ENSMUSG00000052713 |
Gene Name |
zinc finger protein 608 |
Synonyms |
4932417D18Rik |
MMRRC Submission |
042570-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.917)
|
Stock # |
R4975 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
55021120-55125627 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 55022962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 1485
(T1485P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
AlphaFold |
Q56A10 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064763
AA Change: T1485P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068192 Gene: ENSMUSG00000052713 AA Change: T1485P
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 |
0.2266 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.8%
|
Validation Efficiency |
100% (81/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
C |
3: 59,840,161 (GRCm39) |
T78P |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,800,291 (GRCm39) |
K497R |
probably damaging |
Het |
Aldh1a3 |
C |
T |
7: 66,068,927 (GRCm39) |
R19Q |
possibly damaging |
Het |
Bmp2k |
A |
G |
5: 97,234,944 (GRCm39) |
|
probably benign |
Het |
Ccni |
A |
T |
5: 93,335,553 (GRCm39) |
L195Q |
possibly damaging |
Het |
Cdkl4 |
C |
A |
17: 80,832,764 (GRCm39) |
G327* |
probably null |
Het |
Cdsn |
T |
C |
17: 35,866,326 (GRCm39) |
V285A |
possibly damaging |
Het |
Cfap20dc |
A |
G |
14: 8,518,736 (GRCm38) |
V240A |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,943,540 (GRCm39) |
E352G |
possibly damaging |
Het |
Clasp2 |
T |
A |
9: 113,732,984 (GRCm39) |
I961N |
probably damaging |
Het |
Cpsf2 |
A |
G |
12: 101,949,752 (GRCm39) |
Q128R |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,406,525 (GRCm39) |
Q1055H |
possibly damaging |
Het |
Cyld |
T |
G |
8: 89,433,860 (GRCm39) |
F216L |
probably benign |
Het |
Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
Disp3 |
C |
T |
4: 148,328,673 (GRCm39) |
R1097H |
possibly damaging |
Het |
Dmap1 |
T |
C |
4: 117,538,233 (GRCm39) |
D67G |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
Ergic3 |
T |
C |
2: 155,859,638 (GRCm39) |
|
probably null |
Het |
Fkbp14 |
A |
G |
6: 54,569,943 (GRCm39) |
I29T |
probably benign |
Het |
Gm4845 |
T |
A |
1: 141,184,623 (GRCm39) |
|
noncoding transcript |
Het |
Gm7135 |
A |
T |
1: 97,281,801 (GRCm39) |
|
noncoding transcript |
Het |
Gpbar1 |
TACCAC |
TAC |
1: 74,318,704 (GRCm39) |
|
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,424,481 (GRCm39) |
I57F |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,809,280 (GRCm39) |
V1722A |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,283,037 (GRCm39) |
D1971G |
possibly damaging |
Het |
Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
Itih4 |
T |
A |
14: 30,614,244 (GRCm39) |
I398N |
probably damaging |
Het |
Kansl1 |
A |
T |
11: 104,226,390 (GRCm39) |
S922R |
probably damaging |
Het |
Krt27 |
G |
A |
11: 99,237,722 (GRCm39) |
Q339* |
probably null |
Het |
Lama1 |
C |
A |
17: 68,045,829 (GRCm39) |
L245I |
possibly damaging |
Het |
Lmo2 |
T |
A |
2: 103,806,488 (GRCm39) |
C60* |
probably null |
Het |
Med16 |
A |
G |
10: 79,738,839 (GRCm39) |
S316P |
possibly damaging |
Het |
Mia3 |
T |
C |
1: 183,111,970 (GRCm39) |
N529S |
probably benign |
Het |
Msi2 |
T |
C |
11: 88,285,481 (GRCm39) |
K188E |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,209,128 (GRCm39) |
K1870R |
probably damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,167,216 (GRCm39) |
V347A |
probably benign |
Het |
Nol6 |
C |
T |
4: 41,120,167 (GRCm39) |
R487H |
probably benign |
Het |
Or4c117 |
T |
C |
2: 88,955,682 (GRCm39) |
Y131C |
probably damaging |
Het |
Or4k41 |
T |
C |
2: 111,280,028 (GRCm39) |
I181T |
probably benign |
Het |
Or52h1 |
A |
T |
7: 103,828,736 (GRCm39) |
V293D |
probably damaging |
Het |
Or5d18 |
T |
C |
2: 87,865,005 (GRCm39) |
I159M |
probably benign |
Het |
Or6c205 |
T |
C |
10: 129,087,141 (GRCm39) |
I246T |
probably damaging |
Het |
Otog |
T |
C |
7: 45,937,415 (GRCm39) |
V1708A |
probably benign |
Het |
Ptprv |
A |
G |
1: 135,046,586 (GRCm39) |
|
noncoding transcript |
Het |
Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
Rab11fip4 |
A |
G |
11: 79,510,497 (GRCm39) |
R68G |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,277,428 (GRCm39) |
D264G |
possibly damaging |
Het |
Reln |
A |
G |
5: 22,165,424 (GRCm39) |
S2045P |
probably damaging |
Het |
Rgs22 |
A |
C |
15: 36,055,022 (GRCm39) |
Y593* |
probably null |
Het |
Ror2 |
C |
T |
13: 53,285,954 (GRCm39) |
D87N |
probably damaging |
Het |
Rps6ka4 |
A |
T |
19: 6,817,678 (GRCm39) |
|
probably null |
Het |
Rttn |
T |
A |
18: 89,082,209 (GRCm39) |
|
probably null |
Het |
Runx3 |
A |
G |
4: 134,898,446 (GRCm39) |
T206A |
probably benign |
Het |
Setx |
A |
G |
2: 29,054,562 (GRCm39) |
E2158G |
probably damaging |
Het |
Siglece |
C |
T |
7: 43,308,396 (GRCm39) |
|
probably null |
Het |
Slco1a8 |
T |
C |
6: 141,926,599 (GRCm39) |
S576G |
probably benign |
Het |
Snx1 |
A |
T |
9: 66,012,187 (GRCm39) |
L96* |
probably null |
Het |
Srrm1 |
A |
G |
4: 135,074,031 (GRCm39) |
|
probably benign |
Het |
Stk39 |
A |
T |
2: 68,051,336 (GRCm39) |
|
probably benign |
Het |
Sun3 |
G |
A |
11: 8,988,311 (GRCm39) |
R4* |
probably null |
Het |
Svil |
A |
G |
18: 5,054,025 (GRCm39) |
K347E |
possibly damaging |
Het |
Sybu |
T |
A |
15: 44,541,063 (GRCm39) |
E333V |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,192,520 (GRCm39) |
|
probably benign |
Het |
Tfip11 |
G |
T |
5: 112,483,613 (GRCm39) |
|
probably benign |
Het |
Tmc1 |
A |
C |
19: 20,884,319 (GRCm39) |
D40E |
probably damaging |
Het |
Twf2 |
G |
T |
9: 106,089,539 (GRCm39) |
G121W |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,775,636 (GRCm39) |
V50A |
probably damaging |
Het |
Vps8 |
T |
A |
16: 21,285,219 (GRCm39) |
L400Q |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,266,565 (GRCm39) |
Y861F |
probably damaging |
Het |
Zfp619 |
T |
G |
7: 39,186,504 (GRCm39) |
S845A |
possibly damaging |
Het |
Zscan4d |
A |
T |
7: 10,899,274 (GRCm39) |
M1K |
probably null |
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 |
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'- CCAAGTTTCTCATCTGCAAAGCC -3'
(R):5'- AGGCTGCTATCCTCTGAGTAGC -3'
Sequencing Primer
(F):5'- AAGCCTATATTCTCTTCCGTGAATAC -3'
(R):5'- CTGAGTAGCTATTTAAAAAGCCACC -3'
|
Posted On |
2016-04-27 |