Incidental Mutation 'R5992:Zfp608'
| ID |
480924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp608
|
| Ensembl Gene |
ENSMUSG00000052713 |
| Gene Name |
zinc finger protein 608 |
| Synonyms |
4932417D18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R5992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
55021120-55125627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55032320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 540
(T540I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
| AlphaFold |
Q56A10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064763
AA Change: T540I
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068192
Gene: ENSMUSG00000052713
AA Change: T540I
| 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: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,819,549 (GRCm39) |
L188* |
probably null |
Het |
| Acod1 |
C |
T |
14: 103,292,471 (GRCm39) |
R332C |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,839,194 (GRCm39) |
K852M |
probably damaging |
Het |
| Adm |
A |
T |
7: 110,226,903 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,263,837 (GRCm39) |
S286G |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,753,300 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
T |
2: 113,973,530 (GRCm39) |
Y427* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,045,231 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
T |
A |
9: 111,972,553 (GRCm39) |
R259* |
probably null |
Het |
| Cep290 |
C |
T |
10: 100,379,183 (GRCm39) |
A55V |
possibly damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Clcn2 |
T |
C |
16: 20,532,404 (GRCm39) |
E68G |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,473,732 (GRCm39) |
H699L |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,459,681 (GRCm39) |
Y446H |
probably damaging |
Het |
| Dcst1 |
T |
A |
3: 89,259,883 (GRCm39) |
E613V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,421,507 (GRCm39) |
C74R |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,418,496 (GRCm39) |
K128T |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,326,317 (GRCm39) |
S893R |
unknown |
Het |
| Dtl |
A |
T |
1: 191,300,684 (GRCm39) |
|
probably null |
Het |
| F2rl1 |
T |
A |
13: 95,650,778 (GRCm39) |
S35C |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,819,959 (GRCm39) |
Y2562F |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,852,044 (GRCm39) |
D42V |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm21190 |
T |
A |
5: 15,729,849 (GRCm39) |
E256D |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 20,919,346 (GRCm39) |
S66P |
probably damaging |
Het |
| Hal |
T |
G |
10: 93,326,778 (GRCm39) |
L138R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,207,284 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,504,618 (GRCm39) |
M2450K |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,845,234 (GRCm39) |
T94A |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,411,320 (GRCm39) |
V696A |
probably damaging |
Het |
| Magi2 |
G |
A |
5: 19,432,289 (GRCm39) |
M1I |
probably null |
Het |
| Marchf7 |
C |
A |
2: 60,075,564 (GRCm39) |
N674K |
probably benign |
Het |
| Mfap1b |
A |
G |
2: 121,300,776 (GRCm39) |
V34A |
probably benign |
Het |
| Mob3b |
G |
A |
4: 35,084,069 (GRCm39) |
S40L |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,063,987 (GRCm39) |
V386E |
probably damaging |
Het |
| Nfic |
C |
T |
10: 81,256,581 (GRCm39) |
A19T |
probably damaging |
Het |
| Nfs1 |
G |
A |
2: 155,976,373 (GRCm39) |
R174W |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,092,298 (GRCm39) |
S670R |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,930,935 (GRCm39) |
I754V |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,380,201 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
T |
A |
2: 89,237,223 (GRCm39) |
M67L |
probably benign |
Het |
| Or4c1 |
T |
A |
2: 89,133,703 (GRCm39) |
T78S |
possibly damaging |
Het |
| Or51a6 |
G |
T |
7: 102,604,216 (GRCm39) |
N197K |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,502 (GRCm39) |
E524G |
probably damaging |
Het |
| Phlpp1 |
A |
T |
1: 106,246,723 (GRCm39) |
R638* |
probably null |
Het |
| Pkmyt1 |
G |
C |
17: 23,954,300 (GRCm39) |
W360S |
probably benign |
Het |
| Plxnd1 |
C |
A |
6: 115,944,748 (GRCm39) |
|
probably null |
Het |
| Poldip3 |
A |
T |
15: 83,013,430 (GRCm39) |
N322K |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,478,695 (GRCm39) |
I419L |
probably benign |
Het |
| Prss36 |
A |
T |
7: 127,544,002 (GRCm39) |
V123E |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,703 (GRCm39) |
I46T |
probably damaging |
Het |
| Rac1 |
T |
C |
5: 143,492,753 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,220 (GRCm39) |
Y36C |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,218,926 (GRCm39) |
F951L |
unknown |
Het |
| Rps6ka5 |
G |
T |
12: 100,541,509 (GRCm39) |
P417T |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,767,062 (GRCm39) |
W2967R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,442,992 (GRCm39) |
S1679R |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,165,800 (GRCm39) |
W153G |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,373,726 (GRCm39) |
Y114C |
probably damaging |
Het |
| Son |
T |
C |
16: 91,455,792 (GRCm39) |
M1513T |
probably benign |
Het |
| Spag8 |
C |
T |
4: 43,651,534 (GRCm39) |
V447M |
probably benign |
Het |
| St3gal2 |
T |
A |
8: 111,696,185 (GRCm39) |
Y257N |
probably damaging |
Het |
| Tars1 |
A |
T |
15: 11,397,282 (GRCm39) |
D40E |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,851 (GRCm39) |
H158R |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 52,156,392 (GRCm39) |
V50L |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,746,994 (GRCm39) |
S1503P |
probably benign |
Het |
| Ttll4 |
T |
G |
1: 74,724,550 (GRCm39) |
S573R |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,249,747 (GRCm39) |
N841K |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,167,068 (GRCm39) |
C688S |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,266,369 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
G |
A |
6: 48,596,750 (GRCm39) |
R208Q |
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 |
|
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'- AGGCTTCCTCACAGTCTGAG -3'
(R):5'- CGACAAGTGACCTGGAAATGC -3'
Sequencing Primer
(F):5'- ACAGTCTGAGATCTTGTCCTCG -3'
(R):5'- TCAGCTTCACCGAGTCCAGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation