Incidental Mutation 'R2520:Zfp608'
| ID |
254425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp608
|
| Ensembl Gene |
ENSMUSG00000052713 |
| Gene Name |
zinc finger protein 608 |
| Synonyms |
4932417D18Rik |
| MMRRC Submission |
040424-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R2520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
55021120-55125627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55121578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 3
(V3E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064763]
|
| AlphaFold |
Q56A10 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064763
AA Change: V3E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068192
Gene: ENSMUSG00000052713
AA Change: V3E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181829
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
T |
5: 3,625,773 (GRCm39) |
N70I |
probably damaging |
Het |
| 4930503B20Rik |
G |
A |
3: 146,356,261 (GRCm39) |
R216W |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,218,091 (GRCm39) |
|
probably null |
Het |
| Arhgdia |
A |
T |
11: 120,470,852 (GRCm39) |
V72E |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,077,207 (GRCm39) |
K525* |
probably null |
Het |
| Bckdha |
A |
C |
7: 25,341,124 (GRCm39) |
I79S |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,494,893 (GRCm39) |
|
probably null |
Het |
| Cers5 |
G |
A |
15: 99,634,262 (GRCm39) |
T362I |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,177,942 (GRCm39) |
F86I |
probably damaging |
Het |
| Crispld1 |
G |
A |
1: 17,821,000 (GRCm39) |
D347N |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,929,145 (GRCm39) |
T352S |
probably benign |
Het |
| Daam2 |
G |
A |
17: 49,787,785 (GRCm39) |
Q443* |
probably null |
Het |
| Dcbld1 |
A |
G |
10: 52,195,641 (GRCm39) |
D283G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,513,868 (GRCm39) |
E82G |
probably damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,518,074 (GRCm39) |
D42G |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,741,993 (GRCm39) |
H1130R |
probably damaging |
Het |
| Enox1 |
A |
T |
14: 77,819,839 (GRCm39) |
Y198F |
probably damaging |
Het |
| Epop |
A |
G |
11: 97,519,554 (GRCm39) |
L185P |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,868,527 (GRCm39) |
C1485S |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,253,806 (GRCm39) |
S571T |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,414 (GRCm39) |
I196F |
probably null |
Het |
| Gm8237 |
T |
A |
14: 5,863,642 (GRCm38) |
I8L |
possibly damaging |
Het |
| Gria2 |
A |
C |
3: 80,614,269 (GRCm39) |
N590K |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,589,633 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,619,398 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,083,194 (GRCm39) |
D167E |
probably damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,881 (GRCm39) |
S374G |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,301,202 (GRCm39) |
G307S |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,047 (GRCm39) |
F198S |
probably damaging |
Het |
| Lyz2 |
T |
A |
10: 117,114,558 (GRCm39) |
I124F |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,020 (GRCm39) |
C220S |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,204,931 (GRCm39) |
K1595* |
probably null |
Het |
| Naga |
G |
T |
15: 82,214,295 (GRCm39) |
D405E |
probably benign |
Het |
| Nanog |
T |
A |
6: 122,690,418 (GRCm39) |
N249K |
probably benign |
Het |
| Nhlh1 |
G |
T |
1: 171,881,570 (GRCm39) |
R99S |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,202,090 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,354 (GRCm39) |
E79G |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,746 (GRCm39) |
C160* |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or52n2 |
T |
A |
7: 104,542,080 (GRCm39) |
I252F |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,267,464 (GRCm39) |
D592G |
probably damaging |
Het |
| Prps1l3 |
T |
C |
12: 57,285,369 (GRCm39) |
V53A |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,481,826 (GRCm39) |
V853G |
probably damaging |
Het |
| Pycard |
A |
G |
7: 127,592,677 (GRCm39) |
I50T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
T |
A |
16: 32,097,221 (GRCm39) |
S99T |
probably benign |
Het |
| Rph3al |
A |
G |
11: 75,797,373 (GRCm39) |
S108P |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 142,071,526 (GRCm39) |
A979T |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,368 (GRCm39) |
Q216* |
probably null |
Het |
| Slc35f3 |
T |
A |
8: 127,121,312 (GRCm39) |
V391E |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,199,384 (GRCm39) |
I666F |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,167,013 (GRCm39) |
V834A |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,799,455 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,604,679 (GRCm39) |
C91S |
probably damaging |
Het |
| Tmem108 |
G |
T |
9: 103,366,481 (GRCm39) |
N503K |
possibly damaging |
Het |
| Trbv28 |
A |
G |
6: 41,248,541 (GRCm39) |
T24A |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,446 (GRCm39) |
E178G |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,329,696 (GRCm39) |
H546Q |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,523,799 (GRCm39) |
I153V |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,899,964 (GRCm39) |
V101A |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,926,243 (GRCm39) |
H501Q |
probably damaging |
Het |
| Upf3a |
T |
A |
8: 13,846,443 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,352,562 (GRCm39) |
S94G |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,917,573 (GRCm39) |
*381W |
probably null |
Het |
| Wdr90 |
G |
A |
17: 26,074,326 (GRCm39) |
P680S |
probably damaging |
Het |
| Zbtb22 |
G |
A |
17: 34,135,956 (GRCm39) |
V34M |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,253,689 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,295 (GRCm39) |
V295A |
probably damaging |
Het |
| Zfp748 |
G |
T |
13: 67,694,781 (GRCm39) |
D32E |
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 |
|
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 |
|
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'- GTAGAACAGGTCCCATTGGAG -3'
(R):5'- AAGCTGGACCTCGAGTGAAG -3'
Sequencing Primer
(F):5'- GGACCTCCACAATCCTTAGTGGTG -3'
(R):5'- GGAAGTGAGATCCCTGGACAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation