Incidental Mutation 'R9029:Zfp518a'
ID |
686968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp518a
|
Ensembl Gene |
ENSMUSG00000049164 |
Gene Name |
zinc finger protein 518A |
Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
MMRRC Submission |
068858-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R9029 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
40883149-40906391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40901225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 385
(V385I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
AlphaFold |
B2RRF6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050092
AA Change: V385I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055956 Gene: ENSMUSG00000049164 AA Change: V385I
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
121 |
146 |
1.38e2 |
SMART |
ZnF_C2H2
|
152 |
174 |
4.98e-1 |
SMART |
ZnF_C2H2
|
179 |
203 |
6.75e0 |
SMART |
ZnF_C2H2
|
209 |
231 |
4.34e-1 |
SMART |
ZnF_C2H2
|
236 |
258 |
1.33e-1 |
SMART |
ZnF_C2H2
|
264 |
287 |
9.44e-2 |
SMART |
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
low complexity region
|
544 |
563 |
N/A |
INTRINSIC |
low complexity region
|
671 |
680 |
N/A |
INTRINSIC |
low complexity region
|
814 |
825 |
N/A |
INTRINSIC |
low complexity region
|
1147 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1417 |
1424 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1444 |
1466 |
1.33e1 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
T |
3: 96,591,460 (GRCm39) |
K582M |
probably benign |
Het |
Catsper3 |
T |
G |
13: 55,954,147 (GRCm39) |
V305G |
probably damaging |
Het |
Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
Cpne3 |
A |
G |
4: 19,535,292 (GRCm39) |
Y247H |
possibly damaging |
Het |
Cramp1 |
C |
G |
17: 25,232,884 (GRCm39) |
A39P |
probably damaging |
Het |
Cyp26b1 |
A |
T |
6: 84,554,035 (GRCm39) |
V194E |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,402,919 (GRCm39) |
S3208P |
probably benign |
Het |
Dhrs3 |
A |
G |
4: 144,653,755 (GRCm39) |
Y292C |
probably damaging |
Het |
Eif3l |
T |
C |
15: 78,968,412 (GRCm39) |
V227A |
probably damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,174,716 (GRCm39) |
V290A |
probably damaging |
Het |
Epb41l4a |
A |
C |
18: 34,012,042 (GRCm39) |
Y159* |
probably null |
Het |
Gm5460 |
T |
A |
14: 33,739,326 (GRCm39) |
S103T |
|
Het |
Gsto1 |
A |
T |
19: 47,852,837 (GRCm39) |
Y224F |
probably benign |
Het |
Hpd |
G |
A |
5: 123,313,973 (GRCm39) |
T271M |
probably damaging |
Het |
Ift74 |
T |
C |
4: 94,506,271 (GRCm39) |
I18T |
probably benign |
Het |
Kif12 |
A |
G |
4: 63,087,704 (GRCm39) |
C260R |
probably damaging |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Luc7l3 |
A |
G |
11: 94,188,676 (GRCm39) |
V201A |
unknown |
Het |
Mcrip2 |
T |
C |
17: 26,082,989 (GRCm39) |
E146G |
probably damaging |
Het |
Mctp1 |
T |
A |
13: 76,836,741 (GRCm39) |
Y323N |
probably benign |
Het |
Micu2 |
T |
A |
14: 58,156,363 (GRCm39) |
I370F |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,061,328 (GRCm39) |
V1416E |
probably damaging |
Het |
Mup3 |
T |
C |
4: 62,003,540 (GRCm39) |
N110D |
probably damaging |
Het |
Nav3 |
C |
T |
10: 109,699,613 (GRCm39) |
D294N |
possibly damaging |
Het |
Nphs2 |
G |
A |
1: 156,140,592 (GRCm39) |
A110T |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,563 (GRCm39) |
I78T |
possibly damaging |
Het |
Or5t7 |
A |
G |
2: 86,506,831 (GRCm39) |
M282T |
probably damaging |
Het |
Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
Otof |
C |
T |
5: 30,527,419 (GRCm39) |
|
probably null |
Het |
Pgrmc2 |
G |
T |
3: 41,037,105 (GRCm39) |
R109S |
probably benign |
Het |
Plb1 |
G |
A |
5: 32,439,079 (GRCm39) |
V214I |
probably damaging |
Het |
Ppp2r5d |
C |
T |
17: 46,998,906 (GRCm39) |
S52N |
probably benign |
Het |
Rrp12 |
C |
A |
19: 41,859,718 (GRCm39) |
E1082* |
probably null |
Het |
Skint3 |
A |
G |
4: 112,111,151 (GRCm39) |
E92G |
probably damaging |
Het |
Slc12a1 |
C |
G |
2: 124,996,004 (GRCm39) |
N52K |
probably benign |
Het |
Smu1 |
A |
G |
4: 40,738,361 (GRCm39) |
Y458H |
probably damaging |
Het |
Spsb3 |
C |
T |
17: 25,110,506 (GRCm39) |
P317S |
unknown |
Het |
Ssc5d |
A |
T |
7: 4,930,919 (GRCm39) |
Q167L |
probably damaging |
Het |
Ssh2 |
T |
C |
11: 77,328,454 (GRCm39) |
V340A |
probably damaging |
Het |
Stag3 |
G |
A |
5: 138,296,296 (GRCm39) |
R453H |
probably damaging |
Het |
Svil |
T |
A |
18: 5,056,239 (GRCm39) |
F371I |
probably benign |
Het |
Tas2r140 |
A |
C |
6: 133,032,181 (GRCm39) |
S192R |
possibly damaging |
Het |
Tdrp |
T |
C |
8: 14,003,840 (GRCm39) |
I166V |
possibly damaging |
Het |
Tgm3 |
C |
A |
2: 129,871,680 (GRCm39) |
Q269K |
probably benign |
Het |
Thsd7b |
G |
A |
1: 130,087,426 (GRCm39) |
C1181Y |
probably damaging |
Het |
Tinag |
A |
T |
9: 76,934,296 (GRCm39) |
|
probably benign |
Het |
Tnrc6b |
T |
C |
15: 80,763,179 (GRCm39) |
V227A |
possibly damaging |
Het |
Tox3 |
A |
C |
8: 90,996,864 (GRCm39) |
L133R |
possibly damaging |
Het |
Tshz1 |
A |
T |
18: 84,031,639 (GRCm39) |
I923N |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,855,429 (GRCm39) |
V2498D |
probably damaging |
Het |
Vps41 |
T |
A |
13: 18,994,723 (GRCm39) |
|
probably null |
Het |
Xylt2 |
T |
C |
11: 94,555,462 (GRCm39) |
D850G |
probably damaging |
Het |
Zfp229 |
T |
A |
17: 21,964,321 (GRCm39) |
S184T |
possibly damaging |
Het |
Zfp595 |
C |
A |
13: 67,468,989 (GRCm39) |
M12I |
probably benign |
Het |
Zfp750 |
T |
C |
11: 121,403,149 (GRCm39) |
Q533R |
probably benign |
Het |
|
Other mutations in Zfp518a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Zfp518a
|
APN |
19 |
40,901,914 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00647:Zfp518a
|
APN |
19 |
40,903,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01468:Zfp518a
|
APN |
19 |
40,904,475 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02079:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02080:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02466:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02470:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02471:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02472:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02500:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:Zfp518a
|
APN |
19 |
40,903,874 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02537:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02546:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02547:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02561:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02568:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02583:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02584:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02586:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02589:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02614:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02732:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02961:Zfp518a
|
APN |
19 |
40,903,462 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02985:Zfp518a
|
APN |
19 |
40,902,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4630_zfp518a_157
|
UTSW |
19 |
40,901,423 (GRCm39) |
nonsense |
probably null |
|
R0137:Zfp518a
|
UTSW |
19 |
40,904,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R0218:Zfp518a
|
UTSW |
19 |
40,901,072 (GRCm39) |
missense |
probably benign |
0.25 |
R0367:Zfp518a
|
UTSW |
19 |
40,900,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R0575:Zfp518a
|
UTSW |
19 |
40,900,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Zfp518a
|
UTSW |
19 |
40,902,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Zfp518a
|
UTSW |
19 |
40,904,000 (GRCm39) |
missense |
probably benign |
0.05 |
R1965:Zfp518a
|
UTSW |
19 |
40,901,954 (GRCm39) |
missense |
probably benign |
0.00 |
R2076:Zfp518a
|
UTSW |
19 |
40,902,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R3796:Zfp518a
|
UTSW |
19 |
40,903,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R3799:Zfp518a
|
UTSW |
19 |
40,903,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R3807:Zfp518a
|
UTSW |
19 |
40,903,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3904:Zfp518a
|
UTSW |
19 |
40,903,364 (GRCm39) |
nonsense |
probably null |
|
R3959:Zfp518a
|
UTSW |
19 |
40,901,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Zfp518a
|
UTSW |
19 |
40,901,423 (GRCm39) |
nonsense |
probably null |
|
R4662:Zfp518a
|
UTSW |
19 |
40,900,304 (GRCm39) |
missense |
probably benign |
0.01 |
R4844:Zfp518a
|
UTSW |
19 |
40,903,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R4911:Zfp518a
|
UTSW |
19 |
40,903,972 (GRCm39) |
missense |
probably benign |
0.04 |
R4934:Zfp518a
|
UTSW |
19 |
40,902,707 (GRCm39) |
missense |
probably benign |
0.01 |
R4964:Zfp518a
|
UTSW |
19 |
40,904,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4966:Zfp518a
|
UTSW |
19 |
40,904,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5373:Zfp518a
|
UTSW |
19 |
40,901,954 (GRCm39) |
missense |
probably benign |
0.00 |
R5374:Zfp518a
|
UTSW |
19 |
40,901,954 (GRCm39) |
missense |
probably benign |
0.00 |
R5378:Zfp518a
|
UTSW |
19 |
40,904,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R5509:Zfp518a
|
UTSW |
19 |
40,903,845 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5891:Zfp518a
|
UTSW |
19 |
40,900,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Zfp518a
|
UTSW |
19 |
40,903,890 (GRCm39) |
missense |
probably benign |
0.03 |
R6259:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
0.01 |
R6260:Zfp518a
|
UTSW |
19 |
40,902,567 (GRCm39) |
missense |
probably benign |
0.00 |
R6763:Zfp518a
|
UTSW |
19 |
40,902,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Zfp518a
|
UTSW |
19 |
40,902,207 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7448:Zfp518a
|
UTSW |
19 |
40,902,601 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7719:Zfp518a
|
UTSW |
19 |
40,901,212 (GRCm39) |
missense |
probably benign |
0.01 |
R7753:Zfp518a
|
UTSW |
19 |
40,904,249 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8181:Zfp518a
|
UTSW |
19 |
40,902,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8470:Zfp518a
|
UTSW |
19 |
40,904,162 (GRCm39) |
missense |
probably benign |
0.01 |
R8905:Zfp518a
|
UTSW |
19 |
40,902,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8912:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8917:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8918:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8968:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9335:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
|
R9336:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
|
R9581:Zfp518a
|
UTSW |
19 |
40,900,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R9750:Zfp518a
|
UTSW |
19 |
40,903,889 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0028:Zfp518a
|
UTSW |
19 |
40,903,377 (GRCm39) |
missense |
possibly damaging |
0.61 |
X0065:Zfp518a
|
UTSW |
19 |
40,902,626 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACTACTGTAGCTATGGTGCC -3'
(R):5'- ACTTAGCACTGTAGTTAGCAGG -3'
Sequencing Primer
(F):5'- GCTATGGTGCCATTCATAAAGACC -3'
(R):5'- CTTAGCACTGTAGTTAGCAGGAATTG -3'
|
Posted On |
2021-11-19 |