Incidental Mutation 'R8912:Zfp518a'
| ID |
678728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| MMRRC Submission |
068765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R8912 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40883149-40906391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 40901870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 600
(K600Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
| AlphaFold |
B2RRF6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050092
AA Change: K600Q
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: K600Q
| 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 |
|
| Meta Mutation Damage Score |
0.1541 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
C |
T |
5: 113,861,767 (GRCm39) |
W34* |
probably null |
Het |
| Adck5 |
T |
C |
15: 76,477,435 (GRCm39) |
S90P |
probably damaging |
Het |
| Adgra3 |
C |
A |
5: 50,118,273 (GRCm39) |
A1092S |
possibly damaging |
Het |
| Arhgap33 |
A |
T |
7: 30,232,467 (GRCm39) |
|
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6ap1l |
T |
A |
13: 91,046,979 (GRCm39) |
|
probably null |
Het |
| Brd2 |
A |
T |
17: 34,332,458 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,260,097 (GRCm39) |
|
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,599 (GRCm39) |
V108A |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,323 (GRCm39) |
V320A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,689,869 (GRCm39) |
H22L |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,468,513 (GRCm39) |
Y251C |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,715,878 (GRCm39) |
N273K |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,531,164 (GRCm39) |
V137A |
possibly damaging |
Het |
| Ercc6 |
C |
T |
14: 32,248,211 (GRCm39) |
P254L |
probably benign |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,240,420 (GRCm39) |
E789G |
possibly damaging |
Het |
| Fbxl13 |
T |
G |
5: 21,727,184 (GRCm39) |
D571A |
probably damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,717 (GRCm39) |
E159V |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 8,019,778 (GRCm39) |
I134V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,810,938 (GRCm39) |
D2419G |
probably benign |
Het |
| Gm3371 |
T |
C |
14: 44,641,238 (GRCm39) |
K109E |
|
Het |
| Gm5414 |
A |
G |
15: 101,536,620 (GRCm39) |
S2P |
possibly damaging |
Het |
| Igkv1-110 |
G |
T |
6: 68,247,950 (GRCm39) |
D20Y |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ippk |
A |
G |
13: 49,603,513 (GRCm39) |
D422G |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,655 (GRCm39) |
D592E |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,159,368 (GRCm39) |
I215T |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,424 (GRCm39) |
L590Q |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,680,929 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
G |
18: 86,479,173 (GRCm39) |
D159G |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,220,030 (GRCm38) |
K104E |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,366 (GRCm39) |
V1256A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Or13e8 |
T |
A |
4: 43,697,017 (GRCm39) |
D52V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Or9m1b |
C |
T |
2: 87,836,661 (GRCm39) |
A145T |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,385,565 (GRCm39) |
H444R |
|
Het |
| Pclo |
T |
C |
5: 14,825,335 (GRCm39) |
L1356P |
|
Het |
| Pde4dip |
A |
G |
3: 97,617,633 (GRCm39) |
S1732P |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,230 (GRCm39) |
I25N |
|
Het |
| Pira13 |
A |
T |
7: 3,825,818 (GRCm39) |
D350E |
unknown |
Het |
| Pou2f3 |
C |
A |
9: 43,110,336 (GRCm39) |
V30L |
probably benign |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
A |
4: 43,938,802 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,475,323 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
C |
10: 57,400,075 (GRCm39) |
S191A |
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,056,560 (GRCm39) |
S915P |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,243,486 (GRCm39) |
T79A |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 32,069,919 (GRCm39) |
V207A |
possibly damaging |
Het |
| Skap1 |
A |
T |
11: 96,644,902 (GRCm39) |
I338F |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,305,361 (GRCm39) |
|
probably benign |
Het |
| Sowahc |
G |
T |
10: 59,057,813 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
C |
13: 59,875,136 (GRCm39) |
K800E |
possibly damaging |
Het |
| Spin1 |
T |
A |
13: 51,298,433 (GRCm39) |
W151R |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,623,686 (GRCm39) |
T438A |
possibly damaging |
Het |
| Srrm2 |
A |
G |
17: 24,038,575 (GRCm39) |
T1740A |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,534,014 (GRCm39) |
S347C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,566,860 (GRCm39) |
S185P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,758,153 (GRCm39) |
T638I |
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,336,478 (GRCm39) |
Y472H |
probably damaging |
Het |
| Trav4-2 |
C |
G |
14: 53,656,266 (GRCm39) |
Y89* |
probably null |
Het |
| Trpm1 |
G |
T |
7: 63,918,628 (GRCm39) |
R1540L |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,770,367 (GRCm39) |
|
probably null |
Het |
| Tti1 |
A |
G |
2: 157,851,188 (GRCm39) |
V17A |
probably benign |
Het |
| Vamp8 |
A |
G |
6: 72,365,276 (GRCm39) |
L44P |
probably benign |
Het |
| Vmn1r63 |
G |
T |
7: 5,806,131 (GRCm39) |
S167Y |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,891,913 (GRCm39) |
V710A |
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,374,655 (GRCm39) |
D453G |
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 |
|
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 |
|
R9029:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
|
|
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'- TGCTTGCCAGGAAAGTAATTTC -3'
(R):5'- TGCTCTTGAAAACCTACGGCG -3'
Sequencing Primer
(F):5'- TACGCTTCAGATGGTAGACGAC -3'
(R):5'- AACCTACGGCGTTTATTATTTACC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation