Incidental Mutation 'R8911:Zfp518a'
| ID |
678663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| MMRRC Submission |
068764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R8911 (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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
| 3425401B19Rik |
A |
T |
14: 32,383,626 (GRCm39) |
C780S |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,380,690 (GRCm39) |
D306G |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,558,163 (GRCm39) |
|
probably benign |
Het |
| Agt |
T |
C |
8: 125,291,184 (GRCm39) |
Y41C |
probably benign |
Het |
| Alx3 |
G |
T |
3: 107,511,603 (GRCm39) |
R204L |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bcl11a |
C |
T |
11: 24,114,763 (GRCm39) |
P702L |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 153,851,090 (GRCm39) |
N17S |
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,377,584 (GRCm39) |
D35G |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,252,187 (GRCm39) |
K21R |
probably benign |
Het |
| Cdhr18 |
T |
C |
14: 13,823,796 (GRCm38) |
|
probably null |
Het |
| Cntn4 |
T |
C |
6: 106,330,743 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
C |
17: 58,506,043 (GRCm39) |
N689T |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,883,238 (GRCm39) |
Y389C |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,887,630 (GRCm39) |
|
probably null |
Het |
| Coro1b |
G |
A |
19: 4,200,803 (GRCm39) |
R245Q |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,019 (GRCm39) |
D244G |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,937,121 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,078 (GRCm39) |
P40L |
possibly damaging |
Het |
| Dsg4 |
C |
A |
18: 20,584,929 (GRCm39) |
Y214* |
probably null |
Het |
| Eapp |
A |
T |
12: 54,739,440 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,748,114 (GRCm39) |
T317A |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,564 (GRCm39) |
C39R |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,813,703 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,740,903 (GRCm39) |
S1393L |
possibly damaging |
Het |
| Guca1b |
A |
G |
17: 47,700,044 (GRCm39) |
I73V |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,694,789 (GRCm39) |
V796I |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,616 (GRCm39) |
I2271T |
probably damaging |
Het |
| Heg1 |
T |
G |
16: 33,558,627 (GRCm39) |
Y1066* |
probably null |
Het |
| Helz2 |
C |
A |
2: 180,880,173 (GRCm39) |
K514N |
|
Het |
| Ice1 |
C |
T |
13: 70,740,787 (GRCm39) |
R70Q |
|
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,004,447 (GRCm39) |
T245A |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,822,453 (GRCm39) |
Q562* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,124,735 (GRCm39) |
R330G |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,027,873 (GRCm39) |
C184S |
probably damaging |
Het |
| Lhx5 |
T |
A |
5: 120,574,509 (GRCm39) |
L271* |
probably null |
Het |
| Magel2 |
G |
A |
7: 62,029,537 (GRCm39) |
V814M |
unknown |
Het |
| Manf |
A |
G |
9: 106,767,461 (GRCm39) |
I85T |
possibly damaging |
Het |
| Mgmt |
A |
G |
7: 136,729,794 (GRCm39) |
T203A |
probably benign |
Het |
| Mmp9 |
C |
T |
2: 164,794,568 (GRCm39) |
S520F |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,484 (GRCm39) |
E578G |
possibly damaging |
Het |
| Naaladl2 |
A |
G |
3: 23,900,757 (GRCm39) |
M691T |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c112 |
T |
C |
2: 88,854,294 (GRCm39) |
N18D |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,608 (GRCm39) |
I156V |
probably benign |
Het |
| Pcdhga12 |
A |
T |
18: 37,900,118 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pcnt |
T |
G |
10: 76,223,359 (GRCm39) |
K1941T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,650,917 (GRCm39) |
M896K |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,487,254 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,946,201 (GRCm39) |
S542P |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,247,257 (GRCm39) |
V822A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,141 (GRCm39) |
G717C |
probably damaging |
Het |
| Ptprs |
C |
T |
17: 56,730,320 (GRCm39) |
A1185T |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,503,560 (GRCm39) |
I1157F |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,591,268 (GRCm39) |
T457A |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,812 (GRCm39) |
E270G |
probably damaging |
Het |
| Rrp15 |
C |
T |
1: 186,453,641 (GRCm39) |
E269K |
unknown |
Het |
| Sec23b |
T |
C |
2: 144,401,316 (GRCm39) |
V59A |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,846,809 (GRCm39) |
|
probably null |
Het |
| Sp5 |
C |
A |
2: 70,306,962 (GRCm39) |
P216T |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,097,629 (GRCm39) |
S808F |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,592,694 (GRCm39) |
|
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,791,087 (GRCm39) |
S563T |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,987,893 (GRCm39) |
D580G |
unknown |
Het |
| Usp14 |
A |
G |
18: 9,996,194 (GRCm39) |
I462T |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r184 |
C |
G |
7: 25,966,310 (GRCm39) |
Q19E |
possibly damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,710 (GRCm39) |
A64E |
probably benign |
Het |
| Zc3h11a |
T |
A |
1: 133,566,339 (GRCm39) |
N211I |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,061 (GRCm39) |
S723T |
probably benign |
Het |
| Zmynd12 |
A |
T |
4: 119,294,286 (GRCm39) |
I88F |
probably damaging |
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 |
|
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 |
|
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'- GTGCTTGCCAGGAAAGTAATTTC -3'
(R):5'- TTGCTCTTGAAAACCTACGGC -3'
Sequencing Primer
(F):5'- TACGCTTCAGATGGTAGACGAC -3'
(R):5'- AACCTACGGCGTTTATTATTTACC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation