Incidental Mutation 'R6187:Zfp518a'
| ID |
502285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| MMRRC Submission |
044327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R6187 (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 40903890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1273
(C1273Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
| AlphaFold |
B2RRF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050092
AA Change: C1273Y
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: C1273Y
| 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 |
0.0585 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (79/80) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,259,085 (GRCm39) |
L2937H |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,627,141 (GRCm39) |
I1281V |
possibly damaging |
Het |
| Adam2 |
A |
T |
14: 66,306,068 (GRCm39) |
S138T |
possibly damaging |
Het |
| Adamts4 |
C |
T |
1: 171,078,562 (GRCm39) |
P61S |
probably damaging |
Het |
| Adamts6 |
C |
T |
13: 104,433,933 (GRCm39) |
P121S |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ak1 |
G |
A |
2: 32,523,489 (GRCm39) |
V186M |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,466,991 (GRCm39) |
Y1096C |
probably damaging |
Het |
| Ankrd29 |
A |
C |
18: 12,412,747 (GRCm39) |
Y73* |
probably null |
Het |
| Asah2 |
A |
T |
19: 32,002,267 (GRCm39) |
S292R |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,729,377 (GRCm39) |
T105S |
probably damaging |
Het |
| Axdnd1 |
T |
A |
1: 156,193,182 (GRCm39) |
|
probably null |
Het |
| Bub1b |
T |
G |
2: 118,461,481 (GRCm39) |
S678A |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,872,328 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
T |
A |
17: 41,238,089 (GRCm39) |
M142L |
probably benign |
Het |
| Ciz1 |
T |
A |
2: 32,260,063 (GRCm39) |
V203E |
possibly damaging |
Het |
| Cmklr2 |
T |
C |
1: 63,222,434 (GRCm39) |
E267G |
probably damaging |
Het |
| Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
| Cyp2c68 |
A |
T |
19: 39,729,452 (GRCm39) |
S12T |
probably benign |
Het |
| Cyp4f18 |
C |
A |
8: 72,747,030 (GRCm39) |
A322S |
probably damaging |
Het |
| Disp2 |
A |
G |
2: 118,622,624 (GRCm39) |
S1119G |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
| Faxc |
A |
G |
4: 21,958,445 (GRCm39) |
T201A |
possibly damaging |
Het |
| Fbxw14 |
A |
G |
9: 109,105,332 (GRCm39) |
S278P |
probably damaging |
Het |
| Fpr1 |
G |
T |
17: 18,097,190 (GRCm39) |
C266* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,812,798 (GRCm39) |
I3039T |
probably benign |
Het |
| Gas1 |
G |
T |
13: 60,324,186 (GRCm39) |
S190R |
possibly damaging |
Het |
| Gemin2 |
A |
G |
12: 59,060,371 (GRCm39) |
T37A |
probably damaging |
Het |
| Gm21370 |
T |
C |
13: 120,488,403 (GRCm39) |
I49V |
probably benign |
Het |
| Gm8444 |
T |
C |
15: 81,727,807 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,128,936 (GRCm39) |
D401G |
possibly damaging |
Het |
| Gstk1 |
G |
A |
6: 42,226,794 (GRCm39) |
V187I |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,506,479 (GRCm39) |
D3776G |
probably damaging |
Het |
| Itfg1 |
A |
C |
8: 86,563,094 (GRCm39) |
V102G |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,101,307 (GRCm39) |
|
probably null |
Het |
| Kif13b |
A |
C |
14: 64,973,664 (GRCm39) |
D338A |
probably damaging |
Het |
| Mab21l2 |
T |
C |
3: 86,454,565 (GRCm39) |
Y145C |
probably damaging |
Het |
| Magel2 |
A |
G |
7: 62,027,389 (GRCm39) |
M98V |
unknown |
Het |
| Mdfic |
T |
C |
6: 15,721,196 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,473,220 (GRCm39) |
I897T |
probably damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,384,453 (GRCm39) |
L3475P |
probably damaging |
Het |
| Myh14 |
G |
A |
7: 44,276,457 (GRCm39) |
T1216I |
probably damaging |
Het |
| Nfatc2 |
T |
A |
2: 168,322,158 (GRCm39) |
I914F |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,478,256 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
A |
2: 87,083,042 (GRCm39) |
S254T |
probably damaging |
Het |
| Or10al4 |
T |
C |
17: 38,037,032 (GRCm39) |
L48P |
probably damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,529 (GRCm39) |
|
probably benign |
Het |
| Or2y13 |
G |
T |
11: 49,414,338 (GRCm39) |
|
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,198,526 (GRCm39) |
M1T |
probably null |
Het |
| Or5p50 |
A |
T |
7: 107,421,781 (GRCm39) |
N298K |
probably benign |
Het |
| Or7g20 |
A |
C |
9: 18,946,689 (GRCm39) |
Q90P |
probably benign |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,689,315 (GRCm39) |
Q513R |
probably damaging |
Het |
| Padi1 |
C |
T |
4: 140,554,276 (GRCm39) |
V310M |
probably damaging |
Het |
| Pard3 |
T |
C |
8: 127,800,023 (GRCm39) |
L11S |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,497 (GRCm39) |
D201V |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,622 (GRCm39) |
R253G |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,051,461 (GRCm39) |
D253N |
probably damaging |
Het |
| Ppp2cb |
T |
C |
8: 34,105,502 (GRCm39) |
S171P |
probably damaging |
Het |
| Prr5 |
C |
T |
15: 84,577,973 (GRCm39) |
T94M |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,420,092 (GRCm39) |
F340S |
probably damaging |
Het |
| Rpa1 |
C |
G |
11: 75,201,062 (GRCm39) |
G433A |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,788,386 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Homo |
| Svep1 |
C |
T |
4: 58,072,872 (GRCm39) |
G2146R |
probably damaging |
Het |
| Tas2r106 |
A |
G |
6: 131,655,173 (GRCm39) |
M226T |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,420,148 (GRCm39) |
I14V |
probably benign |
Het |
| Tekt4 |
G |
C |
17: 25,691,197 (GRCm39) |
V168L |
probably damaging |
Het |
| Tnfaip1 |
T |
A |
11: 78,418,372 (GRCm39) |
T232S |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,744,038 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,774,781 (GRCm39) |
Y2133F |
unknown |
Het |
| Uap1l1 |
C |
T |
2: 25,252,741 (GRCm39) |
R433H |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,181 (GRCm39) |
F339L |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,608,003 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vcpip1 |
T |
C |
1: 9,795,005 (GRCm39) |
H1122R |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,888 (GRCm39) |
V391A |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,822,939 (GRCm39) |
R1327W |
probably damaging |
Het |
| Yes1 |
A |
G |
5: 32,802,385 (GRCm39) |
Y100C |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,577,134 (GRCm39) |
N1326K |
possibly damaging |
Het |
| Zfr |
AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA |
AGCAGCAGCA |
15: 12,146,317 (GRCm39) |
|
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 |
|
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 |
|
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'- ACTACAGCATGCCCAGGATC -3'
(R):5'- TTCTCCTAGGACATTTCACAAGC -3'
Sequencing Primer
(F):5'- ATGCCCAGGATCTTCTGAGGAAC -3'
(R):5'- CCTAGGACATTTCACAAGCTGTTTGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation