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: 0.926)
|
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 |