Incidental Mutation 'R6259:Zfp518a'
| ID |
506591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| MMRRC Submission |
044376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R6259 (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 T
at 40901225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 385
(V385F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
| AlphaFold |
B2RRF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050092
AA Change: V385F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: V385F
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
99% (74/75) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,584,120 (GRCm39) |
N393K |
probably benign |
Het |
| Acap3 |
A |
T |
4: 155,980,575 (GRCm39) |
I19F |
possibly damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,184,513 (GRCm39) |
Y96C |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,696,641 (GRCm39) |
R172H |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,156,483 (GRCm39) |
F416L |
possibly damaging |
Het |
| Amy1 |
T |
C |
3: 113,363,059 (GRCm39) |
D96G |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,635 (GRCm39) |
S484P |
probably benign |
Het |
| Arsa |
A |
G |
15: 89,359,724 (GRCm39) |
C68R |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,361 (GRCm39) |
Y69C |
probably benign |
Het |
| Ass1 |
A |
G |
2: 31,378,654 (GRCm39) |
E162G |
possibly damaging |
Het |
| Atf7 |
G |
T |
15: 102,455,673 (GRCm39) |
N230K |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,092,065 (GRCm39) |
M367V |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,861,050 (GRCm39) |
Y179C |
probably damaging |
Het |
| BC004004 |
A |
T |
17: 29,517,686 (GRCm39) |
Q300L |
possibly damaging |
Het |
| Bglap3 |
A |
T |
3: 88,276,067 (GRCm39) |
I95N |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,616,630 (GRCm39) |
|
probably null |
Het |
| Caskin2 |
C |
T |
11: 115,691,279 (GRCm39) |
G1141D |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,529 (GRCm39) |
R351W |
possibly damaging |
Het |
| Col11a1 |
T |
C |
3: 113,932,096 (GRCm39) |
C89R |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,667,252 (GRCm39) |
|
probably null |
Het |
| Cwf19l2 |
T |
C |
9: 3,458,879 (GRCm39) |
I776T |
probably damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,470,817 (GRCm39) |
Q486L |
possibly damaging |
Het |
| Cyp2j9 |
T |
A |
4: 96,472,243 (GRCm39) |
Y165F |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd1c |
G |
A |
17: 57,374,104 (GRCm39) |
R522C |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,888,816 (GRCm39) |
V818A |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,477 (GRCm39) |
V2427E |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,175,264 (GRCm39) |
T1354M |
probably benign |
Het |
| Ehbp1 |
A |
G |
11: 22,235,684 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,378,866 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
C |
2: 165,558,019 (GRCm39) |
V205A |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,061,395 (GRCm39) |
H4326R |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
| Hhip |
T |
A |
8: 80,699,033 (GRCm39) |
R678W |
probably damaging |
Het |
| Il21r |
T |
A |
7: 125,229,891 (GRCm39) |
I266K |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,744,970 (GRCm39) |
S1689P |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,566,128 (GRCm39) |
E317G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lratd1 |
T |
A |
12: 14,200,646 (GRCm39) |
D27V |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,589 (GRCm39) |
N244D |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,450 (GRCm39) |
H422L |
probably benign |
Het |
| Map4k5 |
A |
G |
12: 69,899,514 (GRCm39) |
S46P |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,417,113 (GRCm39) |
|
probably benign |
Het |
| Nploc4 |
T |
C |
11: 120,276,691 (GRCm39) |
I452V |
probably benign |
Het |
| Oas1d |
T |
A |
5: 121,057,244 (GRCm39) |
Y283* |
probably null |
Het |
| Or52h1 |
A |
T |
7: 103,829,261 (GRCm39) |
M118K |
possibly damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,264 (GRCm39) |
I18F |
probably benign |
Het |
| Or5b109 |
A |
G |
19: 13,211,785 (GRCm39) |
H57R |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,779,779 (GRCm39) |
N266S |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,712,810 (GRCm39) |
V804A |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,250,749 (GRCm39) |
Y450F |
possibly damaging |
Het |
| Pprc1 |
T |
A |
19: 46,052,849 (GRCm39) |
V789E |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,769,454 (GRCm39) |
M436T |
possibly damaging |
Het |
| Prepl |
A |
T |
17: 85,377,859 (GRCm39) |
V507D |
probably damaging |
Het |
| Rag1 |
T |
A |
2: 101,474,797 (GRCm39) |
N115I |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,409,068 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
C |
5: 22,265,331 (GRCm39) |
F454V |
probably damaging |
Het |
| Slc39a11 |
A |
T |
11: 113,354,780 (GRCm39) |
S150T |
probably benign |
Het |
| Slc45a1 |
T |
A |
4: 150,722,817 (GRCm39) |
I356F |
possibly damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,393 (GRCm39) |
D353V |
possibly damaging |
Het |
| Susd2 |
T |
C |
10: 75,473,880 (GRCm39) |
S572G |
probably damaging |
Het |
| Synrg |
T |
A |
11: 83,899,484 (GRCm39) |
D563E |
probably damaging |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tnfrsf8 |
A |
G |
4: 145,004,094 (GRCm39) |
|
probably null |
Het |
| Trim26 |
C |
T |
17: 37,167,110 (GRCm39) |
A267V |
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,918,226 (GRCm39) |
F522C |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,273,997 (GRCm39) |
I29V |
probably benign |
Het |
| Unc5d |
C |
T |
8: 29,156,820 (GRCm39) |
M808I |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,683,371 (GRCm39) |
D611V |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,664,534 (GRCm39) |
Y1436* |
probably null |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
| Zfp541 |
C |
T |
7: 15,829,451 (GRCm39) |
A1222V |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (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 |
|
R6187:Zfp518a
|
UTSW |
19 |
40,903,890 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- TGGTGCCATTCATAAAGACCAAC -3'
(R):5'- AACTTAGCACTGTAGTTAGCAGG -3'
Sequencing Primer
(F):5'- CCTTGCATAAAGAACACTTATATGCG -3'
(R):5'- CTTAGCACTGTAGTTAGCAGGAATTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation