Incidental Mutation 'R9335:Zfp518a'
| ID |
707111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R9335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40883149-40906391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40901225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 385
(V385I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
| AlphaFold |
B2RRF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050092
AA Change: V385I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: V385I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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 |
|---|
| 4932438H23Rik |
G |
T |
16: 90,852,830 (GRCm39) |
T102K |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,698,086 (GRCm39) |
D496V |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,510 (GRCm39) |
M546I |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,409,889 (GRCm39) |
N352K |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,228,236 (GRCm39) |
D1319E |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,160,207 (GRCm39) |
I460T |
probably benign |
Het |
| Brms1l |
C |
A |
12: 55,888,431 (GRCm39) |
T73K |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,482,341 (GRCm39) |
H154L |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,279,014 (GRCm39) |
L709Q |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,915,431 (GRCm39) |
V716D |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,443,711 (GRCm39) |
S796P |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,078,674 (GRCm39) |
M530K |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,272,141 (GRCm39) |
Q399L |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,175,611 (GRCm39) |
Y138H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,625,489 (GRCm39) |
I107V |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,112,149 (GRCm39) |
V2480G |
possibly damaging |
Het |
| Ect2l |
T |
A |
10: 18,077,032 (GRCm39) |
T24S |
probably null |
Het |
| Egfr |
C |
A |
11: 16,820,991 (GRCm39) |
T302K |
probably damaging |
Het |
| Eid1 |
T |
G |
2: 125,515,578 (GRCm39) |
I156S |
possibly damaging |
Het |
| Elmod1 |
A |
T |
9: 53,843,116 (GRCm39) |
W21R |
probably benign |
Het |
| Enah |
G |
A |
1: 181,749,450 (GRCm39) |
P463L |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,966,529 (GRCm39) |
Y602C |
probably benign |
Het |
| Ermap |
T |
A |
4: 119,035,545 (GRCm39) |
Y481F |
probably damaging |
Het |
| Fam114a2 |
G |
T |
11: 57,397,748 (GRCm39) |
T231N |
possibly damaging |
Het |
| Gdap1 |
A |
G |
1: 17,231,389 (GRCm39) |
T245A |
probably benign |
Het |
| Glmp |
T |
A |
3: 88,235,563 (GRCm39) |
V368D |
probably damaging |
Het |
| Gm10203 |
C |
T |
6: 149,031,815 (GRCm39) |
A40V |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hao2 |
C |
A |
3: 98,791,010 (GRCm39) |
V55L |
possibly damaging |
Het |
| Hemgn |
A |
T |
4: 46,394,647 (GRCm39) |
S488T |
probably benign |
Het |
| Ighv12-3 |
C |
T |
12: 114,330,312 (GRCm39) |
G61E |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,346,478 (GRCm39) |
E986G |
probably damaging |
Het |
| Laptm5 |
T |
G |
4: 130,656,839 (GRCm39) |
S167A |
|
Het |
| Lmtk3 |
A |
T |
7: 45,442,165 (GRCm39) |
Y377F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,258,983 (GRCm39) |
I4569T |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,866,263 (GRCm39) |
N176D |
|
Het |
| Mcf2l |
C |
A |
8: 13,050,812 (GRCm39) |
H356N |
possibly damaging |
Het |
| Mettl4 |
T |
A |
17: 95,042,936 (GRCm39) |
Y300F |
probably damaging |
Het |
| Naaladl2 |
T |
G |
3: 24,467,532 (GRCm39) |
K307N |
possibly damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,832 (GRCm39) |
D70V |
probably damaging |
Het |
| Or2aj4 |
G |
A |
16: 19,385,513 (GRCm39) |
T40I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or6c8b |
C |
T |
10: 128,882,614 (GRCm39) |
G106E |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,814,979 (GRCm39) |
M248L |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,825,491 (GRCm39) |
T300A |
probably benign |
Het |
| Ppa1 |
T |
G |
10: 61,484,562 (GRCm39) |
V19G |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,007,013 (GRCm39) |
Y793C |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,325,357 (GRCm39) |
I177F |
probably benign |
Het |
| Prodh |
C |
A |
16: 17,894,160 (GRCm39) |
G457V |
probably damaging |
Het |
| Prrt3 |
T |
C |
6: 113,475,058 (GRCm39) |
K55E |
probably benign |
Het |
| Prx |
G |
T |
7: 27,217,496 (GRCm39) |
V805L |
probably damaging |
Het |
| Ptk6 |
T |
G |
2: 180,844,146 (GRCm39) |
D51A |
probably damaging |
Het |
| Rec114 |
T |
A |
9: 58,565,041 (GRCm39) |
Q205L |
probably null |
Het |
| Rfwd3 |
T |
G |
8: 112,006,567 (GRCm39) |
K510Q |
possibly damaging |
Het |
| Sdhb |
C |
T |
4: 140,700,250 (GRCm39) |
R117C |
probably benign |
Het |
| Serinc2 |
T |
G |
4: 130,158,220 (GRCm39) |
T21P |
probably benign |
Het |
| Serpinb3a |
A |
C |
1: 106,974,886 (GRCm39) |
F216V |
probably damaging |
Het |
| Sertm1 |
T |
C |
3: 54,806,929 (GRCm39) |
D32G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,035,963 (GRCm39) |
D816G |
probably benign |
Het |
| Sfxn4 |
T |
A |
19: 60,839,494 (GRCm39) |
N188I |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,575,553 (GRCm39) |
D711G |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,621 (GRCm39) |
F392L |
probably damaging |
Het |
| Ssbp1 |
T |
C |
6: 40,454,955 (GRCm39) |
L138P |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,092,588 (GRCm39) |
G96E |
probably damaging |
Het |
| Tbc1d9 |
G |
T |
8: 83,937,160 (GRCm39) |
G81C |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,640 (GRCm39) |
Q968* |
probably null |
Het |
| Tnni2 |
T |
C |
7: 141,998,003 (GRCm39) |
S169P |
probably damaging |
Het |
| Tpk1 |
T |
C |
6: 43,446,084 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,216,123 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,255,551 (GRCm39) |
E1057D |
probably damaging |
Het |
| Usf3 |
G |
T |
16: 44,041,936 (GRCm39) |
G2139C |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,430 (GRCm39) |
Y148* |
probably null |
Het |
| Vmn2r42 |
A |
C |
7: 8,197,758 (GRCm39) |
M287R |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,332 (GRCm39) |
H565L |
probably damaging |
Het |
| Zfp974 |
A |
T |
7: 27,611,476 (GRCm39) |
M83K |
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 |
|
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 |
|
|
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'- ACTTAGCACTGTAGTTAGCAGG -3'
Sequencing Primer
(F):5'- CCTTGCATAAAGAACACTTATATGCG -3'
(R):5'- CTTAGCACTGTAGTTAGCAGGAATTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation