Incidental Mutation 'IGL02437:Zfp518a'
| ID |
293297 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
IGL02437
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40883149-40906391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40903061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 997
(G997R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
| AlphaFold |
B2RRF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050092
AA Change: G997R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: G997R
| 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 |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abca16 |
T |
G |
7: 120,132,952 (GRCm39) |
C1294G |
probably benign |
Het |
| Abca7 |
T |
A |
10: 79,844,223 (GRCm39) |
S1410T |
probably damaging |
Het |
| Abhd12 |
T |
C |
2: 150,676,289 (GRCm39) |
D356G |
probably benign |
Het |
| BC004004 |
T |
C |
17: 29,517,671 (GRCm39) |
L295P |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,824,595 (GRCm39) |
S215G |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,965,521 (GRCm39) |
M1109I |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,698,563 (GRCm39) |
A245V |
possibly damaging |
Het |
| Cask |
G |
A |
X: 13,403,860 (GRCm39) |
T16I |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,789,342 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
C |
8: 120,901,525 (GRCm39) |
E60G |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,327,817 (GRCm39) |
I541F |
probably damaging |
Het |
| Clnk |
C |
T |
5: 38,931,909 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
T |
A |
11: 101,077,677 (GRCm39) |
I1113N |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp26a1 |
T |
C |
19: 37,686,943 (GRCm39) |
S132P |
probably benign |
Het |
| Cyp4f13 |
G |
T |
17: 33,149,582 (GRCm39) |
H85N |
probably benign |
Het |
| Dcaf15 |
C |
T |
8: 84,828,445 (GRCm39) |
G215D |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,134,101 (GRCm39) |
T500A |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,231,546 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,763,733 (GRCm39) |
I1473F |
probably damaging |
Het |
| Gm5129 |
A |
T |
5: 29,940,861 (GRCm39) |
|
probably benign |
Het |
| Hdgf |
C |
T |
3: 87,821,792 (GRCm39) |
R168C |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,516,633 (GRCm39) |
T342A |
probably benign |
Het |
| Kdelr3 |
T |
C |
15: 79,409,988 (GRCm39) |
Y158H |
probably damaging |
Het |
| Lamb3 |
C |
T |
1: 193,010,253 (GRCm39) |
R289C |
probably damaging |
Het |
| Leng8 |
C |
T |
7: 4,145,092 (GRCm39) |
A164V |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,194,889 (GRCm39) |
T1337A |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,233,202 (GRCm39) |
R316L |
possibly damaging |
Het |
| Nampt |
A |
G |
12: 32,880,215 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,975,264 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,388,558 (GRCm39) |
D354G |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,461,254 (GRCm39) |
R2494W |
probably damaging |
Het |
| Nt5c1a |
A |
G |
4: 123,108,034 (GRCm39) |
N239S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,231,329 (GRCm39) |
E19G |
possibly damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,657 (GRCm39) |
S145T |
probably benign |
Het |
| Or4c58 |
A |
G |
2: 89,675,128 (GRCm39) |
L63P |
probably damaging |
Het |
| Pcna |
A |
T |
2: 132,093,155 (GRCm39) |
|
probably benign |
Het |
| Pdia3 |
T |
A |
2: 121,264,129 (GRCm39) |
V326E |
probably damaging |
Het |
| Phf8 |
T |
A |
X: 150,414,356 (GRCm39) |
L1002Q |
possibly damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,033,365 (GRCm39) |
E535G |
probably damaging |
Het |
| Rusc2 |
G |
T |
4: 43,415,545 (GRCm39) |
D284Y |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,825,491 (GRCm39) |
Y212C |
probably benign |
Het |
| Sash3 |
C |
A |
X: 47,247,672 (GRCm39) |
Q169K |
probably benign |
Het |
| Scyl1 |
C |
T |
19: 5,816,224 (GRCm39) |
G324S |
probably damaging |
Het |
| Sec62 |
G |
A |
3: 30,872,996 (GRCm39) |
G360R |
unknown |
Het |
| Sis |
T |
C |
3: 72,826,947 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
A |
6: 114,285,578 (GRCm39) |
I338N |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,058,030 (GRCm39) |
D264G |
probably damaging |
Het |
| Tgm3 |
G |
T |
2: 129,871,961 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
T |
G |
15: 80,764,658 (GRCm39) |
L720R |
probably damaging |
Het |
| Tspyl4 |
A |
T |
10: 34,174,228 (GRCm39) |
Q240L |
probably damaging |
Het |
| Tube1 |
G |
A |
10: 39,016,846 (GRCm39) |
V80I |
probably damaging |
Het |
| Uap1l1 |
C |
T |
2: 25,253,945 (GRCm39) |
V304M |
probably damaging |
Het |
| Wtap |
T |
C |
17: 13,186,620 (GRCm39) |
N309S |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,315,621 (GRCm39) |
D1285G |
probably benign |
Het |
| Zscan20 |
G |
A |
4: 128,482,210 (GRCm39) |
T484I |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation