Incidental Mutation 'R5378:Zfp518a'
| ID |
425723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| MMRRC Submission |
042953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R5378 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40883149-40906391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40904300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1410
(S1410P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
| AlphaFold |
B2RRF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050092
AA Change: S1410P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: S1410P
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,396,141 (GRCm39) |
F39L |
probably benign |
Het |
| Abca2 |
T |
G |
2: 25,336,080 (GRCm39) |
L2150R |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,061,865 (GRCm39) |
V3449D |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
| Bora |
A |
G |
14: 99,305,929 (GRCm39) |
N433D |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,778,912 (GRCm39) |
A1159T |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,650 (GRCm39) |
A271V |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,391 (GRCm39) |
T331I |
possibly damaging |
Het |
| Cemip |
A |
G |
7: 83,607,733 (GRCm39) |
S758P |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,385,663 (GRCm39) |
V2206I |
possibly damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,676,007 (GRCm39) |
S412T |
probably benign |
Het |
| Cks1b |
A |
C |
3: 89,323,608 (GRCm39) |
W54G |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,708,872 (GRCm39) |
V630M |
unknown |
Het |
| Dnajb14 |
A |
G |
3: 137,591,139 (GRCm39) |
D30G |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,985,296 (GRCm39) |
Y785H |
probably damaging |
Het |
| Dsel |
T |
A |
1: 111,790,551 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Esp8 |
G |
A |
17: 40,841,033 (GRCm39) |
C98Y |
unknown |
Het |
| F11 |
C |
A |
8: 45,705,180 (GRCm39) |
M120I |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,820,185 (GRCm39) |
F5306S |
possibly damaging |
Het |
| Gm4841 |
T |
C |
18: 60,404,113 (GRCm39) |
|
probably null |
Het |
| Gpr180 |
T |
A |
14: 118,377,251 (GRCm39) |
L84Q |
probably benign |
Het |
| Grwd1 |
A |
T |
7: 45,479,505 (GRCm39) |
D123E |
probably benign |
Het |
| Hsfy2 |
T |
C |
1: 56,675,827 (GRCm39) |
R237G |
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,055,993 (GRCm39) |
Y328C |
probably damaging |
Het |
| Klrb1f |
G |
A |
6: 129,030,794 (GRCm39) |
A127T |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,299,750 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,940 (GRCm39) |
V2962A |
unknown |
Het |
| Or52s19 |
T |
A |
7: 103,007,652 (GRCm39) |
I250F |
probably damaging |
Het |
| Or5t15 |
A |
T |
2: 86,681,807 (GRCm39) |
N78K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,904,428 (GRCm39) |
T518S |
probably damaging |
Het |
| Phgdh |
A |
T |
3: 98,228,639 (GRCm39) |
|
probably null |
Het |
| Pip5kl1 |
A |
T |
2: 32,469,106 (GRCm39) |
T213S |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,330,977 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,035,888 (GRCm39) |
D621V |
probably damaging |
Het |
| Ptgr3 |
G |
A |
18: 84,112,803 (GRCm39) |
A160T |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,007,401 (GRCm39) |
I1655F |
probably damaging |
Het |
| Rbm28 |
T |
C |
6: 29,128,558 (GRCm39) |
K55E |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,633 (GRCm39) |
V196E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,282,861 (GRCm39) |
M434L |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc35f1 |
A |
T |
10: 52,567,157 (GRCm39) |
H22L |
possibly damaging |
Het |
| Smg6 |
A |
G |
11: 74,932,820 (GRCm39) |
D98G |
possibly damaging |
Het |
| Strbp |
A |
G |
2: 37,489,186 (GRCm39) |
Y527H |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,490,818 (GRCm39) |
V479A |
probably benign |
Het |
| Tdg |
G |
T |
10: 82,477,305 (GRCm39) |
V119L |
probably benign |
Het |
| Trav10d |
G |
A |
14: 53,048,825 (GRCm39) |
R72H |
probably benign |
Het |
| Trgc2 |
T |
C |
13: 19,489,297 (GRCm39) |
Y145C |
unknown |
Het |
| Trim25 |
T |
C |
11: 88,900,093 (GRCm39) |
L280P |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,726 (GRCm39) |
D49G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,534 (GRCm39) |
|
probably benign |
Het |
| Tyr |
T |
A |
7: 87,121,703 (GRCm39) |
H363L |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 37,989,822 (GRCm39) |
S2020P |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,315,928 (GRCm39) |
D2069G |
probably damaging |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,963 (GRCm39) |
W122R |
probably benign |
Het |
| Wdr7 |
G |
A |
18: 63,958,310 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
T |
A |
12: 85,077,029 (GRCm39) |
H793Q |
probably damaging |
Het |
| Zfp266 |
G |
A |
9: 20,410,659 (GRCm39) |
T506I |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAATGTCCTAGGAGAAACCAAC -3'
(R):5'- AATGTCTCTGTCCATGGCCAG -3'
Sequencing Primer
(F):5'- GTCTTGAACCATCCTGATGCAGATAC -3'
(R):5'- GCCAGCCCACACATCTTGATTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation