Incidental Mutation 'R8918:Zfp518a'
| ID |
679087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp518a
|
| Ensembl Gene |
ENSMUSG00000049164 |
| Gene Name |
zinc finger protein 518A |
| Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
| MMRRC Submission |
068705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R8918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40883149-40906391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 40901870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 600
(K600Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
| AlphaFold |
B2RRF6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050092
AA Change: K600Q
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: K600Q
| 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 |
0.1541 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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 |
|---|
| Acacb |
T |
C |
5: 114,333,315 (GRCm39) |
F480L |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,553,057 (GRCm39) |
I267N |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,737,380 (GRCm39) |
S2835P |
unknown |
Het |
| Arfgef3 |
C |
T |
10: 18,511,453 (GRCm39) |
R753Q |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,784,765 (GRCm39) |
T285A |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,986,473 (GRCm39) |
V520A |
probably benign |
Het |
| Atoh1 |
T |
G |
6: 64,707,241 (GRCm39) |
L312R |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,696,841 (GRCm39) |
K884R |
possibly damaging |
Het |
| Cpt1a |
T |
C |
19: 3,408,258 (GRCm39) |
V179A |
|
Het |
| Crocc2 |
C |
A |
1: 93,129,144 (GRCm39) |
N816K |
possibly damaging |
Het |
| Csf2ra |
A |
T |
19: 61,214,721 (GRCm39) |
V201D |
probably damaging |
Het |
| Dok1 |
C |
T |
6: 83,008,324 (GRCm39) |
V453I |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,662,600 (GRCm39) |
S175P |
probably benign |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,748,733 (GRCm39) |
S357N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,246 (GRCm39) |
T1478A |
probably benign |
Het |
| Gabra1 |
A |
G |
11: 42,026,320 (GRCm39) |
F324S |
probably damaging |
Het |
| Gm11437 |
T |
C |
11: 84,043,530 (GRCm39) |
T254A |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,599,706 (GRCm39) |
E726G |
probably damaging |
Het |
| Gstm2 |
A |
T |
3: 107,892,382 (GRCm39) |
C115S |
possibly damaging |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,553 (GRCm39) |
T90A |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,572,703 (GRCm39) |
I690V |
unknown |
Het |
| Kdm3b |
A |
G |
18: 34,970,650 (GRCm39) |
N1739S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,893 (GRCm39) |
N3614K |
|
Het |
| Mapk8ip3 |
A |
G |
17: 25,131,727 (GRCm39) |
L404P |
probably damaging |
Het |
| Mcl1 |
T |
C |
3: 95,567,192 (GRCm39) |
F251S |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,744,579 (GRCm39) |
L4038* |
probably null |
Het |
| Mmp8 |
T |
C |
9: 7,561,485 (GRCm39) |
V163A |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
C |
T |
18: 60,825,083 (GRCm39) |
R745H |
probably benign |
Het |
| Or4d2b |
A |
G |
11: 87,780,284 (GRCm39) |
V146A |
probably benign |
Het |
| Or8c18 |
T |
C |
9: 38,203,385 (GRCm39) |
F48S |
probably benign |
Het |
| Pard3 |
C |
T |
8: 128,098,011 (GRCm39) |
R351C |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,855,648 (GRCm39) |
D681G |
probably damaging |
Het |
| Pde10a |
G |
A |
17: 9,160,063 (GRCm39) |
A163T |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,296,505 (GRCm39) |
L123S |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,906,621 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,098 (GRCm39) |
T1015A |
probably benign |
Het |
| Rock2 |
C |
T |
12: 16,990,422 (GRCm39) |
Q115* |
probably null |
Het |
| Rorb |
T |
A |
19: 18,915,356 (GRCm39) |
H434L |
probably damaging |
Het |
| Safb2 |
A |
T |
17: 56,882,975 (GRCm39) |
C219* |
probably null |
Het |
| Sema3a |
A |
G |
5: 13,573,099 (GRCm39) |
H209R |
probably damaging |
Het |
| Serpinb9g |
T |
G |
13: 33,679,131 (GRCm39) |
S334A |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,741,147 (GRCm39) |
M500L |
probably benign |
Het |
| Snap91 |
A |
G |
9: 86,651,611 (GRCm39) |
S810P |
unknown |
Het |
| Spink5 |
G |
T |
18: 44,100,087 (GRCm39) |
A35S |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 36,954,892 (GRCm39) |
T887I |
|
Het |
| Tacc2 |
T |
C |
7: 130,227,823 (GRCm39) |
F1503L |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,180,000 (GRCm39) |
E272G |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,015,117 (GRCm39) |
I24F |
probably benign |
Het |
| Tshr |
G |
A |
12: 91,504,211 (GRCm39) |
S383N |
probably benign |
Het |
| Tspan1 |
C |
A |
4: 116,020,970 (GRCm39) |
C149F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,570,862 (GRCm39) |
L26677Q |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,017 (GRCm39) |
F1755I |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,772,873 (GRCm39) |
I4047F |
|
Het |
| Zfp1010 |
A |
C |
2: 176,958,551 (GRCm39) |
S29R |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,529 (GRCm39) |
L336* |
probably null |
Het |
| Zfp984 |
T |
C |
4: 147,840,623 (GRCm39) |
H76R |
possibly damaging |
Het |
| Zscan10 |
G |
A |
17: 23,826,116 (GRCm39) |
G138S |
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 |
|
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'- TGCTTGCCAGGAAAGTAATTTC -3'
(R):5'- GCTCTTGAAAACCTACGGCG -3'
Sequencing Primer
(F):5'- TACGCTTCAGATGGTAGACGAC -3'
(R):5'- AACCTACGGCGTTTATTATTTACC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation