Incidental Mutation 'R4539:Zfp418'
| ID |
333451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp418
|
| Ensembl Gene |
ENSMUSG00000034538 |
| Gene Name |
zinc finger protein 418 |
| Synonyms |
A230102I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4539 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
7174352-7186559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 7184276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 80
(Q80K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051435]
|
| AlphaFold |
Q8BFS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051435
AA Change: Q80K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000057159
Gene: ENSMUSG00000034538
AA Change: Q80K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
25 |
78 |
2.58e-17 |
SMART |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
256 |
278 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
368 |
390 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
396 |
418 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
480 |
502 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
508 |
530 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
564 |
586 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
592 |
614 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
620 |
642 |
5.59e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,765,793 (GRCm39) |
T702A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,597,460 (GRCm39) |
T762I |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,497,070 (GRCm39) |
M465T |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,169,269 (GRCm39) |
I161V |
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,823,206 (GRCm39) |
G307S |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,623 (GRCm39) |
V707A |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,218,665 (GRCm39) |
Q473* |
probably null |
Het |
| Fut9 |
A |
T |
4: 25,619,793 (GRCm39) |
H340Q |
probably damaging |
Het |
| Gm11554 |
A |
T |
11: 99,695,186 (GRCm39) |
|
probably benign |
Het |
| Hcar2 |
A |
G |
5: 124,002,793 (GRCm39) |
F237L |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,452,970 (GRCm39) |
C492* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,613,345 (GRCm39) |
P823L |
possibly damaging |
Het |
| Luzp2 |
A |
T |
7: 54,713,037 (GRCm39) |
Q91L |
probably damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,675,218 (GRCm39) |
H117L |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,276,478 (GRCm39) |
L1209P |
probably damaging |
Het |
| Myo3b |
T |
G |
2: 69,869,491 (GRCm39) |
M1R |
probably null |
Het |
| Nacad |
A |
T |
11: 6,550,677 (GRCm39) |
V838E |
possibly damaging |
Het |
| Neurl1a |
T |
A |
19: 47,245,183 (GRCm39) |
S458T |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,470 (GRCm39) |
D874G |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,915 (GRCm39) |
T292A |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,219,699 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppih |
A |
G |
4: 119,177,656 (GRCm39) |
S6P |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,411,399 (GRCm39) |
E308G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,069,760 (GRCm39) |
T2522A |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,878,591 (GRCm39) |
M332K |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,514 (GRCm39) |
V745A |
probably benign |
Het |
| Swi5 |
T |
C |
2: 32,169,092 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,607 (GRCm39) |
T1689A |
probably damaging |
Het |
| Ttll9 |
C |
T |
2: 152,836,011 (GRCm39) |
R252C |
probably damaging |
Het |
| Vars2 |
T |
A |
17: 35,977,780 (GRCm39) |
E80V |
probably damaging |
Het |
| Zbtb39 |
G |
A |
10: 127,578,061 (GRCm39) |
D212N |
possibly damaging |
Het |
| Zscan25 |
A |
G |
5: 145,225,201 (GRCm39) |
D259G |
probably benign |
Het |
|
| Other mutations in Zfp418 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Zfp418
|
APN |
7 |
7,184,448 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02351:Zfp418
|
APN |
7 |
7,177,690 (GRCm39) |
splice site |
probably benign |
|
|
IGL02358:Zfp418
|
APN |
7 |
7,177,690 (GRCm39) |
splice site |
probably benign |
|
|
R4355_Zfp418_487
|
UTSW |
7 |
7,175,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5592_zfp418_571
|
UTSW |
7 |
7,184,314 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
P0029:Zfp418
|
UTSW |
7 |
7,177,636 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0018:Zfp418
|
UTSW |
7 |
7,185,449 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0018:Zfp418
|
UTSW |
7 |
7,185,449 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1065:Zfp418
|
UTSW |
7 |
7,184,561 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1168:Zfp418
|
UTSW |
7 |
7,185,500 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1660:Zfp418
|
UTSW |
7 |
7,184,789 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1937:Zfp418
|
UTSW |
7 |
7,185,401 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2266:Zfp418
|
UTSW |
7 |
7,185,807 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3119:Zfp418
|
UTSW |
7 |
7,184,688 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4355:Zfp418
|
UTSW |
7 |
7,175,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4735:Zfp418
|
UTSW |
7 |
7,185,561 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4756:Zfp418
|
UTSW |
7 |
7,185,762 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4763:Zfp418
|
UTSW |
7 |
7,184,444 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4810:Zfp418
|
UTSW |
7 |
7,185,846 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5347:Zfp418
|
UTSW |
7 |
7,185,534 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5592:Zfp418
|
UTSW |
7 |
7,184,314 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5640:Zfp418
|
UTSW |
7 |
7,184,980 (GRCm39) |
nonsense |
probably null |
|
|
R5974:Zfp418
|
UTSW |
7 |
7,185,199 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6209:Zfp418
|
UTSW |
7 |
7,185,096 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6218:Zfp418
|
UTSW |
7 |
7,185,627 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6502:Zfp418
|
UTSW |
7 |
7,185,599 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6619:Zfp418
|
UTSW |
7 |
7,184,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7205:Zfp418
|
UTSW |
7 |
7,184,562 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7299:Zfp418
|
UTSW |
7 |
7,185,827 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7492:Zfp418
|
UTSW |
7 |
7,184,396 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7774:Zfp418
|
UTSW |
7 |
7,185,776 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7826:Zfp418
|
UTSW |
7 |
7,185,668 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7974:Zfp418
|
UTSW |
7 |
7,185,167 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8002:Zfp418
|
UTSW |
7 |
7,184,873 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8182:Zfp418
|
UTSW |
7 |
7,184,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8298:Zfp418
|
UTSW |
7 |
7,185,814 (GRCm39) |
nonsense |
probably null |
|
|
R8773:Zfp418
|
UTSW |
7 |
7,185,797 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9280:Zfp418
|
UTSW |
7 |
7,184,408 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9318:Zfp418
|
UTSW |
7 |
7,185,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9404:Zfp418
|
UTSW |
7 |
7,185,104 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9648:Zfp418
|
UTSW |
7 |
7,185,171 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAGTAGATTTGCTCTGAGTG -3'
(R):5'- CCAATTCTTGGCTCTGTGATGC -3'
Sequencing Primer
(F):5'- ATCAAAGCAGCTAAAGTCTTAGAC -3'
(R):5'- CTTCTGGTCCAGGAGGTCTGTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation