Incidental Mutation 'IGL01783:Zfp418'
ID |
154216 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01783
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
7174352-7186559 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 7184448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 137
(W137L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051435]
|
AlphaFold |
Q8BFS8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051435
AA Change: W137L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000057159 Gene: ENSMUSG00000034538 AA Change: W137L
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
C |
8: 10,037,900 (GRCm39) |
Y166H |
possibly damaging |
Het |
Abi3bp |
G |
A |
16: 56,353,332 (GRCm39) |
|
probably null |
Het |
Actrt3 |
T |
C |
3: 30,652,624 (GRCm39) |
T157A |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,798 (GRCm39) |
K68R |
probably benign |
Het |
Adgrg7 |
A |
G |
16: 56,568,282 (GRCm39) |
|
probably null |
Het |
Ano6 |
T |
C |
15: 95,860,143 (GRCm39) |
I755T |
possibly damaging |
Het |
Basp1 |
T |
C |
15: 25,364,953 (GRCm39) |
N15D |
unknown |
Het |
Bod1l |
T |
C |
5: 41,966,055 (GRCm39) |
N2670S |
probably benign |
Het |
Btbd3 |
T |
A |
2: 138,125,656 (GRCm39) |
I280N |
probably damaging |
Het |
Cdh16 |
T |
A |
8: 105,344,488 (GRCm39) |
Y17F |
probably damaging |
Het |
Clmp |
G |
T |
9: 40,693,703 (GRCm39) |
G307W |
possibly damaging |
Het |
Clrn2 |
C |
A |
5: 45,617,503 (GRCm39) |
Q125K |
probably benign |
Het |
Ctnna3 |
C |
T |
10: 63,656,248 (GRCm39) |
A276V |
possibly damaging |
Het |
Dram2 |
A |
T |
3: 106,480,972 (GRCm39) |
T172S |
possibly damaging |
Het |
Dync2h1 |
G |
A |
9: 7,118,822 (GRCm39) |
|
probably benign |
Het |
Ezr |
T |
C |
17: 7,009,888 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,275,257 (GRCm39) |
D352E |
probably damaging |
Het |
Gbe1 |
T |
C |
16: 70,198,743 (GRCm39) |
|
probably null |
Het |
Gpr18 |
T |
A |
14: 122,149,789 (GRCm39) |
M79L |
probably benign |
Het |
Gss |
T |
C |
2: 155,413,479 (GRCm39) |
Y196C |
probably damaging |
Het |
Gtpbp1 |
T |
C |
15: 79,600,398 (GRCm39) |
S444P |
probably damaging |
Het |
Hecw1 |
C |
T |
13: 14,452,878 (GRCm39) |
R712K |
probably damaging |
Het |
Helz2 |
T |
G |
2: 180,874,674 (GRCm39) |
D1940A |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,491,051 (GRCm39) |
V4166E |
possibly damaging |
Het |
Klkb1 |
T |
C |
8: 45,729,428 (GRCm39) |
Y297C |
probably damaging |
Het |
Krt75 |
T |
A |
15: 101,473,364 (GRCm39) |
I537F |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,202,584 (GRCm39) |
T1176S |
probably damaging |
Het |
Nid2 |
T |
C |
14: 19,818,745 (GRCm39) |
L413P |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
Or10ag57 |
G |
T |
2: 87,218,182 (GRCm39) |
L44F |
probably benign |
Het |
Or4c11 |
T |
C |
2: 88,695,186 (GRCm39) |
L79P |
probably damaging |
Het |
Or5t7 |
A |
G |
2: 86,507,425 (GRCm39) |
V84A |
probably benign |
Het |
Piwil1 |
A |
G |
5: 128,820,890 (GRCm39) |
N272D |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 45,009,481 (GRCm39) |
|
probably null |
Het |
Prkg1 |
A |
G |
19: 30,602,089 (GRCm39) |
V389A |
probably damaging |
Het |
Sema3a |
C |
A |
5: 13,611,767 (GRCm39) |
S344R |
probably damaging |
Het |
Serpina3j |
T |
C |
12: 104,284,750 (GRCm39) |
L309P |
probably damaging |
Het |
Slc15a1 |
A |
G |
14: 121,708,688 (GRCm39) |
|
probably null |
Het |
Sp8 |
G |
T |
12: 118,812,759 (GRCm39) |
A205S |
probably benign |
Het |
Speer4a1 |
T |
A |
5: 26,240,045 (GRCm39) |
Q235L |
possibly damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,305 (GRCm39) |
T159A |
probably benign |
Het |
Tbrg1 |
G |
T |
9: 37,565,596 (GRCm39) |
P119T |
possibly damaging |
Het |
Tmem59l |
T |
C |
8: 70,939,874 (GRCm39) |
T32A |
probably damaging |
Het |
Trmt13 |
G |
A |
3: 116,376,561 (GRCm39) |
R277* |
probably null |
Het |
Zfp316 |
A |
G |
5: 143,248,631 (GRCm39) |
F205S |
unknown |
Het |
Zp3r |
A |
T |
1: 130,526,603 (GRCm39) |
V200D |
possibly damaging |
Het |
|
Other mutations in Zfp418 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4539:Zfp418
|
UTSW |
7 |
7,184,276 (GRCm39) |
missense |
probably benign |
0.18 |
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 |
|
Posted On |
2014-02-04 |