Incidental Mutation 'R5592:Zfp418'
| ID |
437571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp418
|
| Ensembl Gene |
ENSMUSG00000034538 |
| Gene Name |
zinc finger protein 418 |
| Synonyms |
A230102I05Rik |
| MMRRC Submission |
043144-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
7174352-7186559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 7184314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 92
(K92N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051435]
|
| AlphaFold |
Q8BFS8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051435
AA Change: K92N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000057159
Gene: ENSMUSG00000034538
AA Change: K92N
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
T |
1: 85,654,332 (GRCm39) |
F2I |
probably damaging |
Het |
| Adam17 |
C |
T |
12: 21,384,138 (GRCm39) |
S454N |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,089,088 (GRCm39) |
K501* |
probably null |
Het |
| Arhgap28 |
A |
T |
17: 68,165,267 (GRCm39) |
M543K |
probably damaging |
Het |
| Art3 |
T |
A |
5: 92,540,679 (GRCm39) |
Y141N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,386,064 (GRCm39) |
T60I |
possibly damaging |
Het |
| Crmp1 |
A |
C |
5: 37,422,609 (GRCm39) |
I139L |
probably benign |
Het |
| Cul9 |
G |
A |
17: 46,831,517 (GRCm39) |
L1566F |
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Drd1 |
A |
T |
13: 54,208,190 (GRCm39) |
M1K |
probably null |
Het |
| Flii |
T |
G |
11: 60,611,225 (GRCm39) |
M449L |
probably benign |
Het |
| Galnt16 |
T |
C |
12: 80,635,293 (GRCm39) |
V343A |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,668,092 (GRCm39) |
E154D |
probably damaging |
Het |
| Glmp |
T |
G |
3: 88,233,333 (GRCm39) |
|
probably benign |
Het |
| Glt1d1 |
A |
T |
5: 127,734,183 (GRCm39) |
D119V |
probably benign |
Het |
| Gm5930 |
C |
T |
14: 44,568,886 (GRCm39) |
M245I |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,746,125 (GRCm39) |
H2901Q |
probably benign |
Het |
| Krt12 |
C |
T |
11: 99,311,650 (GRCm39) |
V184I |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mier3 |
T |
A |
13: 111,843,195 (GRCm39) |
Y182* |
probably null |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mmp25 |
A |
G |
17: 23,859,176 (GRCm39) |
V157A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ms4a6c |
A |
G |
19: 11,457,641 (GRCm39) |
|
probably benign |
Het |
| Ms4a6c |
A |
G |
19: 11,458,496 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,828,199 (GRCm39) |
|
noncoding transcript |
Het |
| Mucl3 |
T |
C |
17: 35,954,535 (GRCm39) |
Y9C |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,432,113 (GRCm39) |
M2308I |
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,549,908 (GRCm39) |
V463F |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,266,763 (GRCm39) |
|
probably null |
Het |
| Or52h9 |
A |
T |
7: 104,202,938 (GRCm39) |
N271Y |
probably benign |
Het |
| Or5l14 |
A |
G |
2: 87,792,684 (GRCm39) |
L184P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paip1 |
C |
A |
13: 119,587,334 (GRCm39) |
D124E |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,091,164 (GRCm39) |
N379K |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,280,212 (GRCm39) |
E112G |
probably damaging |
Het |
| Prrg4 |
T |
C |
2: 104,663,123 (GRCm39) |
Y161C |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,449,187 (GRCm39) |
Y648H |
probably damaging |
Het |
| Rpa3 |
A |
T |
6: 8,257,694 (GRCm39) |
M56K |
probably benign |
Het |
| Scarf1 |
A |
T |
11: 75,416,513 (GRCm39) |
T652S |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,363,608 (GRCm39) |
K423R |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,731 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
C |
2: 84,875,863 (GRCm39) |
I574T |
probably benign |
Het |
| Synm |
A |
G |
7: 67,409,264 (GRCm39) |
L38P |
probably damaging |
Het |
| Ubqln4 |
T |
G |
3: 88,464,171 (GRCm39) |
M224R |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,332,326 (GRCm39) |
N561S |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,611,835 (GRCm39) |
Y483C |
probably benign |
Het |
| Vps13a |
G |
A |
19: 16,702,935 (GRCm39) |
L673F |
probably damaging |
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 |
|
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 |
|
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'- CCTCTTCTCATGCTGCTCAAAA -3'
(R):5'- AGCTGGGAATTTCTCGCCAA -3'
Sequencing Primer
(F):5'- CTTCTCATGCTGCTCAAAAAGGGG -3'
(R):5'- GGGTTCCCTGCTACATGGAATATAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation