Incidental Mutation 'R8182:Zfp418'
| ID |
634674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp418
|
| Ensembl Gene |
ENSMUSG00000034538 |
| Gene Name |
zinc finger protein 418 |
| Synonyms |
A230102I05Rik |
| MMRRC Submission |
067606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
7174352-7186559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7184658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 207
(N207I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051435]
|
| AlphaFold |
Q8BFS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051435
AA Change: N207I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057159
Gene: ENSMUSG00000034538
AA Change: N207I
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
A |
G |
8: 13,272,774 (GRCm39) |
V1328A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,034 (GRCm39) |
Y363C |
probably damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,549 (GRCm39) |
I59T |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,664,372 (GRCm39) |
F100I |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,171,842 (GRCm39) |
H30R |
probably benign |
Het |
| Eef2k |
G |
A |
7: 120,472,626 (GRCm39) |
R113Q |
probably damaging |
Het |
| Fam221b |
G |
A |
4: 43,660,342 (GRCm39) |
R416C |
probably damaging |
Het |
| Fam98b |
C |
A |
2: 117,080,302 (GRCm39) |
D18E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,175,223 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Fbrsl1 |
T |
A |
5: 110,526,861 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Fbxo4 |
T |
C |
15: 3,998,451 (GRCm39) |
R336G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,384,778 (GRCm39) |
C341S |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,748,813 (GRCm39) |
S398P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,806,951 (GRCm39) |
D1090G |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,681,293 (GRCm39) |
M706K |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,897,929 (GRCm39) |
F747I |
possibly damaging |
Het |
| Gm8257 |
A |
G |
14: 44,887,623 (GRCm39) |
L254P |
probably benign |
Het |
| Hnf4g |
T |
C |
3: 3,716,679 (GRCm39) |
Y283H |
possibly damaging |
Het |
| Irx6 |
C |
A |
8: 93,403,642 (GRCm39) |
Y122* |
probably null |
Het |
| Jph4 |
C |
T |
14: 55,347,213 (GRCm39) |
G445R |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,554,819 (GRCm39) |
R660S |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,819,964 (GRCm39) |
G1556D |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,485,133 (GRCm39) |
Y531* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,319,673 (GRCm39) |
D1950G |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,788,705 (GRCm39) |
S1371A |
probably benign |
Het |
| Mef2a |
T |
A |
7: 66,917,875 (GRCm39) |
E112D |
probably benign |
Het |
| Mxra8 |
C |
G |
4: 155,925,589 (GRCm39) |
Y99* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,239,292 (GRCm39) |
T112A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
| Pclo |
G |
A |
5: 14,905,634 (GRCm39) |
E4955K |
unknown |
Het |
| Poc1b |
T |
C |
10: 98,991,005 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
A |
G |
3: 119,534,078 (GRCm39) |
Y264H |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,070 (GRCm39) |
V385A |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,008,102 (GRCm39) |
P403S |
possibly damaging |
Het |
| Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
| Serpinb9f |
A |
G |
13: 33,518,603 (GRCm39) |
I368V |
probably benign |
Het |
| Slc1a1 |
A |
T |
19: 28,878,848 (GRCm39) |
T196S |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,120 (GRCm39) |
S60G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,990 (GRCm39) |
V212E |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,584 (GRCm39) |
I584N |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,530,199 (GRCm39) |
N195K |
possibly damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,982 (GRCm39) |
C58R |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,847,775 (GRCm39) |
|
probably null |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,876 (GRCm39) |
T75A |
|
Het |
| Vmn2r77 |
T |
A |
7: 86,460,801 (GRCm39) |
L709H |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,901,850 (GRCm39) |
S569P |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp808 |
G |
A |
13: 62,319,521 (GRCm39) |
C250Y |
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 |
|
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 |
|
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'- AGAACTGTATATTCCATGTAGCAGGG -3'
(R):5'- GACTAGAATGGCACCCGAAG -3'
Sequencing Primer
(F):5'- GGAACCCTTCTGTCTGTAGTAAG -3'
(R):5'- AACTCTACAGTGTTCGCTTAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation