Incidental Mutation 'R8002:Zfp418'
ID |
616404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp418
|
Ensembl Gene |
ENSMUSG00000034538 |
Gene Name |
zinc finger protein 418 |
Synonyms |
A230102I05Rik |
MMRRC Submission |
046042-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R8002 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
7174352-7186559 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7184873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 279
(T279A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051435]
|
AlphaFold |
Q8BFS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051435
AA Change: T279A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000057159 Gene: ENSMUSG00000034538 AA Change: T279A
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
C |
T |
7: 119,172,480 (GRCm39) |
R133C |
possibly damaging |
Het |
Adgrf4 |
T |
C |
17: 42,978,683 (GRCm39) |
E220G |
probably benign |
Het |
Alx3 |
T |
A |
3: 107,508,055 (GRCm39) |
L188* |
probably null |
Het |
Arhgef2 |
A |
T |
3: 88,554,117 (GRCm39) |
I969F |
probably damaging |
Het |
Atf6 |
A |
G |
1: 170,646,823 (GRCm39) |
V350A |
probably benign |
Het |
Atp1a3 |
C |
A |
7: 24,700,096 (GRCm39) |
G88V |
probably damaging |
Het |
Brd8 |
T |
C |
18: 34,741,609 (GRCm39) |
T360A |
probably benign |
Het |
Casp1 |
C |
A |
9: 5,303,164 (GRCm39) |
T206K |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,311,656 (GRCm39) |
E214G |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,525,343 (GRCm39) |
E477G |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,311,285 (GRCm39) |
R1409S |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
Cpne3 |
A |
T |
4: 19,528,232 (GRCm39) |
F342I |
probably damaging |
Het |
Crot |
A |
C |
5: 9,043,599 (GRCm39) |
S8A |
probably benign |
Het |
Cyp11b2 |
T |
C |
15: 74,727,881 (GRCm39) |
H67R |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,020,679 (GRCm39) |
L1230H |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,035,558 (GRCm39) |
D24N |
probably damaging |
Het |
Gabrg3 |
T |
C |
7: 56,384,716 (GRCm39) |
T282A |
possibly damaging |
Het |
Gm13199 |
A |
G |
2: 5,867,458 (GRCm39) |
S13P |
unknown |
Het |
Gnptab |
A |
T |
10: 88,276,130 (GRCm39) |
D1139V |
probably benign |
Het |
Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
Jtb |
T |
C |
3: 90,141,251 (GRCm39) |
S76P |
probably benign |
Het |
Klk1b27 |
T |
A |
7: 43,705,445 (GRCm39) |
D172E |
probably benign |
Het |
Lpcat4 |
G |
A |
2: 112,074,699 (GRCm39) |
V307I |
probably benign |
Het |
Ltn1 |
A |
C |
16: 87,212,835 (GRCm39) |
S575R |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,723,878 (GRCm39) |
T287A |
probably benign |
Het |
Marco |
T |
G |
1: 120,422,509 (GRCm39) |
I58L |
probably benign |
Het |
Nadk |
G |
T |
4: 155,661,655 (GRCm39) |
|
probably null |
Het |
Or11h7 |
A |
T |
14: 50,891,314 (GRCm39) |
I207F |
probably damaging |
Het |
Otof |
G |
A |
5: 30,537,954 (GRCm39) |
T1215I |
probably benign |
Het |
Pigw |
A |
T |
11: 84,769,249 (GRCm39) |
C27S |
probably benign |
Het |
Pla2g10 |
A |
T |
16: 13,542,912 (GRCm39) |
M125K |
unknown |
Het |
Rfx4 |
A |
C |
10: 84,676,721 (GRCm39) |
M204L |
probably damaging |
Het |
Septin1 |
T |
C |
7: 126,815,074 (GRCm39) |
D209G |
probably damaging |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slc26a4 |
T |
C |
12: 31,597,969 (GRCm39) |
D159G |
probably benign |
Het |
Sptbn4 |
C |
A |
7: 27,117,417 (GRCm39) |
S444I |
possibly damaging |
Het |
Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
Stard6 |
T |
A |
18: 70,633,597 (GRCm39) |
D201E |
possibly damaging |
Het |
Tas2r114 |
T |
C |
6: 131,666,102 (GRCm39) |
T309A |
probably damaging |
Het |
Tdrd6 |
C |
A |
17: 43,940,710 (GRCm39) |
A113S |
probably damaging |
Het |
Tigd2 |
T |
G |
6: 59,187,494 (GRCm39) |
N120K |
probably damaging |
Het |
Tomm70a |
A |
G |
16: 56,957,097 (GRCm39) |
N224S |
probably damaging |
Het |
Tspo |
T |
C |
15: 83,455,640 (GRCm39) |
V9A |
probably benign |
Het |
Vmn1r21 |
T |
A |
6: 57,821,199 (GRCm39) |
I82L |
probably benign |
Het |
Vmn2r103 |
T |
A |
17: 20,019,511 (GRCm39) |
C532S |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,879,271 (GRCm39) |
N343S |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,951,785 (GRCm39) |
K665E |
probably damaging |
Het |
Xpc |
T |
A |
6: 91,469,287 (GRCm39) |
N820I |
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 |
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'- CCAAGACTTTGCAGTGGAAAGG -3'
(R):5'- AGGGTAGCTCTCTGGCGAAAG -3'
Sequencing Primer
(F):5'- AAGGAGGGGTTTGAGTCTAACAGTTG -3'
(R):5'- CCAGTGTGAACTCTCTGATGTACAG -3'
|
Posted On |
2020-01-23 |