Incidental Mutation 'R8367:Zfp366'
ID |
646227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp366
|
Ensembl Gene |
ENSMUSG00000050919 |
Gene Name |
zinc finger protein 366 |
Synonyms |
DC-SCRIPT |
MMRRC Submission |
067874-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.331)
|
Stock # |
R8367 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
99321331-99383540 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99380551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 549
(M549V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056558]
|
AlphaFold |
Q6NS86 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056558
AA Change: M549V
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060040 Gene: ENSMUSG00000050919 AA Change: M549V
Domain | Start | End | E-Value | Type |
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
ZnF_C2H2
|
250 |
272 |
1.18e-2 |
SMART |
ZnF_C2H2
|
278 |
300 |
4.05e-1 |
SMART |
ZnF_C2H2
|
306 |
328 |
1.79e-2 |
SMART |
ZnF_C2H2
|
334 |
356 |
1.53e-1 |
SMART |
ZnF_C2H2
|
362 |
384 |
1.89e-1 |
SMART |
ZnF_C2H2
|
390 |
412 |
1.22e-4 |
SMART |
ZnF_C2H2
|
418 |
440 |
1.36e-2 |
SMART |
ZnF_C2H2
|
446 |
468 |
1.1e-2 |
SMART |
ZnF_C2H2
|
474 |
496 |
8.34e-3 |
SMART |
ZnF_C2H2
|
502 |
524 |
5.42e-2 |
SMART |
ZnF_C2H2
|
530 |
553 |
2.4e-3 |
SMART |
low complexity region
|
615 |
623 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4406 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit perimembranous and muscular ventricular septal defects (VSD), and overriding aorta. Short snout, micrognathia, micropthalmia, hypoplastic thymus, and hydronephrosis are also observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
G |
A |
2: 152,284,417 (GRCm39) |
|
probably null |
Het |
8030423J24Rik |
A |
T |
13: 71,032,096 (GRCm39) |
E56V |
unknown |
Het |
Abcb1a |
A |
G |
5: 8,736,221 (GRCm39) |
T205A |
probably benign |
Het |
Aplp2 |
T |
C |
9: 31,089,202 (GRCm39) |
E93G |
probably damaging |
Het |
Arpin |
T |
A |
7: 79,579,386 (GRCm39) |
N79I |
possibly damaging |
Het |
Atg7 |
T |
A |
6: 114,663,060 (GRCm39) |
D225E |
probably benign |
Het |
Bltp3b |
T |
A |
10: 89,641,239 (GRCm39) |
D803E |
probably damaging |
Het |
Cc2d2b |
A |
G |
19: 40,754,419 (GRCm39) |
M229V |
unknown |
Het |
Cep295 |
C |
T |
9: 15,245,826 (GRCm39) |
V877I |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,523,508 (GRCm39) |
|
probably null |
Het |
Cmip |
C |
T |
8: 118,163,610 (GRCm39) |
P359L |
probably benign |
Het |
Cyb5rl |
A |
G |
4: 106,928,146 (GRCm39) |
Y94C |
probably benign |
Het |
Cyp19a1 |
A |
G |
9: 54,087,543 (GRCm39) |
I125T |
probably damaging |
Het |
Cyp2c54 |
T |
G |
19: 40,062,125 (GRCm39) |
Q44P |
probably damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,627,118 (GRCm39) |
H237Q |
probably benign |
Het |
Dlgap2 |
A |
T |
8: 14,893,544 (GRCm39) |
Y953F |
probably benign |
Het |
Hgfac |
G |
T |
5: 35,202,790 (GRCm39) |
C430F |
probably damaging |
Het |
Kdm4b |
T |
C |
17: 56,662,875 (GRCm39) |
W149R |
probably damaging |
Het |
Krt23 |
C |
T |
11: 99,383,715 (GRCm39) |
W59* |
probably null |
Het |
Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 157,908,007 (GRCm39) |
Q271L |
possibly damaging |
Het |
Ltc4s |
C |
A |
11: 50,127,511 (GRCm39) |
R108L |
possibly damaging |
Het |
Mcm3ap |
T |
C |
10: 76,313,693 (GRCm39) |
S596P |
possibly damaging |
Het |
Myot |
A |
G |
18: 44,470,166 (GRCm39) |
T48A |
probably benign |
Het |
Mypn |
G |
C |
10: 62,971,539 (GRCm39) |
P834A |
probably damaging |
Het |
Or5d16 |
T |
C |
2: 87,773,441 (GRCm39) |
N177S |
possibly damaging |
Het |
Or8k30 |
C |
T |
2: 86,339,025 (GRCm39) |
S74L |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,678,124 (GRCm39) |
K615E |
probably benign |
Het |
Pramel6 |
A |
C |
2: 87,340,814 (GRCm39) |
Q382P |
probably damaging |
Het |
Prdx2 |
A |
G |
8: 85,698,244 (GRCm39) |
D145G |
probably damaging |
Het |
Prune1 |
A |
G |
3: 95,172,837 (GRCm39) |
V76A |
probably benign |
Het |
Sppl2b |
A |
T |
10: 80,699,025 (GRCm39) |
H198L |
probably benign |
Het |
Ttll9 |
C |
A |
2: 152,836,068 (GRCm39) |
H271N |
probably benign |
Het |
Vmn2r59 |
C |
A |
7: 41,661,247 (GRCm39) |
R856M |
probably benign |
Het |
Yeats2 |
C |
T |
16: 20,041,575 (GRCm39) |
T1155I |
probably damaging |
Het |
Zbbx |
A |
G |
3: 74,989,034 (GRCm39) |
|
probably null |
Het |
Zfp160 |
A |
G |
17: 21,245,804 (GRCm39) |
D118G |
probably benign |
Het |
Zp3r |
A |
G |
1: 130,526,610 (GRCm39) |
S198P |
probably damaging |
Het |
|
Other mutations in Zfp366 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Zfp366
|
APN |
13 |
99,383,080 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01626:Zfp366
|
APN |
13 |
99,364,920 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02227:Zfp366
|
APN |
13 |
99,370,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03074:Zfp366
|
APN |
13 |
99,382,913 (GRCm39) |
missense |
probably benign |
|
R0126:Zfp366
|
UTSW |
13 |
99,365,129 (GRCm39) |
missense |
probably benign |
0.14 |
R0145:Zfp366
|
UTSW |
13 |
99,366,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Zfp366
|
UTSW |
13 |
99,370,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Zfp366
|
UTSW |
13 |
99,370,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R0376:Zfp366
|
UTSW |
13 |
99,370,759 (GRCm39) |
missense |
probably benign |
0.00 |
R0537:Zfp366
|
UTSW |
13 |
99,365,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Zfp366
|
UTSW |
13 |
99,365,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R0838:Zfp366
|
UTSW |
13 |
99,365,118 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1386:Zfp366
|
UTSW |
13 |
99,383,063 (GRCm39) |
missense |
probably damaging |
0.98 |
R1422:Zfp366
|
UTSW |
13 |
99,365,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Zfp366
|
UTSW |
13 |
99,366,069 (GRCm39) |
missense |
probably damaging |
0.99 |
R1839:Zfp366
|
UTSW |
13 |
99,365,000 (GRCm39) |
missense |
probably damaging |
0.98 |
R3751:Zfp366
|
UTSW |
13 |
99,365,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Zfp366
|
UTSW |
13 |
99,382,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R4908:Zfp366
|
UTSW |
13 |
99,370,609 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4992:Zfp366
|
UTSW |
13 |
99,366,003 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5040:Zfp366
|
UTSW |
13 |
99,364,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Zfp366
|
UTSW |
13 |
99,365,451 (GRCm39) |
missense |
probably benign |
0.00 |
R5186:Zfp366
|
UTSW |
13 |
99,382,676 (GRCm39) |
missense |
probably benign |
0.00 |
R5249:Zfp366
|
UTSW |
13 |
99,366,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R5450:Zfp366
|
UTSW |
13 |
99,366,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R6838:Zfp366
|
UTSW |
13 |
99,382,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6838:Zfp366
|
UTSW |
13 |
99,365,015 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7250:Zfp366
|
UTSW |
13 |
99,366,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Zfp366
|
UTSW |
13 |
99,366,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Zfp366
|
UTSW |
13 |
99,382,895 (GRCm39) |
missense |
probably benign |
0.03 |
R7624:Zfp366
|
UTSW |
13 |
99,382,804 (GRCm39) |
missense |
probably benign |
|
R7653:Zfp366
|
UTSW |
13 |
99,365,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R9510:Zfp366
|
UTSW |
13 |
99,365,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R9658:Zfp366
|
UTSW |
13 |
99,365,435 (GRCm39) |
missense |
probably benign |
0.13 |
R9734:Zfp366
|
UTSW |
13 |
99,365,352 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Zfp366
|
UTSW |
13 |
99,382,858 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGACACCCAGGTAGCAC -3'
(R):5'- TCGATGGGCAAGAATAACCC -3'
Sequencing Primer
(F):5'- CAGGGGGACATTGTCTTTAGAAG -3'
(R):5'- CCACCCCACCCTGAGAAGTG -3'
|
Posted On |
2020-09-02 |