Incidental Mutation 'R3751:Zfp366'
| ID |
271225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp366
|
| Ensembl Gene |
ENSMUSG00000050919 |
| Gene Name |
zinc finger protein 366 |
| Synonyms |
DC-SCRIPT |
| MMRRC Submission |
040736-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
R3751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
99321331-99383540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99365352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 171
(Y171C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056558]
|
| AlphaFold |
Q6NS86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056558
AA Change: Y171C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060040
Gene: ENSMUSG00000050919
AA Change: Y171C
| 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 |
0.1506 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
93% (43/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,289,973 (GRCm39) |
R183I |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,453,361 (GRCm39) |
|
probably null |
Het |
| BC051665 |
A |
T |
13: 60,931,145 (GRCm39) |
F258I |
probably damaging |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,814,459 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ceacam18 |
T |
A |
7: 43,291,372 (GRCm39) |
H271Q |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,066,213 (GRCm39) |
Y137C |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,724,424 (GRCm39) |
V212A |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,777,216 (GRCm39) |
M885K |
probably benign |
Het |
| Col6a4 |
G |
T |
9: 105,949,313 (GRCm39) |
T774N |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,403 (GRCm39) |
T1049A |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,239 (GRCm39) |
I276V |
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,477,420 (GRCm39) |
H34R |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,801,921 (GRCm39) |
H32L |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,532,998 (GRCm39) |
I141M |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,641 (GRCm39) |
I121N |
probably damaging |
Het |
| Krtap17-1 |
A |
T |
11: 99,884,481 (GRCm39) |
C95* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,058 (GRCm39) |
Y748C |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,867,742 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,997 (GRCm39) |
L31P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,183,284 (GRCm39) |
Q886R |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,118,115 (GRCm39) |
|
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or6c38 |
T |
A |
10: 128,929,175 (GRCm39) |
I223F |
probably damaging |
Het |
| Or7h8 |
C |
T |
9: 20,124,556 (GRCm39) |
L304F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,337,447 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
T |
G |
6: 57,501,845 (GRCm39) |
E106A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Rnf214 |
A |
C |
9: 45,778,901 (GRCm39) |
I581S |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,417 (GRCm39) |
V1049A |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,295,292 (GRCm39) |
L262P |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,928 (GRCm39) |
V139I |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,250,912 (GRCm39) |
L684M |
probably damaging |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,066 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,382 (GRCm39) |
T152A |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
R8367:Zfp366
|
UTSW |
13 |
99,380,551 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- GCTTCGATTGCTCAGGAGAG -3'
(R):5'- TAGCTGTCGTCGATCTGGAC -3'
Sequencing Primer
(F):5'- CTACTTTTCCCGCAGCCACAG -3'
(R):5'- GTCGATCTGGACGTTCACG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation