Incidental Mutation 'IGL01626:Zfp366'
| ID |
92738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp366
|
| Ensembl Gene |
ENSMUSG00000050919 |
| Gene Name |
zinc finger protein 366 |
| Synonyms |
DC-SCRIPT |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
IGL01626
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
99321331-99383540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99364920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 27
(H27R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056558]
|
| AlphaFold |
Q6NS86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056558
AA Change: H27R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060040
Gene: ENSMUSG00000050919
AA Change: H27R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,926,595 (GRCm39) |
D188G |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,465 (GRCm39) |
Y447C |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,585,090 (GRCm39) |
L915M |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 28,665,564 (GRCm39) |
E152D |
possibly damaging |
Het |
| Dnase2b |
A |
G |
3: 146,290,371 (GRCm39) |
|
probably null |
Het |
| Ecpas |
G |
A |
4: 58,832,814 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,005,181 (GRCm39) |
V1860A |
probably damaging |
Het |
| Fbxl5 |
C |
A |
5: 43,916,047 (GRCm39) |
G455V |
probably benign |
Het |
| Fpr-rs4 |
G |
A |
17: 18,242,493 (GRCm39) |
V167M |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,343 (GRCm39) |
Y153* |
probably null |
Het |
| Gnptab |
A |
G |
10: 88,273,357 (GRCm39) |
T1045A |
probably damaging |
Het |
| Gucy1a1 |
T |
A |
3: 82,015,926 (GRCm39) |
D354V |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,681 (GRCm39) |
V406A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,734,890 (GRCm39) |
F160S |
probably benign |
Het |
| Ice2 |
T |
G |
9: 69,314,614 (GRCm39) |
V42G |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,937,197 (GRCm39) |
Y406C |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,590,731 (GRCm39) |
T103I |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,131,359 (GRCm39) |
M1589L |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,913,238 (GRCm39) |
V644A |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,712 (GRCm39) |
D696G |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,220 (GRCm39) |
V8A |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,453,027 (GRCm39) |
D9G |
probably damaging |
Het |
| Nop14 |
T |
A |
5: 34,806,689 (GRCm39) |
K472* |
probably null |
Het |
| Npat |
T |
A |
9: 53,467,871 (GRCm39) |
D275E |
possibly damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,424,798 (GRCm39) |
T115A |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,627 (GRCm39) |
I13N |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,917,122 (GRCm39) |
N172S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,940,905 (GRCm39) |
S1086T |
possibly damaging |
Het |
| Pold1 |
C |
T |
7: 44,182,796 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
A |
G |
7: 144,035,456 (GRCm39) |
F1165L |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Ptgs2 |
G |
A |
1: 149,979,478 (GRCm39) |
R231H |
probably damaging |
Het |
| Rorc |
A |
G |
3: 94,296,094 (GRCm39) |
D91G |
probably damaging |
Het |
| Scaper |
C |
T |
9: 55,819,335 (GRCm39) |
V127M |
possibly damaging |
Het |
| Sema3g |
A |
T |
14: 30,943,684 (GRCm39) |
Y188F |
probably damaging |
Het |
| Slc45a3 |
G |
T |
1: 131,906,725 (GRCm39) |
A400S |
possibly damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,891,452 (GRCm39) |
H1973L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,750,609 (GRCm39) |
Y359H |
probably damaging |
Het |
| Stx16 |
T |
G |
2: 173,935,813 (GRCm39) |
I248S |
probably damaging |
Het |
| Sytl3 |
A |
G |
17: 7,002,839 (GRCm39) |
R287G |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,609,856 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,918,637 (GRCm39) |
L659P |
probably damaging |
Het |
| Ttc13 |
G |
A |
8: 125,400,477 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,590,213 (GRCm39) |
|
probably null |
Het |
| Vldlr |
G |
T |
19: 27,221,173 (GRCm39) |
R613L |
probably damaging |
Het |
| Wdr77 |
C |
T |
3: 105,867,002 (GRCm39) |
R35* |
probably null |
Het |
| Zc3h14 |
T |
G |
12: 98,745,445 (GRCm39) |
I478R |
possibly 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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation