Incidental Mutation 'IGL00497:Zfyve28'
ID |
15028 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfyve28
|
Ensembl Gene |
ENSMUSG00000037224 |
Gene Name |
zinc finger, FYVE domain containing 28 |
Synonyms |
9630058O20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00497
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
34352237-34445793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34400539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 53
(V53A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094868]
[ENSMUST00000114368]
|
AlphaFold |
Q6ZPK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094868
AA Change: V53A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092464 Gene: ENSMUSG00000037224 AA Change: V53A
Domain | Start | End | E-Value | Type |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
FYVE
|
827 |
896 |
8.73e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114368
AA Change: V53A
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114369
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114370
|
SMART Domains |
Protein: ENSMUSP00000110010 Gene: ENSMUSG00000037224
Domain | Start | End | E-Value | Type |
coiled coil region
|
310 |
344 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
G |
A |
3: 79,538,598 (GRCm39) |
|
probably benign |
Het |
Aatk |
C |
T |
11: 119,901,012 (GRCm39) |
R1128Q |
probably benign |
Het |
Acot6 |
C |
T |
12: 84,156,212 (GRCm39) |
R387C |
probably damaging |
Het |
Adam11 |
A |
G |
11: 102,660,973 (GRCm39) |
E118G |
probably damaging |
Het |
Adcyap1r1 |
G |
A |
6: 55,449,264 (GRCm39) |
V73I |
probably damaging |
Het |
Apol8 |
T |
C |
15: 77,634,214 (GRCm39) |
T121A |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,163,759 (GRCm39) |
N1076D |
probably damaging |
Het |
Ccdc91 |
C |
A |
6: 147,508,485 (GRCm39) |
Q404K |
unknown |
Het |
Cpt1b |
T |
C |
15: 89,306,496 (GRCm39) |
K294R |
probably benign |
Het |
Dnah6 |
A |
C |
6: 73,172,744 (GRCm39) |
V238G |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,663,536 (GRCm39) |
S1920P |
probably damaging |
Het |
Gcfc2 |
A |
T |
6: 81,934,951 (GRCm39) |
I737L |
probably benign |
Het |
Gmeb1 |
A |
G |
4: 131,955,296 (GRCm39) |
V293A |
probably benign |
Het |
Gpi-ps |
T |
C |
8: 5,690,563 (GRCm39) |
|
noncoding transcript |
Het |
Hibch |
A |
G |
1: 52,924,349 (GRCm39) |
|
probably benign |
Het |
Ifnab |
A |
G |
4: 88,609,419 (GRCm39) |
Y16H |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,451,132 (GRCm39) |
V155A |
probably damaging |
Het |
Lrr1 |
A |
G |
12: 69,221,356 (GRCm39) |
H166R |
probably benign |
Het |
Map4k5 |
G |
T |
12: 69,892,506 (GRCm39) |
A141E |
probably damaging |
Het |
Mettl17 |
A |
T |
14: 52,126,292 (GRCm39) |
K233N |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,862,204 (GRCm39) |
L740S |
probably damaging |
Het |
Mpdz |
A |
C |
4: 81,253,979 (GRCm39) |
I1051S |
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,058,834 (GRCm39) |
F944S |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,233,314 (GRCm39) |
Y611C |
probably damaging |
Het |
Npat |
A |
G |
9: 53,478,100 (GRCm39) |
N951D |
possibly damaging |
Het |
Osmr |
T |
C |
15: 6,876,547 (GRCm39) |
S126G |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,655,206 (GRCm39) |
Y1755C |
probably damaging |
Het |
Phf14 |
T |
C |
6: 11,941,423 (GRCm39) |
|
probably benign |
Het |
Prex2 |
T |
A |
1: 11,256,876 (GRCm39) |
M1196K |
possibly damaging |
Het |
Prkd1 |
A |
T |
12: 50,430,264 (GRCm39) |
D614E |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,124,967 (GRCm39) |
L794P |
probably damaging |
Het |
Rb1 |
C |
T |
14: 73,502,038 (GRCm39) |
R449H |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,474,652 (GRCm39) |
D469G |
probably benign |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Sgo1 |
A |
G |
17: 53,984,130 (GRCm39) |
|
probably benign |
Het |
Slc11a1 |
A |
G |
1: 74,421,057 (GRCm39) |
|
probably null |
Het |
Snw1 |
A |
G |
12: 87,499,350 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,339,533 (GRCm39) |
I143T |
probably damaging |
Het |
Tcta |
A |
T |
9: 108,183,115 (GRCm39) |
L10Q |
probably damaging |
Het |
Tha1 |
T |
C |
11: 117,761,831 (GRCm39) |
|
probably benign |
Het |
Trmt1 |
T |
C |
8: 85,422,138 (GRCm39) |
M254T |
possibly damaging |
Het |
Trps1 |
T |
A |
15: 50,524,703 (GRCm39) |
M887L |
possibly damaging |
Het |
|
Other mutations in Zfyve28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02201:Zfyve28
|
APN |
5 |
34,400,549 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4418001:Zfyve28
|
UTSW |
5 |
34,390,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Zfyve28
|
UTSW |
5 |
34,389,550 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1226:Zfyve28
|
UTSW |
5 |
34,374,408 (GRCm39) |
missense |
probably benign |
0.00 |
R1290:Zfyve28
|
UTSW |
5 |
34,356,145 (GRCm39) |
missense |
probably benign |
0.00 |
R1351:Zfyve28
|
UTSW |
5 |
34,389,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Zfyve28
|
UTSW |
5 |
34,374,590 (GRCm39) |
missense |
probably damaging |
0.99 |
R2062:Zfyve28
|
UTSW |
5 |
34,391,681 (GRCm39) |
missense |
probably null |
0.73 |
R2212:Zfyve28
|
UTSW |
5 |
34,357,028 (GRCm39) |
missense |
probably benign |
0.02 |
R2443:Zfyve28
|
UTSW |
5 |
34,374,238 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2851:Zfyve28
|
UTSW |
5 |
34,354,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R2852:Zfyve28
|
UTSW |
5 |
34,354,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R3412:Zfyve28
|
UTSW |
5 |
34,357,028 (GRCm39) |
missense |
probably benign |
0.02 |
R3413:Zfyve28
|
UTSW |
5 |
34,357,028 (GRCm39) |
missense |
probably benign |
0.02 |
R3694:Zfyve28
|
UTSW |
5 |
34,374,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Zfyve28
|
UTSW |
5 |
34,379,787 (GRCm39) |
intron |
probably benign |
|
R4700:Zfyve28
|
UTSW |
5 |
34,375,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4938:Zfyve28
|
UTSW |
5 |
34,390,698 (GRCm39) |
missense |
probably damaging |
0.99 |
R5384:Zfyve28
|
UTSW |
5 |
34,374,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R5908:Zfyve28
|
UTSW |
5 |
34,374,214 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5936:Zfyve28
|
UTSW |
5 |
34,382,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Zfyve28
|
UTSW |
5 |
34,356,216 (GRCm39) |
missense |
probably damaging |
0.99 |
R6862:Zfyve28
|
UTSW |
5 |
34,445,449 (GRCm39) |
missense |
probably benign |
0.10 |
R7172:Zfyve28
|
UTSW |
5 |
34,391,753 (GRCm39) |
missense |
probably benign |
0.42 |
R7243:Zfyve28
|
UTSW |
5 |
34,356,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R7366:Zfyve28
|
UTSW |
5 |
34,389,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R7598:Zfyve28
|
UTSW |
5 |
34,393,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Zfyve28
|
UTSW |
5 |
34,400,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R7752:Zfyve28
|
UTSW |
5 |
34,382,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7861:Zfyve28
|
UTSW |
5 |
34,374,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7878:Zfyve28
|
UTSW |
5 |
34,356,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R7901:Zfyve28
|
UTSW |
5 |
34,382,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R8116:Zfyve28
|
UTSW |
5 |
34,374,944 (GRCm39) |
missense |
probably damaging |
0.96 |
R8483:Zfyve28
|
UTSW |
5 |
34,393,480 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8799:Zfyve28
|
UTSW |
5 |
34,390,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R8883:Zfyve28
|
UTSW |
5 |
34,375,211 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8912:Zfyve28
|
UTSW |
5 |
34,374,655 (GRCm39) |
missense |
probably benign |
0.01 |
R9179:Zfyve28
|
UTSW |
5 |
34,382,376 (GRCm39) |
missense |
probably benign |
0.01 |
R9228:Zfyve28
|
UTSW |
5 |
34,374,788 (GRCm39) |
missense |
probably benign |
|
R9381:Zfyve28
|
UTSW |
5 |
34,373,932 (GRCm39) |
missense |
probably benign |
0.09 |
R9432:Zfyve28
|
UTSW |
5 |
34,400,633 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9509:Zfyve28
|
UTSW |
5 |
34,354,892 (GRCm39) |
missense |
probably benign |
0.36 |
|
Posted On |
2012-12-06 |