Incidental Mutation 'R3694:Zfyve28'
ID |
268899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfyve28
|
Ensembl Gene |
ENSMUSG00000037224 |
Gene Name |
zinc finger, FYVE domain containing 28 |
Synonyms |
9630058O20Rik |
MMRRC Submission |
040689-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3694 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
34352237-34445793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34374812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 401
(F401L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094868]
|
AlphaFold |
Q6ZPK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094868
AA Change: F401L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092464 Gene: ENSMUSG00000037224 AA Change: F401L
Domain | Start | End | E-Value | Type |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
FYVE
|
827 |
896 |
8.73e-25 |
SMART |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130435
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201477
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
G |
7: 12,284,443 (GRCm39) |
I97V |
possibly damaging |
Het |
AI182371 |
A |
G |
2: 34,975,764 (GRCm39) |
C267R |
probably benign |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp8b1 |
G |
A |
18: 64,666,792 (GRCm39) |
T1135I |
possibly damaging |
Het |
Avil |
T |
C |
10: 126,844,199 (GRCm39) |
Y253H |
probably damaging |
Het |
Bcas3 |
G |
T |
11: 85,692,628 (GRCm39) |
V338L |
probably benign |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
Clcn7 |
T |
A |
17: 25,378,681 (GRCm39) |
I722N |
probably damaging |
Het |
Cnga3 |
T |
C |
1: 37,300,821 (GRCm39) |
Y552H |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,926,786 (GRCm39) |
|
probably null |
Het |
Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
Fads2b |
T |
G |
2: 85,324,454 (GRCm39) |
I291L |
probably benign |
Het |
Fbln5 |
T |
C |
12: 101,731,511 (GRCm39) |
N228D |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,553,230 (GRCm39) |
F393L |
probably damaging |
Het |
Gpr63 |
A |
G |
4: 25,007,993 (GRCm39) |
Y239C |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,133,827 (GRCm39) |
M408V |
probably benign |
Het |
Lztr1 |
G |
A |
16: 17,326,925 (GRCm39) |
A12T |
possibly damaging |
Het |
Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
Mutyh |
T |
A |
4: 116,673,651 (GRCm39) |
S146T |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,969,221 (GRCm39) |
K2460E |
probably damaging |
Het |
Or4p18 |
A |
T |
2: 88,232,540 (GRCm39) |
I246N |
possibly damaging |
Het |
Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
Ppfia4 |
G |
T |
1: 134,240,305 (GRCm39) |
T896K |
probably damaging |
Het |
Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Scn9a |
T |
G |
2: 66,392,749 (GRCm39) |
E281A |
probably benign |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Syt7 |
G |
T |
19: 10,413,000 (GRCm39) |
R265L |
possibly damaging |
Het |
Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
Vmn2r18 |
A |
G |
5: 151,508,033 (GRCm39) |
F364L |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,372,205 (GRCm39) |
L5* |
probably null |
Het |
|
Other mutations in Zfyve28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Zfyve28
|
APN |
5 |
34,400,539 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAGAGCTGTGAGTCTAGGCAG -3'
(R):5'- CAGAACTGGCCTGCTCAATG -3'
Sequencing Primer
(F):5'- TGAGTCTAGGCAGCTGCAG -3'
(R):5'- GCTCAATGCAGTATGATGATCAG -3'
|
Posted On |
2015-02-19 |