Incidental Mutation 'R1226:Zfyve28'
| ID |
152225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve28
|
| Ensembl Gene |
ENSMUSG00000037224 |
| Gene Name |
zinc finger, FYVE domain containing 28 |
| Synonyms |
9630058O20Rik |
| MMRRC Submission |
039295-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1226 (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 T
at 34374408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 535
(H535Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094868]
|
| AlphaFold |
Q6ZPK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094868
AA Change: H535Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
AA Change: H535Q
| 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: 99.3%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Abcd2 |
G |
T |
15: 91,075,246 (GRCm39) |
A189E |
probably benign |
Het |
| Ahcy |
T |
C |
2: 154,906,817 (GRCm39) |
T159A |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,669,560 (GRCm39) |
V84A |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,832,748 (GRCm39) |
T1036M |
probably benign |
Het |
| Ccdc187 |
G |
T |
2: 26,166,133 (GRCm39) |
S765R |
probably damaging |
Het |
| Cfap210 |
A |
G |
2: 69,617,553 (GRCm39) |
M76T |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,469,941 (GRCm39) |
R862* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,430,778 (GRCm39) |
D71G |
probably damaging |
Het |
| Ctif |
CTGTGTCCGGTGT |
CTGT |
18: 75,654,650 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
A |
C |
14: 63,379,189 (GRCm39) |
Y267S |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,290,164 (GRCm39) |
I239N |
possibly damaging |
Het |
| Dna2 |
T |
C |
10: 62,796,203 (GRCm39) |
V544A |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,346,106 (GRCm39) |
F2364Y |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,811,355 (GRCm39) |
E2558V |
probably damaging |
Het |
| Gm10061 |
A |
C |
16: 88,948,169 (GRCm39) |
Y48S |
unknown |
Het |
| Herc1 |
T |
A |
9: 66,323,545 (GRCm39) |
M1353K |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lin7a |
T |
C |
10: 107,107,780 (GRCm39) |
V20A |
probably benign |
Het |
| Lsr |
T |
A |
7: 30,671,308 (GRCm39) |
I142F |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,964,285 (GRCm39) |
T275I |
possibly damaging |
Het |
| Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
| Mrpl32 |
A |
G |
13: 14,786,096 (GRCm39) |
I74T |
probably benign |
Het |
| Nek11 |
C |
T |
9: 105,270,091 (GRCm39) |
V44I |
probably damaging |
Het |
| Noa1 |
A |
G |
5: 77,455,402 (GRCm39) |
V438A |
possibly damaging |
Het |
| Or5an1c |
A |
C |
19: 12,218,950 (GRCm39) |
I25R |
probably benign |
Het |
| Or7g16 |
C |
T |
9: 18,727,266 (GRCm39) |
C108Y |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,313 (GRCm39) |
L701P |
probably damaging |
Het |
| Pde11a |
G |
A |
2: 75,988,698 (GRCm39) |
S481L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,491,861 (GRCm39) |
I602T |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,606,091 (GRCm39) |
R3* |
probably null |
Het |
| Reln |
A |
G |
5: 22,115,864 (GRCm39) |
L3048P |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,171,624 (GRCm39) |
I265N |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,248,656 (GRCm39) |
S636P |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,028,172 (GRCm39) |
I44V |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,523 (GRCm39) |
E1175V |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,907,903 (GRCm39) |
T1316P |
probably damaging |
Het |
| Ufc1 |
A |
C |
1: 171,116,810 (GRCm39) |
D119E |
probably benign |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,294 (GRCm39) |
F134S |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,560 (GRCm39) |
S1404P |
probably damaging |
Het |
| Zfp866 |
A |
G |
8: 70,218,940 (GRCm39) |
F227L |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTAGAGGCACTGATGACACTTCC -3'
(R):5'- GAACACATTTGAGTTGACGCAGGG -3'
Sequencing Primer
(F):5'- ACTGATGACACTTCCTGGGC -3'
(R):5'- ACCTGCCCTGGTAAAGGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation