Incidental Mutation 'R8883:Zfyve28'
| ID |
677097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve28
|
| Ensembl Gene |
ENSMUSG00000037224 |
| Gene Name |
zinc finger, FYVE domain containing 28 |
| Synonyms |
9630058O20Rik |
| MMRRC Submission |
068689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34352237-34445793 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 34375211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094868]
[ENSMUST00000094868]
[ENSMUST00000094868]
[ENSMUST00000094868]
|
| AlphaFold |
Q6ZPK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094868
|
| SMART Domains |
Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
FYVE
|
827 |
896 |
8.73e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094868
|
| SMART Domains |
Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
FYVE
|
827 |
896 |
8.73e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094868
|
| SMART Domains |
Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
FYVE
|
827 |
896 |
8.73e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094868
|
| SMART Domains |
Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
FYVE
|
827 |
896 |
8.73e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,283,168 (GRCm39) |
S3197P |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,486,992 (GRCm39) |
S315P |
probably damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,246,122 (GRCm39) |
L29Q |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,990,227 (GRCm39) |
P1842S |
probably damaging |
Het |
| Ccnb1ip1 |
G |
C |
14: 51,027,359 (GRCm39) |
P248A |
probably benign |
Het |
| Cep76 |
T |
C |
18: 67,766,540 (GRCm39) |
Q262R |
probably benign |
Het |
| Cox10 |
T |
C |
11: 63,884,775 (GRCm39) |
E210G |
probably damaging |
Het |
| Dcaf1 |
T |
G |
9: 106,724,839 (GRCm39) |
|
probably benign |
Het |
| Dgki |
A |
T |
6: 36,993,608 (GRCm39) |
D584E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,121,243 (GRCm39) |
E428G |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,753,922 (GRCm39) |
F807L |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,305,044 (GRCm39) |
V533A |
|
Het |
| Fermt3 |
G |
T |
19: 6,980,600 (GRCm39) |
D322E |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,809,524 (GRCm39) |
V1948L |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,442,204 (GRCm39) |
D206G |
probably benign |
Het |
| Gjd3 |
A |
G |
11: 102,691,769 (GRCm39) |
V78A |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Hmces |
G |
A |
6: 87,910,396 (GRCm39) |
A269T |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,814,025 (GRCm39) |
N2434K |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,361,342 (GRCm39) |
S49T |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lap3 |
C |
A |
5: 45,669,272 (GRCm39) |
H474N |
probably benign |
Het |
| Ldlrad1 |
A |
G |
4: 107,073,412 (GRCm39) |
Y149C |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,747 (GRCm39) |
V62A |
probably benign |
Het |
| Map3k14 |
T |
G |
11: 103,130,278 (GRCm39) |
Q213P |
probably benign |
Het |
| Mboat2 |
T |
G |
12: 25,009,033 (GRCm39) |
H478Q |
|
Het |
| Mepce |
C |
A |
5: 137,784,779 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,355,636 (GRCm39) |
R233H |
|
Het |
| Muc2 |
A |
G |
7: 141,287,469 (GRCm39) |
H216R |
probably damaging |
Het |
| Ntmt1 |
G |
A |
2: 30,712,466 (GRCm39) |
A170T |
probably benign |
Het |
| Or2ag15 |
A |
G |
7: 106,340,274 (GRCm39) |
I289T |
possibly damaging |
Het |
| Or2d3 |
A |
C |
7: 106,490,536 (GRCm39) |
M260R |
probably damaging |
Het |
| Or5w17 |
T |
A |
2: 87,583,838 (GRCm39) |
L166F |
probably damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,083 (GRCm39) |
H229R |
probably benign |
Het |
| Pebp4 |
G |
T |
14: 70,085,098 (GRCm39) |
C52F |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,085 (GRCm39) |
Y274N |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,424,468 (GRCm39) |
S358P |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,767,368 (GRCm39) |
I252T |
probably benign |
Het |
| Prss3b |
G |
T |
6: 41,009,305 (GRCm39) |
Y176* |
probably null |
Het |
| Racgap1 |
A |
G |
15: 99,526,540 (GRCm39) |
V341A |
probably benign |
Het |
| Rprd1a |
T |
C |
18: 24,640,260 (GRCm39) |
D172G |
possibly damaging |
Het |
| Spg11 |
T |
C |
2: 121,943,561 (GRCm39) |
D197G |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,474 (GRCm39) |
D339G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,021,145 (GRCm39) |
K574N |
possibly damaging |
Het |
| Srrd |
A |
T |
5: 112,487,790 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,080,257 (GRCm39) |
H547L |
unknown |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tap1 |
T |
C |
17: 34,406,867 (GRCm39) |
V5A |
unknown |
Het |
| Tent5c |
C |
A |
3: 100,379,707 (GRCm39) |
A350S |
probably benign |
Het |
| Usp45 |
G |
A |
4: 21,825,006 (GRCm39) |
G586D |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,855,479 (GRCm39) |
A2515S |
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
|
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 |
|
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'- CATTGAGCAGGCCAGTTCTG -3'
(R):5'- GTAGTCACAGCTATTCACACTTCC -3'
Sequencing Primer
(F):5'- GGCCAGTTCTGCCTCTG -3'
(R):5'- CACACCTCGTGGTATAAGAGAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation