Incidental Mutation 'R6638:Zfyve27'
ID |
526335 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfyve27
|
Ensembl Gene |
ENSMUSG00000018820 |
Gene Name |
zinc finger, FYVE domain containing 27 |
Synonyms |
9530077C24Rik, 2210011N02Rik, protrudin |
MMRRC Submission |
044759-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6638 (G1)
|
Quality Score |
199.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
42159006-42183032 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 42169936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099443]
[ENSMUST00000099443]
[ENSMUST00000168130]
[ENSMUST00000168130]
[ENSMUST00000169536]
[ENSMUST00000169536]
|
AlphaFold |
Q3TXX3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000099443
|
SMART Domains |
Protein: ENSMUSP00000097042 Gene: ENSMUSG00000018820
Domain | Start | End | E-Value | Type |
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
low complexity region
|
280 |
300 |
N/A |
INTRINSIC |
FYVE
|
335 |
408 |
2.52e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000099443
|
SMART Domains |
Protein: ENSMUSP00000097042 Gene: ENSMUSG00000018820
Domain | Start | End | E-Value | Type |
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
low complexity region
|
280 |
300 |
N/A |
INTRINSIC |
FYVE
|
335 |
408 |
2.52e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164455
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165783
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168130
|
SMART Domains |
Protein: ENSMUSP00000129561 Gene: ENSMUSG00000018820
Domain | Start | End | E-Value | Type |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168130
|
SMART Domains |
Protein: ENSMUSP00000129561 Gene: ENSMUSG00000018820
Domain | Start | End | E-Value | Type |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169536
|
SMART Domains |
Protein: ENSMUSP00000130684 Gene: ENSMUSG00000018820
Domain | Start | End | E-Value | Type |
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
low complexity region
|
280 |
290 |
N/A |
INTRINSIC |
FYVE
|
342 |
415 |
2.52e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169536
|
SMART Domains |
Protein: ENSMUSP00000130684 Gene: ENSMUSG00000018820
Domain | Start | End | E-Value | Type |
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
low complexity region
|
280 |
290 |
N/A |
INTRINSIC |
FYVE
|
342 |
415 |
2.52e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170184
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,451,521 (GRCm39) |
N868K |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,746,696 (GRCm39) |
S980P |
probably damaging |
Het |
Dlk1 |
A |
G |
12: 109,426,204 (GRCm39) |
E95G |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,012,263 (GRCm39) |
|
probably null |
Het |
Dppa2 |
A |
T |
16: 48,134,523 (GRCm39) |
H118L |
possibly damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,192,463 (GRCm39) |
S740P |
probably damaging |
Het |
Eva1b |
T |
C |
4: 126,043,265 (GRCm39) |
S102P |
probably benign |
Het |
Fndc3a |
G |
A |
14: 72,796,688 (GRCm39) |
R637* |
probably null |
Het |
Fras1 |
A |
T |
5: 96,905,953 (GRCm39) |
D3119V |
possibly damaging |
Het |
Hmgcr |
T |
C |
13: 96,795,490 (GRCm39) |
T360A |
probably benign |
Het |
Kif21a |
A |
G |
15: 90,850,610 (GRCm39) |
V1017A |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,936,822 (GRCm39) |
S556P |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,840,940 (GRCm39) |
F1366S |
probably benign |
Het |
Mtmr2 |
C |
A |
9: 13,707,429 (GRCm39) |
A327E |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Or9r3 |
T |
C |
10: 129,947,739 (GRCm39) |
T307A |
probably benign |
Het |
Ovch2 |
A |
T |
7: 107,388,301 (GRCm39) |
H426Q |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,301,382 (GRCm39) |
V1506E |
probably damaging |
Het |
Poldip3 |
A |
T |
15: 83,017,401 (GRCm39) |
S225T |
probably damaging |
Het |
Polr3h |
A |
G |
15: 81,802,505 (GRCm39) |
L108P |
possibly damaging |
Het |
Prss44 |
G |
A |
9: 110,646,271 (GRCm39) |
V333M |
probably damaging |
Het |
Ptprk |
C |
T |
10: 28,471,807 (GRCm39) |
R1432C |
probably damaging |
Het |
Rpl36al |
A |
G |
12: 69,229,708 (GRCm39) |
L68P |
probably damaging |
Het |
Tagap |
T |
C |
17: 8,145,906 (GRCm39) |
S26P |
possibly damaging |
Het |
Vapb |
A |
G |
2: 173,613,362 (GRCm39) |
K87R |
probably damaging |
Het |
Vmn1r35 |
G |
A |
6: 66,655,848 (GRCm39) |
T274I |
possibly damaging |
Het |
Wdsub1 |
A |
T |
2: 59,700,785 (GRCm39) |
|
probably benign |
Het |
Xrcc5 |
C |
T |
1: 72,422,521 (GRCm39) |
S651L |
possibly damaging |
Het |
|
Other mutations in Zfyve27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Zfyve27
|
APN |
19 |
42,171,872 (GRCm39) |
missense |
probably benign |
|
IGL02040:Zfyve27
|
APN |
19 |
42,167,830 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02048:Zfyve27
|
APN |
19 |
42,174,296 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02135:Zfyve27
|
APN |
19 |
42,172,575 (GRCm39) |
missense |
probably damaging |
1.00 |
Forgotten
|
UTSW |
19 |
42,178,016 (GRCm39) |
missense |
probably damaging |
1.00 |
ignored
|
UTSW |
19 |
42,160,170 (GRCm39) |
missense |
probably benign |
0.01 |
overlooked
|
UTSW |
19 |
42,171,096 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0388:Zfyve27
|
UTSW |
19 |
42,178,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R1589:Zfyve27
|
UTSW |
19 |
42,160,184 (GRCm39) |
critical splice donor site |
probably null |
|
R1908:Zfyve27
|
UTSW |
19 |
42,159,987 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R2151:Zfyve27
|
UTSW |
19 |
42,160,170 (GRCm39) |
missense |
probably benign |
0.01 |
R2204:Zfyve27
|
UTSW |
19 |
42,171,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R2205:Zfyve27
|
UTSW |
19 |
42,171,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R5800:Zfyve27
|
UTSW |
19 |
42,171,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R5819:Zfyve27
|
UTSW |
19 |
42,171,935 (GRCm39) |
missense |
probably benign |
0.00 |
R5870:Zfyve27
|
UTSW |
19 |
42,160,110 (GRCm39) |
missense |
probably benign |
0.01 |
R5959:Zfyve27
|
UTSW |
19 |
42,167,887 (GRCm39) |
missense |
unknown |
|
R6217:Zfyve27
|
UTSW |
19 |
42,178,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R6281:Zfyve27
|
UTSW |
19 |
42,171,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R6337:Zfyve27
|
UTSW |
19 |
42,171,096 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7438:Zfyve27
|
UTSW |
19 |
42,177,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8350:Zfyve27
|
UTSW |
19 |
42,167,911 (GRCm39) |
missense |
probably benign |
0.34 |
R9175:Zfyve27
|
UTSW |
19 |
42,169,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Zfyve27
|
UTSW |
19 |
42,165,856 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTCACTTCAGCAGGGTTC -3'
(R):5'- AGGCATTGGCTTCACTGGAG -3'
Sequencing Primer
(F):5'- TCCCGAGGCGGTTGGAATG -3'
(R):5'- AGACAGGAGGGATCCACTC -3'
|
Posted On |
2018-06-22 |