Incidental Mutation 'IGL00485:Zfyve27'
ID |
15027 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfyve27
|
Ensembl Gene |
ENSMUSG00000018820 |
Gene Name |
zinc finger, FYVE domain containing 27 |
Synonyms |
9530077C24Rik, 2210011N02Rik, protrudin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL00485
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
42159006-42183032 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 42171872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 229
(C229S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099443]
[ENSMUST00000168130]
[ENSMUST00000169536]
|
AlphaFold |
Q3TXX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099443
AA Change: C229S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097042 Gene: ENSMUSG00000018820 AA Change: C229S
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: ENSMUST00000164460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165783
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168130
AA Change: C135S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129561 Gene: ENSMUSG00000018820 AA Change: C135S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169536
AA Change: C229S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130684 Gene: ENSMUSG00000018820 AA Change: C229S
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 |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
G |
A |
11: 97,383,497 (GRCm39) |
|
probably benign |
Het |
Arhgef37 |
G |
A |
18: 61,656,942 (GRCm39) |
T41I |
probably damaging |
Het |
Brms1 |
A |
C |
19: 5,099,070 (GRCm39) |
|
probably benign |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Col4a2 |
A |
G |
8: 11,489,012 (GRCm39) |
M1133V |
probably benign |
Het |
Ctps1 |
T |
C |
4: 120,410,141 (GRCm39) |
Y314C |
probably damaging |
Het |
Defa30 |
T |
A |
8: 21,625,467 (GRCm39) |
M77K |
probably benign |
Het |
Eif3a |
T |
C |
19: 60,758,328 (GRCm39) |
R817G |
unknown |
Het |
Entrep1 |
G |
A |
19: 23,962,086 (GRCm39) |
R306W |
probably damaging |
Het |
Ftdc2 |
A |
G |
16: 58,455,854 (GRCm39) |
Y140H |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,555,962 (GRCm39) |
S1725G |
possibly damaging |
Het |
Hmgxb4 |
T |
C |
8: 75,756,131 (GRCm39) |
S545P |
probably damaging |
Het |
Hrob |
C |
T |
11: 102,146,783 (GRCm39) |
S353F |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 65,002,522 (GRCm39) |
E1049G |
possibly damaging |
Het |
Mug1 |
T |
C |
6: 121,864,375 (GRCm39) |
V1424A |
probably benign |
Het |
Nlrp2 |
A |
G |
7: 5,340,547 (GRCm39) |
V89A |
probably benign |
Het |
Osbpl11 |
T |
G |
16: 33,062,115 (GRCm39) |
W741G |
probably damaging |
Het |
Pam |
A |
G |
1: 97,750,678 (GRCm39) |
V914A |
possibly damaging |
Het |
Phldb2 |
T |
A |
16: 45,577,551 (GRCm39) |
I1117F |
possibly damaging |
Het |
Pign |
A |
T |
1: 105,525,448 (GRCm39) |
L460* |
probably null |
Het |
Pramel31 |
G |
A |
4: 144,090,012 (GRCm39) |
V351I |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,238,842 (GRCm39) |
I196F |
possibly damaging |
Het |
Stk36 |
T |
C |
1: 74,673,244 (GRCm39) |
S1044P |
probably benign |
Het |
Trim43b |
T |
C |
9: 88,973,695 (GRCm39) |
T13A |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,618,995 (GRCm39) |
Y49C |
possibly damaging |
Het |
Urb2 |
T |
C |
8: 124,755,433 (GRCm39) |
I380T |
probably damaging |
Het |
|
Other mutations in Zfyve27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R6638:Zfyve27
|
UTSW |
19 |
42,169,936 (GRCm39) |
splice 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 |
|
Posted On |
2012-12-06 |