Incidental Mutation 'R5800:Zfyve27'
| ID |
447377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve27
|
| Ensembl Gene |
ENSMUSG00000018820 |
| Gene Name |
zinc finger, FYVE domain containing 27 |
| Synonyms |
9530077C24Rik, 2210011N02Rik, protrudin |
| MMRRC Submission |
043389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42159006-42183032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42171102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 191
(Y191H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099443]
[ENSMUST00000168130]
[ENSMUST00000169536]
|
| AlphaFold |
Q3TXX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099443
AA Change: Y191H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: Y191H
| 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 damaging
Transcript: ENSMUST00000168130
AA Change: Y97H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820
AA Change: Y97H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169536
AA Change: Y191H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: Y191H
| 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
|
| Meta Mutation Damage Score |
0.4128 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (50/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
| Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
| B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
| Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
| Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
| Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
| Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
| H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
| Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
| Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
| Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
| Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
| Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
| Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
| Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGCGATGTGGTACTTC -3'
(R):5'- AAACAGGTCCTCTGAGTGGG -3'
Sequencing Primer
(F):5'- ACAGATGTTCCACACTGGTTTG -3'
(R):5'- TCTGAGTGGGCCAGGAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation