Incidental Mutation 'R6281:Zfyve27'
| ID |
507979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve27
|
| Ensembl Gene |
ENSMUSG00000018820 |
| Gene Name |
zinc finger, FYVE domain containing 27 |
| Synonyms |
9530077C24Rik, 2210011N02Rik, protrudin |
| MMRRC Submission |
044451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42159006-42183032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42171194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 127
(N127K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099443]
[ENSMUST00000168130]
[ENSMUST00000169536]
|
| AlphaFold |
Q3TXX3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099443
AA Change: N221K
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: N221K
| 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 damaging
Transcript: ENSMUST00000168130
AA Change: N127K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820
AA Change: N127K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169536
AA Change: N221K
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: N221K
| 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 |
0.6067 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,258,620 (GRCm39) |
C166F |
probably damaging |
Het |
| Aida |
C |
T |
1: 183,103,145 (GRCm39) |
A237V |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,751,965 (GRCm39) |
T692A |
possibly damaging |
Het |
| As3mt |
T |
C |
19: 46,713,362 (GRCm39) |
V303A |
possibly damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,641,423 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
G |
A |
13: 93,799,668 (GRCm39) |
P256L |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,048,385 (GRCm39) |
I140T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,302,114 (GRCm39) |
H194Q |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,360,148 (GRCm39) |
R466L |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,135,044 (GRCm39) |
V279A |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,105 (GRCm39) |
T75A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm3512 |
T |
A |
14: 7,159,254 (GRCm38) |
D7V |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,957 (GRCm39) |
F44S |
probably damaging |
Het |
| Ighv1-72 |
C |
A |
12: 115,722,023 (GRCm39) |
C5F |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,972 (GRCm39) |
L474P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 25,007,678 (GRCm39) |
V297A |
probably benign |
Het |
| Muc2 |
C |
G |
7: 141,306,140 (GRCm39) |
C276W |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,371 (GRCm39) |
S141G |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,894 (GRCm39) |
*306R |
probably null |
Het |
| Or5p80 |
T |
G |
7: 108,229,609 (GRCm39) |
S137A |
probably benign |
Het |
| Pax5 |
T |
G |
4: 44,691,955 (GRCm39) |
E97A |
probably benign |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,426 (GRCm39) |
D478V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf21b |
G |
T |
15: 84,738,946 (GRCm39) |
D38E |
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,101,881 (GRCm39) |
K146R |
probably benign |
Het |
| Rad23a |
A |
T |
8: 85,564,739 (GRCm39) |
M166K |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,936,816 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,040,782 (GRCm39) |
I336N |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,219 (GRCm39) |
M358K |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,114 (GRCm39) |
M939R |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,442,453 (GRCm39) |
T167S |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,172 (GRCm39) |
V2577M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vezt |
G |
A |
10: 93,809,808 (GRCm39) |
R578C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vwa3b |
T |
A |
1: 37,163,063 (GRCm39) |
L562Q |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,805 (GRCm39) |
F373S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,764,708 (GRCm39) |
V693I |
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 |
|
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 |
|
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'- TGTGTTCACCCAGGTTCTATGG -3'
(R):5'- AGCCACCTTAGAGGACTGTC -3'
Sequencing Primer
(F):5'- ACCCAGGTTCTATGGCGCTC -3'
(R):5'- ACCTTAGAGGACTGTCAGCCC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation