Incidental Mutation 'R1592:Wdfy1'
ID |
175653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdfy1
|
Ensembl Gene |
ENSMUSG00000073643 |
Gene Name |
WD repeat and FYVE domain containing 1 |
Synonyms |
1700013B03Rik, 1700120F24Rik, Jr1 |
MMRRC Submission |
039629-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R1592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
79679979-79753764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79683972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 388
(R388C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113512]
[ENSMUST00000113513]
[ENSMUST00000113514]
[ENSMUST00000113515]
[ENSMUST00000187005]
|
AlphaFold |
E9Q4P1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113512
AA Change: R388C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109140 Gene: ENSMUSG00000073643 AA Change: R388C
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
4.95e-4 |
SMART |
WD40
|
56 |
96 |
5.5e1 |
SMART |
WD40
|
103 |
142 |
1.19e0 |
SMART |
WD40
|
145 |
183 |
2.84e2 |
SMART |
WD40
|
188 |
227 |
1.13e-7 |
SMART |
WD40
|
231 |
270 |
1.22e-3 |
SMART |
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113513
AA Change: R388C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109141 Gene: ENSMUSG00000073643 AA Change: R388C
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
4.95e-4 |
SMART |
WD40
|
56 |
96 |
5.5e1 |
SMART |
WD40
|
103 |
142 |
1.19e0 |
SMART |
WD40
|
145 |
183 |
2.84e2 |
SMART |
WD40
|
188 |
227 |
1.13e-7 |
SMART |
WD40
|
231 |
270 |
1.22e-3 |
SMART |
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113514
AA Change: R388C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109142 Gene: ENSMUSG00000073643 AA Change: R388C
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
4.95e-4 |
SMART |
WD40
|
56 |
96 |
5.5e1 |
SMART |
WD40
|
103 |
142 |
1.19e0 |
SMART |
WD40
|
145 |
183 |
2.84e2 |
SMART |
WD40
|
188 |
227 |
1.13e-7 |
SMART |
WD40
|
231 |
270 |
1.22e-3 |
SMART |
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113515
AA Change: R388C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109143 Gene: ENSMUSG00000073643 AA Change: R388C
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
4.95e-4 |
SMART |
WD40
|
56 |
96 |
5.5e1 |
SMART |
WD40
|
103 |
142 |
1.19e0 |
SMART |
WD40
|
145 |
183 |
2.84e2 |
SMART |
WD40
|
188 |
227 |
1.13e-7 |
SMART |
WD40
|
231 |
270 |
1.22e-3 |
SMART |
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187005
|
SMART Domains |
Protein: ENSMUSP00000139961 Gene: ENSMUSG00000073643
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
3.2e-6 |
SMART |
Blast:WD40
|
56 |
93 |
1e-21 |
BLAST |
|
Meta Mutation Damage Score |
0.6326 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
probably damaging |
Het |
|
Other mutations in Wdfy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01131:Wdfy1
|
APN |
1 |
79,691,589 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01473:Wdfy1
|
APN |
1 |
79,685,182 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01934:Wdfy1
|
APN |
1 |
79,717,833 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02052:Wdfy1
|
APN |
1 |
79,692,661 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02969:Wdfy1
|
APN |
1 |
79,691,588 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03077:Wdfy1
|
APN |
1 |
79,692,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03157:Wdfy1
|
APN |
1 |
79,684,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R1679:Wdfy1
|
UTSW |
1 |
79,685,192 (GRCm39) |
nonsense |
probably null |
|
R1770:Wdfy1
|
UTSW |
1 |
79,686,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R2495:Wdfy1
|
UTSW |
1 |
79,685,222 (GRCm39) |
missense |
probably null |
1.00 |
R3821:Wdfy1
|
UTSW |
1 |
79,684,017 (GRCm39) |
missense |
probably benign |
0.00 |
R4431:Wdfy1
|
UTSW |
1 |
79,691,583 (GRCm39) |
nonsense |
probably null |
|
R8489:Wdfy1
|
UTSW |
1 |
79,739,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R8923:Wdfy1
|
UTSW |
1 |
79,684,017 (GRCm39) |
missense |
probably benign |
0.00 |
R9008:Wdfy1
|
UTSW |
1 |
79,692,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCCCATCAGGGTTAGGAAATCAC -3'
(R):5'- GGACCAAAGCCTCTACGGTTGAAAC -3'
Sequencing Primer
(F):5'- GGTTAGGAAATCACAAATACCTGCTC -3'
(R):5'- GTGTGTAAGCCATCTACATTGC -3'
|
Posted On |
2014-04-24 |