Incidental Mutation 'R8489:Wdfy1'
ID |
657867 |
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 |
067932-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R8489 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
79679979-79753764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79739368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 17
(L17P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048820]
[ENSMUST00000113510]
[ENSMUST00000113511]
[ENSMUST00000113512]
[ENSMUST00000113513]
[ENSMUST00000113514]
[ENSMUST00000113515]
[ENSMUST00000125641]
[ENSMUST00000143368]
[ENSMUST00000187005]
|
AlphaFold |
E9Q4P1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048820
AA Change: L17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040224 Gene: ENSMUSG00000073643 AA Change: L17P
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 |
Blast:WD40
|
145 |
163 |
2e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113510
AA Change: L17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109138 Gene: ENSMUSG00000073643 AA Change: L17P
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 |
Blast:WD40
|
145 |
163 |
2e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113511
AA Change: L17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109139 Gene: ENSMUSG00000073643 AA Change: L17P
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 |
Blast:WD40
|
145 |
163 |
2e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113512
AA Change: L17P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109140 Gene: ENSMUSG00000073643 AA Change: L17P
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: L17P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109141 Gene: ENSMUSG00000073643 AA Change: L17P
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: L17P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109142 Gene: ENSMUSG00000073643 AA Change: L17P
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: L17P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109143 Gene: ENSMUSG00000073643 AA Change: L17P
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: ENSMUST00000125641
AA Change: L17P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118431 Gene: ENSMUSG00000073643 AA Change: L17P
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
4.95e-4 |
SMART |
Blast:WD40
|
56 |
75 |
3e-7 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143368
AA Change: L17P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123303 Gene: ENSMUSG00000073643 AA Change: L17P
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 |
Blast:WD40
|
145 |
182 |
6e-20 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187005
AA Change: L17P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139961 Gene: ENSMUSG00000073643 AA Change: L17P
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
3.2e-6 |
SMART |
Blast:WD40
|
56 |
93 |
1e-21 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI661453 |
C |
A |
17: 47,777,254 (GRCm39) |
|
probably benign |
Het |
Apc2 |
T |
G |
10: 80,143,298 (GRCm39) |
L466R |
probably damaging |
Het |
Baz1b |
C |
A |
5: 135,245,709 (GRCm39) |
P386H |
probably damaging |
Het |
Ccdc149 |
T |
C |
5: 52,533,999 (GRCm39) |
D389G |
probably benign |
Het |
Cit |
T |
A |
5: 116,083,962 (GRCm39) |
|
probably null |
Het |
Cmas |
C |
A |
6: 142,702,596 (GRCm39) |
A33E |
probably benign |
Het |
Dcaf7 |
A |
G |
11: 105,942,743 (GRCm39) |
N230S |
probably damaging |
Het |
Dcun1d5 |
C |
A |
9: 7,206,837 (GRCm39) |
|
probably benign |
Het |
Dennd5b |
T |
A |
6: 148,986,389 (GRCm39) |
D58V |
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,831 (GRCm39) |
Q477K |
probably damaging |
Het |
Eva1c |
A |
G |
16: 90,672,999 (GRCm39) |
N90S |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,804,435 (GRCm39) |
I1848F |
possibly damaging |
Het |
Fgfr2 |
T |
G |
7: 129,769,534 (GRCm39) |
M522L |
probably benign |
Het |
Fshr |
C |
A |
17: 89,293,795 (GRCm39) |
K294N |
probably benign |
Het |
Gja10 |
T |
C |
4: 32,601,866 (GRCm39) |
I173V |
probably benign |
Het |
Gmnn |
A |
G |
13: 24,941,614 (GRCm39) |
S32P |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,487,180 (GRCm39) |
N95D |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,758,219 (GRCm39) |
T715A |
probably damaging |
Het |
Klrc2 |
A |
G |
6: 129,635,787 (GRCm39) |
S97P |
probably benign |
Het |
Lrrn4 |
G |
A |
2: 132,721,364 (GRCm39) |
S151L |
probably benign |
Het |
Man2a1 |
G |
T |
17: 64,908,765 (GRCm39) |
S12I |
possibly damaging |
Het |
Mplkipl1 |
T |
C |
19: 61,164,085 (GRCm39) |
T117A |
probably damaging |
Het |
Mrgprb8 |
T |
A |
7: 48,038,701 (GRCm39) |
V124E |
possibly damaging |
Het |
Myo5c |
T |
C |
9: 75,180,128 (GRCm39) |
W690R |
probably damaging |
Het |
Ncapd2 |
T |
C |
6: 125,150,745 (GRCm39) |
K817E |
probably damaging |
Het |
Or51k2 |
T |
C |
7: 103,596,328 (GRCm39) |
I185T |
probably damaging |
Het |
Or5h27 |
A |
G |
16: 59,006,400 (GRCm39) |
*149Q |
probably null |
Het |
Or5p60 |
T |
A |
7: 107,724,372 (GRCm39) |
I33F |
probably benign |
Het |
Or8b50 |
T |
C |
9: 38,518,232 (GRCm39) |
M157T |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,709,038 (GRCm39) |
I759N |
probably damaging |
Het |
Pcdhac2 |
A |
T |
18: 37,278,207 (GRCm39) |
N396Y |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,766,437 (GRCm39) |
C1542S |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,274,121 (GRCm39) |
V450E |
probably damaging |
Het |
Pld2 |
A |
G |
11: 70,445,121 (GRCm39) |
K574E |
probably damaging |
Het |
Pramel52-ps |
T |
C |
5: 94,531,551 (GRCm39) |
L145P |
probably damaging |
Het |
Psmc1 |
C |
T |
12: 100,089,356 (GRCm39) |
R410C |
probably benign |
Het |
Rad51b |
C |
T |
12: 79,374,024 (GRCm39) |
S201L |
probably benign |
Het |
Rgs3 |
T |
A |
4: 62,544,733 (GRCm39) |
L200Q |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,479,846 (GRCm39) |
M1293V |
probably damaging |
Het |
Scin |
C |
T |
12: 40,131,019 (GRCm39) |
G298D |
probably damaging |
Het |
Scn8a |
C |
A |
15: 100,867,014 (GRCm39) |
F123L |
probably damaging |
Het |
Snapc3 |
G |
A |
4: 83,369,531 (GRCm39) |
C353Y |
probably damaging |
Het |
Sned1 |
C |
A |
1: 93,210,978 (GRCm39) |
S231* |
probably null |
Het |
Tex15 |
A |
G |
8: 34,067,574 (GRCm39) |
T2335A |
probably benign |
Het |
Tigd4 |
G |
A |
3: 84,502,526 (GRCm39) |
G481D |
probably benign |
Het |
Trank1 |
T |
G |
9: 111,219,343 (GRCm39) |
F2027V |
probably benign |
Het |
Ubr1 |
C |
T |
2: 120,711,548 (GRCm39) |
A1449T |
probably benign |
Het |
Ulk1 |
G |
T |
5: 110,947,002 (GRCm39) |
Y89* |
probably null |
Het |
Usp54 |
A |
G |
14: 20,611,604 (GRCm39) |
F1071L |
probably benign |
Het |
Utrn |
C |
T |
10: 12,587,190 (GRCm39) |
E949K |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,964 (GRCm39) |
T651S |
possibly damaging |
Het |
Zfp672 |
G |
A |
11: 58,220,681 (GRCm39) |
|
probably benign |
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 |
R1592:Wdfy1
|
UTSW |
1 |
79,683,972 (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 |
|
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'- TAAGACAGATCCGCCTGACG -3'
(R):5'- AAGTACTACGGGAATCTGCG -3'
Sequencing Primer
(F):5'- ACCAGGATCTCGGTGGACTAC -3'
(R):5'- AATCTGCGGCAGTGCTC -3'
|
Posted On |
2021-01-18 |