Incidental Mutation 'R7309:Fxyd5'
ID |
567440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fxyd5
|
Ensembl Gene |
ENSMUSG00000009687 |
Gene Name |
FXYD domain-containing ion transport regulator 5 |
Synonyms |
dysadherin, Oit2, EF-8 |
MMRRC Submission |
045408-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7309 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30732153-30741565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30734829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 133
(N133D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009831]
[ENSMUST00000159753]
[ENSMUST00000159924]
[ENSMUST00000160689]
[ENSMUST00000161684]
[ENSMUST00000161805]
[ENSMUST00000162087]
[ENSMUST00000162733]
[ENSMUST00000162116]
[ENSMUST00000202395]
|
AlphaFold |
P97808 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009831
AA Change: N133D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000009831 Gene: ENSMUSG00000009687 AA Change: N133D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
80 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
130 |
176 |
8.3e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159753
|
SMART Domains |
Protein: ENSMUSP00000123813 Gene: ENSMUSG00000009687
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159924
AA Change: N132D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124219 Gene: ENSMUSG00000009687 AA Change: N132D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
79 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
129 |
175 |
8.5e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160689
|
SMART Domains |
Protein: ENSMUSP00000125187 Gene: ENSMUSG00000009687
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161684
AA Change: N132D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125285 Gene: ENSMUSG00000009687 AA Change: N132D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
79 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
129 |
175 |
8.5e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161805
AA Change: N132D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125398 Gene: ENSMUSG00000009687 AA Change: N132D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
79 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
129 |
175 |
8.5e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162087
AA Change: N132D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125065 Gene: ENSMUSG00000009687 AA Change: N132D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
79 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
130 |
174 |
1.5e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162733
AA Change: N133D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000125173 Gene: ENSMUSG00000009687 AA Change: N133D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
80 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
131 |
167 |
6.5e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162116
AA Change: N132D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124203 Gene: ENSMUSG00000009687 AA Change: N132D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
64 |
79 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
129 |
175 |
8.5e-22 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124129 Gene: ENSMUSG00000009687 AA Change: N70D
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
69 |
113 |
7.5e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202395
|
SMART Domains |
Protein: ENSMUSP00000144377 Gene: ENSMUSG00000009687
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
94% (47/50) |
MGI Phenotype |
FUNCTION: This gene encodes a precursor protein that is member of the FXYD family of transmembrane glycoproteins. Like most members of the FXYD family, the encoded protein is a subunit of the sodium-potassium adenosine triphosphatase pump. FXYD family members have tissue-specific expression and differentially regulate the activity of this pump. The protein encoded by this gene also plays a role in cell adhesion and motility. The orthologous human protein inhibits epithelial cadherin, a calcium-dependent adhesion protein and is associated with cancer (promotes metastasis). Alternative splicing of this mouse gene results in multiple transcript variants. [provided by RefSeq, Dec 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
C |
5: 109,884,819 (GRCm39) |
H346Q |
probably damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,546,530 (GRCm39) |
I71L |
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,516,604 (GRCm39) |
S377P |
probably damaging |
Het |
Cldnd2 |
A |
G |
7: 43,091,133 (GRCm39) |
T22A |
possibly damaging |
Het |
Comp |
A |
T |
8: 70,826,328 (GRCm39) |
|
probably null |
Het |
Cop1 |
A |
G |
1: 159,134,195 (GRCm39) |
K446E |
probably damaging |
Het |
Cox18 |
T |
C |
5: 90,362,917 (GRCm39) |
T314A |
possibly damaging |
Het |
Csrp3 |
A |
G |
7: 48,485,317 (GRCm39) |
V60A |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,093,988 (GRCm39) |
Y4694F |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,139,510 (GRCm39) |
Y493H |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,967,011 (GRCm39) |
|
probably null |
Het |
Fam187a |
T |
A |
11: 102,776,832 (GRCm39) |
V212E |
probably damaging |
Het |
Fign |
A |
T |
2: 63,810,301 (GRCm39) |
M323K |
possibly damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,496 (GRCm39) |
K145R |
probably damaging |
Het |
Hnrnpdl |
A |
T |
5: 100,185,482 (GRCm39) |
L240* |
probably null |
Het |
Kcna7 |
T |
G |
7: 45,058,679 (GRCm39) |
F322C |
probably damaging |
Het |
Kcnj9 |
A |
G |
1: 172,153,825 (GRCm39) |
C100R |
probably damaging |
Het |
Lrrc14b |
C |
A |
13: 74,511,321 (GRCm39) |
C253F |
probably benign |
Het |
Map3k11 |
T |
C |
19: 5,740,486 (GRCm39) |
V71A |
probably damaging |
Het |
Med13 |
C |
A |
11: 86,181,888 (GRCm39) |
M1315I |
probably benign |
Het |
Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
Miox |
G |
T |
15: 89,220,252 (GRCm39) |
C148F |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,300,195 (GRCm39) |
|
probably null |
Het |
Mthfsd |
G |
A |
8: 121,835,070 (GRCm39) |
|
probably benign |
Het |
Myh15 |
G |
A |
16: 48,916,828 (GRCm39) |
A383T |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,200,670 (GRCm39) |
H117R |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,702,384 (GRCm39) |
M23K |
probably benign |
Het |
Or14c45 |
T |
A |
7: 86,176,349 (GRCm39) |
L128H |
probably damaging |
Het |
Or4c3d |
T |
A |
2: 89,881,801 (GRCm39) |
N289I |
probably damaging |
Het |
Or8g21 |
T |
A |
9: 38,906,576 (GRCm39) |
S52C |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,374,893 (GRCm39) |
|
probably null |
Het |
Plcz1 |
A |
T |
6: 139,968,882 (GRCm39) |
D185E |
probably damaging |
Het |
Plekhg5 |
C |
A |
4: 152,196,985 (GRCm39) |
Q757K |
possibly damaging |
Het |
Prr23a2 |
T |
A |
9: 98,739,027 (GRCm39) |
D128E |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,416,712 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
T |
14: 31,100,246 (GRCm39) |
V221M |
probably benign |
Het |
Slc25a27 |
A |
T |
17: 43,975,083 (GRCm39) |
D59E |
probably benign |
Het |
Slc35e1 |
G |
C |
8: 73,246,358 (GRCm39) |
R25G |
unknown |
Het |
Slc4a4 |
T |
C |
5: 89,318,610 (GRCm39) |
V626A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,847,529 (GRCm39) |
L138P |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,165,780 (GRCm39) |
|
probably null |
Het |
Tnks2 |
G |
T |
19: 36,829,936 (GRCm39) |
A206S |
probably damaging |
Het |
Trav7-1 |
C |
A |
14: 52,892,521 (GRCm39) |
Q25K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,728,670 (GRCm39) |
M5470T |
unknown |
Het |
Vps35 |
A |
T |
8: 86,001,596 (GRCm39) |
D407E |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,079,676 (GRCm39) |
D190G |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,423,103 (GRCm39) |
F456I |
possibly damaging |
Het |
Wdr95 |
A |
G |
5: 149,529,758 (GRCm39) |
E675G |
probably benign |
Het |
|
Other mutations in Fxyd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01910:Fxyd5
|
APN |
7 |
30,734,643 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01913:Fxyd5
|
APN |
7 |
30,734,637 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02071:Fxyd5
|
APN |
7 |
30,739,613 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02800:Fxyd5
|
APN |
7 |
30,732,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
Uptown
|
UTSW |
7 |
30,740,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Fxyd5
|
UTSW |
7 |
30,737,355 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2362:Fxyd5
|
UTSW |
7 |
30,735,896 (GRCm39) |
missense |
probably benign |
0.00 |
R3690:Fxyd5
|
UTSW |
7 |
30,735,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4279:Fxyd5
|
UTSW |
7 |
30,734,811 (GRCm39) |
missense |
probably null |
1.00 |
R4786:Fxyd5
|
UTSW |
7 |
30,740,907 (GRCm39) |
unclassified |
probably benign |
|
R6410:Fxyd5
|
UTSW |
7 |
30,734,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R6465:Fxyd5
|
UTSW |
7 |
30,737,305 (GRCm39) |
missense |
probably damaging |
0.96 |
R7257:Fxyd5
|
UTSW |
7 |
30,734,576 (GRCm39) |
missense |
unknown |
|
R8270:Fxyd5
|
UTSW |
7 |
30,740,854 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Fxyd5
|
UTSW |
7 |
30,737,356 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1186:Fxyd5
|
UTSW |
7 |
30,734,588 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCCGTGATGAACAGCAC -3'
(R):5'- TGTCGAGATGGACTCAGGAG -3'
Sequencing Primer
(F):5'- CGTGATGAACAGCACCGCAG -3'
(R):5'- TGAGGAGAGAAGATCTAAAGACTTTG -3'
|
Posted On |
2019-06-26 |