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: 0.052)
|
| 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 |
Incidental Mutation