Incidental Mutation 'R8270:Fxyd5'
| ID |
639441 |
| 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 |
067694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30732153-30741565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30740854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 10
(L10P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009831]
[ENSMUST00000073892]
[ENSMUST00000159753]
[ENSMUST00000159924]
[ENSMUST00000160689]
[ENSMUST00000161684]
[ENSMUST00000161805]
[ENSMUST00000162733]
[ENSMUST00000162087]
[ENSMUST00000162116]
[ENSMUST00000202395]
[ENSMUST00000206341]
|
| AlphaFold |
P97808 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009831
AA Change: L10P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687
AA Change: L10P
| 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: ENSMUST00000073892
|
| SMART Domains |
Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP1G1_PLM_MAT8
|
13 |
60 |
1.2e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159753
AA Change: L10P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123813
Gene: ENSMUSG00000009687
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159924
AA Change: L10P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687
AA Change: L10P
| 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 damaging
Transcript: ENSMUST00000160689
AA Change: L10P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125187
Gene: ENSMUSG00000009687
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161684
AA Change: L10P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687
AA Change: L10P
| 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 |
possibly damaging
Transcript: ENSMUST00000161805
AA Change: L10P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687
AA Change: L10P
| 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 damaging
Transcript: ENSMUST00000162733
AA Change: L10P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: L10P
| 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 |
possibly damaging
Transcript: ENSMUST00000162087
AA Change: L10P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687
AA Change: L10P
| 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 |
possibly damaging
Transcript: ENSMUST00000162116
AA Change: L10P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687
AA Change: L10P
| 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: ENSMUST00000162250
|
| SMART Domains |
Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687
| 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 damaging
Transcript: ENSMUST00000202395
AA Change: L10P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144377
Gene: ENSMUSG00000009687
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206341
|
| Meta Mutation Damage Score |
0.6877 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
98% (52/53) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,651,163 (GRCm39) |
T3044I |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,765,004 (GRCm39) |
P562S |
unknown |
Het |
| Arhgap44 |
A |
G |
11: 64,912,860 (GRCm39) |
M477T |
possibly damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,882,354 (GRCm39) |
T1497A |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,307,698 (GRCm39) |
D91G |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,051,164 (GRCm39) |
F405L |
probably damaging |
Het |
| Bicc1 |
T |
A |
10: 70,767,938 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,257,835 (GRCm39) |
C1122S |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,080,636 (GRCm39) |
E369G |
probably damaging |
Het |
| Cass4 |
T |
A |
2: 172,269,589 (GRCm39) |
L557Q |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,672 (GRCm39) |
I48V |
probably benign |
Het |
| Crisp3 |
T |
C |
17: 40,546,813 (GRCm39) |
K35R |
probably benign |
Het |
| Csde1 |
G |
A |
3: 102,946,071 (GRCm39) |
A22T |
possibly damaging |
Het |
| Ctse |
T |
C |
1: 131,595,877 (GRCm39) |
Y190H |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,504,988 (GRCm39) |
D24V |
possibly damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,658 (GRCm39) |
Y981* |
probably null |
Het |
| Dclre1a |
G |
A |
19: 56,533,382 (GRCm39) |
T404I |
possibly damaging |
Het |
| Dmc1 |
T |
C |
15: 79,485,746 (GRCm39) |
D23G |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,059,687 (GRCm39) |
T4429M |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,997,033 (GRCm39) |
|
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fn3k |
A |
T |
11: 121,330,137 (GRCm39) |
M107L |
probably benign |
Het |
| Gm21958 |
G |
A |
3: 54,621,633 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
C |
T |
10: 18,659,760 (GRCm39) |
D321N |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,734,050 (GRCm39) |
*310W |
probably null |
Het |
| Hapln2 |
G |
A |
3: 87,930,851 (GRCm39) |
T180I |
possibly damaging |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,379,875 (GRCm39) |
V1166A |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,358 (GRCm39) |
N439S |
|
Het |
| Klhl3 |
A |
T |
13: 58,260,968 (GRCm39) |
M15K |
|
Het |
| Klk1b26 |
A |
T |
7: 43,665,544 (GRCm39) |
T151S |
probably benign |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,199 (GRCm39) |
C176F |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,693 (GRCm39) |
C177S |
unknown |
Het |
| Lrrc37 |
T |
C |
11: 103,434,141 (GRCm39) |
I3009M |
unknown |
Het |
| Map1a |
T |
C |
2: 121,129,501 (GRCm39) |
F180L |
probably damaging |
Het |
| Mfap5 |
T |
C |
6: 122,498,889 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
T |
A |
2: 80,355,008 (GRCm39) |
H638L |
possibly damaging |
Het |
| Optc |
C |
T |
1: 133,832,810 (GRCm39) |
V97M |
probably benign |
Het |
| Or5p78 |
T |
A |
7: 108,212,150 (GRCm39) |
I212N |
probably benign |
Het |
| Or8b46 |
T |
G |
9: 38,450,644 (GRCm39) |
M151R |
noncoding transcript |
Het |
| Piezo1 |
A |
G |
8: 123,228,298 (GRCm39) |
Y330H |
|
Het |
| Ppp1r12b |
G |
T |
1: 134,803,886 (GRCm39) |
N424K |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,913,058 (GRCm39) |
F580L |
probably damaging |
Het |
| Prr27 |
A |
C |
5: 87,994,171 (GRCm39) |
K348N |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,435,822 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Rbks |
A |
T |
5: 31,807,810 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,099,535 (GRCm39) |
V336A |
possibly damaging |
Het |
| Serac1 |
A |
T |
17: 6,101,033 (GRCm39) |
L457H |
probably damaging |
Het |
| Serpina1f |
A |
G |
12: 103,659,757 (GRCm39) |
I175T |
probably damaging |
Het |
| Smr2l |
T |
C |
5: 88,430,383 (GRCm39) |
V93A |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,426,897 (GRCm39) |
H242L |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,606,958 (GRCm39) |
M332K |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,769,294 (GRCm39) |
N361K |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,967,458 (GRCm39) |
H393N |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,176,838 (GRCm39) |
L1334S |
probably benign |
Het |
| Usp35 |
T |
C |
7: 96,961,551 (GRCm39) |
E625G |
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 |
|
|
R7309:Fxyd5
|
UTSW |
7 |
30,734,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GTGTCCAAAGAGGGTGCTAC -3'
(R):5'- GATCAGCTCCTGGAAGAAGG -3'
Sequencing Primer
(F):5'- AGAGCCTGCCTCGCCAATC -3'
(R):5'- GGGATGGTGGCCTGAGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation