Incidental Mutation 'R3690:Fxyd5'
| ID |
269722 |
| 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 |
040685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3690 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30732153-30741565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30735864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 128
(L128M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009831]
[ENSMUST00000159753]
[ENSMUST00000159924]
[ENSMUST00000160689]
[ENSMUST00000161684]
[ENSMUST00000162733]
[ENSMUST00000162087]
[ENSMUST00000161805]
[ENSMUST00000162116]
[ENSMUST00000202395]
|
| AlphaFold |
P97808 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009831
AA Change: L128M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687
AA Change: L128M
| 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 |
possibly damaging
Transcript: ENSMUST00000159924
AA Change: L127M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687
AA Change: L127M
| 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 |
noncoding transcript
Transcript: ENSMUST00000160006
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000161259
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161684
AA Change: L127M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687
AA Change: L127M
| 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: ENSMUST00000162733
AA Change: L128M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687
AA Change: L128M
| 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: L127M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687
AA Change: L127M
| 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: ENSMUST00000161805
AA Change: L127M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687
AA Change: L127M
| 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: ENSMUST00000162116
AA Change: L127M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687
AA Change: L127M
| 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 |
unknown
Transcript: ENSMUST00000162250
AA Change: L65M
|
| SMART Domains |
Protein: ENSMUSP00000124129
Gene: ENSMUSG00000009687
AA Change: L65M
| 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 |
noncoding transcript
Transcript: ENSMUST00000184636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205301
|
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,091,328 (GRCm39) |
Y629F |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,836,668 (GRCm39) |
D1081V |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,368,055 (GRCm39) |
C893R |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,754,252 (GRCm39) |
I98T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,814,957 (GRCm39) |
|
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Ddias |
G |
A |
7: 92,509,366 (GRCm39) |
P183L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
| Dusp16 |
C |
T |
6: 134,738,082 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,821,881 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,227,393 (GRCm39) |
V842A |
probably benign |
Het |
| Folr1 |
T |
C |
7: 101,507,745 (GRCm39) |
S232G |
probably benign |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,137 (GRCm39) |
M75V |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,349,238 (GRCm39) |
S500P |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,275 (GRCm39) |
L268P |
probably damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,243 (GRCm39) |
H192L |
probably benign |
Het |
| Llgl1 |
T |
G |
11: 60,597,828 (GRCm39) |
Y316D |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,801,374 (GRCm39) |
*143R |
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,318,513 (GRCm39) |
E678G |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,395,382 (GRCm39) |
I996L |
probably benign |
Het |
| Neb |
T |
C |
2: 52,027,397 (GRCm39) |
E6868G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Nup50 |
C |
T |
15: 84,823,994 (GRCm39) |
T449M |
probably damaging |
Het |
| Or14a256 |
G |
A |
7: 86,265,686 (GRCm39) |
P56S |
probably damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,508 (GRCm39) |
F62L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,274 (GRCm39) |
T56A |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,902 (GRCm39) |
L95P |
probably damaging |
Het |
| Or52n2 |
T |
C |
7: 104,542,724 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Pald1 |
A |
T |
10: 61,191,587 (GRCm39) |
|
probably null |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,637,817 (GRCm39) |
V312A |
possibly damaging |
Het |
| Scaper |
C |
T |
9: 55,791,205 (GRCm39) |
G231D |
probably benign |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,854 (GRCm39) |
M1V |
probably null |
Het |
| Smtn |
T |
C |
11: 3,477,687 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tex47 |
A |
G |
5: 7,354,777 (GRCm39) |
|
probably benign |
Het |
| Tram2 |
T |
A |
1: 21,075,824 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,926,547 (GRCm39) |
K442E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,798 (GRCm39) |
F8I |
unknown |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,370 (GRCm39) |
F815S |
possibly damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zfp579 |
T |
C |
7: 4,997,719 (GRCm39) |
H64R |
probably damaging |
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 |
|
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 |
|
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'- GCATGTCTATGTCATCAGTGGG -3'
(R):5'- GCAGGTGCTTGTTGCCATAG -3'
Sequencing Primer
(F):5'- TCTATAGTGACCAGAAGATCTGCC -3'
(R):5'- TCTGCACCCCAGATGTAGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation