Incidental Mutation 'IGL03218:Fxyd7'
ID 413562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fxyd7
Ensembl Gene ENSMUSG00000036578
Gene Name FXYD domain-containing ion transport regulator 7
Synonyms 1110035I01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03218
Quality Score
Status
Chromosome 7
Chromosomal Location 30741940-30750879 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 30743995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009831] [ENSMUST00000073892] [ENSMUST00000159753] [ENSMUST00000159924] [ENSMUST00000160689] [ENSMUST00000206341] [ENSMUST00000202395] [ENSMUST00000162116] [ENSMUST00000162087] [ENSMUST00000161684] [ENSMUST00000162733] [ENSMUST00000161805]
AlphaFold P59648
Predicted Effect probably benign
Transcript: ENSMUST00000009831
SMART Domains Protein: ENSMUSP00000009831
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000073892
SMART Domains Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578

DomainStartEndE-ValueType
Pfam:ATP1G1_PLM_MAT8 13 60 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159753
SMART Domains Protein: ENSMUSP00000123813
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 64 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159924
SMART Domains Protein: ENSMUSP00000124219
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161259
Predicted Effect probably null
Transcript: ENSMUST00000206341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184636
Predicted Effect probably benign
Transcript: ENSMUST00000202395
SMART Domains Protein: ENSMUSP00000144377
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 52 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162116
SMART Domains Protein: ENSMUSP00000124203
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000125065
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
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: ENSMUST00000161684
SMART Domains Protein: ENSMUSP00000125285
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
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: ENSMUST00000162733
SMART Domains Protein: ENSMUSP00000125173
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
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: ENSMUST00000161805
SMART Domains Protein: ENSMUSP00000125398
Gene: ENSMUSG00000009687

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,561,727 (GRCm39) probably null Het
Acot9 T A X: 154,078,207 (GRCm39) V251E possibly damaging Het
Agtpbp1 A G 13: 59,648,021 (GRCm39) S600P possibly damaging Het
Amfr A T 8: 94,726,964 (GRCm39) M157K probably damaging Het
Arvcf T C 16: 18,222,875 (GRCm39) probably benign Het
Ascc3 T C 10: 50,699,949 (GRCm39) V1924A possibly damaging Het
Atp10a T A 7: 58,438,196 (GRCm39) probably null Het
Atp1a2 T A 1: 172,116,870 (GRCm39) E249V probably null Het
C1qc A G 4: 136,617,598 (GRCm39) L166P probably damaging Het
Col4a3 C A 1: 82,620,927 (GRCm39) probably benign Het
Def8 A G 8: 124,183,175 (GRCm39) D258G probably damaging Het
Dll1 T C 17: 15,593,830 (GRCm39) D179G probably benign Het
Dnah14 C A 1: 181,582,834 (GRCm39) H3124Q probably benign Het
Fabp5 T A 3: 10,080,023 (GRCm39) probably benign Het
Fam133b C T 5: 3,604,684 (GRCm39) Q24* probably null Het
Fam13c A C 10: 70,284,599 (GRCm39) D25A possibly damaging Het
Flna A G X: 73,278,208 (GRCm39) probably null Het
Frem1 T A 4: 82,832,883 (GRCm39) T1917S probably benign Het
Frmd4b T C 6: 97,285,075 (GRCm39) T337A probably benign Het
Galnt5 T G 2: 57,889,401 (GRCm39) S334A possibly damaging Het
Gm10220 T C 5: 26,323,696 (GRCm39) K117R probably damaging Het
Gpd2 T A 2: 57,197,066 (GRCm39) L207H probably damaging Het
H2-M10.3 T A 17: 36,678,279 (GRCm39) Y182F probably damaging Het
Itga8 T C 2: 12,115,836 (GRCm39) I1018V possibly damaging Het
Letmd1 T C 15: 100,367,709 (GRCm39) F89S probably damaging Het
Mcm3ap A G 10: 76,318,567 (GRCm39) Y696C probably damaging Het
Mcpt9 A G 14: 56,264,908 (GRCm39) Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 (GRCm39) V29A probably benign Het
Myom1 A G 17: 71,391,311 (GRCm39) D940G possibly damaging Het
Myzap A G 9: 71,462,871 (GRCm39) M225T probably benign Het
Naa25 A G 5: 121,564,133 (GRCm39) Y516C probably damaging Het
Nsdhl T A X: 72,000,052 (GRCm39) probably benign Het
Olfml1 A G 7: 107,170,476 (GRCm39) E121G possibly damaging Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Or4a72 A G 2: 89,405,935 (GRCm39) V45A probably benign Het
Or8k38 A G 2: 86,488,703 (GRCm39) I33T probably benign Het
Phex C T X: 155,961,783 (GRCm39) G636E probably damaging Het
Pkd2l2 A T 18: 34,563,373 (GRCm39) I475F probably damaging Het
Polr2b T A 5: 77,463,764 (GRCm39) S54T probably benign Het
Prkx A T X: 76,829,806 (GRCm39) L85Q probably damaging Het
Smc1b A T 15: 84,973,914 (GRCm39) I914N probably benign Het
Susd2 A G 10: 75,478,459 (GRCm39) L39P probably benign Het
Teddm2 C T 1: 153,726,770 (GRCm39) V35I probably benign Het
Tspo T A 15: 83,455,631 (GRCm39) V6E possibly damaging Het
Vps41 G T 13: 19,013,440 (GRCm39) V353F possibly damaging Het
Wfdc18 T A 11: 83,600,033 (GRCm39) probably null Het
Wsb1 C T 11: 79,139,324 (GRCm39) S124N probably damaging Het
Zfp445 T C 9: 122,686,594 (GRCm39) E177G probably benign Het
Zfp759 G T 13: 67,287,480 (GRCm39) V344L probably benign Het
Other mutations in Fxyd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Fxyd7 APN 7 30,746,799 (GRCm39) nonsense probably null
IGL02170:Fxyd7 APN 7 30,744,432 (GRCm39) missense possibly damaging 0.91
R0116:Fxyd7 UTSW 7 30,746,793 (GRCm39) splice site probably null
R0847:Fxyd7 UTSW 7 30,744,029 (GRCm39) missense probably damaging 0.99
R4299:Fxyd7 UTSW 7 30,744,407 (GRCm39) missense probably benign 0.36
R4950:Fxyd7 UTSW 7 30,746,815 (GRCm39) missense probably benign
Posted On 2016-08-02