Incidental Mutation 'R4950:Fxyd7'
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ID381916
Institutional Source Beutler Lab
Gene Symbol Fxyd7
Ensembl Gene ENSMUSG00000036578
Gene NameFXYD domain-containing ion transport regulator 7
Synonyms
MMRRC Submission 042547-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4950 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location31042513-31051467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 31047390 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 15 (T15I)
Ref Sequence ENSEMBL: ENSMUSP00000146171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039909] [ENSMUST00000071697] [ENSMUST00000073892] [ENSMUST00000108110] [ENSMUST00000161684] [ENSMUST00000205439] [ENSMUST00000205778] [ENSMUST00000205807] [ENSMUST00000206012] [ENSMUST00000206305] [ENSMUST00000206328] [ENSMUST00000206341] [ENSMUST00000206860] [ENSMUST00000206474]
Predicted Effect probably benign
Transcript: ENSMUST00000039909
SMART Domains Protein: ENSMUSP00000048460
Gene: ENSMUSG00000036570

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 1.1e-31 PFAM
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071697
SMART Domains Protein: ENSMUSP00000071617
Gene: ENSMUSG00000036570

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 1.1e-31 PFAM
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073892
AA Change: T15I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073555
Gene: ENSMUSG00000036578
AA Change: T15I

DomainStartEndE-ValueType
Pfam:ATP1G1_PLM_MAT8 13 60 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108110
SMART Domains Protein: ENSMUSP00000103745
Gene: ENSMUSG00000036570

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 24 70 1.4e-31 PFAM
low complexity region 81 92 N/A INTRINSIC
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: ENSMUST00000205439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205542
Predicted Effect probably benign
Transcript: ENSMUST00000205778
Predicted Effect probably benign
Transcript: ENSMUST00000205807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205917
Predicted Effect probably benign
Transcript: ENSMUST00000206012
Predicted Effect probably benign
Transcript: ENSMUST00000206030
Predicted Effect probably benign
Transcript: ENSMUST00000206305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206317
Predicted Effect probably benign
Transcript: ENSMUST00000206328
Predicted Effect probably benign
Transcript: ENSMUST00000206341
AA Change: T15I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206860
Predicted Effect probably benign
Transcript: ENSMUST00000206474
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 100% (58/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb9b A T 2: 154,311,659 D215V probably damaging Het
Cacna1i A G 15: 80,368,671 E625G probably damaging Het
Cage1 C T 13: 38,023,326 S181N possibly damaging Het
Ccdc36 A C 9: 108,421,510 S36R probably damaging Het
Ccdc73 A C 2: 104,992,366 I887L probably benign Het
Cfap65 T A 1: 74,906,336 K1408* probably null Het
Cngb1 C A 8: 95,248,507 G654W probably damaging Het
Cxcl15 A T 5: 90,795,245 E35D possibly damaging Het
Ddi1 A G 9: 6,266,073 S99P probably benign Het
Disp3 A T 4: 148,258,126 D622E possibly damaging Het
Dnajc22 G A 15: 99,101,734 V267I probably benign Het
Dph5 G A 3: 115,928,643 G257S probably benign Het
Elmo2 A T 2: 165,314,813 probably null Het
Fam186a T C 15: 99,941,653 R2237G unknown Het
Fez1 G A 9: 36,867,882 R285Q probably damaging Het
Fsip2 A T 2: 82,946,932 H101L probably damaging Het
Fsip2 G A 2: 82,977,414 C1359Y probably benign Het
Gpr155 A T 2: 73,382,185 D31E probably benign Het
Irx6 A T 8: 92,678,800 Y432F probably damaging Het
Itih5 A C 2: 10,235,081 I340L probably damaging Het
Lao1 T C 4: 118,965,375 L164S probably damaging Het
Mcoln3 T C 3: 146,139,519 I490T probably damaging Het
Mef2b T C 8: 70,167,196 Y311H probably damaging Het
Mras A T 9: 99,394,484 L111Q probably damaging Het
Mrc1 A G 2: 14,271,280 D475G probably damaging Het
Nrcam T C 12: 44,598,490 I1155T probably damaging Het
Ntrk1 A G 3: 87,789,611 probably null Het
Olfr58 G A 9: 19,783,731 M199I probably benign Het
Olfr885 T C 9: 38,062,001 I227T probably damaging Het
Parp9 A T 16: 35,948,007 I186F probably damaging Het
Pcdhac2 T A 18: 37,145,230 V421E probably benign Het
Pck1 T A 2: 173,154,827 I178K probably benign Het
Pde6b A G 5: 108,430,703 K836E probably benign Het
Ptprd T A 4: 76,140,515 probably null Het
Pwp2 A G 10: 78,183,006 Y56H probably benign Het
Rarb G A 14: 16,432,085 probably benign Het
Rpain C G 11: 70,970,921 H50Q probably benign Het
Rps9 CTGTTTG CTG 7: 3,704,759 probably null Het
Rubcn A T 16: 32,843,193 S358T probably damaging Het
Ryr2 G A 13: 11,742,011 R1586C probably damaging Het
Slfn9 T C 11: 82,981,904 I669V probably benign Het
Slx1b T C 7: 126,691,767 probably benign Het
Spsb3 T A 17: 24,887,511 probably benign Het
Tbx15 A G 3: 99,326,384 I288V possibly damaging Het
Tlr2 C A 3: 83,837,332 E481D probably damaging Het
Trim17 A T 11: 58,970,428 D253V probably damaging Het
Trim69 A G 2: 122,178,746 D429G probably damaging Het
Vstm5 A G 9: 15,257,794 probably null Het
Vwa3b A G 1: 37,085,332 Q337R probably benign Het
Zfp113 T C 5: 138,145,472 N172S probably benign Het
Zfp607a T A 7: 27,878,751 H415Q probably damaging Het
Zfp87 G A 13: 67,517,899 T148I probably benign Het
Other mutations in Fxyd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Fxyd7 APN 7 31047374 nonsense probably null
IGL02170:Fxyd7 APN 7 31045007 missense possibly damaging 0.91
IGL03218:Fxyd7 APN 7 31044570 critical splice donor site probably null
R0116:Fxyd7 UTSW 7 31047368 splice site probably null
R0847:Fxyd7 UTSW 7 31044604 missense probably damaging 0.99
R4299:Fxyd7 UTSW 7 31044982 missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- GGCTTTATGAGGTTCACAGCC -3'
(R):5'- GAGCATCCTATGAGCTCTACG -3'

Sequencing Primer
(F):5'- ATGAGGTTCACAGCCTTCATCAG -3'
(R):5'- TCTACGGAGAGGCGGTACTGTC -3'
Posted On2016-04-27