Incidental Mutation 'IGL01874:Fxyd3'
ID 178839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fxyd3
Ensembl Gene ENSMUSG00000057092
Gene Name FXYD domain-containing ion transport regulator 3
Synonyms Mat8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01874
Quality Score
Status
Chromosome 7
Chromosomal Location 30769960-30776122 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 30770318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039775] [ENSMUST00000072331] [ENSMUST00000167369] [ENSMUST00000171359]
AlphaFold Q61835
Predicted Effect probably benign
Transcript: ENSMUST00000039775
SMART Domains Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
LRR 75 98 7.17e1 SMART
LRR 99 122 2.76e1 SMART
LRR_TYP 123 146 2.43e-4 SMART
LRRCT 158 207 3.97e-5 SMART
Pfam:EPTP 214 251 1.1e-7 PFAM
Pfam:EPTP 396 438 2.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072331
Predicted Effect probably benign
Transcript: ENSMUST00000072331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165862
Predicted Effect probably benign
Transcript: ENSMUST00000167369
SMART Domains Protein: ENSMUSP00000130245
Gene: ENSMUSG00000057092

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 25 71 5.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169313
Predicted Effect probably benign
Transcript: ENSMUST00000171359
SMART Domains Protein: ENSMUSP00000128610
Gene: ENSMUSG00000057092

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 4.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170456
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: 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 encoded protein is a transmembrane protein that functions as a specific regulator of Na,K-ATPase. [provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,916,823 (GRCm39) V723D possibly damaging Het
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Aox4 T C 1: 58,291,243 (GRCm39) L787S probably damaging Het
Atp2c1 A C 9: 105,326,024 (GRCm39) V293G probably damaging Het
Ccnb1 T C 13: 100,920,001 (GRCm39) D170G probably damaging Het
Cdc42 T C 4: 137,063,381 (GRCm39) I4V probably benign Het
Clip1 T C 5: 123,741,729 (GRCm39) Q1175R possibly damaging Het
Cox6a1 A G 5: 115,483,904 (GRCm39) *113Q probably null Het
Crtc2 C T 3: 90,165,815 (GRCm39) P139L probably damaging Het
Cyp8b1 A T 9: 121,744,969 (GRCm39) M121K possibly damaging Het
D630003M21Rik C A 2: 158,046,644 (GRCm39) G778C probably damaging Het
Dgat1 A G 15: 76,387,241 (GRCm39) F349L probably damaging Het
Enox1 A G 14: 77,816,602 (GRCm39) Y194C probably damaging Het
Fam120b T A 17: 15,623,301 (GRCm39) C426* probably null Het
Gin1 A G 1: 97,710,797 (GRCm39) Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11110 T A 17: 57,399,693 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,973 (GRCm39) noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 (GRCm39) S598P probably damaging Het
Hook3 T A 8: 26,529,760 (GRCm39) N199Y possibly damaging Het
Il10ra A G 9: 45,178,458 (GRCm39) L41P probably damaging Het
Itgam C T 7: 127,714,338 (GRCm39) T949I probably damaging Het
Kctd3 A G 1: 188,729,188 (GRCm39) V123A probably damaging Het
Krt84 G A 15: 101,436,239 (GRCm39) A450V probably damaging Het
Lrrc7 G A 3: 157,946,080 (GRCm39) probably benign Het
Nckap1 A G 2: 80,355,980 (GRCm39) F608L probably damaging Het
Niban2 A T 2: 32,795,779 (GRCm39) probably null Het
Nmbr A T 10: 14,642,696 (GRCm39) Y85F probably benign Het
Nol6 A C 4: 41,115,412 (GRCm39) L1135R probably damaging Het
Ntan1 T C 16: 13,653,077 (GRCm39) F278L probably benign Het
Or2n1e T A 17: 38,586,408 (GRCm39) S249T probably benign Het
Pcsk5 T A 19: 17,573,041 (GRCm39) T474S probably damaging Het
Pex11b T A 3: 96,550,883 (GRCm39) probably null Het
Pkhd1 G T 1: 20,173,459 (GRCm39) A3786E probably benign Het
Prkdc T C 16: 15,552,858 (GRCm39) I2098T possibly damaging Het
Prl2c5 T A 13: 13,365,362 (GRCm39) S169R probably benign Het
Ptbp2 A G 3: 119,541,449 (GRCm39) V196A probably damaging Het
Rad17 T C 13: 100,754,192 (GRCm39) probably benign Het
Skic2 T C 17: 35,060,185 (GRCm39) N114D probably benign Het
Slc47a2 T A 11: 61,203,685 (GRCm39) probably null Het
Srcin1 A T 11: 97,423,924 (GRCm39) M684K possibly damaging Het
Sspo T A 6: 48,429,124 (GRCm39) C298S probably damaging Het
Tenm3 G T 8: 48,689,793 (GRCm39) Y1915* probably null Het
Tnks1bp1 A G 2: 84,888,791 (GRCm39) T373A probably benign Het
Trp63 A C 16: 25,701,335 (GRCm39) N470H possibly damaging Het
Ttn T C 2: 76,628,907 (GRCm39) N12703S probably damaging Het
Ubr4 T C 4: 139,120,600 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,449,602 (GRCm39) Y212F probably benign Het
Other mutations in Fxyd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4431001:Fxyd3 UTSW 7 30,770,780 (GRCm39) missense probably damaging 1.00
R0267:Fxyd3 UTSW 7 30,770,159 (GRCm39) unclassified probably benign
R1120:Fxyd3 UTSW 7 30,770,803 (GRCm39) splice site probably benign
R1429:Fxyd3 UTSW 7 30,773,046 (GRCm39) start codon destroyed probably benign 0.33
R7693:Fxyd3 UTSW 7 30,770,598 (GRCm39) missense probably benign
R9329:Fxyd3 UTSW 7 30,773,018 (GRCm39) missense probably benign 0.07
Posted On 2014-05-07