Incidental Mutation 'R1429:Fxyd3'
ID 161438
Institutional Source Beutler Lab
Gene Symbol Fxyd3
Ensembl Gene ENSMUSG00000057092
Gene Name FXYD domain-containing ion transport regulator 3
Synonyms Mat8
MMRRC Submission 039485-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1429 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30769960-30776122 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 30773046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000130245 (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
AA Change: M1L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130245
Gene: ENSMUSG00000057092
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 25 71 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171359
AA Change: M1L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128610
Gene: ENSMUSG00000057092
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 4.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186839
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Alg8 C T 7: 97,039,499 (GRCm39) A410V probably benign Het
Arhgef4 A G 1: 34,849,420 (GRCm39) Y481C probably damaging Het
Armc8 A G 9: 99,418,260 (GRCm39) V56A possibly damaging Het
Cactin T C 10: 81,159,512 (GRCm39) I23T probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cfap54 T C 10: 92,656,900 (GRCm39) I3051V probably benign Het
Cpxm1 A T 2: 130,238,364 (GRCm39) I66N probably damaging Het
Ddx50 G A 10: 62,482,847 (GRCm39) T74I possibly damaging Het
Dnah7b G T 1: 46,328,816 (GRCm39) D3183Y possibly damaging Het
Dsg1b A G 18: 20,523,252 (GRCm39) D93G probably damaging Het
Ess2 G A 16: 17,720,069 (GRCm39) R427* probably null Het
Fam135a T G 1: 24,083,348 (GRCm39) K292N probably damaging Het
Fam83b G T 9: 76,399,859 (GRCm39) R415S probably benign Het
Gm5134 T A 10: 75,814,215 (GRCm39) M193K probably damaging Het
Golgb1 A G 16: 36,720,925 (GRCm39) E427G possibly damaging Het
Gpat3 G A 5: 101,040,953 (GRCm39) G338S probably damaging Het
Hmgxb3 C T 18: 61,283,505 (GRCm39) R606Q probably damaging Het
Itgb1 T C 8: 129,444,157 (GRCm39) probably null Het
Myh1 C A 11: 67,108,736 (GRCm39) T1384K possibly damaging Het
Myo3b A C 2: 70,083,351 (GRCm39) Q640P probably damaging Het
Naa16 A G 14: 79,596,967 (GRCm39) V305A probably benign Het
Or5h17 G A 16: 58,820,501 (GRCm39) G151D possibly damaging Het
Pgap1 T C 1: 54,534,020 (GRCm39) D631G probably benign Het
Phc2 C A 4: 128,637,348 (GRCm39) P51Q probably damaging Het
Pmel G A 10: 128,554,861 (GRCm39) probably null Het
Rassf8 G T 6: 145,760,916 (GRCm39) G81W probably damaging Het
Rfx2 G T 17: 57,111,369 (GRCm39) Q68K probably damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Rsbn1l A G 5: 21,125,016 (GRCm39) L262S probably damaging Het
S100a16 A C 3: 90,449,391 (GRCm39) Y22S probably damaging Het
Stx19 G A 16: 62,642,960 (GRCm39) V259I possibly damaging Het
Tas2r105 T C 6: 131,663,904 (GRCm39) I175V probably benign Het
Vmn2r67 T A 7: 84,802,031 (GRCm39) H90L possibly damaging Het
Wscd1 T A 11: 71,651,000 (GRCm39) L109Q probably damaging Het
Zfp423 T A 8: 88,413,070 (GRCm39) Q1154L probably damaging Het
Zmym6 T C 4: 127,017,672 (GRCm39) L1059P probably damaging Het
Other mutations in Fxyd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01874:Fxyd3 APN 7 30,770,318 (GRCm39) splice site probably benign
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
R7693:Fxyd3 UTSW 7 30,770,598 (GRCm39) missense probably benign
R9329:Fxyd3 UTSW 7 30,773,018 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GACTGAGCCTTTTGCTTGTTGTCAC -3'
(R):5'- AATGGCCTCTTTGCACATAGGACC -3'

Sequencing Primer
(F):5'- CACTGATGATTAAATGGCATTTCCCC -3'
(R):5'- TCATGGAACCTGAATGCTCAC -3'
Posted On 2014-03-14