Incidental Mutation 'IGL03258:Slc5a4a'
ID 414736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a4a
Ensembl Gene ENSMUSG00000020229
Gene Name solute carrier family 5, member 4a
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL03258
Quality Score
Status
Chromosome 10
Chromosomal Location 76147451-76189265 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76150552 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 98 (V98A)
Ref Sequence ENSEMBL: ENSMUSP00000020450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020450]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000020450
AA Change: V98A

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: V98A

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Pfam:SSF 58 492 4e-161 PFAM
transmembrane domain 526 548 N/A INTRINSIC
transmembrane domain 636 655 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,137,561 probably benign Het
Adam1b A G 5: 121,501,384 S533P possibly damaging Het
Akr1c6 G T 13: 4,436,409 G72C probably damaging Het
Carf C T 1: 60,109,229 T28I possibly damaging Het
Cog1 G A 11: 113,655,093 W398* probably null Het
Dmpk A G 7: 19,092,206 probably null Het
Dmxl1 T C 18: 49,920,893 V2534A probably damaging Het
Fam78b A T 1: 167,078,754 T161S probably damaging Het
Fgd6 A T 10: 94,133,353 T1161S probably benign Het
Gpr158 A T 2: 21,825,274 D710V probably damaging Het
H2-Q4 A G 17: 35,380,119 I122V probably benign Het
Ifi211 A T 1: 173,905,532 C188S probably benign Het
Lamc3 A C 2: 31,887,683 S114R probably damaging Het
Lrrc57 C T 2: 120,605,222 A239T probably damaging Het
Mdga1 A G 17: 29,839,913 Y707H probably damaging Het
Ms4a6b T G 19: 11,521,708 L62R probably damaging Het
Mtmr4 A T 11: 87,612,003 H961L possibly damaging Het
Myrip A G 9: 120,441,352 N556S probably benign Het
Osgep T C 14: 50,917,889 T71A possibly damaging Het
Plin4 T C 17: 56,104,371 T887A probably benign Het
Pwwp2a T A 11: 43,704,565 F186I probably benign Het
Serpina1b G T 12: 103,730,396 S251R probably benign Het
Setd7 T C 3: 51,560,515 probably null Het
Slc24a5 G T 2: 125,080,705 probably null Het
Slc25a17 A G 15: 81,329,042 probably benign Het
Susd1 A T 4: 59,379,655 I324N possibly damaging Het
Tcaf3 A G 6: 42,589,839 L772P probably damaging Het
Other mutations in Slc5a4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Slc5a4a APN 10 76163733 missense probably damaging 1.00
IGL01725:Slc5a4a APN 10 76181674 missense probably benign 0.00
IGL02629:Slc5a4a APN 10 76147579 missense unknown
IGL02976:Slc5a4a APN 10 76170693 missense possibly damaging 0.67
IGL03255:Slc5a4a APN 10 76150512 missense probably damaging 1.00
R0054:Slc5a4a UTSW 10 76178197 missense probably null 0.00
R0244:Slc5a4a UTSW 10 76189152 missense possibly damaging 0.46
R0398:Slc5a4a UTSW 10 76182722 missense possibly damaging 0.46
R0799:Slc5a4a UTSW 10 76176534 missense probably benign 0.00
R1160:Slc5a4a UTSW 10 76178161 missense possibly damaging 0.52
R1471:Slc5a4a UTSW 10 76186528 missense probably damaging 0.99
R1720:Slc5a4a UTSW 10 76189269 splice site probably null
R1857:Slc5a4a UTSW 10 76166735 missense probably benign 0.27
R1858:Slc5a4a UTSW 10 76166735 missense probably benign 0.27
R1859:Slc5a4a UTSW 10 76166735 missense probably benign 0.27
R1942:Slc5a4a UTSW 10 76147588 missense unknown
R2016:Slc5a4a UTSW 10 76153580 missense probably benign 0.00
R2316:Slc5a4a UTSW 10 76178081 splice site probably null
R3420:Slc5a4a UTSW 10 76176573 missense probably benign 0.00
R3421:Slc5a4a UTSW 10 76176573 missense probably benign 0.00
R3422:Slc5a4a UTSW 10 76176573 missense probably benign 0.00
R3845:Slc5a4a UTSW 10 76189149 missense probably damaging 0.99
R3874:Slc5a4a UTSW 10 76181655 missense probably benign 0.42
R4523:Slc5a4a UTSW 10 76148362 missense probably damaging 0.99
R4537:Slc5a4a UTSW 10 76178095 nonsense probably null
R4538:Slc5a4a UTSW 10 76178095 nonsense probably null
R4755:Slc5a4a UTSW 10 76186564 missense probably benign 0.00
R4868:Slc5a4a UTSW 10 76178231 missense probably damaging 0.98
R5135:Slc5a4a UTSW 10 76147594 missense unknown
R5254:Slc5a4a UTSW 10 76182738 nonsense probably null
R6083:Slc5a4a UTSW 10 76147597 missense unknown
R6331:Slc5a4a UTSW 10 76178200 missense probably damaging 0.98
R7591:Slc5a4a UTSW 10 76147667 critical splice donor site probably benign
R7671:Slc5a4a UTSW 10 76147550 missense unknown
R8785:Slc5a4a UTSW 10 76150404 critical splice acceptor site probably benign
R8929:Slc5a4a UTSW 10 76170783 missense probably benign 0.27
R8993:Slc5a4a UTSW 10 76186535 missense probably benign 0.15
R9018:Slc5a4a UTSW 10 76166712 missense possibly damaging 0.67
R9474:Slc5a4a UTSW 10 76150404 critical splice acceptor site probably benign
R9567:Slc5a4a UTSW 10 76186562 missense probably benign 0.08
R9648:Slc5a4a UTSW 10 76166774 missense probably damaging 1.00
Z1177:Slc5a4a UTSW 10 76166744 missense probably benign 0.01
Z1177:Slc5a4a UTSW 10 76182847 nonsense probably null
Posted On 2016-08-02