Incidental Mutation 'IGL01725:Slc5a4a'
ID 105249
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
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL01725
Quality Score
Status
Chromosome 10
Chromosomal Location 75983285-76025099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76017508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 435 (V435A)
Ref Sequence ENSEMBL: ENSMUSP00000020450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020450]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020450
AA Change: V435A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: V435A

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,853,767 (GRCm39) I297F probably damaging Het
Abcc4 A T 14: 118,738,241 (GRCm39) L1170I probably damaging Het
Ankhd1 A G 18: 36,781,206 (GRCm39) D2086G probably benign Het
Arhgap11a A T 2: 113,667,897 (GRCm39) V368D probably damaging Het
Ccdc138 A G 10: 58,364,745 (GRCm39) T334A possibly damaging Het
Ctnna2 T C 6: 77,618,348 (GRCm39) R205G possibly damaging Het
Galnt4 A G 10: 98,945,819 (GRCm39) M515V probably damaging Het
Grhl1 T C 12: 24,659,747 (GRCm39) probably benign Het
Hfm1 T C 5: 107,065,245 (GRCm39) T145A probably benign Het
Kntc1 G A 5: 123,902,253 (GRCm39) V299I probably benign Het
Lin28a G A 4: 133,735,241 (GRCm39) R52* probably null Het
Mast4 A T 13: 102,887,020 (GRCm39) probably null Het
Nme4 G A 17: 26,311,040 (GRCm39) A175V probably benign Het
Or1e1c A T 11: 73,265,982 (GRCm39) M136L probably benign Het
Or51ah3 T A 7: 103,210,282 (GRCm39) Y199* probably null Het
Pi16 T A 17: 29,545,294 (GRCm39) S186T probably damaging Het
Pigc T A 1: 161,798,914 (GRCm39) probably benign Het
Rapgef4 A T 2: 72,005,218 (GRCm39) I222L probably benign Het
Scap T A 9: 110,210,622 (GRCm39) probably benign Het
Sec24a A C 11: 51,614,405 (GRCm39) probably null Het
Sh3tc1 T C 5: 35,857,660 (GRCm39) E1176G probably benign Het
Sidt1 A T 16: 44,104,645 (GRCm39) D255E probably benign Het
Slc16a9 T C 10: 70,119,815 (GRCm39) M486T probably benign Het
Slc28a3 A G 13: 58,726,324 (GRCm39) F155S probably benign Het
Stxbp5 T C 10: 9,693,155 (GRCm39) R324G probably damaging Het
Tas2r120 C T 6: 132,634,052 (GRCm39) R45* probably null Het
Tfcp2l1 T C 1: 118,596,366 (GRCm39) V367A possibly damaging Het
Vmn2r116 A T 17: 23,605,619 (GRCm39) D177V probably damaging Het
Vmn2r70 A G 7: 85,208,594 (GRCm39) S628P probably damaging Het
Other mutations in Slc5a4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Slc5a4a APN 10 75,999,567 (GRCm39) missense probably damaging 1.00
IGL02629:Slc5a4a APN 10 75,983,413 (GRCm39) missense unknown
IGL02976:Slc5a4a APN 10 76,006,527 (GRCm39) missense possibly damaging 0.67
IGL03255:Slc5a4a APN 10 75,986,346 (GRCm39) missense probably damaging 1.00
IGL03258:Slc5a4a APN 10 75,986,386 (GRCm39) missense possibly damaging 0.81
R0054:Slc5a4a UTSW 10 76,014,031 (GRCm39) missense probably null 0.00
R0244:Slc5a4a UTSW 10 76,024,986 (GRCm39) missense possibly damaging 0.46
R0398:Slc5a4a UTSW 10 76,018,556 (GRCm39) missense possibly damaging 0.46
R0799:Slc5a4a UTSW 10 76,012,368 (GRCm39) missense probably benign 0.00
R1160:Slc5a4a UTSW 10 76,013,995 (GRCm39) missense possibly damaging 0.52
R1471:Slc5a4a UTSW 10 76,022,362 (GRCm39) missense probably damaging 0.99
R1720:Slc5a4a UTSW 10 76,025,103 (GRCm39) splice site probably null
R1857:Slc5a4a UTSW 10 76,002,569 (GRCm39) missense probably benign 0.27
R1858:Slc5a4a UTSW 10 76,002,569 (GRCm39) missense probably benign 0.27
R1859:Slc5a4a UTSW 10 76,002,569 (GRCm39) missense probably benign 0.27
R1942:Slc5a4a UTSW 10 75,983,422 (GRCm39) missense unknown
R2016:Slc5a4a UTSW 10 75,989,414 (GRCm39) missense probably benign 0.00
R2316:Slc5a4a UTSW 10 76,013,915 (GRCm39) splice site probably null
R3420:Slc5a4a UTSW 10 76,012,407 (GRCm39) missense probably benign 0.00
R3421:Slc5a4a UTSW 10 76,012,407 (GRCm39) missense probably benign 0.00
R3422:Slc5a4a UTSW 10 76,012,407 (GRCm39) missense probably benign 0.00
R3845:Slc5a4a UTSW 10 76,024,983 (GRCm39) missense probably damaging 0.99
R3874:Slc5a4a UTSW 10 76,017,489 (GRCm39) missense probably benign 0.42
R4523:Slc5a4a UTSW 10 75,984,196 (GRCm39) missense probably damaging 0.99
R4537:Slc5a4a UTSW 10 76,013,929 (GRCm39) nonsense probably null
R4538:Slc5a4a UTSW 10 76,013,929 (GRCm39) nonsense probably null
R4755:Slc5a4a UTSW 10 76,022,398 (GRCm39) missense probably benign 0.00
R4868:Slc5a4a UTSW 10 76,014,065 (GRCm39) missense probably damaging 0.98
R5135:Slc5a4a UTSW 10 75,983,428 (GRCm39) missense unknown
R5254:Slc5a4a UTSW 10 76,018,572 (GRCm39) nonsense probably null
R6083:Slc5a4a UTSW 10 75,983,431 (GRCm39) missense unknown
R6331:Slc5a4a UTSW 10 76,014,034 (GRCm39) missense probably damaging 0.98
R7591:Slc5a4a UTSW 10 75,983,501 (GRCm39) critical splice donor site probably benign
R7671:Slc5a4a UTSW 10 75,983,384 (GRCm39) missense unknown
R8785:Slc5a4a UTSW 10 75,986,238 (GRCm39) critical splice acceptor site probably benign
R8929:Slc5a4a UTSW 10 76,006,617 (GRCm39) missense probably benign 0.27
R8993:Slc5a4a UTSW 10 76,022,369 (GRCm39) missense probably benign 0.15
R9018:Slc5a4a UTSW 10 76,002,546 (GRCm39) missense possibly damaging 0.67
R9474:Slc5a4a UTSW 10 75,986,238 (GRCm39) critical splice acceptor site probably benign
R9567:Slc5a4a UTSW 10 76,022,396 (GRCm39) missense probably benign 0.08
R9648:Slc5a4a UTSW 10 76,002,608 (GRCm39) missense probably damaging 1.00
Z1177:Slc5a4a UTSW 10 76,018,681 (GRCm39) nonsense probably null
Z1177:Slc5a4a UTSW 10 76,002,578 (GRCm39) missense probably benign 0.01
Posted On 2014-01-21