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
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL01725
Quality Score
Status
Chromosome 10
Chromosomal Location 76147451-76189265 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76181674 bp (GRCm38)
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: 146,952,269 I297F probably damaging Het
Abcc4 A T 14: 118,500,829 L1170I probably damaging Het
Ankhd1 A G 18: 36,648,153 D2086G probably benign Het
Arhgap11a A T 2: 113,837,552 V368D probably damaging Het
Ccdc138 A G 10: 58,528,923 T334A possibly damaging Het
Ctnna2 T C 6: 77,641,365 R205G possibly damaging Het
Galnt4 A G 10: 99,109,957 M515V probably damaging Het
Grhl1 T C 12: 24,609,748 probably benign Het
Hfm1 T C 5: 106,917,379 T145A probably benign Het
Kntc1 G A 5: 123,764,190 V299I probably benign Het
Lin28a G A 4: 134,007,930 R52* probably null Het
Mast4 A T 13: 102,750,512 probably null Het
Nme4 G A 17: 26,092,066 A175V probably benign Het
Olfr376 A T 11: 73,375,156 M136L probably benign Het
Olfr615 T A 7: 103,561,075 Y199* probably null Het
Pi16 T A 17: 29,326,320 S186T probably damaging Het
Pigc T A 1: 161,971,345 probably benign Het
Rapgef4 A T 2: 72,174,874 I222L probably benign Het
Scap T A 9: 110,381,554 probably benign Het
Sec24a A C 11: 51,723,578 probably null Het
Sh3tc1 T C 5: 35,700,316 E1176G probably benign Het
Sidt1 A T 16: 44,284,282 D255E probably benign Het
Slc16a9 T C 10: 70,283,985 M486T probably benign Het
Slc28a3 A G 13: 58,578,510 F155S probably benign Het
Stxbp5 T C 10: 9,817,411 R324G probably damaging Het
Tas2r120 C T 6: 132,657,089 R45* probably null Het
Tfcp2l1 T C 1: 118,668,636 V367A possibly damaging Het
Vmn2r116 A T 17: 23,386,645 D177V probably damaging Het
Vmn2r70 A G 7: 85,559,386 S628P probably damaging Het
Other mutations in Slc5a4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Slc5a4a APN 10 76163733 missense probably damaging 1.00
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
IGL03258:Slc5a4a APN 10 76150552 missense possibly damaging 0.81
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 2014-01-21