Incidental Mutation 'IGL00546:Slc15a5'
ID332581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a5
Ensembl Gene ENSMUSG00000044378
Gene Namesolute carrier family 15, member 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL00546
Quality Score
Status
Chromosome6
Chromosomal Location137983586-138079916 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138043538 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 266 (Y266H)
Ref Sequence ENSEMBL: ENSMUSP00000129239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000141280] [ENSMUST00000171804]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050132
SMART Domains Protein: ENSMUSP00000050794
Gene: ENSMUSG00000044378

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
transmembrane domain 69 88 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
Pfam:PTR2 167 345 1.2e-8 PFAM
transmembrane domain 375 394 N/A INTRINSIC
low complexity region 417 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111873
SMART Domains Protein: ENSMUSP00000107504
Gene: ENSMUSG00000044378

DomainStartEndE-ValueType
transmembrane domain 7 28 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 130 152 N/A INTRINSIC
transmembrane domain 167 189 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141280
SMART Domains Protein: ENSMUSP00000145169
Gene: ENSMUSG00000044378

DomainStartEndE-ValueType
Pfam:PTR2 3 89 2.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154461
Predicted Effect probably damaging
Transcript: ENSMUST00000171804
AA Change: Y266H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: Y266H

DomainStartEndE-ValueType
Pfam:PTR2 101 485 4.3e-23 PFAM
low complexity region 536 543 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,090,576 V127A possibly damaging Het
9130008F23Rik C A 17: 40,880,113 V142L possibly damaging Het
Adnp2 T C 18: 80,128,867 T776A probably benign Het
Arid4a T A 12: 71,075,671 V942E probably benign Het
Bdnf C T 2: 109,723,547 P89S probably benign Het
Camsap3 A G 8: 3,602,077 D302G probably damaging Het
Cnot6 A T 11: 49,685,266 S158T probably benign Het
Dbt A C 3: 116,539,281 K250Q probably benign Het
Exd2 A G 12: 80,480,547 I171M probably benign Het
Gm5415 A T 1: 32,546,667 M54K probably benign Het
Ints14 A T 9: 64,972,792 N196I probably benign Het
Krt79 G T 15: 101,929,873 N482K probably benign Het
Loxhd1 G A 18: 77,405,976 A678T probably damaging Het
Mkl2 T G 16: 13,403,225 L766R possibly damaging Het
Mkl2 C A 16: 13,403,222 A754D probably benign Het
Mrpl51 A G 6: 125,193,214 probably benign Het
Nipsnap1 A G 11: 4,889,098 E126G possibly damaging Het
Plxnb2 A G 15: 89,162,366 probably benign Het
Ttn C A 2: 76,867,473 D73Y probably damaging Het
Other mutations in Slc15a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Slc15a5 APN 6 138043600 missense probably benign 0.00
R0288:Slc15a5 UTSW 6 138017916 splice site probably benign
R0355:Slc15a5 UTSW 6 138018114 splice site probably benign
R0825:Slc15a5 UTSW 6 138018089 missense possibly damaging 0.84
R1470:Slc15a5 UTSW 6 138072994 missense probably benign 0.01
R1470:Slc15a5 UTSW 6 138072994 missense probably benign 0.01
R1721:Slc15a5 UTSW 6 138072847 splice site probably benign
R1897:Slc15a5 UTSW 6 138079764 missense possibly damaging 0.93
R4159:Slc15a5 UTSW 6 138072940 missense possibly damaging 0.84
R4415:Slc15a5 UTSW 6 138079756 missense probably benign 0.34
R4703:Slc15a5 UTSW 6 138055645 missense probably benign 0.08
R4951:Slc15a5 UTSW 6 138073066 missense probably damaging 1.00
R4996:Slc15a5 UTSW 6 138043585 missense probably damaging 1.00
R5268:Slc15a5 UTSW 6 138079753 missense probably damaging 1.00
R5310:Slc15a5 UTSW 6 138073036 missense probably benign 0.28
R5321:Slc15a5 UTSW 6 137987438 missense probably benign 0.08
R5963:Slc15a5 UTSW 6 138079693 missense probably damaging 1.00
R5988:Slc15a5 UTSW 6 138043531 missense probably benign 0.07
R7400:Slc15a5 UTSW 6 138073057 missense probably benign 0.01
R7515:Slc15a5 UTSW 6 138043498 missense possibly damaging 0.89
R7604:Slc15a5 UTSW 6 138079786 missense probably damaging 1.00
R7707:Slc15a5 UTSW 6 138079747 missense probably damaging 1.00
R8344:Slc15a5 UTSW 6 138079900 missense probably damaging 1.00
R8410:Slc15a5 UTSW 6 138012155 missense
Z1188:Slc15a5 UTSW 6 138017958 missense
Posted On2015-08-05