Incidental Mutation 'IGL02090:Slc15a5'
ID279426
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 #IGL02090
Quality Score
Status
Chromosome6
Chromosomal Location137983586-138079916 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 138043600 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 245 (R245H)
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 benign
Transcript: ENSMUST00000171804
AA Change: R245H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: R245H

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 164,185,705 T482A probably damaging Het
Adh1 T C 3: 138,282,785 I173T possibly damaging Het
Apoa1 T C 9: 46,229,250 S60P possibly damaging Het
Blnk A G 19: 40,934,485 V396A probably benign Het
Borcs8 A G 8: 70,166,380 D204G probably damaging Het
Cbfa2t2 A G 2: 154,531,416 probably benign Het
Cdkal1 T G 13: 29,517,510 I319L probably benign Het
Celsr1 T A 15: 85,907,721 T2560S possibly damaging Het
Chd8 A G 14: 52,227,234 probably null Het
Cyp4f39 T C 17: 32,470,958 probably benign Het
Dnah10 A G 5: 124,789,812 N2265S probably damaging Het
Dnah5 C T 15: 28,240,041 probably benign Het
Epgn G A 5: 91,033,957 G133E probably damaging Het
Fam26e G A 10: 34,096,265 P58L probably damaging Het
Fdx1l C A 9: 21,073,470 V13F probably benign Het
Gabarapl2 A G 8: 111,941,199 Y25C probably damaging Het
Gigyf1 G A 5: 137,525,564 probably null Het
Gm6040 G A 8: 20,917,153 probably benign Het
Gm8229 T C 14: 44,366,597 L81P unknown Het
Gstz1 A G 12: 87,163,754 E137G probably benign Het
Htra1 T C 7: 130,936,378 V36A probably benign Het
Ifnlr1 T C 4: 135,705,267 V338A probably benign Het
Igsf8 A G 1: 172,312,589 probably benign Het
Khdc1a T A 1: 21,350,988 F132L probably benign Het
Kifc3 G A 8: 95,102,480 S561L probably damaging Het
Mpi T C 9: 57,550,653 T89A probably benign Het
Ncor2 A T 5: 125,034,403 M1281K probably damaging Het
Olfr1222 T C 2: 89,125,677 N18S probably benign Het
Olfr1299 G T 2: 111,664,988 C254F probably damaging Het
Olfr792 T C 10: 129,541,307 Y257H probably damaging Het
Olfr806 T A 10: 129,738,312 I202L probably benign Het
Otog G A 7: 46,300,147 G2403D probably damaging Het
Pdgfb C A 15: 80,013,983 A6S probably benign Het
Pfkm T C 15: 98,123,240 probably null Het
Plcb4 A G 2: 135,947,121 M274V probably benign Het
Ppm1m A G 9: 106,196,802 probably null Het
Rptn A G 3: 93,396,734 D458G possibly damaging Het
Sertad3 C T 7: 27,476,525 S128F probably benign Het
Sgo2b A T 8: 63,927,089 L903Q probably damaging Het
Slc24a5 A T 2: 125,068,298 T40S probably benign Het
Smchd1 T C 17: 71,431,253 N539S possibly damaging Het
Tlr11 A G 14: 50,363,032 D825G probably damaging Het
Top3b T G 16: 16,891,470 V674G possibly damaging Het
Urb2 G A 8: 124,028,237 V228I probably benign Het
Usp24 C T 4: 106,411,426 A2061V possibly damaging Het
Wdr72 C A 9: 74,154,930 H453N possibly damaging Het
Xkr9 T C 1: 13,701,376 M372T probably damaging Het
Zc3h12d T G 10: 7,867,332 S289A probably benign Het
Zfp607b A T 7: 27,698,715 M75L possibly damaging Het
Other mutations in Slc15a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Slc15a5 APN 6 138043538 missense probably damaging 1.00
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 On2015-04-16