Incidental Mutation 'R2304:Slco5a1'
ID 244514
Institutional Source Beutler Lab
Gene Symbol Slco5a1
Ensembl Gene ENSMUSG00000025938
Gene Name solute carrier organic anion transporter family, member 5A1
Synonyms A630033C23Rik
MMRRC Submission 040303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2304 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 12936773-13062874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12949486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 635 (G635S)
Ref Sequence ENSEMBL: ENSMUSP00000111061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115402] [ENSMUST00000115403] [ENSMUST00000136197] [ENSMUST00000146763] [ENSMUST00000147606] [ENSMUST00000188454]
AlphaFold E9PVD9
Predicted Effect probably damaging
Transcript: ENSMUST00000115402
AA Change: G635S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111061
Gene: ENSMUSG00000025938
AA Change: G635S

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
Pfam:MFS_1 137 548 3e-28 PFAM
KAZAL 559 602 3.26e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115403
AA Change: G635S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111062
Gene: ENSMUSG00000025938
AA Change: G635S

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
Pfam:MFS_1 137 547 2.8e-28 PFAM
KAZAL 559 602 3.26e-2 SMART
transmembrane domain 737 759 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133201
Predicted Effect probably benign
Transcript: ENSMUST00000136197
SMART Domains Protein: ENSMUSP00000139533
Gene: ENSMUSG00000025938

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
Pfam:MFS_1 137 548 3.6e-27 PFAM
KAZAL 559 601 4.3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146763
SMART Domains Protein: ENSMUSP00000139586
Gene: ENSMUSG00000025938

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
Pfam:OATP 130 352 8.4e-72 PFAM
Pfam:MFS_1 137 332 1.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147606
SMART Domains Protein: ENSMUSP00000140658
Gene: ENSMUSG00000025938

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
Pfam:OATP 130 478 1.5e-105 PFAM
Pfam:MFS_1 137 476 2.3e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188454
AA Change: G635S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140091
Gene: ENSMUSG00000025938
AA Change: G635S

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
Pfam:MFS_1 137 548 4.1e-28 PFAM
KAZAL 559 602 3.26e-2 SMART
transmembrane domain 737 759 N/A INTRINSIC
Meta Mutation Damage Score 0.3238 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T A 5: 8,142,366 (GRCm39) R806S probably damaging Het
Ccdc187 T C 2: 26,171,029 (GRCm39) K483R possibly damaging Het
Dcdc5 T A 2: 106,166,488 (GRCm39) noncoding transcript Het
Dvl1 C T 4: 155,940,041 (GRCm39) S391F probably damaging Het
Erg28 A G 12: 85,862,937 (GRCm39) L125P probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm5449 G T 13: 53,679,899 (GRCm39) noncoding transcript Het
Grid2ip T C 5: 143,373,595 (GRCm39) Y796H probably damaging Het
Mcrip1 A T 11: 120,435,519 (GRCm39) F39I probably damaging Het
Or5w12 T A 2: 87,502,238 (GRCm39) I158L probably benign Het
Prss53 T C 7: 127,487,479 (GRCm39) N291D probably benign Het
Ptpru A T 4: 131,499,879 (GRCm39) V1255D probably damaging Het
Rbl1 T C 2: 156,989,551 (GRCm39) T1023A probably benign Het
Rnaseh2b T C 14: 62,598,838 (GRCm39) S188P probably damaging Het
Sh2d6 T C 6: 72,497,542 (GRCm39) E20G probably damaging Het
Slc13a5 A G 11: 72,149,865 (GRCm39) V172A probably damaging Het
Sp8 G T 12: 118,812,304 (GRCm39) S53I possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Togaram1 G T 12: 65,023,630 (GRCm39) probably null Het
Trip11 A T 12: 101,865,236 (GRCm39) F146I possibly damaging Het
Vmn1r184 T C 7: 25,966,550 (GRCm39) S99P probably damaging Het
Xpot T C 10: 121,447,488 (GRCm39) I325V probably benign Het
Zfp786 A G 6: 47,797,633 (GRCm39) L435P probably damaging Het
Other mutations in Slco5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02264:Slco5a1 APN 1 12,942,219 (GRCm39) missense probably benign 0.01
IGL02330:Slco5a1 APN 1 13,009,284 (GRCm39) missense probably damaging 1.00
IGL02660:Slco5a1 APN 1 13,059,860 (GRCm39) missense probably damaging 1.00
IGL02904:Slco5a1 APN 1 12,991,321 (GRCm39) missense probably damaging 0.98
IGL02972:Slco5a1 APN 1 13,060,379 (GRCm39) nonsense probably null
IGL03100:Slco5a1 APN 1 12,949,504 (GRCm39) missense possibly damaging 0.67
IGL03270:Slco5a1 APN 1 12,942,252 (GRCm39) missense probably benign
R0969:Slco5a1 UTSW 1 13,060,116 (GRCm39) missense probably damaging 1.00
R1337:Slco5a1 UTSW 1 13,009,366 (GRCm39) missense probably benign 0.01
R1434:Slco5a1 UTSW 1 12,942,132 (GRCm39) missense probably benign 0.00
R1627:Slco5a1 UTSW 1 13,060,607 (GRCm39) missense probably damaging 1.00
R1767:Slco5a1 UTSW 1 13,059,839 (GRCm39) missense probably damaging 1.00
R1893:Slco5a1 UTSW 1 12,964,696 (GRCm39) missense probably damaging 1.00
R1894:Slco5a1 UTSW 1 12,942,483 (GRCm39) missense probably damaging 1.00
R2301:Slco5a1 UTSW 1 12,949,486 (GRCm39) missense probably damaging 0.98
R2302:Slco5a1 UTSW 1 12,949,486 (GRCm39) missense probably damaging 0.98
R2303:Slco5a1 UTSW 1 12,949,486 (GRCm39) missense probably damaging 0.98
R2349:Slco5a1 UTSW 1 12,991,376 (GRCm39) missense probably damaging 1.00
R2351:Slco5a1 UTSW 1 13,060,158 (GRCm39) missense probably benign 0.05
R3079:Slco5a1 UTSW 1 12,949,486 (GRCm39) missense probably damaging 0.98
R3949:Slco5a1 UTSW 1 13,059,833 (GRCm39) missense probably damaging 1.00
R4197:Slco5a1 UTSW 1 12,964,740 (GRCm39) missense probably damaging 1.00
R4380:Slco5a1 UTSW 1 13,009,392 (GRCm39) missense probably damaging 0.96
R4532:Slco5a1 UTSW 1 12,949,447 (GRCm39) missense probably damaging 1.00
R4750:Slco5a1 UTSW 1 12,949,504 (GRCm39) missense probably damaging 1.00
R5891:Slco5a1 UTSW 1 13,060,626 (GRCm39) missense probably benign 0.04
R6024:Slco5a1 UTSW 1 13,014,294 (GRCm39) missense probably damaging 1.00
R6332:Slco5a1 UTSW 1 12,991,409 (GRCm39) missense probably benign 0.27
R6492:Slco5a1 UTSW 1 13,060,151 (GRCm39) missense probably damaging 1.00
R6860:Slco5a1 UTSW 1 12,951,420 (GRCm39) intron probably benign
R6994:Slco5a1 UTSW 1 12,951,617 (GRCm39) missense probably damaging 1.00
R7121:Slco5a1 UTSW 1 13,060,661 (GRCm39) missense probably benign 0.00
R7747:Slco5a1 UTSW 1 13,060,346 (GRCm39) missense probably benign 0.05
R7802:Slco5a1 UTSW 1 13,060,700 (GRCm39) missense possibly damaging 0.76
R7895:Slco5a1 UTSW 1 13,059,927 (GRCm39) missense possibly damaging 0.52
R7984:Slco5a1 UTSW 1 12,951,608 (GRCm39) missense probably damaging 1.00
R8172:Slco5a1 UTSW 1 13,060,490 (GRCm39) nonsense probably null
R8536:Slco5a1 UTSW 1 12,951,525 (GRCm39) missense possibly damaging 0.69
R9052:Slco5a1 UTSW 1 13,060,397 (GRCm39) missense possibly damaging 0.62
R9208:Slco5a1 UTSW 1 13,059,802 (GRCm39) critical splice donor site probably null
R9579:Slco5a1 UTSW 1 12,949,383 (GRCm39) nonsense probably null
RF010:Slco5a1 UTSW 1 12,942,171 (GRCm39) missense probably damaging 1.00
X0065:Slco5a1 UTSW 1 12,942,436 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAAGCCCAGAAGAGCACGTATG -3'
(R):5'- GCCAGGCTTTATTCTTGACTG -3'

Sequencing Primer
(F):5'- ACGTATGGGTGCCTGCCAG -3'
(R):5'- GGCTTTATTCTTGACTGGCCTATAAC -3'
Posted On 2014-10-30