Incidental Mutation 'IGL03049:Slc18b1'
ID408995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc18b1
Ensembl Gene ENSMUSG00000037455
Gene Namesolute carrier family 18, subfamily B, member 1
Synonyms1110021L09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03049
Quality Score
Status
Chromosome10
Chromosomal Location23796986-23827968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23822946 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 338 (V338A)
Ref Sequence ENSEMBL: ENSMUSP00000112634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119597] [ENSMUST00000179321]
Predicted Effect probably benign
Transcript: ENSMUST00000119597
AA Change: V338A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: V338A

DomainStartEndE-ValueType
low complexity region 4 32 N/A INTRINSIC
Pfam:MFS_1 40 254 3.2e-26 PFAM
Pfam:MFS_1 237 454 7.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143931
Predicted Effect probably benign
Transcript: ENSMUST00000179321
AA Change: V340A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: V340A

DomainStartEndE-ValueType
low complexity region 4 32 N/A INTRINSIC
Pfam:MFS_1 40 262 2.4e-26 PFAM
Pfam:LacY_symp 226 454 3.9e-8 PFAM
Pfam:MFS_1 241 456 4.9e-23 PFAM
Pfam:MFS_2 253 458 3.7e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef19 A G 4: 141,254,316 H645R probably damaging Het
Asic5 A G 3: 81,996,949 probably benign Het
Atp6v0a2 T C 5: 124,712,781 F424L probably damaging Het
Clca4a A T 3: 144,970,755 probably benign Het
Eif3k A G 7: 28,971,433 S178P possibly damaging Het
Elp2 C T 18: 24,631,459 T621I probably benign Het
Exoc3l4 T C 12: 111,423,401 S137P probably damaging Het
Gm14393 C A 2: 175,061,788 G109C probably damaging Het
Gp2 A G 7: 119,450,294 V340A possibly damaging Het
Hic2 A G 16: 17,257,936 S210G probably benign Het
Lcn3 T A 2: 25,765,574 M1K probably null Het
Ldlr A G 9: 21,745,819 E692G probably benign Het
Ly75 T C 2: 60,352,070 N587S probably damaging Het
Msh2 T C 17: 87,708,509 F523S probably damaging Het
Mtmr4 T A 11: 87,614,234 I1185N probably damaging Het
Ncoa6 T A 2: 155,419,014 K519N probably damaging Het
Olfr1195 C T 2: 88,683,490 V81M possibly damaging Het
Olfr1356 T A 10: 78,847,522 H131L possibly damaging Het
Olfr619 A T 7: 103,604,091 I146F probably damaging Het
Ppp1r13b T C 12: 111,833,229 T705A probably benign Het
Ripor1 A G 8: 105,615,447 D119G probably damaging Het
Scn10a A G 9: 119,665,990 V395A probably damaging Het
Usp10 A G 8: 119,956,627 T746A probably benign Het
Other mutations in Slc18b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Slc18b1 APN 10 23824761 critical splice donor site probably null
IGL01474:Slc18b1 APN 10 23803850 missense probably benign 0.35
IGL01788:Slc18b1 APN 10 23826001 missense probably damaging 0.96
IGL02660:Slc18b1 APN 10 23810952 splice site probably benign
IGL03106:Slc18b1 APN 10 23826659 makesense probably null
R0440:Slc18b1 UTSW 10 23819078 missense probably benign 0.16
R0633:Slc18b1 UTSW 10 23806038 missense probably benign 0.00
R1086:Slc18b1 UTSW 10 23803795 missense probably benign 0.02
R1572:Slc18b1 UTSW 10 23798741 splice site probably benign
R1842:Slc18b1 UTSW 10 23805993 missense possibly damaging 0.87
R2256:Slc18b1 UTSW 10 23810922 missense probably benign 0.25
R3423:Slc18b1 UTSW 10 23822976 missense probably damaging 0.99
R3424:Slc18b1 UTSW 10 23822976 missense probably damaging 0.99
R3425:Slc18b1 UTSW 10 23822976 missense probably damaging 0.99
R3765:Slc18b1 UTSW 10 23798749 missense probably damaging 0.99
R3766:Slc18b1 UTSW 10 23798749 missense probably damaging 0.99
R4063:Slc18b1 UTSW 10 23805981 missense probably benign 0.01
R4779:Slc18b1 UTSW 10 23820869 missense possibly damaging 0.71
R5714:Slc18b1 UTSW 10 23798766 missense probably benign 0.00
R5910:Slc18b1 UTSW 10 23824667 intron probably benign
R6084:Slc18b1 UTSW 10 23804212 missense probably benign 0.15
R6789:Slc18b1 UTSW 10 23816329 missense probably benign 0.02
R6868:Slc18b1 UTSW 10 23804234 missense possibly damaging 0.95
R6959:Slc18b1 UTSW 10 23826044 splice site probably null
R7632:Slc18b1 UTSW 10 23826182 missense probably benign
R8101:Slc18b1 UTSW 10 23822943 missense probably damaging 1.00
R8838:Slc18b1 UTSW 10 23820866 missense probably benign 0.25
R8868:Slc18b1 UTSW 10 23810853 missense probably damaging 0.98
Posted On2016-08-02