Incidental Mutation 'R6959:Slc18b1'
ID 568359
Institutional Source Beutler Lab
Gene Symbol Slc18b1
Ensembl Gene ENSMUSG00000037455
Gene Name solute carrier family 18, subfamily B, member 1
Synonyms 1110021L09Rik
MMRRC Submission 045069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6959 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 23796986-23827968 bp(+) (GRCm38)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 23826044 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119597] [ENSMUST00000179321]
AlphaFold D3Z5L6
Predicted Effect probably null
Transcript: ENSMUST00000119597
SMART Domains Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455

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 null
Transcript: ENSMUST00000179321
SMART Domains Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455

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
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik G A 11: 70,616,659 (GRCm38) G177R probably damaging Het
4932438A13Rik T G 3: 36,967,189 (GRCm38) V2154G probably damaging Het
Arhgef12 T C 9: 43,015,953 (GRCm38) T292A probably benign Het
Atp11a T A 8: 12,820,467 (GRCm38) D173E probably damaging Het
Btnl2 G A 17: 34,363,359 (GRCm38) V300M possibly damaging Het
Calcrl A T 2: 84,370,084 (GRCm38) N117K possibly damaging Het
Ccl22 A T 8: 94,746,900 (GRCm38) probably null Het
Cd200r1 T A 16: 44,790,176 (GRCm38) S216T probably damaging Het
Cdk5rap2 G A 4: 70,360,669 (GRCm38) probably null Het
Cfap157 A G 2: 32,784,248 (GRCm38) I47T probably damaging Het
Chodl G A 16: 78,946,684 (GRCm38) V220I probably damaging Het
Cntnap5b A G 1: 100,274,472 (GRCm38) E348G probably benign Het
Cstf3 A G 2: 104,649,462 (GRCm38) T225A probably benign Het
Duoxa1 T C 2: 122,303,837 (GRCm38) S267G probably damaging Het
Epb41l1 G A 2: 156,499,587 (GRCm38) S164N probably benign Het
Fam126a T C 5: 23,991,756 (GRCm38) I45V possibly damaging Het
Fat3 T C 9: 15,996,885 (GRCm38) D2607G possibly damaging Het
Galnt5 A G 2: 57,999,219 (GRCm38) D277G probably benign Het
Galnt6 A G 15: 100,714,125 (GRCm38) I212T probably damaging Het
Gatsl2 T C 5: 134,135,213 (GRCm38) S83P probably damaging Het
Gm45861 T C 8: 27,548,185 (GRCm38) probably null Het
Gm5478 T C 15: 101,645,448 (GRCm38) D243G probably damaging Het
Gm6657 A G 12: 78,202,296 (GRCm38) K139E probably damaging Het
Gm7682 T A 5: 94,447,032 (GRCm38) N250K possibly damaging Het
Gse1 A G 8: 120,570,971 (GRCm38) probably benign Het
Hspg2 A T 4: 137,519,289 (GRCm38) Q1096L probably benign Het
Idh3b A G 2: 130,281,527 (GRCm38) V181A probably damaging Het
Igf2bp3 T C 6: 49,117,148 (GRCm38) probably null Het
Ikzf2 A G 1: 69,538,770 (GRCm38) *382Q probably null Het
Impg2 A C 16: 56,268,330 (GRCm38) H1073P probably benign Het
Incenp T C 19: 9,876,770 (GRCm38) E639G unknown Het
Kcne4 A G 1: 78,817,886 (GRCm38) M84V probably benign Het
Ktn1 T A 14: 47,720,256 (GRCm38) F1004I probably damaging Het
Lrit1 G C 14: 37,060,095 (GRCm38) V242L probably damaging Het
Malrd1 A G 2: 16,218,009 (GRCm38) I2040V probably damaging Het
Mau2 T C 8: 70,033,228 (GRCm38) D110G probably damaging Het
Mei1 T C 15: 82,124,875 (GRCm38) V1237A probably benign Het
Mfsd11 T G 11: 116,861,669 (GRCm38) probably null Het
Ncapd2 A G 6: 125,168,920 (GRCm38) F1293L probably benign Het
Nf1 A G 11: 79,549,468 (GRCm38) T280A probably damaging Het
Obscn G T 11: 59,037,585 (GRCm38) A6085E probably damaging Het
Olfr623 T A 7: 103,660,843 (GRCm38) I136F probably damaging Het
Pdzd2 C T 15: 12,375,907 (GRCm38) A1381T probably benign Het
Ralgapa2 A G 2: 146,342,701 (GRCm38) V1462A probably damaging Het
Rbx1 T A 15: 81,470,962 (GRCm38) C56* probably null Het
Reln A G 5: 21,976,564 (GRCm38) S1774P probably damaging Het
Ros1 T A 10: 52,163,994 (GRCm38) E300D probably damaging Het
Sarnp T C 10: 128,848,268 (GRCm38) V111A possibly damaging Het
Scube1 G T 15: 83,629,435 (GRCm38) Q345K probably benign Het
Slc37a2 T A 9: 37,241,334 (GRCm38) T64S probably benign Het
Slit2 A G 5: 48,238,385 (GRCm38) D710G possibly damaging Het
Srp72 T A 5: 76,994,223 (GRCm38) Y375N possibly damaging Het
Tmco4 T A 4: 139,010,499 (GRCm38) V135D probably damaging Het
Trim62 A G 4: 128,909,162 (GRCm38) D335G probably damaging Het
Tsfm T C 10: 127,022,909 (GRCm38) M196V probably benign Het
Tspan10 T A 11: 120,444,696 (GRCm38) C211S probably damaging Het
Ttc21b A T 2: 66,231,312 (GRCm38) M498K probably benign Het
Ttc6 A T 12: 57,658,142 (GRCm38) probably null Het
Ttll1 G T 15: 83,502,196 (GRCm38) Y69* probably null Het
Usp28 T A 9: 49,001,542 (GRCm38) L31H probably damaging Het
Vmn2r86 A G 10: 130,446,531 (GRCm38) S739P probably damaging Het
Wdr64 T A 1: 175,705,989 (GRCm38) F64I probably damaging Het
Ywhaq A G 12: 21,396,280 (GRCm38) probably null Het
Zfr T C 15: 12,150,323 (GRCm38) S459P probably damaging Het
Other mutations in Slc18b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Slc18b1 APN 10 23,824,761 (GRCm38) critical splice donor site probably null
IGL01474:Slc18b1 APN 10 23,803,850 (GRCm38) missense probably benign 0.35
IGL01788:Slc18b1 APN 10 23,826,001 (GRCm38) missense probably damaging 0.96
IGL02660:Slc18b1 APN 10 23,810,952 (GRCm38) splice site probably benign
IGL03049:Slc18b1 APN 10 23,822,946 (GRCm38) missense probably benign 0.01
IGL03106:Slc18b1 APN 10 23,826,659 (GRCm38) makesense probably null
R0440:Slc18b1 UTSW 10 23,819,078 (GRCm38) missense probably benign 0.16
R0633:Slc18b1 UTSW 10 23,806,038 (GRCm38) missense probably benign 0.00
R1086:Slc18b1 UTSW 10 23,803,795 (GRCm38) missense probably benign 0.02
R1572:Slc18b1 UTSW 10 23,798,741 (GRCm38) splice site probably benign
R1842:Slc18b1 UTSW 10 23,805,993 (GRCm38) missense possibly damaging 0.87
R2256:Slc18b1 UTSW 10 23,810,922 (GRCm38) missense probably benign 0.25
R3423:Slc18b1 UTSW 10 23,822,976 (GRCm38) missense probably damaging 0.99
R3424:Slc18b1 UTSW 10 23,822,976 (GRCm38) missense probably damaging 0.99
R3425:Slc18b1 UTSW 10 23,822,976 (GRCm38) missense probably damaging 0.99
R3765:Slc18b1 UTSW 10 23,798,749 (GRCm38) missense probably damaging 0.99
R3766:Slc18b1 UTSW 10 23,798,749 (GRCm38) missense probably damaging 0.99
R4063:Slc18b1 UTSW 10 23,805,981 (GRCm38) missense probably benign 0.01
R4779:Slc18b1 UTSW 10 23,820,869 (GRCm38) missense possibly damaging 0.71
R5714:Slc18b1 UTSW 10 23,798,766 (GRCm38) missense probably benign 0.00
R5910:Slc18b1 UTSW 10 23,824,667 (GRCm38) intron probably benign
R6084:Slc18b1 UTSW 10 23,804,212 (GRCm38) missense probably benign 0.15
R6789:Slc18b1 UTSW 10 23,816,329 (GRCm38) missense probably benign 0.02
R6868:Slc18b1 UTSW 10 23,804,234 (GRCm38) missense possibly damaging 0.95
R7632:Slc18b1 UTSW 10 23,826,182 (GRCm38) missense probably benign
R8101:Slc18b1 UTSW 10 23,822,943 (GRCm38) missense probably damaging 1.00
R8757:Slc18b1 UTSW 10 23,816,300 (GRCm38) synonymous silent
R8838:Slc18b1 UTSW 10 23,820,866 (GRCm38) missense probably benign 0.25
R8868:Slc18b1 UTSW 10 23,810,853 (GRCm38) missense probably damaging 0.98
R9112:Slc18b1 UTSW 10 23,816,364 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GACTAGAGTGTCCTGCATCTTC -3'
(R):5'- CCAGCAGTTGACCATACCTTC -3'

Sequencing Primer
(F):5'- TACAGACGGTTGTGATCCAC -3'
(R):5'- AGCAGTTGACCATACCTTCTTCTTG -3'
Posted On 2019-07-10