Incidental Mutation 'R4063:Slc18b1'
ID 315972
Institutional Source Beutler Lab
Gene Symbol Slc18b1
Ensembl Gene ENSMUSG00000037455
Gene Name solute carrier family 18, subfamily B, member 1
Synonyms 1110021L09Rik
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4063 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 23672884-23703866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23681879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 148 (I148L)
Ref Sequence ENSEMBL: ENSMUSP00000112634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119597] [ENSMUST00000133289] [ENSMUST00000134170] [ENSMUST00000179321]
AlphaFold D3Z5L6
Predicted Effect probably benign
Transcript: ENSMUST00000119597
AA Change: I148L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: I148L

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 unknown
Transcript: ENSMUST00000127841
AA Change: I2L
Predicted Effect probably benign
Transcript: ENSMUST00000133289
SMART Domains Protein: ENSMUSP00000121289
Gene: ENSMUSG00000037455

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
transmembrane domain 90 112 N/A INTRINSIC
transmembrane domain 119 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134170
SMART Domains Protein: ENSMUSP00000116940
Gene: ENSMUSG00000037455

DomainStartEndE-ValueType
low complexity region 4 32 N/A INTRINSIC
Pfam:MFS_1 40 129 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179321
AA Change: I148L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: I148L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,606 (GRCm39) F145L probably benign Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
Atl2 T C 17: 80,157,588 (GRCm39) *413W probably null Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Proz A G 8: 13,114,621 (GRCm39) Y85C probably damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Trpm8 G A 1: 88,289,727 (GRCm39) R895H probably damaging Het
Txndc2 A G 17: 65,945,079 (GRCm39) I366T possibly damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Upp1 C A 11: 9,081,709 (GRCm39) P82Q probably damaging Het
Vim A G 2: 13,584,827 (GRCm39) probably null Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown Het
Other mutations in Slc18b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Slc18b1 APN 10 23,700,659 (GRCm39) critical splice donor site probably null
IGL01474:Slc18b1 APN 10 23,679,748 (GRCm39) missense probably benign 0.35
IGL01788:Slc18b1 APN 10 23,701,899 (GRCm39) missense probably damaging 0.96
IGL02660:Slc18b1 APN 10 23,686,850 (GRCm39) splice site probably benign
IGL03049:Slc18b1 APN 10 23,698,844 (GRCm39) missense probably benign 0.01
IGL03106:Slc18b1 APN 10 23,702,557 (GRCm39) makesense probably null
R0440:Slc18b1 UTSW 10 23,694,976 (GRCm39) missense probably benign 0.16
R0633:Slc18b1 UTSW 10 23,681,936 (GRCm39) missense probably benign 0.00
R1086:Slc18b1 UTSW 10 23,679,693 (GRCm39) missense probably benign 0.02
R1572:Slc18b1 UTSW 10 23,674,639 (GRCm39) splice site probably benign
R1842:Slc18b1 UTSW 10 23,681,891 (GRCm39) missense possibly damaging 0.87
R2256:Slc18b1 UTSW 10 23,686,820 (GRCm39) missense probably benign 0.25
R3423:Slc18b1 UTSW 10 23,698,874 (GRCm39) missense probably damaging 0.99
R3424:Slc18b1 UTSW 10 23,698,874 (GRCm39) missense probably damaging 0.99
R3425:Slc18b1 UTSW 10 23,698,874 (GRCm39) missense probably damaging 0.99
R3765:Slc18b1 UTSW 10 23,674,647 (GRCm39) missense probably damaging 0.99
R3766:Slc18b1 UTSW 10 23,674,647 (GRCm39) missense probably damaging 0.99
R4779:Slc18b1 UTSW 10 23,696,767 (GRCm39) missense possibly damaging 0.71
R5714:Slc18b1 UTSW 10 23,674,664 (GRCm39) missense probably benign 0.00
R5910:Slc18b1 UTSW 10 23,700,565 (GRCm39) intron probably benign
R6084:Slc18b1 UTSW 10 23,680,110 (GRCm39) missense probably benign 0.15
R6789:Slc18b1 UTSW 10 23,692,227 (GRCm39) missense probably benign 0.02
R6868:Slc18b1 UTSW 10 23,680,132 (GRCm39) missense possibly damaging 0.95
R6959:Slc18b1 UTSW 10 23,701,942 (GRCm39) splice site probably null
R7632:Slc18b1 UTSW 10 23,702,080 (GRCm39) missense probably benign
R8101:Slc18b1 UTSW 10 23,698,841 (GRCm39) missense probably damaging 1.00
R8757:Slc18b1 UTSW 10 23,692,198 (GRCm39) synonymous silent
R8838:Slc18b1 UTSW 10 23,696,764 (GRCm39) missense probably benign 0.25
R8868:Slc18b1 UTSW 10 23,686,751 (GRCm39) missense probably damaging 0.98
R9112:Slc18b1 UTSW 10 23,692,262 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGGATAGCTAAGCTGTCATGGC -3'
(R):5'- TGCTATTGGAACTGGAAATCACAG -3'

Sequencing Primer
(F):5'- AGGCTGGTCTTGAACTCACACAG -3'
(R):5'- TATTGGAACTGGAAATCACAGTGAAG -3'
Posted On 2015-05-15