Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03049:Slc18b1'

408995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc18b1

Ensembl Gene

ENSMUSG00000037455

Gene Name

solute carrier family 18, subfamily B, member 1

Synonyms

1110021L09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL03049

Quality Score

Status

Chromosome

Chromosomal Location

23796986-23827968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23822946 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2016-08-02