Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:Slc18b1'

536029

Institutional Source

Beutler Lab

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: 0.084) question?

Stock #

R6868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23796986-23827968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23804234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 109 (V109A)

Ref Sequence

ENSEMBL: ENSMUSP00000116940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119597] [ENSMUST00000133289] [ENSMUST00000134170] [ENSMUST00000179321]

AlphaFold

D3Z5L6

Predicted Effect

probably benign
Transcript: ENSMUST00000119597
AA Change: V109A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: V109A

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

possibly damaging
Transcript: ENSMUST00000133289
AA Change: V127A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121289
Gene: ENSMUSG00000037455
AA Change: V127A

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000134170
AA Change: V109A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116940
Gene: ENSMUSG00000037455
AA Change: V109A

Domain	Start	End	E-Value	Type
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: V109A

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: V109A

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,695	N204I	probably damaging	Het
Aasdh	C	T	5: 76,891,680	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,773,476	F126L	probably benign	Het
Agxt2	T	C	15: 10,373,769	L87P	probably damaging	Het
Alcam	G	A	16: 52,268,385	S554F	probably damaging	Het
Ambra1	T	C	2: 91,917,533	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,534,760	V150G	unknown	Het
C3	T	C	17: 57,204,029	Y1659C	possibly damaging	Het
Cacna1s	G	A	1: 136,092,694	R823Q	probably benign	Het
Cdk4	T	C	10: 127,065,001	V174A	probably benign	Het
Ces2h	T	A	8: 105,018,423	N396K	probably benign	Het
Chd7	T	C	4: 8,811,501		probably null	Het
Cnih4	A	G	1: 181,166,197	I76V	probably null	Het
Csmd2	G	A	4: 128,442,840	V1404I	probably benign	Het
Ctrb1	T	C	8: 111,689,403	D53G	probably benign	Het
Cul9	C	A	17: 46,522,183	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,763,503	V1230A	possibly damaging	Het
Dgat2	T	C	7: 99,158,306	D219G	probably benign	Het
Dgkh	T	C	14: 78,624,853	T225A	probably damaging	Het
Dock9	G	T	14: 121,586,264	A1412E	probably benign	Het
Dscam	C	T	16: 96,829,940	V292M	probably damaging	Het
Fam183b	C	T	11: 58,792,906	D113N	probably damaging	Het
Fras1	T	A	5: 96,682,378	V1509E	probably benign	Het
Fryl	T	C	5: 73,068,803	Q1839R	probably damaging	Het
Gcat	A	G	15: 79,035,366	D177G	probably damaging	Het
Gss	T	C	2: 155,567,812	T235A	possibly damaging	Het
Ints10	T	A	8: 68,797,798	M114K	probably damaging	Het
Ints5	T	G	19: 8,897,386	L903R	probably damaging	Het
Lipo2	G	T	19: 33,748,462	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,680,309	C494Y	probably damaging	Het
Milr1	T	C	11: 106,763,921	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,328,418	I278N	probably damaging	Het
Mst1r	T	A	9: 107,915,933		probably null	Het
Myh15	G	A	16: 49,069,403	C119Y	probably damaging	Het
Nap1l1	G	A	10: 111,494,808	G358D	probably damaging	Het
Nav3	T	C	10: 109,693,166	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 26,841,294	E21G	probably damaging	Het
Nos2	C	T	11: 78,957,506	R967C	probably benign	Het
Olfr811	T	C	10: 129,802,168	D119G	probably damaging	Het
Parp10	T	C	15: 76,243,106	R44G	probably damaging	Het
Pced1b	A	G	15: 97,384,341	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,353,612	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,438	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,590,852	L449P	probably damaging	Het
Prkd1	T	C	12: 50,425,537	R198G	probably damaging	Het
Pth2r	C	A	1: 65,388,479	A437E	probably benign	Het
Ptprh	A	T	7: 4,601,865	I60N	probably benign	Het
Pxmp2	C	T	5: 110,285,980	R9Q	probably damaging	Het
Scarb2	T	C	5: 92,485,309	K55E	probably benign	Het
Slx4ip	T	A	2: 137,000,210	D18E	probably damaging	Het
Stk40	A	G	4: 126,123,814	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,084,306	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,657,650		probably null	Het
Tmc6	T	A	11: 117,774,317	I377F	probably benign	Het
Tmem131l	T	C	3: 83,961,631	I146V	probably damaging	Het
Trac	T	A	14: 54,220,592		probably benign	Het
Trpm7	T	C	2: 126,837,414	D409G	probably damaging	Het
Usp39	A	T	6: 72,337,751	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 26,267,302	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,545,218	I33L	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
IGL03049:Slc18b1	APN	10	23822946	missense	probably benign	0.01
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
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
R8757:Slc18b1	UTSW	10	23816300	synonymous	silent
R8838:Slc18b1	UTSW	10	23820866	missense	probably benign	0.25
R8868:Slc18b1	UTSW	10	23810853	missense	probably damaging	0.98
R9112:Slc18b1	UTSW	10	23816364	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATGCCTCTGGACAGTGTAC -3'
(R):5'- GCTGGTTGGTTTAAAGAGCC -3'

Sequencing Primer
(F):5'- CCTCTGGACAGTGTACATTAAAATTC -3'
(R):5'- TGGCAACCTGAGTTCGATAC -3'

Posted On

2018-10-18