Mutagenetix > Incidental Mutations

Incidental Mutation 'R3765:Slc18b1'

274662

Institutional Source

Beutler Lab

Gene Symbol

Slc18b1

Ensembl Gene

ENSMUSG00000037455

Gene Name

solute carrier family 18, subfamily B, member 1

Synonyms

1110021L09Rik

MMRRC Submission

040742-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23796986-23827968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23798749 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 34 (D34G)

Ref Sequence

ENSEMBL: ENSMUSP00000121289 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000119597
AA Change: D16G

SMART Domains

Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: D16G

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 damaging
Transcript: ENSMUST00000133289
AA Change: D34G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121289
Gene: ENSMUSG00000037455
AA Change: D34G

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

unknown
Transcript: ENSMUST00000134170
AA Change: D16G

SMART Domains

Protein: ENSMUSP00000116940
Gene: ENSMUSG00000037455
AA Change: D16G

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

unknown
Transcript: ENSMUST00000179321
AA Change: D16G

SMART Domains

Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: D16G

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

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,608,837	V403A	probably benign	Het
Arid2	T	C	15: 96,370,714	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,192,231	W37R	probably damaging	Het
Bag3	C	T	7: 128,540,271	T162I	probably benign	Het
C4b	G	A	17: 34,729,840	P1545S	probably damaging	Het
Ccdc185	T	A	1: 182,747,552	H524L	possibly damaging	Het
Cfap43	T	C	19: 47,835,575	N119S	probably benign	Het
Churc1	C	A	12: 76,773,283	S22*	probably null	Het
Crbn	T	C	6: 106,795,026	K106E	possibly damaging	Het
Dag1	C	T	9: 108,208,199	G581E	probably damaging	Het
Dpp4	T	A	2: 62,386,436	T92S	probably benign	Het
Fam135a	T	C	1: 24,055,877	T137A	possibly damaging	Het
Fermt1	T	C	2: 132,906,702	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,955,986	I109N	probably damaging	Het
Frk	A	G	10: 34,484,005	M1V	probably null	Het
Fuk	A	G	8: 110,887,104	I775T	probably benign	Het
Gstm2	A	G	3: 107,984,030	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,745,025	S1145G	possibly damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Jmy	T	C	13: 93,464,711	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,578,682		probably null	Het
Mre11a	A	G	9: 14,809,847	N354S	probably benign	Het
Nbea	A	G	3: 56,005,549	V939A	probably damaging	Het
Nphs1	T	C	7: 30,471,210	S928P	probably damaging	Het
Olfr1463	G	A	19: 13,234,431	M60I	probably damaging	Het
Olfr19	A	G	16: 16,673,315	V222A	probably benign	Het
Olfr311	T	C	11: 58,841,294	F60S	probably damaging	Het
Olfr954	T	A	9: 39,461,624	Y61*	probably null	Het
Pla2g12b	G	A	10: 59,421,501	V169M	probably damaging	Het
Polr1c	C	T	17: 46,247,924	V14M	probably damaging	Het
Prg4	G	A	1: 150,451,371	S898L	probably damaging	Het
Prmt6	C	A	3: 110,250,194	E260*	probably null	Het
Ptx4	A	G	17: 25,122,868	T106A	probably benign	Het
Rab3il1	A	G	19: 10,028,309	T87A	probably damaging	Het
Sbf2	A	G	7: 110,375,581	V783A	probably damaging	Het
Scn2a	A	C	2: 65,682,710	D209A	possibly damaging	Het
Setd2	T	C	9: 110,594,246	L345P	probably damaging	Het
Slc9c1	A	T	16: 45,590,881	M934L	possibly damaging	Het
Slx4	A	G	16: 3,980,986	V1357A	probably damaging	Het
Spidr	T	C	16: 15,968,640	E413G	probably benign	Het
Taar1	A	G	10: 23,921,307	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,476,417	D197E	probably benign	Het
Taf1c	G	T	8: 119,600,485	Y418*	probably null	Het
Tanc2	A	G	11: 105,914,970	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,689	D235G	probably benign	Het
Tns3	G	A	11: 8,451,133	A1055V	probably benign	Het
Wdfy3	A	G	5: 101,861,400	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 108,792,762	N172S	probably damaging	Het
Zfp839	T	C	12: 110,855,163	V137A	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
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

Predicted Primers

PCR Primer
(F):5'- AGAAGCAGTCGAAATGGCTT -3'
(R):5'- TCTCTAAAATTATATAGCTGAAGGGCT -3'

Sequencing Primer
(F):5'- GTTGAAATTCTAACGGAAGAGTCTCC -3'
(R):5'- GCTGAAGGGCTTTCTAAAAATTAGAG -3'

Posted On

2015-04-02