Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Slc18b1'

46697

Institutional Source

Beutler Lab

Gene Symbol

Slc18b1

Ensembl Gene

ENSMUSG00000037455

Gene Name

solute carrier family 18, subfamily B, member 1

Synonyms

1110021L09Rik

MMRRC Submission

038641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

23796986-23827968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23819078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 274 (Y274N)

Ref Sequence

ENSEMBL: ENSMUSP00000137431 (fasta)

Gene Model

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

AlphaFold

D3Z5L6

Predicted Effect

probably benign
Transcript: ENSMUST00000119597
AA Change: Y272N

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: Y272N

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

probably benign
Transcript: ENSMUST00000179321
AA Change: Y274N

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: Y274N

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

0.1037

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,228,493	R30W	probably damaging	Het
Adam7	T	C	14: 68,510,856		probably null	Het
Agl	A	T	3: 116,758,806	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,064,569	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,487,208	D316V	probably benign	Het
App	C	A	16: 85,056,414	E259*	probably null	Het
Arhgef4	A	G	1: 34,745,448		probably null	Het
Armc9	G	A	1: 86,194,262		probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,986,653	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,625,816		probably null	Het
Ccar1	C	T	10: 62,780,457	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,060,245	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917	I205V	probably benign	Het
Cfap52	T	A	11: 67,954,088	I52L	probably benign	Het
Chd8	T	A	14: 52,204,826	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,451,413	T423I	probably damaging	Het
Col13a1	T	C	10: 61,867,483	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,469,163	V592M	probably damaging	Het
Ddx31	A	T	2: 28,857,132	I208F	probably damaging	Het
Dlat	A	T	9: 50,645,119		probably null	Het
Eml4	T	C	17: 83,446,058		probably null	Het
Enpp2	T	A	15: 54,847,237		probably benign	Het
Fryl	T	C	5: 73,086,972	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,330,316	T15I	probably benign	Het
Gm21834	T	C	17: 57,742,126	T32A	possibly damaging	Het
Golga2	A	G	2: 32,302,933	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,840,169		probably null	Het
Igkv4-69	A	G	6: 69,284,269		probably benign	Het
Inpp5j	T	C	11: 3,501,150	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980		probably benign	Het
Klhl36	A	G	8: 119,876,551	E515G	probably damaging	Het
Lifr	C	T	15: 7,157,191	R59*	probably null	Het
Lrif1	A	T	3: 106,734,398	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,869,098	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,770,704	D307E	probably benign	Het
Mpv17l	T	C	16: 13,944,719	F27L	probably damaging	Het
Mta3	C	T	17: 83,766,587	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,792,034	Y202*	probably null	Het
Naprt	A	G	15: 75,891,069		probably benign	Het
Npr2	T	A	4: 43,650,315	V960D	probably damaging	Het
Oca2	A	T	7: 56,423,352	Y765F	probably benign	Het
Olfr715	A	T	7: 107,128,732	H220Q	probably benign	Het
Plxna2	T	A	1: 194,644,404	Y215*	probably null	Het
Prdm16	G	A	4: 154,476,627		probably benign	Het
Ptn	A	G	6: 36,744,497	S3P	probably benign	Het
Pus10	T	C	11: 23,673,331		probably benign	Het
Rad21	A	T	15: 51,968,358	D442E	probably benign	Het
Rmdn2	A	G	17: 79,667,955	H291R	probably damaging	Het
Rp1	A	G	1: 4,345,640	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,408,160	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,898,953		probably benign	Het
Slc13a2	T	C	11: 78,403,175	N254D	probably benign	Het
Slc16a8	T	A	15: 79,252,607	I132F	probably damaging	Het
Slc45a2	A	T	15: 11,000,817	M1L	probably benign	Het
Smc1b	A	G	15: 85,112,673		probably benign	Het
Stab2	T	C	10: 86,949,928	S617G	probably benign	Het
Stk10	A	G	11: 32,604,190	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,661,398	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,338,812	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,236,382	V309A	probably benign	Het
Tubgcp6	A	G	15: 89,103,065	I1235T	probably benign	Het
Usp8	A	G	2: 126,725,390	I110V	probably benign	Het
Vps13c	G	A	9: 67,972,861	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp207	T	A	11: 80,395,507		probably benign	Het
Zfp748	A	C	13: 67,553,025		probably null	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
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
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'- CCACAACAGGAATACTGCGTGTGAC -3'
(R):5'- TCACTGAAATCCTCAACTTGTGCCC -3'

Sequencing Primer
(F):5'- ATACTGCGTGTGACTGATAGAC -3'
(R):5'- CTCTGAGCAGCAACTGAGG -3'

Posted On

2013-06-11