Mutagenetix > Incidental Mutations

Incidental Mutation 'R1894:Slco5a1'

211764

Institutional Source

Beutler Lab

Gene Symbol

Slco5a1

Ensembl Gene

ENSMUSG00000025938

Gene Name

solute carrier organic anion transporter family, member 5A1

Synonyms

A630033C23Rik

MMRRC Submission

039914-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12866549-12992650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12872259 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 721 (C721Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115402] [ENSMUST00000115403] [ENSMUST00000188454]

Predicted Effect

probably benign
Transcript: ENSMUST00000115402

SMART Domains

Protein: ENSMUSP00000111061
Gene: ENSMUSG00000025938

Domain	Start	End	E-Value	Type
low complexity region	80	93	N/A	INTRINSIC
Pfam:MFS_1	137	548	3e-28	PFAM
KAZAL	559	602	3.26e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115403
AA Change: C721Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111062
Gene: ENSMUSG00000025938
AA Change: C721Y

Domain	Start	End	E-Value	Type
low complexity region	80	93	N/A	INTRINSIC
Pfam:MFS_1	137	547	2.8e-28	PFAM
KAZAL	559	602	3.26e-2	SMART
transmembrane domain	737	759	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188454
AA Change: C721Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140091
Gene: ENSMUSG00000025938
AA Change: C721Y

Domain	Start	End	E-Value	Type
low complexity region	80	93	N/A	INTRINSIC
Pfam:MFS_1	137	548	4.1e-28	PFAM
KAZAL	559	602	3.26e-2	SMART
transmembrane domain	737	759	N/A	INTRINSIC

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	T	1: 105,664,576	I157F	probably benign	Het
Adgrb2	T	C	4: 130,013,626	F977S	probably damaging	Het
Ago4	A	G	4: 126,512,600	Y306H	probably benign	Het
Cblc	T	C	7: 19,792,577	T196A	probably damaging	Het
Ccdc109b	T	C	3: 129,934,663	H55R	probably benign	Het
Cfap52	T	A	11: 67,953,619		probably null	Het
Cops3	T	C	11: 59,820,018	N375S	probably benign	Het
Crb1	T	C	1: 139,243,193	T759A	probably benign	Het
Dnah3	T	C	7: 120,086,334	K153E	probably benign	Het
Elovl1	C	T	4: 118,430,748	S27F	probably damaging	Het
Erc2	A	G	14: 28,141,228	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840	C86F	probably damaging	Het
Fbn1	T	A	2: 125,394,621	R380W	probably damaging	Het
Gatad2a	C	T	8: 69,916,651	R221Q	probably damaging	Het
Gcn1l1	C	T	5: 115,589,115	P677L	probably damaging	Het
Gm6020	C	T	19: 61,183,953	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,079,129	V136A	unknown	Het
Gmip	T	A	8: 69,820,972	L971H	probably damaging	Het
Gnptab	G	A	10: 88,419,127	E192K	possibly damaging	Het
Grm7	G	A	6: 111,358,607	V660I	probably benign	Het
Helz2	G	A	2: 181,234,289	P1471S	probably damaging	Het
Herc1	G	A	9: 66,479,461	G3786S	probably damaging	Het
Isg20	T	C	7: 78,919,899	V206A	probably benign	Het
Jund	T	A	8: 70,699,821	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,425,341	I263F	probably damaging	Het
Kif2c	A	T	4: 117,162,223	L561Q	probably benign	Het
Klhl3	T	C	13: 58,009,375	D546G	probably damaging	Het
Klk1b4	A	T	7: 44,209,630	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,787,961	C225S	probably damaging	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Med18	G	A	4: 132,459,931	R86*	probably null	Het
Mfsd2b	T	C	12: 4,869,155	E63G	probably damaging	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Myo15b	G	A	11: 115,887,073	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,414,768	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,354,671	M411L	probably benign	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Nup214	A	T	2: 31,996,380	T585S	possibly damaging	Het
Olfr1025-ps1	C	T	2: 85,918,255	T110I	probably benign	Het
Olfr807	A	T	10: 129,755,074	C125*	probably null	Het
Olfr873	T	C	9: 20,300,337	S47P	probably benign	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Pih1d1	T	A	7: 45,157,741	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,191,678	F181L	probably benign	Het
Prx	C	T	7: 27,519,110	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,808,473	V5E	probably damaging	Het
Rassf9	C	A	10: 102,544,894	R44S	possibly damaging	Het
Sde2	G	A	1: 180,860,008	S153N	probably benign	Het
Sec16b	T	A	1: 157,552,975	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,195,110	I71N	probably damaging	Het
Slx4ip	A	T	2: 137,068,118	K344N	probably benign	Het
Sorcs3	A	T	19: 48,794,274	Q1076L	probably benign	Het
Spata21	A	T	4: 141,111,381	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,728,122	P533H	probably benign	Het
Spice1	T	G	16: 44,365,626	S111A	probably damaging	Het
Tex14	T	G	11: 87,474,448	F61V	probably damaging	Het
Timp3	C	T	10: 86,345,852	R196*	probably null	Het
Tll2	A	G	19: 41,088,671		probably null	Het
Tppp	A	G	13: 74,021,207	D22G	possibly damaging	Het
Trim24	G	T	6: 37,957,078	R652L	probably damaging	Het
Uaca	T	C	9: 60,870,436	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,049,718	E146G	probably damaging	Het
Vmn1r233	T	C	17: 20,993,732	S319G	probably benign	Het
Wdr47	A	T	3: 108,623,376	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,805,336		probably null	Het
Zfp420	A	T	7: 29,874,508	H51L	probably damaging	Het

Other mutations in Slco5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02264:Slco5a1	APN	1	12871995	missense	probably benign	0.01
IGL02330:Slco5a1	APN	1	12939060	missense	probably damaging	1.00
IGL02660:Slco5a1	APN	1	12989636	missense	probably damaging	1.00
IGL02904:Slco5a1	APN	1	12921097	missense	probably damaging	0.98
IGL02972:Slco5a1	APN	1	12990155	nonsense	probably null
IGL03100:Slco5a1	APN	1	12879280	missense	possibly damaging	0.67
IGL03270:Slco5a1	APN	1	12872028	missense	probably benign
R0969:Slco5a1	UTSW	1	12989892	missense	probably damaging	1.00
R1337:Slco5a1	UTSW	1	12939142	missense	probably benign	0.01
R1434:Slco5a1	UTSW	1	12871908	missense	probably benign	0.00
R1627:Slco5a1	UTSW	1	12990383	missense	probably damaging	1.00
R1767:Slco5a1	UTSW	1	12989615	missense	probably damaging	1.00
R1893:Slco5a1	UTSW	1	12894472	missense	probably damaging	1.00
R2301:Slco5a1	UTSW	1	12879262	missense	probably damaging	0.98
R2302:Slco5a1	UTSW	1	12879262	missense	probably damaging	0.98
R2303:Slco5a1	UTSW	1	12879262	missense	probably damaging	0.98
R2304:Slco5a1	UTSW	1	12879262	missense	probably damaging	0.98
R2349:Slco5a1	UTSW	1	12921152	missense	probably damaging	1.00
R2351:Slco5a1	UTSW	1	12989934	missense	probably benign	0.05
R3079:Slco5a1	UTSW	1	12879262	missense	probably damaging	0.98
R3949:Slco5a1	UTSW	1	12989609	missense	probably damaging	1.00
R4197:Slco5a1	UTSW	1	12894516	missense	probably damaging	1.00
R4380:Slco5a1	UTSW	1	12939168	missense	probably damaging	0.96
R4532:Slco5a1	UTSW	1	12879223	missense	probably damaging	1.00
R4750:Slco5a1	UTSW	1	12879280	missense	probably damaging	1.00
R5891:Slco5a1	UTSW	1	12990402	missense	probably benign	0.04
R6024:Slco5a1	UTSW	1	12944070	missense	probably damaging	1.00
R6332:Slco5a1	UTSW	1	12921185	missense	probably benign	0.27
R6492:Slco5a1	UTSW	1	12989927	missense	probably damaging	1.00
R6860:Slco5a1	UTSW	1	12881196	intron	probably benign
R6994:Slco5a1	UTSW	1	12881393	missense	probably damaging	1.00
R7121:Slco5a1	UTSW	1	12990437	missense	probably benign	0.00
R7747:Slco5a1	UTSW	1	12990122	missense	probably benign	0.05
R7802:Slco5a1	UTSW	1	12990476	missense	possibly damaging	0.76
R7895:Slco5a1	UTSW	1	12989703	missense	possibly damaging	0.52
R7984:Slco5a1	UTSW	1	12881384	missense	probably damaging	1.00
R8172:Slco5a1	UTSW	1	12990266	nonsense	probably null
R8536:Slco5a1	UTSW	1	12881301	missense	possibly damaging	0.69
RF010:Slco5a1	UTSW	1	12871947	missense	probably damaging	1.00
X0065:Slco5a1	UTSW	1	12872212	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTAGTCCGGGAGTACTTCTC -3'
(R):5'- CATTTTCTCTGCATTGACAGGC -3'

Sequencing Primer
(F):5'- ACTCACAGTGCTCAGTGGGAATTC -3'
(R):5'- GGCAGCCTGCTCATTACAAATGTG -3'

Posted On

2014-06-30