Mutagenetix > Incidental Mutations

Incidental Mutation 'R6024:Slco5a1'

479066

Institutional Source

Beutler Lab

Gene Symbol

Slco5a1

Ensembl Gene

ENSMUSG00000025938

Gene Name

solute carrier organic anion transporter family, member 5A1

Synonyms

A630033C23Rik

MMRRC Submission

044196-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12866549-12992650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12944070 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 320 (Y320C)

Ref Sequence

ENSEMBL: ENSMUSP00000140091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115402] [ENSMUST00000115403] [ENSMUST00000136197] [ENSMUST00000146763] [ENSMUST00000147606] [ENSMUST00000188454]

Predicted Effect

probably damaging
Transcript: ENSMUST00000115402
AA Change: Y320C

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

SMART Domains

Protein: ENSMUSP00000111061
Gene: ENSMUSG00000025938
AA Change: Y320C

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: Y320C

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

SMART Domains

Protein: ENSMUSP00000111062
Gene: ENSMUSG00000025938
AA Change: Y320C

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: ENSMUST00000136197
AA Change: Y320C

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

SMART Domains

Protein: ENSMUSP00000139533
Gene: ENSMUSG00000025938
AA Change: Y320C

Domain	Start	End	E-Value	Type
low complexity region	80	93	N/A	INTRINSIC
Pfam:MFS_1	137	548	3.6e-27	PFAM
KAZAL	559	601	4.3e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000146763
AA Change: Y320C

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

SMART Domains

Protein: ENSMUSP00000139586
Gene: ENSMUSG00000025938
AA Change: Y320C

Domain	Start	End	E-Value	Type
low complexity region	80	93	N/A	INTRINSIC
Pfam:OATP	130	352	8.4e-72	PFAM
Pfam:MFS_1	137	332	1.6e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000147606
AA Change: Y320C

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

SMART Domains

Protein: ENSMUSP00000140658
Gene: ENSMUSG00000025938
AA Change: Y320C

Domain	Start	End	E-Value	Type
low complexity region	80	93	N/A	INTRINSIC
Pfam:OATP	130	478	1.5e-105	PFAM
Pfam:MFS_1	137	476	2.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188454
AA Change: Y320C

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

SMART Domains

Protein: ENSMUSP00000140091
Gene: ENSMUSG00000025938
AA Change: Y320C

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,476,505	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,558,482	I267T	probably benign	Het
Arhgef5	T	C	6: 43,275,134	S940P	probably benign	Het
Art2b	A	G	7: 101,580,380	I104T	probably benign	Het
Avpr1a	A	G	10: 122,449,148	Y115C	probably damaging	Het
Ccdc84	T	C	9: 44,417,952	T13A	possibly damaging	Het
Cdc42bpg	T	A	19: 6,317,496	L995Q	probably damaging	Het
Clip1	T	C	5: 123,615,089	K210E	possibly damaging	Het
Cog4	C	T	8: 110,881,480	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,238,699	S206L	probably damaging	Het
Csf3r	C	A	4: 126,037,517		probably null	Het
Dnah11	G	T	12: 118,030,272	S2346R	probably benign	Het
Dnaic2	A	T	11: 114,752,908	I467F	possibly damaging	Het
Doxl2	A	T	6: 48,976,096	K318N	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876	M523K	probably damaging	Het
Ebf3	T	C	7: 137,200,535	D407G	probably damaging	Het
Fbn2	A	G	18: 58,076,836	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,300	T345A	probably benign	Het
Gm1527	C	T	3: 28,920,603	H522Y	probably benign	Het
Gm340	C	A	19: 41,583,957	P384T	possibly damaging	Het
Gm4846	T	A	1: 166,490,127	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,955,615	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,620,038	S59R	probably benign	Het
Itga6	A	G	2: 71,787,233	N32S	probably benign	Het
Macc1	T	C	12: 119,450,425	S779P	probably benign	Het
Mctp1	G	T	13: 76,385,161	L209F	probably damaging	Het
Mink1	A	G	11: 70,599,089	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,908,151	V336E	probably benign	Het
Muc16	A	T	9: 18,646,671	S2775R	unknown	Het
Muc6	T	A	7: 141,641,574	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,277,703	N65I	probably damaging	Het
Myo9a	A	G	9: 59,855,388	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,951,285	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,184,041	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,590,098	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,767,744	L453F	probably damaging	Het
Pcnt	T	C	10: 76,420,037	S790G	possibly damaging	Het
Phf3	T	C	1: 30,863,226	D2G	probably damaging	Het
Phrf1	T	C	7: 141,258,985		probably benign	Het
Ptpn3	C	A	4: 57,248,653		probably null	Het
Pygl	T	C	12: 70,197,067	T625A	probably benign	Het
R3hdm2	T	A	10: 127,459,480	F239I	probably damaging	Het
Sesn1	A	T	10: 41,896,200	I242F	probably damaging	Het
Shank2	C	T	7: 144,180,031	T105I	probably benign	Het
Skint3	T	C	4: 112,290,346	F350S	possibly damaging	Het
Syt11	A	G	3: 88,762,109	S159P	probably benign	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,923,672	S1981P	probably damaging	Het
Tmem200c	A	C	17: 68,841,727	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,833,009	V1125A	probably damaging	Het
Ttn	A	G	2: 76,814,143	V4762A	possibly damaging	Het
Unc5d	A	G	8: 28,875,511	S149P	possibly damaging	Het
Usf3	A	T	16: 44,219,840	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,501,298		probably benign	Het
Wdr49	T	G	3: 75,301,826	E612D	probably benign	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
R1894:Slco5a1	UTSW	1	12872259	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
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
R7978:Slco5a1	UTSW	1	12989703	missense	possibly damaging	0.52
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'- AATGCCTAGCTAGCTACCTTCC -3'
(R):5'- TGACTCTCATGCAGAAACAAGAG -3'

Sequencing Primer
(F):5'- AGCTAGCTACCTTCCCCCTTTTTG -3'
(R):5'- ACAAGAGGGGCCACTGC -3'

Posted On

2017-06-26