Mutagenetix > Incidental Mutation

Incidental Mutation 'R4750:Slco5a1'

357453

Institutional Source

Beutler Lab

Gene Symbol

Slco5a1

Ensembl Gene

ENSMUSG00000025938

Gene Name

solute carrier organic anion transporter family, member 5A1

Synonyms

A630033C23Rik

MMRRC Submission

042031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12866549-12992650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12879280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 629 (T629P)

Ref Sequence

ENSEMBL: ENSMUSP00000111061 (fasta)

Gene Model

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

AlphaFold

E9PVD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000115402
AA Change: T629P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111061
Gene: ENSMUSG00000025938
AA Change: T629P

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 benign
Transcript: ENSMUST00000115403
AA Change: T629P

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111062
Gene: ENSMUSG00000025938
AA Change: T629P

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

noncoding transcript
Transcript: ENSMUST00000133201

Predicted Effect

probably benign
Transcript: ENSMUST00000136197

SMART Domains

Protein: ENSMUSP00000139533
Gene: ENSMUSG00000025938

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 benign
Transcript: ENSMUST00000146763

SMART Domains

Protein: ENSMUSP00000139586
Gene: ENSMUSG00000025938

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 benign
Transcript: ENSMUST00000147606

SMART Domains

Protein: ENSMUSP00000140658
Gene: ENSMUSG00000025938

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 benign
Transcript: ENSMUST00000188454
AA Change: T629P

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140091
Gene: ENSMUSG00000025938
AA Change: T629P

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

Meta Mutation Damage Score

0.5128

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008P14Rik	C	T	2: 32,379,413		probably null	Het
1700074P13Rik	A	G	6: 40,921,021	W243R	probably damaging	Het
2510039O18Rik	T	A	4: 147,941,488	L155Q	probably damaging	Het
Aadac	T	C	3: 60,035,817	F48L	probably benign	Het
Aadat	T	A	8: 60,526,600	N165K	probably benign	Het
Acan	C	A	7: 79,092,718	D557E	probably damaging	Het
Adamts4	T	A	1: 171,251,066	V85D	probably benign	Het
Agt	A	G	8: 124,556,937	V481A	probably benign	Het
Angpt1	T	C	15: 42,676,401	N21D	probably benign	Het
Ankrd52	A	C	10: 128,378,089	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,104,365	Q247K	probably damaging	Het
Apaf1	T	C	10: 91,060,188	R341G	probably damaging	Het
Arf2	T	C	11: 103,979,759		probably null	Het
Arhgef1	A	G	7: 24,918,576		probably benign	Het
Bbox1	T	A	2: 110,265,521	Y366F	possibly damaging	Het
Bmp3	A	G	5: 98,872,558	E280G	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	T	A	15: 21,583,808	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,476,199	S282P	probably damaging	Het
Cfap46	A	G	7: 139,679,323		probably null	Het
Cfhr3	T	A	1: 139,584,828		noncoding transcript	Het
Ctrc	T	A	4: 141,841,523	Y123F	probably benign	Het
Enpp4	A	G	17: 44,102,355	M96T	probably damaging	Het
Exosc10	T	A	4: 148,562,394	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,000,468	R486H	probably benign	Het
Foxj3	C	A	4: 119,616,590	A204E	probably damaging	Het
Gas6	T	G	8: 13,476,227	D237A	probably benign	Het
Gimap8	A	G	6: 48,650,427	S112G	probably benign	Het
Gm4787	T	C	12: 81,378,367	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,182,363		noncoding transcript	Het
Gramd3	A	G	18: 56,432,300	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,167,496	D169E	probably benign	Het
Isl2	T	A	9: 55,544,312	V162D	probably benign	Het
Kcns3	T	A	12: 11,091,654	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,626	P1318S	probably benign	Het
Kif12	T	A	4: 63,167,783	Q415L	probably damaging	Het
Lama3	T	A	18: 12,504,359	H45Q	probably benign	Het
Lonp2	A	T	8: 86,631,502	K117M	probably benign	Het
Loxl4	T	A	19: 42,605,004	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,735,564	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,455,480	I3187L	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Mecom	T	G	3: 29,957,530	K865Q	probably damaging	Het
Myh10	T	C	11: 68,785,314	I790T	probably damaging	Het
Nek7	C	T	1: 138,498,673	S234N	probably damaging	Het
Nepro	T	C	16: 44,730,182	L179P	probably damaging	Het
Nexn	A	G	3: 152,237,722	C649R	probably damaging	Het
Nsmf	T	C	2: 25,055,026	S34P	probably damaging	Het
Olfr1140	C	T	2: 87,746,508	T104I	probably benign	Het
Olfr1339	T	A	4: 118,734,733	V68D	possibly damaging	Het
Olfr1350	A	G	7: 6,570,851	I287V	probably benign	Het
Olfr1364	A	G	13: 21,573,743	S238P	possibly damaging	Het
Olfr354	T	A	2: 36,907,716	S257T	probably benign	Het
Olfr406	T	A	11: 74,269,420	F10L	probably benign	Het
Olfr417	A	G	1: 174,368,922	I2V	probably benign	Het
Olfr685	A	T	7: 105,180,926	I144N	probably damaging	Het
Olfr702	A	G	7: 106,824,307	F73S	probably damaging	Het
P2rx5	G	T	11: 73,164,877	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,506,131	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,211,417	H32R	unknown	Het
Pkhd1	T	A	1: 20,524,112	D1259V	possibly damaging	Het
Plekha7	A	T	7: 116,137,311	V889E	probably damaging	Het
Polr2b	A	C	5: 77,332,039	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,549,328	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,531,520	D710E	probably benign	Het
Prdm4	A	G	10: 85,899,221	F679L	probably damaging	Het
Prkcd	A	G	14: 30,610,301	M1T	probably null	Het
Rcor3	A	G	1: 192,130,449	Y77H	unknown	Het
Rdh5	T	C	10: 128,918,366	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,982,931	M396V	probably benign	Het
Smarca5	A	C	8: 80,733,707	N133K	probably benign	Het
Spag5	T	C	11: 78,320,052	M927T	probably benign	Het
Spint4	A	T	2: 164,700,146	D39V	probably damaging	Het
Syt6	T	A	3: 103,630,917	*512R	probably null	Het
Tmem247	T	C	17: 86,922,342	C204R	probably damaging	Het
Tmem72	A	G	6: 116,695,434	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,876,064	V1816A	probably damaging	Het
Usp35	A	G	7: 97,310,339	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,591,052	S1075P	probably damaging	Het
Wdr34	T	C	2: 30,033,920	T198A	probably benign	Het
Xylb	G	T	9: 119,359,313	G62*	probably null	Het
Zfp142	T	C	1: 74,572,458	E623G	probably damaging	Het
Zfp239	A	G	6: 117,871,739	Y146C	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
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
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
R9052:Slco5a1	UTSW	1	12990173	missense	possibly damaging	0.62
R9208:Slco5a1	UTSW	1	12989578	critical splice donor site	probably null
R9579:Slco5a1	UTSW	1	12879159	nonsense	probably null
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'- TGCAATAGGCTCTCTCAAGC -3'
(R):5'- ACCCATTAGTGCTGTTACCAAAG -3'

Sequencing Primer
(F):5'- ATAGGCTCTCTCAAGCACTGC -3'
(R):5'- AGTGCTGTTACCAAAGTATTTTGTG -3'

Posted On

2015-11-11