Mutagenetix > Incidental Mutation

Incidental Mutation 'RF010:Slco5a1'

603107

Institutional Source

Beutler Lab

Gene Symbol

Slco5a1

Ensembl Gene

ENSMUSG00000025938

Gene Name

solute carrier organic anion transporter family, member 5A1

Synonyms

A630033C23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

RF010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12936773-13062874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12942171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 825 (T825I)

Ref Sequence

ENSEMBL: ENSMUSP00000111062 (fasta)

Gene Model

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

AlphaFold

E9PVD9

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: T825I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111062
Gene: ENSMUSG00000025938
AA Change: T825I

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: T825I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140091
Gene: ENSMUSG00000025938
AA Change: T825I

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,879,473 (GRCm39)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Ankrd28	A	G	14: 31,500,943 (GRCm39)	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 21,433,927 (GRCm39)		probably null	Het
Bend3	T	A	10: 43,386,180 (GRCm39)	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,662 (GRCm39)		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 96,030,278 (GRCm39)		probably null	Het
Cnot3	T	C	7: 3,659,068 (GRCm39)	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,593,790 (GRCm39)	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,478,422 (GRCm39)	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,981,149 (GRCm39)		probably null	Het
Fmn2	T	A	1: 174,409,581 (GRCm39)	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,666 (GRCm39)		probably benign	Het
Gli3	A	G	13: 15,900,954 (GRCm39)	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,952,891 (GRCm39)	V297A	probably benign	Het
Ifi213	C	G	1: 173,409,719 (GRCm39)	D462H	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 92,925,597 (GRCm39)		probably benign	Het
Lpo	A	G	11: 87,711,928 (GRCm39)	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,136,799 (GRCm39)		probably benign	Het
Mapk9	A	G	11: 49,745,083 (GRCm39)		probably benign	Het
Mep1a	G	A	17: 43,797,126 (GRCm39)	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myh3	AC	ACTTCC	11: 66,977,185 (GRCm39)		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,458,065 (GRCm39)		probably benign	Het
Or10ag56	T	A	2: 87,139,184 (GRCm39)	V37E	possibly damaging	Het
Or14a259	T	C	7: 86,012,594 (GRCm39)	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,101,890 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,027,674 (GRCm39)	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,325,920 (GRCm39)		probably null	Het
Polr1has	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 37,275,955 (GRCm39)		probably benign	Het
Prkce	T	C	17: 86,795,627 (GRCm39)	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,434,183 (GRCm39)	S93P	probably damaging	Het
Rfc4	T	C	16: 22,946,232 (GRCm39)	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,694,351 (GRCm39)		probably benign	Het
Ryr3	G	T	2: 112,606,015 (GRCm39)	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 24,164,325 (GRCm39)		probably benign	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Sec63	C	A	10: 42,682,620 (GRCm39)	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,783 (GRCm39)		probably benign	Het
Spmap2l	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,164,274 (GRCm39)		probably benign	Het
Stard8	GGA	GGAAGA	X: 98,110,123 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,711,927 (GRCm39)	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Syne1	T	A	10: 5,196,386 (GRCm39)	D3882V	possibly damaging	Het
T	A	G	17: 8,660,540 (GRCm39)	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,825,384 (GRCm39)		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,968,816 (GRCm39)		probably benign	Het
Tcstv5	A	T	13: 120,411,582 (GRCm39)	V8E	probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,032 (GRCm39)		probably benign	Het
Thumpd3	C	T	6: 113,033,006 (GRCm39)	A248V	probably damaging	Het
Tlcd4	T	A	3: 121,022,533 (GRCm39)	I103L	probably benign	Het
Tmem181a	T	C	17: 6,330,978 (GRCm39)		probably null	Het
Trim41	A	T	11: 48,698,165 (GRCm39)	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,620,820 (GRCm39)	C147*	probably null	Het
Ttll2	C	T	17: 7,618,737 (GRCm39)	A397T	probably benign	Het
Unc79	T	A	12: 103,079,046 (GRCm39)	L1737Q	probably benign	Het
Usp47	T	A	7: 111,692,145 (GRCm39)	V869E	probably damaging	Het
Vmn1r231	T	A	17: 21,110,255 (GRCm39)	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,016,448 (GRCm39)	T304I	possibly damaging	Het
Wrn	T	C	8: 33,778,793 (GRCm39)	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,013,451 (GRCm39)		probably benign	Het
Zfyve26	C	T	12: 79,302,112 (GRCm39)	C1828Y	probably damaging	Het

Other mutations in Slco5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02264:Slco5a1	APN	1	12,942,219 (GRCm39)	missense	probably benign	0.01
IGL02330:Slco5a1	APN	1	13,009,284 (GRCm39)	missense	probably damaging	1.00
IGL02660:Slco5a1	APN	1	13,059,860 (GRCm39)	missense	probably damaging	1.00
IGL02904:Slco5a1	APN	1	12,991,321 (GRCm39)	missense	probably damaging	0.98
IGL02972:Slco5a1	APN	1	13,060,379 (GRCm39)	nonsense	probably null
IGL03100:Slco5a1	APN	1	12,949,504 (GRCm39)	missense	possibly damaging	0.67
IGL03270:Slco5a1	APN	1	12,942,252 (GRCm39)	missense	probably benign
R0969:Slco5a1	UTSW	1	13,060,116 (GRCm39)	missense	probably damaging	1.00
R1337:Slco5a1	UTSW	1	13,009,366 (GRCm39)	missense	probably benign	0.01
R1434:Slco5a1	UTSW	1	12,942,132 (GRCm39)	missense	probably benign	0.00
R1627:Slco5a1	UTSW	1	13,060,607 (GRCm39)	missense	probably damaging	1.00
R1767:Slco5a1	UTSW	1	13,059,839 (GRCm39)	missense	probably damaging	1.00
R1893:Slco5a1	UTSW	1	12,964,696 (GRCm39)	missense	probably damaging	1.00
R1894:Slco5a1	UTSW	1	12,942,483 (GRCm39)	missense	probably damaging	1.00
R2301:Slco5a1	UTSW	1	12,949,486 (GRCm39)	missense	probably damaging	0.98
R2302:Slco5a1	UTSW	1	12,949,486 (GRCm39)	missense	probably damaging	0.98
R2303:Slco5a1	UTSW	1	12,949,486 (GRCm39)	missense	probably damaging	0.98
R2304:Slco5a1	UTSW	1	12,949,486 (GRCm39)	missense	probably damaging	0.98
R2349:Slco5a1	UTSW	1	12,991,376 (GRCm39)	missense	probably damaging	1.00
R2351:Slco5a1	UTSW	1	13,060,158 (GRCm39)	missense	probably benign	0.05
R3079:Slco5a1	UTSW	1	12,949,486 (GRCm39)	missense	probably damaging	0.98
R3949:Slco5a1	UTSW	1	13,059,833 (GRCm39)	missense	probably damaging	1.00
R4197:Slco5a1	UTSW	1	12,964,740 (GRCm39)	missense	probably damaging	1.00
R4380:Slco5a1	UTSW	1	13,009,392 (GRCm39)	missense	probably damaging	0.96
R4532:Slco5a1	UTSW	1	12,949,447 (GRCm39)	missense	probably damaging	1.00
R4750:Slco5a1	UTSW	1	12,949,504 (GRCm39)	missense	probably damaging	1.00
R5891:Slco5a1	UTSW	1	13,060,626 (GRCm39)	missense	probably benign	0.04
R6024:Slco5a1	UTSW	1	13,014,294 (GRCm39)	missense	probably damaging	1.00
R6332:Slco5a1	UTSW	1	12,991,409 (GRCm39)	missense	probably benign	0.27
R6492:Slco5a1	UTSW	1	13,060,151 (GRCm39)	missense	probably damaging	1.00
R6860:Slco5a1	UTSW	1	12,951,420 (GRCm39)	intron	probably benign
R6994:Slco5a1	UTSW	1	12,951,617 (GRCm39)	missense	probably damaging	1.00
R7121:Slco5a1	UTSW	1	13,060,661 (GRCm39)	missense	probably benign	0.00
R7747:Slco5a1	UTSW	1	13,060,346 (GRCm39)	missense	probably benign	0.05
R7802:Slco5a1	UTSW	1	13,060,700 (GRCm39)	missense	possibly damaging	0.76
R7895:Slco5a1	UTSW	1	13,059,927 (GRCm39)	missense	possibly damaging	0.52
R7984:Slco5a1	UTSW	1	12,951,608 (GRCm39)	missense	probably damaging	1.00
R8172:Slco5a1	UTSW	1	13,060,490 (GRCm39)	nonsense	probably null
R8536:Slco5a1	UTSW	1	12,951,525 (GRCm39)	missense	possibly damaging	0.69
R9052:Slco5a1	UTSW	1	13,060,397 (GRCm39)	missense	possibly damaging	0.62
R9208:Slco5a1	UTSW	1	13,059,802 (GRCm39)	critical splice donor site	probably null
R9579:Slco5a1	UTSW	1	12,949,383 (GRCm39)	nonsense	probably null
X0065:Slco5a1	UTSW	1	12,942,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGGCACAGGTGTTTCTC -3'
(R):5'- GCTGGCCTCAAATTTGTTGGC -3'

Sequencing Primer
(F):5'- AAGGCACAGGTGTTTCTCAACTTG -3'
(R):5'- CTGGCCTGGTACTCTATCAAG -3'

Posted On

2019-12-04