Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Slco1a5'

366592

Institutional Source

Beutler Lab

Gene Symbol

Slco1a5

Ensembl Gene

ENSMUSG00000063975

Gene Name

solute carrier organic anion transporter family, member 1a5

Synonyms

Slc21a7, Oatp3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142179953-142268707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142194533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 370 (Y370C)

Ref Sequence

ENSEMBL: ENSMUSP00000137607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081380] [ENSMUST00000111825] [ENSMUST00000153268]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081380
AA Change: Y370C

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: Y370C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	420	4.3e-30	PFAM
KAZAL	438	486	2.18e0	SMART
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000111822

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111825
AA Change: Y370C

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: Y370C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	420	5.8e-30	PFAM
KAZAL	438	486	2.18e0	SMART
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153268

SMART Domains

Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975

Domain	Start	End	E-Value	Type
Pfam:OATP	19	74	3.4e-16	PFAM

Meta Mutation Damage Score

0.2114

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,278,096 (GRCm39)	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Abtb2	A	T	2: 103,547,644 (GRCm39)	D1006V	probably benign	Het
Abtb3	A	C	10: 85,490,414 (GRCm39)	I1027L	probably damaging	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ahnak	A	G	19: 8,989,863 (GRCm39)		probably benign	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Amotl2	T	G	9: 102,597,322 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,574,813 (GRCm39)	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,557,420 (GRCm39)		probably null	Het
Appl2	A	T	10: 83,436,855 (GRCm39)	D635E	probably damaging	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,440,843 (GRCm39)	M496T	probably benign	Het
Atp2c2	A	G	8: 120,475,891 (GRCm39)	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,295,238 (GRCm39)	H204R	probably damaging	Het
Atr	G	A	9: 95,744,850 (GRCm39)	V56I	probably benign	Het
Bod1l	G	A	5: 41,991,006 (GRCm39)	T183I	probably benign	Het
Ccdc168	T	C	1: 44,098,203 (GRCm39)	D965G	possibly damaging	Het
Ccdc171	A	T	4: 83,599,253 (GRCm39)	E689D	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cert1	T	C	13: 96,748,773 (GRCm39)	V281A	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,673,774 (GRCm39)	T981S	unknown	Het
Cpox	G	A	16: 58,492,986 (GRCm39)	A207T	probably damaging	Het
Cym	G	A	3: 107,123,413 (GRCm39)	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddx4	C	T	13: 112,750,230 (GRCm39)		probably null	Het
Ddx4	A	T	13: 112,787,894 (GRCm39)	V15E	probably benign	Het
Depdc1a	G	A	3: 159,232,273 (GRCm39)	E675K	probably damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Dlg4	C	T	11: 69,917,780 (GRCm39)	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,996,059 (GRCm39)	N395I	probably damaging	Het
Dzank1	A	T	2: 144,346,319 (GRCm39)	C249S	probably damaging	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,982,552 (GRCm39)	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,020,423 (GRCm39)	M584K	unknown	Het
Fam193b	A	G	13: 55,691,284 (GRCm39)	S197P	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbxo31	A	T	8: 122,279,178 (GRCm39)	Y436*	probably null	Het
Fbxo31	A	G	8: 122,279,180 (GRCm39)	Y436H	probably damaging	Het
Fcna	T	A	2: 25,515,338 (GRCm39)	D215V	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gcnt4	A	T	13: 97,083,914 (GRCm39)	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,653,870 (GRCm39)	T126A	probably benign	Het
Ggcx	A	G	6: 72,405,875 (GRCm39)	K569E	probably benign	Het
Gm10250	C	T	15: 5,150,578 (GRCm39)		probably benign	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Ifi44	G	A	3: 151,451,229 (GRCm39)	P241S	probably damaging	Het
Irs1	T	C	1: 82,265,184 (GRCm39)	T1011A	probably benign	Het
Jag2	A	T	12: 112,877,869 (GRCm39)	S595T	probably benign	Het
Kif5a	T	A	10: 127,066,823 (GRCm39)	Q960L	probably benign	Het
Kifc2	A	G	15: 76,548,548 (GRCm39)	E430G	possibly damaging	Het
Lama3	T	A	18: 12,544,627 (GRCm39)	C323*	probably null	Het
Lgsn	T	C	1: 31,242,823 (GRCm39)	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrpap1	A	G	5: 35,256,622 (GRCm39)	V120A	probably damaging	Het
Macrod2	T	A	2: 140,261,858 (GRCm39)	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,822,283 (GRCm39)	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,792,293 (GRCm39)		probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Ngb	G	A	12: 87,146,999 (GRCm39)	H73Y	probably benign	Het
Npepps	G	A	11: 97,117,652 (GRCm39)	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,199,923 (GRCm39)	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,041,137 (GRCm39)	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,155,368 (GRCm39)		probably null	Het
Or1e31	C	T	11: 73,689,665 (GRCm39)	C306Y	probably benign	Het
Or2y16	T	A	11: 49,334,696 (GRCm39)	F6Y	probably benign	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or51h1	T	A	7: 102,308,041 (GRCm39)	N4K	possibly damaging	Het
Or5an1c	C	T	19: 12,218,936 (GRCm39)	V30I	probably benign	Het
Or8b46	A	G	9: 38,450,371 (GRCm39)	Y60C	probably damaging	Het
Parp6	A	G	9: 59,542,267 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,411 (GRCm39)	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,133,757 (GRCm39)	E548G	probably damaging	Het
Polrmt	G	T	10: 79,575,357 (GRCm39)	H725N	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Prtn3	C	A	10: 79,717,899 (GRCm39)	P169H	probably damaging	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprh	A	T	7: 4,572,576 (GRCm39)	H467Q	probably benign	Het
Raph1	A	T	1: 60,528,273 (GRCm39)	I996N	probably damaging	Het
Rasa4	G	A	5: 136,120,083 (GRCm39)	W53*	probably null	Het
Rasgrp1	C	T	2: 117,115,356 (GRCm39)	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,390,333 (GRCm39)	E141G	probably damaging	Het
Rps12	T	C	10: 23,662,688 (GRCm39)	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,451,976 (GRCm39)	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Setx	G	A	2: 29,034,058 (GRCm39)	R332Q	probably damaging	Het
Siglec1	A	C	2: 130,917,843 (GRCm39)	S1011R	probably damaging	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Slc11a1	T	G	1: 74,423,247 (GRCm39)	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Slc30a1	A	C	1: 191,641,160 (GRCm39)	K269Q	probably benign	Het
Slf2	T	A	19: 44,923,364 (GRCm39)		probably null	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spta1	A	T	1: 174,058,232 (GRCm39)	Q1900L	probably benign	Het
Srgn	C	T	10: 62,333,631 (GRCm39)	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,353,411 (GRCm39)	C238G	probably damaging	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Thra	G	A	11: 98,646,990 (GRCm39)	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845 (GRCm39)	D246G	probably damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Usp10	A	G	8: 120,667,930 (GRCm39)	Y77C	probably benign	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,740,867 (GRCm39)	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,369,370 (GRCm39)	I68V	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Wsb1	A	G	11: 79,131,199 (GRCm39)	M399T	probably benign	Het
Xbp1	C	T	11: 5,471,167 (GRCm39)	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,032,929 (GRCm39)	D577E	probably benign	Het
Zfp366	A	G	13: 99,382,991 (GRCm39)	D718G	probably damaging	Het
Zfp408	A	T	2: 91,475,369 (GRCm39)	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,934,322 (GRCm39)	W60R	probably null	Het
Zfp606	A	T	7: 12,227,932 (GRCm39)	K626N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het

Other mutations in Slco1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Slco1a5	APN	6	142,187,876 (GRCm39)	missense	probably benign	0.00
IGL01432:Slco1a5	APN	6	142,182,012 (GRCm39)	missense	possibly damaging	0.59
IGL01590:Slco1a5	APN	6	142,196,045 (GRCm39)	missense	probably benign	0.01
IGL01824:Slco1a5	APN	6	142,198,763 (GRCm39)	missense	probably benign	0.01
IGL01915:Slco1a5	APN	6	142,189,599 (GRCm39)	missense	probably benign	0.00
IGL01945:Slco1a5	APN	6	142,189,715 (GRCm39)	critical splice acceptor site	probably null
IGL02078:Slco1a5	APN	6	142,200,172 (GRCm39)	missense	probably benign	0.30
IGL02178:Slco1a5	APN	6	142,208,414 (GRCm39)	nonsense	probably null
IGL02366:Slco1a5	APN	6	142,195,941 (GRCm39)	missense	possibly damaging	0.57
IGL02395:Slco1a5	APN	6	142,221,213 (GRCm39)	missense	probably damaging	0.99
IGL02621:Slco1a5	APN	6	142,187,741 (GRCm39)	missense	probably benign	0.10
IGL02752:Slco1a5	APN	6	142,208,438 (GRCm39)	missense	probably benign	0.07
IGL02940:Slco1a5	APN	6	142,187,731 (GRCm39)	missense	probably damaging	1.00
IGL03065:Slco1a5	APN	6	142,194,569 (GRCm39)	splice site	probably benign
IGL03377:Slco1a5	APN	6	142,180,492 (GRCm39)	missense	probably benign	0.01
R0017:Slco1a5	UTSW	6	142,182,061 (GRCm39)	splice site	probably benign
R0017:Slco1a5	UTSW	6	142,182,061 (GRCm39)	splice site	probably benign
R0230:Slco1a5	UTSW	6	142,182,054 (GRCm39)	splice site	probably benign
R0690:Slco1a5	UTSW	6	142,214,004 (GRCm39)	missense	probably benign	0.24
R1217:Slco1a5	UTSW	6	142,200,100 (GRCm39)	missense	probably damaging	0.98
R1900:Slco1a5	UTSW	6	142,187,789 (GRCm39)	missense	probably benign	0.44
R2084:Slco1a5	UTSW	6	142,180,437 (GRCm39)	missense	probably benign	0.32
R2393:Slco1a5	UTSW	6	142,194,501 (GRCm39)	missense	possibly damaging	0.85
R2414:Slco1a5	UTSW	6	142,181,976 (GRCm39)	missense	probably damaging	1.00
R2760:Slco1a5	UTSW	6	142,195,997 (GRCm39)	missense	probably benign	0.00
R3420:Slco1a5	UTSW	6	142,213,964 (GRCm39)	missense	possibly damaging	0.61
R3421:Slco1a5	UTSW	6	142,213,964 (GRCm39)	missense	possibly damaging	0.61
R3827:Slco1a5	UTSW	6	142,198,975 (GRCm39)	missense	probably damaging	0.97
R3963:Slco1a5	UTSW	6	142,194,370 (GRCm39)	critical splice donor site	probably null
R3977:Slco1a5	UTSW	6	142,204,698 (GRCm39)	splice site	probably benign
R4074:Slco1a5	UTSW	6	142,213,950 (GRCm39)	missense	possibly damaging	0.88
R4075:Slco1a5	UTSW	6	142,213,950 (GRCm39)	missense	possibly damaging	0.88
R4076:Slco1a5	UTSW	6	142,213,950 (GRCm39)	missense	possibly damaging	0.88
R4799:Slco1a5	UTSW	6	142,194,533 (GRCm39)	missense	possibly damaging	0.82
R4831:Slco1a5	UTSW	6	142,180,431 (GRCm39)	missense	probably benign
R5038:Slco1a5	UTSW	6	142,212,090 (GRCm39)	missense	probably damaging	1.00
R5038:Slco1a5	UTSW	6	142,208,363 (GRCm39)	missense	probably benign	0.01
R5063:Slco1a5	UTSW	6	142,204,791 (GRCm39)	missense	probably damaging	1.00
R5273:Slco1a5	UTSW	6	142,187,824 (GRCm39)	missense	probably benign	0.00
R5436:Slco1a5	UTSW	6	142,200,118 (GRCm39)	missense	probably damaging	1.00
R5579:Slco1a5	UTSW	6	142,187,851 (GRCm39)	missense	possibly damaging	0.93
R5602:Slco1a5	UTSW	6	142,221,255 (GRCm39)	start gained	probably benign
R5643:Slco1a5	UTSW	6	142,183,320 (GRCm39)	splice site	probably null
R5644:Slco1a5	UTSW	6	142,183,320 (GRCm39)	splice site	probably null
R5686:Slco1a5	UTSW	6	142,182,033 (GRCm39)	missense	probably damaging	1.00
R5699:Slco1a5	UTSW	6	142,194,542 (GRCm39)	missense	probably damaging	0.96
R5792:Slco1a5	UTSW	6	142,187,839 (GRCm39)	missense	probably damaging	1.00
R5938:Slco1a5	UTSW	6	142,194,443 (GRCm39)	missense	probably damaging	0.97
R5997:Slco1a5	UTSW	6	142,198,839 (GRCm39)	missense	probably benign	0.19
R6146:Slco1a5	UTSW	6	142,180,534 (GRCm39)	missense	probably benign
R6377:Slco1a5	UTSW	6	142,187,906 (GRCm39)	splice site	probably null
R6466:Slco1a5	UTSW	6	142,183,260 (GRCm39)	missense	probably benign	0.01
R6523:Slco1a5	UTSW	6	142,212,121 (GRCm39)	missense	probably damaging	1.00
R7092:Slco1a5	UTSW	6	142,194,401 (GRCm39)	missense	probably benign
R7207:Slco1a5	UTSW	6	142,194,475 (GRCm39)	nonsense	probably null
R7356:Slco1a5	UTSW	6	142,180,458 (GRCm39)	missense	probably benign	0.01
R7430:Slco1a5	UTSW	6	142,194,438 (GRCm39)	missense	probably benign	0.00
R7445:Slco1a5	UTSW	6	142,204,734 (GRCm39)	missense	possibly damaging	0.93
R7499:Slco1a5	UTSW	6	142,208,257 (GRCm39)	splice site	probably null
R7579:Slco1a5	UTSW	6	142,221,207 (GRCm39)	missense	probably benign	0.00
R8117:Slco1a5	UTSW	6	142,208,418 (GRCm39)	missense	probably damaging	1.00
R8209:Slco1a5	UTSW	6	142,208,408 (GRCm39)	missense	probably damaging	1.00
R8217:Slco1a5	UTSW	6	142,221,202 (GRCm39)	missense	probably benign	0.13
R8358:Slco1a5	UTSW	6	142,208,411 (GRCm39)	missense	probably benign	0.45
R8710:Slco1a5	UTSW	6	142,198,828 (GRCm39)	missense	probably benign	0.03
R9071:Slco1a5	UTSW	6	142,196,052 (GRCm39)	missense	possibly damaging	0.50
R9316:Slco1a5	UTSW	6	142,195,935 (GRCm39)	missense	probably damaging	0.99
R9427:Slco1a5	UTSW	6	142,214,001 (GRCm39)	missense	probably damaging	0.98
R9619:Slco1a5	UTSW	6	142,198,846 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TAATCCCTGGAGAAAATGGACTAG -3'
(R):5'- CCTCTTTGTATATAATAGGCAAGCG -3'

Sequencing Primer
(F):5'- CCCTGGAGAAAATGGACTAGCAATTG -3'
(R):5'- GCGAGTAGGATTTAAAATCATTTGC -3'

Posted On

2015-12-29