Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Slco4a1'

543358

Institutional Source

Beutler Lab

Gene Symbol

Slco4a1

Ensembl Gene

ENSMUSG00000038963

Gene Name

solute carrier organic anion transporter family, member 4a1

Synonyms

OATP-E, Slc21a12

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6969 (G1)

Quality Score

193.009

Status

Not validated

Chromosome

Chromosomal Location

180098038-180116660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180106601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 261 (S261N)

Ref Sequence

ENSEMBL: ENSMUSP00000046502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038225] [ENSMUST00000038259]

AlphaFold

Q8K078

Predicted Effect

probably benign
Transcript: ENSMUST00000038225
AA Change: S261N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: S261N

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:OATP	103	665	5.7e-168	PFAM
Pfam:MFS_1	105	496	3e-15	PFAM
Pfam:Kazal_2	512	555	1.1e-7	PFAM
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038259
AA Change: S261N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: S261N

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:OATP	101	666	2.8e-172	PFAM
Pfam:MFS_1	105	496	2.5e-15	PFAM
Pfam:Kazal_2	512	555	7.7e-8	PFAM
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,958,317 (GRCm39)	L800H	unknown	Het
Ap2b1	T	A	11: 83,280,552 (GRCm39)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arhgap9	G	A	10: 127,162,512 (GRCm39)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,782,756 (GRCm39)	F19I	probably benign	Het
Bdp1	A	T	13: 100,211,039 (GRCm39)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,586,230 (GRCm39)	*427Q	probably null	Het
Chd9	A	C	8: 91,705,542 (GRCm39)	Q260P	probably benign	Het
Col16a1	A	T	4: 129,986,880 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 17,266,805 (GRCm39)	N40K	possibly damaging	Het
Depdc5	T	G	5: 33,141,204 (GRCm39)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,397,398 (GRCm39)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,076,141 (GRCm39)	Q691R	probably damaging	Het
Dusp10	T	C	1: 183,801,085 (GRCm39)	L284P	probably damaging	Het
Efr3b	A	G	12: 4,018,624 (GRCm39)	V574A	probably benign	Het
Erc2	A	T	14: 27,620,553 (GRCm39)	I60F	probably damaging	Het
Exoc2	A	G	13: 31,095,161 (GRCm39)	V245A	probably benign	Het
Fasl	G	T	1: 161,609,244 (GRCm39)	F37L	probably damaging	Het
Fat3	G	A	9: 15,941,212 (GRCm39)	P1360S	probably benign	Het
Gpsm1	C	T	2: 26,230,555 (GRCm39)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,605,331 (GRCm39)	G124V	probably damaging	Het
Insm2	T	C	12: 55,646,963 (GRCm39)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,929,468 (GRCm39)	Y402H	possibly damaging	Het
Irx6	A	G	8: 93,403,958 (GRCm39)	E175G	probably damaging	Het
Kcnh8	C	T	17: 53,184,971 (GRCm39)	R418*	probably null	Het
Kif3c	G	A	12: 3,416,114 (GRCm39)	R45Q	probably benign	Het
Larp7-ps	A	G	4: 92,079,826 (GRCm39)	I54T	probably damaging	Het
Lpin1	A	G	12: 16,630,862 (GRCm39)	F12S	probably damaging	Het
Lrba	A	T	3: 86,526,897 (GRCm39)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,527,610 (GRCm39)	N200K	probably benign	Het
Lrrc7	G	A	3: 157,862,550 (GRCm39)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,212,578 (GRCm39)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,351,593 (GRCm39)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,148,362 (GRCm39)	A15P	probably damaging	Het
Myh2	T	C	11: 67,088,092 (GRCm39)	F1903L	probably benign	Het
Myom3	T	C	4: 135,528,371 (GRCm39)	L1072P	probably damaging	Het
Or13l2	A	T	3: 97,318,118 (GRCm39)	Y126*	probably null	Het
Or56a41	T	C	7: 104,740,463 (GRCm39)	I128V	probably benign	Het
Or5bw2	G	A	7: 6,573,320 (GRCm39)	C110Y	probably damaging	Het
Or7g35	A	T	9: 19,495,886 (GRCm39)	T18S	possibly damaging	Het
Patl2	A	T	2: 121,959,410 (GRCm39)	V18D	possibly damaging	Het
Pkn1	T	C	8: 84,410,055 (GRCm39)	S395G	probably damaging	Het
Ptprm	A	G	17: 67,219,413 (GRCm39)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 184,968,209 (GRCm39)	L187P	probably damaging	Het
Ric1	A	T	19: 29,563,182 (GRCm39)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,827,657 (GRCm39)	K598R	probably benign	Het
Rnf40	A	G	7: 127,195,495 (GRCm39)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,452,616 (GRCm39)	T544A	probably benign	Het
Scaf1	C	A	7: 44,657,253 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,591,643 (GRCm39)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,695,153 (GRCm39)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,546,275 (GRCm39)	V383F	probably damaging	Het
Slc5a2	A	G	7: 127,871,249 (GRCm39)	T346A	probably benign	Het
Smarcc1	C	G	9: 110,025,388 (GRCm39)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,700,959 (GRCm39)	A314T	probably damaging	Het
Sptb	A	T	12: 76,654,781 (GRCm39)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm39)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,968,171 (GRCm39)	Y424C	probably damaging	Het
Tgm3	A	G	2: 129,883,949 (GRCm39)	K536E	probably benign	Het
Tti2	A	G	8: 31,644,329 (GRCm39)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,258,251 (GRCm39)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm39)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,060,507 (GRCm39)		probably benign	Het
Zfp59	T	C	7: 27,552,922 (GRCm39)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,188,448 (GRCm39)	M144K	possibly damaging	Het
Zfp93	A	T	7: 23,974,806 (GRCm39)	K264*	probably null	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Slco4a1	APN	2	180,106,472 (GRCm39)	missense	probably damaging	1.00
IGL01982:Slco4a1	APN	2	180,114,946 (GRCm39)	missense	probably benign	0.03
IGL02297:Slco4a1	APN	2	180,106,282 (GRCm39)	missense	probably benign	0.16
IGL02368:Slco4a1	APN	2	180,114,921 (GRCm39)	missense	probably damaging	0.98
conduit	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
ingress	UTSW	2	180,107,470 (GRCm39)	missense	probably benign
R1621:Slco4a1	UTSW	2	180,112,925 (GRCm39)	missense	probably benign	0.01
R2275:Slco4a1	UTSW	2	180,106,529 (GRCm39)	missense	possibly damaging	0.94
R2472:Slco4a1	UTSW	2	180,108,880 (GRCm39)	missense	probably damaging	1.00
R3851:Slco4a1	UTSW	2	180,105,884 (GRCm39)	missense	probably benign	0.00
R3852:Slco4a1	UTSW	2	180,105,884 (GRCm39)	missense	probably benign	0.00
R4271:Slco4a1	UTSW	2	180,116,003 (GRCm39)	missense	possibly damaging	0.85
R4439:Slco4a1	UTSW	2	180,114,455 (GRCm39)	missense	probably benign	0.02
R4571:Slco4a1	UTSW	2	180,106,171 (GRCm39)	missense	probably benign	0.32
R4732:Slco4a1	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
R4733:Slco4a1	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
R4925:Slco4a1	UTSW	2	180,113,849 (GRCm39)	missense	probably benign	0.35
R5156:Slco4a1	UTSW	2	180,114,572 (GRCm39)	missense	probably benign	0.01
R5186:Slco4a1	UTSW	2	180,114,901 (GRCm39)	missense	probably damaging	1.00
R5252:Slco4a1	UTSW	2	180,106,252 (GRCm39)	missense	possibly damaging	0.48
R5426:Slco4a1	UTSW	2	180,113,028 (GRCm39)	missense	possibly damaging	0.84
R5470:Slco4a1	UTSW	2	180,115,907 (GRCm39)	missense	probably benign	0.00
R5512:Slco4a1	UTSW	2	180,115,907 (GRCm39)	missense	possibly damaging	0.91
R7133:Slco4a1	UTSW	2	180,113,856 (GRCm39)	missense	possibly damaging	0.93
R7249:Slco4a1	UTSW	2	180,106,604 (GRCm39)	missense	probably benign	0.01
R7357:Slco4a1	UTSW	2	180,113,930 (GRCm39)	missense	probably benign	0.00
R7442:Slco4a1	UTSW	2	180,115,919 (GRCm39)	missense	probably benign
R7599:Slco4a1	UTSW	2	180,113,048 (GRCm39)	missense	probably benign
R7750:Slco4a1	UTSW	2	180,113,030 (GRCm39)	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180,107,470 (GRCm39)	missense	probably benign
R8203:Slco4a1	UTSW	2	180,106,592 (GRCm39)	missense	probably damaging	0.96
R8504:Slco4a1	UTSW	2	180,106,592 (GRCm39)	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180,106,034 (GRCm39)	missense	probably benign	0.00
R9170:Slco4a1	UTSW	2	180,106,478 (GRCm39)	missense	probably benign	0.00
R9210:Slco4a1	UTSW	2	180,114,271 (GRCm39)	missense	probably damaging	1.00
R9455:Slco4a1	UTSW	2	180,115,370 (GRCm39)	missense	probably benign	0.05
R9516:Slco4a1	UTSW	2	180,115,943 (GRCm39)	missense	possibly damaging	0.93
Z1177:Slco4a1	UTSW	2	180,106,357 (GRCm39)	nonsense	probably null
Z1177:Slco4a1	UTSW	2	180,106,174 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GCTCCCTGGTATTTGCACTG -3'
(R):5'- GGTAGCTTAGGGACACTTGG -3'

Sequencing Primer
(F):5'- CGGCCGCTATGAGGTAGAG -3'
(R):5'- ACACTTGGATCATATGGCCG -3'

Posted On

2018-11-28