Mutagenetix > Incidental Mutations

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

Slc21a12, OATP-E

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R6969 (G1)

Quality Score

193.009

Status

Not validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180464808 bp (GRCm38)

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: 86,981,335	L800H	unknown	Het
Ap2b1	T	A	11: 83,389,726	D788E	probably damaging	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Arhgap9	G	A	10: 127,326,643	E348K	probably benign	Het
B4galnt2	A	T	11: 95,891,930	F19I	probably benign	Het
Bdp1	A	T	13: 100,074,531	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,852,305	*427Q	probably null	Het
Chd9	A	C	8: 90,978,914	Q260P	probably benign	Het
Col16a1	A	T	4: 130,093,087		probably benign	Het
Csmd1	A	T	8: 17,216,789	N40K	possibly damaging	Het
Depdc5	T	G	5: 32,983,860	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,358,238	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,282,492	Q691R	probably damaging	Het
Dusp10	T	C	1: 184,068,888	L284P	probably damaging	Het
Efr3b	A	G	12: 3,968,624	V574A	probably benign	Het
Erc2	A	T	14: 27,898,596	I60F	probably damaging	Het
Exoc2	A	G	13: 30,911,178	V245A	probably benign	Het
Fasl	G	T	1: 161,781,675	F37L	probably damaging	Het
Fat3	G	A	9: 16,029,916	P1360S	probably benign	Het
Gm12666	A	G	4: 92,191,589	I54T	probably damaging	Het
Gpsm1	C	T	2: 26,340,543	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,555,331	G124V	probably damaging	Het
Insm2	T	C	12: 55,600,178	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,882,694	Y402H	possibly damaging	Het
Irx6	A	G	8: 92,677,330	E175G	probably damaging	Het
Kcnh8	C	T	17: 52,877,943	R418*	probably null	Het
Kif3c	G	A	12: 3,366,114	R45Q	probably benign	Het
Lpin1	A	G	12: 16,580,861	F12S	probably damaging	Het
Lrba	A	T	3: 86,619,590	T156S	probably benign	Het
Lrrc19	G	T	4: 94,639,373	N200K	probably benign	Het
Lrrc7	G	A	3: 158,156,913	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,415,690	F661Y	probably damaging	Het
Macf1	T	C	4: 123,457,800	Y1893C	probably benign	Het
Mmd	G	C	11: 90,257,536	A15P	probably damaging	Het
Myh2	T	C	11: 67,197,266	F1903L	probably benign	Het
Myom3	T	C	4: 135,801,060	L1072P	probably damaging	Het
Olfr1350	G	A	7: 6,570,321	C110Y	probably damaging	Het
Olfr1402	A	T	3: 97,410,802	Y126*	probably null	Het
Olfr680-ps1	T	C	7: 105,091,256	I128V	probably benign	Het
Olfr855	A	T	9: 19,584,590	T18S	possibly damaging	Het
Patl2	A	T	2: 122,128,929	V18D	possibly damaging	Het
Pkn1	T	C	8: 83,683,426	S395G	probably damaging	Het
Ptprm	A	G	17: 66,912,418	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 185,236,012	L187P	probably damaging	Het
Ric1	A	T	19: 29,585,782	E535V	probably damaging	Het
Ripor3	T	C	2: 167,985,737	K598R	probably benign	Het
Rnf40	A	G	7: 127,596,323	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sbsn	A	G	7: 30,753,191	T544A	probably benign	Het
Scaf1	C	A	7: 45,007,829		probably benign	Het
Sec24a	T	C	11: 51,700,816	M1018V	probably benign	Het
Shmt1	C	T	11: 60,804,327	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,308,826	V383F	probably damaging	Het
Slc5a2	A	G	7: 128,272,077	T346A	probably benign	Het
Smarcc1	C	G	9: 110,196,320	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,865,125	A314T	probably damaging	Het
Sptb	A	T	12: 76,608,007	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,241,542	Y424C	probably damaging	Het
Tgm3	A	G	2: 130,042,029	K536E	probably benign	Het
Tti2	A	G	8: 31,154,301	I309V	possibly damaging	Het
Tymp	G	A	15: 89,374,048	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,031,653		probably benign	Het
Zfp59	T	C	7: 27,853,497	S125P	probably damaging	Het
Zfp641	A	T	15: 98,290,567	M144K	possibly damaging	Het
Zfp93	A	T	7: 24,275,381	K264*	probably null	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Slco4a1	APN	2	180464679	missense	probably damaging	1.00
IGL01982:Slco4a1	APN	2	180473153	missense	probably benign	0.03
IGL02297:Slco4a1	APN	2	180464489	missense	probably benign	0.16
IGL02368:Slco4a1	APN	2	180473128	missense	probably damaging	0.98
conduit	UTSW	2	180473615	missense	probably damaging	1.00
ingress	UTSW	2	180465677	missense	probably benign
R1621:Slco4a1	UTSW	2	180471132	missense	probably benign	0.01
R2275:Slco4a1	UTSW	2	180464736	missense	possibly damaging	0.94
R2472:Slco4a1	UTSW	2	180467087	missense	probably damaging	1.00
R3851:Slco4a1	UTSW	2	180464091	missense	probably benign	0.00
R3852:Slco4a1	UTSW	2	180464091	missense	probably benign	0.00
R4271:Slco4a1	UTSW	2	180474210	missense	possibly damaging	0.85
R4439:Slco4a1	UTSW	2	180472662	missense	probably benign	0.02
R4571:Slco4a1	UTSW	2	180464378	missense	probably benign	0.32
R4732:Slco4a1	UTSW	2	180473615	missense	probably damaging	1.00
R4733:Slco4a1	UTSW	2	180473615	missense	probably damaging	1.00
R4925:Slco4a1	UTSW	2	180472056	missense	probably benign	0.35
R5156:Slco4a1	UTSW	2	180472779	missense	probably benign	0.01
R5186:Slco4a1	UTSW	2	180473108	missense	probably damaging	1.00
R5252:Slco4a1	UTSW	2	180464459	missense	possibly damaging	0.48
R5426:Slco4a1	UTSW	2	180471235	missense	possibly damaging	0.84
R5470:Slco4a1	UTSW	2	180474114	missense	probably benign	0.00
R5512:Slco4a1	UTSW	2	180474114	missense	possibly damaging	0.91
R7133:Slco4a1	UTSW	2	180472063	missense	possibly damaging	0.93
R7249:Slco4a1	UTSW	2	180464811	missense	probably benign	0.01
R7357:Slco4a1	UTSW	2	180472137	missense	probably benign	0.00
R7442:Slco4a1	UTSW	2	180474126	missense	probably benign
R7599:Slco4a1	UTSW	2	180471255	missense	probably benign
R7750:Slco4a1	UTSW	2	180471237	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180465677	missense	probably benign
R8203:Slco4a1	UTSW	2	180464799	missense	probably damaging	0.96
R8504:Slco4a1	UTSW	2	180464799	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180464241	missense	probably benign	0.00
R9170:Slco4a1	UTSW	2	180464685	missense	probably benign	0.00
R9210:Slco4a1	UTSW	2	180472478	missense	probably damaging	1.00
Z1177:Slco4a1	UTSW	2	180464381	missense	possibly damaging	0.85
Z1177:Slco4a1	UTSW	2	180464564	nonsense	probably null

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