Mutagenetix > Incidental Mutations

Incidental Mutation 'R5512:Slco4a1'

440074

Institutional Source

Beutler Lab

Gene Symbol

Slco4a1

Ensembl Gene

ENSMUSG00000038963

Gene Name

solute carrier organic anion transporter family, member 4a1

Synonyms

Slc21a12, OATP-E

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180474114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 681 (F681Y)

Ref Sequence

ENSEMBL: ENSMUSP00000046502 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038225
AA Change: F681Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: F681Y

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

possibly damaging
Transcript: ENSMUST00000038259
AA Change: F681Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: F681Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139902

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,350,660	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Adgre5	T	C	8: 83,729,086	N198D	probably benign	Het
Adgrf4	G	T	17: 42,667,285	T389K	probably benign	Het
Apc	T	A	18: 34,310,909		probably benign	Het
Appl2	T	A	10: 83,605,818	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,499,774	Q531*	probably null	Het
Atp7b	T	C	8: 22,012,739	T694A	probably benign	Het
Cacna1g	T	A	11: 94,444,142	I780F	probably damaging	Het
Calcoco2	T	C	11: 96,103,336	K95E	probably damaging	Het
Cars	T	C	7: 143,570,133	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,354,647	E690A	probably damaging	Het
Cdc73	G	T	1: 143,702,616	D3E	probably damaging	Het
Cdh23	C	A	10: 60,534,386		probably null	Het
Cep170b	T	C	12: 112,733,485	S143P	possibly damaging	Het
Cherp	T	C	8: 72,463,266	I607V	possibly damaging	Het
CN725425	T	A	15: 91,240,756	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,399,835	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,788,991	P881S	possibly damaging	Het
Dsg1c	A	T	18: 20,272,511	N327I	probably damaging	Het
Fam208b	A	T	13: 3,595,517	Y111N	probably damaging	Het
Fbxw7	G	A	3: 84,954,909	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,838,183	V24E	probably benign	Het
Fut11	T	C	14: 20,696,001	S304P	probably damaging	Het
Ggt1	C	T	10: 75,584,884	T361I	probably damaging	Het
Gimap7	G	T	6: 48,723,596	A39S	probably benign	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gm17541	G	T	12: 4,689,452		probably benign	Het
Gmip	T	A	8: 69,817,890	V750E	probably benign	Het
Gna14	A	G	19: 16,608,128	E290G	probably benign	Het
Gpnmb	T	C	6: 49,045,464	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,924,016	K447R	probably benign	Het
Hsd3b1	A	G	3: 98,853,205	Y157H	probably benign	Het
Iqgap2	G	A	13: 95,675,376	Q706*	probably null	Het
Krt222	A	C	11: 99,234,955	S283R	probably damaging	Het
Ldb2	G	A	5: 44,480,244	R241W	probably damaging	Het
Lrrc8d	C	G	5: 105,812,784	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,812,785	E354K	probably benign	Het
Masp2	A	T	4: 148,614,069	I536F	probably damaging	Het
Mptx1	A	G	1: 174,332,749	D207G	probably benign	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Napsa	A	G	7: 44,572,616	M1V	probably null	Het
Ncam1	A	T	9: 49,509,699		probably null	Het
Nckap5	G	A	1: 126,027,744	P425L	possibly damaging	Het
Nol8	A	G	13: 49,676,787	S1116G	probably benign	Het
Nrde2	G	T	12: 100,142,250	Q361K	probably benign	Het
Nudt13	G	A	14: 20,307,732	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,206,810	Q248K	probably benign	Het
Olfm4	A	G	14: 80,021,347	D345G	probably benign	Het
Olfr1287	G	A	2: 111,449,754	V205I	probably benign	Het
Olfr720	C	A	14: 14,175,633	G150C	probably damaging	Het
Osbpl3	T	G	6: 50,309,360	K659N	probably damaging	Het
Pdk2	G	A	11: 95,039,466	T48M	probably damaging	Het
Phf11a	A	T	14: 59,287,550	D68E	probably benign	Het
Prrxl1	A	G	14: 32,600,044	H5R	probably damaging	Het
Purb	A	G	11: 6,475,702	V62A	probably damaging	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,261,049		probably benign	Het
Rtl1	C	T	12: 109,591,371	E1345K	unknown	Het
Sema3e	G	A	5: 14,230,180	A358T	probably damaging	Het
Slc29a2	A	G	19: 5,026,398	I105V	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc6a5	G	A	7: 49,941,825	V513I	probably damaging	Het
Sp1	A	G	15: 102,431,010	N775S	possibly damaging	Het
Sspo	T	A	6: 48,455,671	V827D	probably damaging	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tars2	A	T	3: 95,750,416	C238S	probably damaging	Het
Tnks1bp1	C	A	2: 85,062,834	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,046	L373P	probably damaging	Het
Unc45b	A	C	11: 82,915,072	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,261,415	M1L	probably benign	Het
Vmn2r66	T	C	7: 85,007,941	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,168,232	L93W	probably benign	Het
Vwf	G	T	6: 125,673,887		probably benign	Het
Ythdf3	A	G	3: 16,183,922	R9G	probably damaging	Het
Zfp229	A	G	17: 21,745,036		probably null	Het
Zfp958	A	C	8: 4,625,838		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
R6969:Slco4a1	UTSW	2	180464808	missense	probably benign
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'- AGTCCGTACCAGGTCTTTCC -3'
(R):5'- AGGGTTTCCAGGAAGAGTCC -3'

Sequencing Primer
(F):5'- GGCTCCTACTTTTAACCAAAGGTG -3'
(R):5'- TCCTCAGGAAATGTGGAGAGGC -3'

Posted On

2016-11-08