Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Slco4a1'

433450

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

043031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5470 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180474114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 681 (F681S)

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: F681S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: F681S

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: F681S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: F681S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,168,941	I813F	probably damaging	Het
Aqr	G	A	2: 114,157,575	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,845,284	R182C	probably benign	Het
Bcl2l13	G	T	6: 120,862,872	A44S	probably benign	Het
Brip1	T	C	11: 86,148,542	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,831,125		probably benign	Het
Ccdc7b	T	A	8: 129,072,600	S53T	possibly damaging	Het
Chd8	A	G	14: 52,212,609	F154L	probably damaging	Het
Cop1	A	T	1: 159,266,860		probably benign	Het
Cyp2c39	A	G	19: 39,513,530	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,372,619	M256V	probably benign	Het
Deup1	T	C	9: 15,582,620		probably null	Het
Dnah10	A	G	5: 124,753,168	N709D	probably benign	Het
Dthd1	A	G	5: 62,818,766	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
En2	C	T	5: 28,166,924	T133M	probably benign	Het
Endou	A	G	15: 97,718,955	F229S	probably damaging	Het
Etl4	A	T	2: 20,529,980	H79L	probably damaging	Het
Fah	C	T	7: 84,593,185		probably null	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fignl1	T	A	11: 11,802,640	E138D	probably benign	Het
Fndc3a	A	G	14: 72,574,568	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,436,754	V179E	probably benign	Het
Gm14129	G	T	2: 148,927,817		noncoding transcript	Het
Gorab	A	G	1: 163,392,509	I188T	probably damaging	Het
Gpr152	G	A	19: 4,143,129	C223Y	probably damaging	Het
Heatr5b	A	T	17: 78,821,579		probably null	Het
Hsd17b3	G	T	13: 64,073,899	T104N	probably damaging	Het
Il6ra	C	T	3: 89,885,995	V283M	probably benign	Het
Klk1b16	A	T	7: 44,137,331	I5F	probably damaging	Het
Krt74	G	A	15: 101,754,465		noncoding transcript	Het
Lrch3	T	A	16: 32,998,590	N650K	probably damaging	Het
Ly96	A	T	1: 16,709,486	E126D	probably benign	Het
Mgarp	C	A	3: 51,391,285	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,330,851	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,566,444		probably benign	Het
Neb	A	G	2: 52,249,438	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,931,067	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,639,884		probably null	Het
Nsl1	T	C	1: 191,080,540	M184T	probably benign	Het
Nup133	T	C	8: 123,930,966	N410S	probably benign	Het
Olfr23	T	C	11: 73,940,870	I208T	probably benign	Het
Olfr399	A	G	11: 74,053,907	I284T	possibly damaging	Het
Olfr610	T	G	7: 103,506,509	I146L	probably benign	Het
Opalin	A	G	19: 41,066,531	S75P	probably benign	Het
Palb2	C	A	7: 122,114,351	C903F	probably damaging	Het
Pcm1	T	A	8: 41,287,683	W989R	probably damaging	Het
Pfkfb4	T	A	9: 109,027,593	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,553,270	C119R	probably benign	Het
Plekha1	T	C	7: 130,908,376	V45A	probably damaging	Het
Pold2	G	A	11: 5,873,048	P376S	probably damaging	Het
Rcan2	A	G	17: 43,836,283	D4G	probably benign	Het
Slc12a1	A	T	2: 125,170,714	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,161,516	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,607,870	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Sorcs2	A	T	5: 36,031,183	H860Q	probably benign	Het
Strn	A	T	17: 78,656,945	H530Q	probably benign	Het
Tex14	A	G	11: 87,551,604	R179G	probably damaging	Het
Tjp3	T	C	10: 81,279,547	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,916,711	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,716,973	D2666G	probably null	Het
Ttn	A	T	2: 76,729,864	Y27652N	probably benign	Het
Utp20	T	A	10: 88,817,896	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,933,716	I91V	probably benign	Het
Wdr72	A	T	9: 74,139,699	K76*	probably null	Het
Zfp689	C	T	7: 127,444,253	A402T	probably damaging	Het
Zfpm1	A	G	8: 122,333,793	E207G	probably damaging	Het
Zhx2	G	T	15: 57,823,074	R613L	possibly damaging	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
R5512:Slco4a1	UTSW	2	180474114	missense	possibly damaging	0.91
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
R9455:Slco4a1	UTSW	2	180473577	missense	probably benign	0.05
R9516:Slco4a1	UTSW	2	180474150	missense	possibly damaging	0.93
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'- GTCAGGGTTTCCAGGAAGAGTC -3'

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

Posted On

2016-10-06