Mutagenetix > Incidental Mutation

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

OATP-E, Slc21a12

Accession Numbers

Essential gene?

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

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180098038-180116660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180115907 bp (GRCm39)

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: 130,952,389 (GRCm39)	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Adgre5	T	C	8: 84,455,715 (GRCm39)	N198D	probably benign	Het
Adgrf4	G	T	17: 42,978,176 (GRCm39)	T389K	probably benign	Het
Apc	T	A	18: 34,443,962 (GRCm39)		probably benign	Het
Appl2	T	A	10: 83,441,682 (GRCm39)	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,632,845 (GRCm39)	Q531*	probably null	Het
Atp7b	T	C	8: 22,502,755 (GRCm39)	T694A	probably benign	Het
Cacna1g	T	A	11: 94,334,968 (GRCm39)	I780F	probably damaging	Het
Calcoco2	T	C	11: 95,994,162 (GRCm39)	K95E	probably damaging	Het
Cars1	T	C	7: 143,123,870 (GRCm39)	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,393,806 (GRCm39)	E690A	probably damaging	Het
Cdc73	G	T	1: 143,578,354 (GRCm39)	D3E	probably damaging	Het
Cdh23	C	A	10: 60,370,165 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,699,919 (GRCm39)	S143P	possibly damaging	Het
Cherp	T	C	8: 73,217,110 (GRCm39)	I607V	possibly damaging	Het
CN725425	T	A	15: 91,124,959 (GRCm39)	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,227,404 (GRCm39)	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,624,825 (GRCm39)	P881S	possibly damaging	Het
Drgx	A	G	14: 32,322,001 (GRCm39)	H5R	probably damaging	Het
Dsg1c	A	T	18: 20,405,568 (GRCm39)	N327I	probably damaging	Het
Fbxw7	G	A	3: 84,862,216 (GRCm39)	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,888,183 (GRCm39)	V24E	probably benign	Het
Fut11	T	C	14: 20,746,069 (GRCm39)	S304P	probably damaging	Het
Ggt1	C	T	10: 75,420,718 (GRCm39)	T361I	probably damaging	Het
Gimap7	G	T	6: 48,700,530 (GRCm39)	A39S	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm17541	G	T	12: 4,739,452 (GRCm39)		probably benign	Het
Gmip	T	A	8: 70,270,540 (GRCm39)	V750E	probably benign	Het
Gna14	A	G	19: 16,585,492 (GRCm39)	E290G	probably benign	Het
Gpnmb	T	C	6: 49,022,398 (GRCm39)	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,795,865 (GRCm39)	K447R	probably benign	Het
Hsd3b1	A	G	3: 98,760,521 (GRCm39)	Y157H	probably benign	Het
Iqgap2	G	A	13: 95,811,884 (GRCm39)	Q706*	probably null	Het
Krt222	A	C	11: 99,125,781 (GRCm39)	S283R	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Masp2	A	T	4: 148,698,526 (GRCm39)	I536F	probably damaging	Het
Mptx1	A	G	1: 174,160,315 (GRCm39)	D207G	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Napsa	A	G	7: 44,222,040 (GRCm39)	M1V	probably null	Het
Ncam1	A	T	9: 49,420,999 (GRCm39)		probably null	Het
Nckap5	G	A	1: 125,955,481 (GRCm39)	P425L	possibly damaging	Het
Nol8	A	G	13: 49,830,263 (GRCm39)	S1116G	probably benign	Het
Nrde2	G	T	12: 100,108,509 (GRCm39)	Q361K	probably benign	Het
Nudt13	G	A	14: 20,357,800 (GRCm39)	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,360,286 (GRCm39)	Q248K	probably benign	Het
Olfm4	A	G	14: 80,258,787 (GRCm39)	D345G	probably benign	Het
Or2t6	C	A	14: 14,175,633 (GRCm38)	G150C	probably damaging	Het
Or4k41	G	A	2: 111,280,099 (GRCm39)	V205I	probably benign	Het
Osbpl3	T	G	6: 50,286,340 (GRCm39)	K659N	probably damaging	Het
Pdk2	G	A	11: 94,930,292 (GRCm39)	T48M	probably damaging	Het
Phf11a	A	T	14: 59,524,999 (GRCm39)	D68E	probably benign	Het
Purb	A	G	11: 6,425,702 (GRCm39)	V62A	probably damaging	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,557,805 (GRCm39)	E1345K	unknown	Het
Sema3e	G	A	5: 14,280,194 (GRCm39)	A358T	probably damaging	Het
Slc29a2	A	G	19: 5,076,426 (GRCm39)	I105V	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc6a5	G	A	7: 49,591,573 (GRCm39)	V513I	probably damaging	Het
Sp1	A	G	15: 102,339,445 (GRCm39)	N775S	possibly damaging	Het
Sspo	T	A	6: 48,432,605 (GRCm39)	V827D	probably damaging	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tars2	A	T	3: 95,657,728 (GRCm39)	C238S	probably damaging	Het
Tasor2	A	T	13: 3,645,517 (GRCm39)	Y111N	probably damaging	Het
Tnks1bp1	C	A	2: 84,893,178 (GRCm39)	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,045 (GRCm39)	L373P	probably damaging	Het
Unc45b	A	C	11: 82,805,898 (GRCm39)	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,481,677 (GRCm39)	M1L	probably benign	Het
Vmn2r66	T	C	7: 84,657,149 (GRCm39)	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,004,066 (GRCm39)	L93W	probably benign	Het
Vwf	G	T	6: 125,650,850 (GRCm39)		probably benign	Het
Ythdf3	A	G	3: 16,238,086 (GRCm39)	R9G	probably damaging	Het
Zfp229	A	G	17: 21,964,017 (GRCm39)		probably null	Het
Zfp958	A	C	8: 4,675,838 (GRCm39)		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
R6969:Slco4a1	UTSW	2	180,106,601 (GRCm39)	missense	probably benign
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'- AGTCCGTACCAGGTCTTTCC -3'
(R):5'- AGGGTTTCCAGGAAGAGTCC -3'

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

Posted On

2016-11-08