Mutagenetix > Incidental Mutation

Incidental Mutation 'R5186:Slco4a1'

397864

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

042765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5186 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180473108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 608 (V608A)

Ref Sequence

ENSEMBL: ENSMUSP00000046502 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

probably damaging
Transcript: ENSMUST00000038225
AA Change: V608A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: V608A

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 damaging
Transcript: ENSMUST00000038259
AA Change: V608A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: V608A

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: ENSMUST00000138446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139902

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,743,739 (GRCm38)	L89H	probably damaging	Het
Abca8a	T	C	11: 110,091,599 (GRCm38)	I6V	probably null	Het
Aox1	A	G	1: 58,068,370 (GRCm38)	D601G	probably damaging	Het
Asic1	GCACC	GCACCACC	15: 99,698,803 (GRCm38)		probably benign	Het
Cacna1g	T	G	11: 94,442,848 (GRCm38)	N931T	probably damaging	Het
Ccdc14	T	C	16: 34,721,585 (GRCm38)	F511L	probably damaging	Het
Cd177	T	A	7: 24,744,923 (GRCm38)	E710V	probably benign	Het
Cep112	T	C	11: 108,752,560 (GRCm38)	C49R	probably benign	Het
Clip2	G	A	5: 134,522,791 (GRCm38)	T159M	possibly damaging	Het
Dnah2	T	C	11: 69,435,884 (GRCm38)	N3575S	probably damaging	Het
Dnah6	T	A	6: 73,067,427 (GRCm38)	I3234F	probably damaging	Het
Eci3	G	T	13: 34,946,978 (GRCm38)	A302E	possibly damaging	Het
Fam204a	T	C	19: 60,199,989 (GRCm38)	K214E	probably damaging	Het
Fam78a	T	C	2: 32,082,654 (GRCm38)	T85A	possibly damaging	Het
Flnb	T	C	14: 7,909,748 (GRCm38)	Y1401H	probably damaging	Het
Foxl2	A	T	9: 98,956,055 (GRCm38)	D132V	probably damaging	Het
Frs2	C	A	10: 117,078,842 (GRCm38)	W57C	probably damaging	Het
Gm26558	G	T	2: 70,661,417 (GRCm38)		probably benign	Het
Gpr139	A	G	7: 119,144,840 (GRCm38)	V174A	probably benign	Het
Grik5	T	C	7: 25,015,819 (GRCm38)	T676A	probably damaging	Het
H60c	T	C	10: 3,259,273 (GRCm38)		probably null	Het
Hspa1l	A	G	17: 34,978,469 (GRCm38)	K495E	probably damaging	Het
Irgm1	C	T	11: 48,866,217 (GRCm38)	V256I	probably benign	Het
Kat7	T	A	11: 95,286,416 (GRCm38)	T293S	probably benign	Het
Lipg	C	T	18: 74,960,938 (GRCm38)	V13I	probably benign	Het
Lrrn1	A	T	6: 107,569,224 (GRCm38)	Y661F	probably damaging	Het
Mllt3	A	G	4: 87,840,995 (GRCm38)	V272A	probably benign	Het
Mx1	G	A	16: 97,455,494 (GRCm38)	R162C	probably benign	Het
Myo18b	T	A	5: 112,871,470 (GRCm38)	D647V	probably damaging	Het
Naf1	G	A	8: 66,879,646 (GRCm38)	V329I	probably benign	Het
Olfr1286	A	T	2: 111,420,774 (GRCm38)	M59K	probably damaging	Het
Olfr654	A	T	7: 104,588,211 (GRCm38)	I153F	probably damaging	Het
Olfr936	A	T	9: 39,046,969 (GRCm38)	C194*	probably null	Het
P2rx5	G	A	11: 73,171,790 (GRCm38)	V442M	possibly damaging	Het
Pcdhb9	A	G	18: 37,401,232 (GRCm38)	E93G	probably damaging	Het
Pcdhga4	A	T	18: 37,687,426 (GRCm38)	N676I	probably benign	Het
Pgm5	A	G	19: 24,820,128 (GRCm38)	M230T	probably damaging	Het
Pik3c2g	T	C	6: 139,622,018 (GRCm38)	V44A	probably damaging	Het
Pp2d1	T	C	17: 53,508,140 (GRCm38)	M519V	probably benign	Het
Ppp1r10	A	G	17: 35,928,511 (GRCm38)	E404G	probably damaging	Het
Prpf8	A	T	11: 75,489,783 (GRCm38)	E104V	possibly damaging	Het
Ptpa	T	C	2: 30,438,355 (GRCm38)		probably null	Het
Pygl	A	C	12: 70,201,344 (GRCm38)	N248K	probably damaging	Het
Rbm8a	A	G	3: 96,630,932 (GRCm38)	D102G	probably damaging	Het
Sema3d	A	G	5: 12,584,908 (GRCm38)	D647G	probably benign	Het
Serpinb11	A	T	1: 107,379,754 (GRCm38)	D305V	probably damaging	Het
Slc12a8	T	C	16: 33,617,208 (GRCm38)	I337T	probably damaging	Het
Slc29a2	G	A	19: 5,028,967 (GRCm38)	R286Q	probably benign	Het
Slc2a3	T	A	6: 122,735,583 (GRCm38)	D234V	probably damaging	Het
Srrm2	C	T	17: 23,816,587 (GRCm38)	T831I	probably benign	Het
St18	T	A	1: 6,802,317 (GRCm38)		probably null	Het
Tesk2	G	C	4: 116,741,896 (GRCm38)	G67A	probably damaging	Het
Tlr1	A	T	5: 64,925,221 (GRCm38)	L671H	probably damaging	Het
Tmem63b	A	T	17: 45,661,477 (GRCm38)	Y735N	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,079 (GRCm38)	C263Y	probably damaging	Het
Trio	A	T	15: 27,897,991 (GRCm38)	V345E	probably damaging	Het
Ubr5	A	G	15: 37,997,916 (GRCm38)	S1674P	probably damaging	Het
Uchl3	T	A	14: 101,695,917 (GRCm38)	C209S	probably damaging	Het
Uhmk1	T	C	1: 170,211,167 (GRCm38)	N206S	probably damaging	Het
Uhrf1	C	T	17: 56,318,340 (GRCm38)	R588W	probably damaging	Het
Usp28	T	C	9: 49,010,250 (GRCm38)	V256A	probably damaging	Het
Utrn	C	A	10: 12,728,777 (GRCm38)	L552F	probably damaging	Het
Vmn1r55	A	T	7: 5,146,986 (GRCm38)	M146K	probably damaging	Het
Vmn1r57	A	C	7: 5,221,108 (GRCm38)	I211L	probably benign	Het
Zar1	C	T	5: 72,577,399 (GRCm38)	C316Y	probably damaging	Het
Zc3h11a	A	T	1: 133,621,674 (GRCm38)	S750T	probably damaging	Het
Zcchc6	A	G	13: 59,816,656 (GRCm38)		probably null	Het
Zfp366	G	A	13: 99,246,168 (GRCm38)	C613Y	probably benign	Het
Zfp37	A	T	4: 62,191,256 (GRCm38)	C524S	probably damaging	Het
Zfp516	T	C	18: 82,957,093 (GRCm38)	V472A	probably benign	Het
Zhx1	A	T	15: 58,052,423 (GRCm38)	M809K	probably damaging	Het
Zic1	T	C	9: 91,364,371 (GRCm38)	Y216C	probably damaging	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Slco4a1	APN	2	180,464,679 (GRCm38)	missense	probably damaging	1.00
IGL01982:Slco4a1	APN	2	180,473,153 (GRCm38)	missense	probably benign	0.03
IGL02297:Slco4a1	APN	2	180,464,489 (GRCm38)	missense	probably benign	0.16
IGL02368:Slco4a1	APN	2	180,473,128 (GRCm38)	missense	probably damaging	0.98
conduit	UTSW	2	180,473,615 (GRCm38)	missense	probably damaging	1.00
ingress	UTSW	2	180,465,677 (GRCm38)	missense	probably benign
R1621:Slco4a1	UTSW	2	180,471,132 (GRCm38)	missense	probably benign	0.01
R2275:Slco4a1	UTSW	2	180,464,736 (GRCm38)	missense	possibly damaging	0.94
R2472:Slco4a1	UTSW	2	180,467,087 (GRCm38)	missense	probably damaging	1.00
R3851:Slco4a1	UTSW	2	180,464,091 (GRCm38)	missense	probably benign	0.00
R3852:Slco4a1	UTSW	2	180,464,091 (GRCm38)	missense	probably benign	0.00
R4271:Slco4a1	UTSW	2	180,474,210 (GRCm38)	missense	possibly damaging	0.85
R4439:Slco4a1	UTSW	2	180,472,662 (GRCm38)	missense	probably benign	0.02
R4571:Slco4a1	UTSW	2	180,464,378 (GRCm38)	missense	probably benign	0.32
R4732:Slco4a1	UTSW	2	180,473,615 (GRCm38)	missense	probably damaging	1.00
R4733:Slco4a1	UTSW	2	180,473,615 (GRCm38)	missense	probably damaging	1.00
R4925:Slco4a1	UTSW	2	180,472,056 (GRCm38)	missense	probably benign	0.35
R5156:Slco4a1	UTSW	2	180,472,779 (GRCm38)	missense	probably benign	0.01
R5252:Slco4a1	UTSW	2	180,464,459 (GRCm38)	missense	possibly damaging	0.48
R5426:Slco4a1	UTSW	2	180,471,235 (GRCm38)	missense	possibly damaging	0.84
R5470:Slco4a1	UTSW	2	180,474,114 (GRCm38)	missense	probably benign	0.00
R5512:Slco4a1	UTSW	2	180,474,114 (GRCm38)	missense	possibly damaging	0.91
R6969:Slco4a1	UTSW	2	180,464,808 (GRCm38)	missense	probably benign
R7133:Slco4a1	UTSW	2	180,472,063 (GRCm38)	missense	possibly damaging	0.93
R7249:Slco4a1	UTSW	2	180,464,811 (GRCm38)	missense	probably benign	0.01
R7357:Slco4a1	UTSW	2	180,472,137 (GRCm38)	missense	probably benign	0.00
R7442:Slco4a1	UTSW	2	180,474,126 (GRCm38)	missense	probably benign
R7599:Slco4a1	UTSW	2	180,471,255 (GRCm38)	missense	probably benign
R7750:Slco4a1	UTSW	2	180,471,237 (GRCm38)	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180,465,677 (GRCm38)	missense	probably benign
R8203:Slco4a1	UTSW	2	180,464,799 (GRCm38)	missense	probably damaging	0.96
R8504:Slco4a1	UTSW	2	180,464,799 (GRCm38)	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180,464,241 (GRCm38)	missense	probably benign	0.00
R9170:Slco4a1	UTSW	2	180,464,685 (GRCm38)	missense	probably benign	0.00
R9210:Slco4a1	UTSW	2	180,472,478 (GRCm38)	missense	probably damaging	1.00
R9455:Slco4a1	UTSW	2	180,473,577 (GRCm38)	missense	probably benign	0.05
R9516:Slco4a1	UTSW	2	180,474,150 (GRCm38)	missense	possibly damaging	0.93
Z1177:Slco4a1	UTSW	2	180,464,564 (GRCm38)	nonsense	probably null
Z1177:Slco4a1	UTSW	2	180,464,381 (GRCm38)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ATGGGCCTCATTCTAGTGGC -3'
(R):5'- TGTTGAGGCTAAGAAACCTACAG -3'

Sequencing Primer
(F):5'- CCTCATTCTAGTGGCATCGGAG -3'
(R):5'- ACAATGTGTCCCTCTAGTGGGC -3'

Posted On

2016-07-06