Mutagenetix > Incidental Mutations

Incidental Mutation 'R7750:Slco4a1'

597136

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: 0.195) question?

Stock #

R7750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180471237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 421 (S421P)

Ref Sequence

ENSEMBL: ENSMUSP00000045023 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

probably benign
Transcript: ENSMUST00000038225
AA Change: S421P

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: S421P

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: S421P

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: S421P

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,200	D816V	possibly damaging	Het
Abca16	A	T	7: 120,514,705	N933I	probably benign	Het
Acly	A	T	11: 100,478,013		probably null	Het
Acox1	C	T	11: 116,183,580	G105D	possibly damaging	Het
Ankrd24	A	G	10: 81,646,794	E939G	possibly damaging	Het
Bard1	T	A	1: 71,066,942		probably null	Het
Brd4	G	T	17: 32,213,547	N579K	unknown	Het
C1qc	T	C	4: 136,890,281	Y168C	probably damaging	Het
Casp6	A	G	3: 129,912,209	D175G	probably damaging	Het
Ccdc83	A	T	7: 90,223,982	Y388*	probably null	Het
Clasrp	A	T	7: 19,584,591	*628R	probably null	Het
Cox4i1	A	G	8: 120,673,310	I111V	probably benign	Het
Cpvl	T	A	6: 53,926,901	D293V	probably damaging	Het
Epb41l4b	C	T	4: 57,076,913		probably null	Het
Frem2	C	A	3: 53,523,682	L2743F	possibly damaging	Het
Frmd4a	A	T	2: 4,601,349	H628L	probably benign	Het
Fyb	A	G	15: 6,660,703	D809G	probably damaging	Het
Gm19410	T	A	8: 35,807,498	M1491K	possibly damaging	Het
Gm3604	G	A	13: 62,369,996	H183Y	possibly damaging	Het
H1fnt	A	G	15: 98,256,684	S195P	unknown	Het
Lama2	T	C	10: 26,990,924	Y2858C	probably damaging	Het
Methig1	T	C	15: 100,353,531	F108L	probably benign	Het
Mfsd4b5	A	G	10: 39,970,255	V443A	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myh9	C	T	15: 77,783,410	V608I	probably benign	Het
Myo1g	T	C	11: 6,514,849	D475G	probably damaging	Het
Neb	A	C	2: 52,280,716		probably null	Het
Nlrp1b	T	A	11: 71,168,839	I769F	probably benign	Het
Nol8	G	T	13: 49,662,266	V617F	possibly damaging	Het
Olfr715b	A	T	7: 107,106,533	C109*	probably null	Het
Pik3r2	A	G	8: 70,770,901	F346S	probably damaging	Het
Pou3f3	T	A	1: 42,698,148	F335I	probably damaging	Het
Ppp1r3e	T	C	14: 54,876,627	D196G	probably damaging	Het
Prpf40a	T	C	2: 53,151,745	T545A	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rprd1a	T	A	18: 24,508,254	K102*	probably null	Het
Sim1	A	G	10: 50,896,035	T47A	possibly damaging	Het
Slc45a1	C	T	4: 150,644,041	A102T	probably damaging	Het
Slc6a11	C	T	6: 114,230,137	P361S	possibly damaging	Het
Slc9b2	T	C	3: 135,326,237	F286S	probably damaging	Het
Snap91	A	C	9: 86,798,709		probably null	Het
Sppl2a	A	G	2: 126,919,705	L293P	probably damaging	Het
Sval3	T	A	6: 41,972,426	I66K	possibly damaging	Het
Synj2bp	T	C	12: 81,504,537	I85V	probably benign	Het
Thop1	G	T	10: 81,080,191	A403S	probably benign	Het
Timd4	T	A	11: 46,815,527	M52K	probably damaging	Het
Tmco5b	A	G	2: 113,288,264	N111D	probably damaging	Het
Trip10	G	A	17: 57,261,667	V419I	possibly damaging	Het
Trpv3	T	C	11: 73,286,021	Y409H	probably damaging	Het
Tulp4	A	G	17: 6,233,124	T1143A	probably damaging	Het
Ugt2b5	A	T	5: 87,140,249	S20T	probably benign	Het
Unc5b	A	G	10: 60,775,044	F406L	probably benign	Het
Usf3	A	G	16: 44,220,521	E1788G	probably benign	Het
Usp45	A	G	4: 21,780,430	D27G	probably damaging	Het
Vmn2r100	G	A	17: 19,522,464	V367I	probably benign	Het
Vmn2r49	T	A	7: 9,976,258	K849I	probably damaging	Het
Zfp119b	A	T	17: 55,938,682	H501Q	probably damaging	Het
Zfp462	C	A	4: 55,016,958	H893N	probably benign	Het
Zkscan4	A	G	13: 21,479,355	E88G	probably 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
R5470:Slco4a1	UTSW	2	180474114	missense	probably benign	0.00
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
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
Z1177:Slco4a1	UTSW	2	180464381	missense	possibly damaging	0.85
Z1177:Slco4a1	UTSW	2	180464564	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAACCCAGTGCCTTTCCTGTG -3'
(R):5'- GGCCCAAACCCTTTCTGTAAG -3'

Sequencing Primer
(F):5'- AACGGCAGGTTCCTTGCATG -3'
(R):5'- CTTTCTGTAAGGAGTGGTAGGTAAAG -3'

Posted On

2019-11-26