Mutagenetix > Incidental Mutations

Incidental Mutation 'R8203:Slco4a1'

635754

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: 0.221) question?

Stock #

R8203 (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 180464799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000045023 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

probably damaging
Transcript: ENSMUST00000038225
AA Change: V258A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: V258A

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: V258A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: V258A

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: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,716,043	S2017T	probably benign	Het
Abcd2	A	G	15: 91,191,166	I148T	probably benign	Het
Agbl3	A	G	6: 34,799,479	T307A	probably damaging	Het
Ahsa1	A	G	12: 87,268,268	D65G	probably damaging	Het
Aicda	T	C	6: 122,561,117	V78A	possibly damaging	Het
Arhgef5	A	G	6: 43,280,645	D1282G	probably damaging	Het
Atf7ip	T	C	6: 136,606,783	S1271P	probably damaging	Het
Atrn	G	A	2: 130,960,549	D537N	probably benign	Het
Cep170	T	A	1: 176,769,311	Q493H	probably benign	Het
Cltc	A	T	11: 86,704,160	Y1371N	possibly damaging	Het
Col12a1	T	C	9: 79,681,549	T1095A	possibly damaging	Het
Cxcr5	T	C	9: 44,514,154	M69V	probably benign	Het
Cyp2c69	A	T	19: 39,881,140	V145E	probably damaging	Het
Ddx3y	T	C	Y: 1,269,827	E185G	probably benign	Het
Dgke	G	A	11: 89,050,367	A330V	probably benign	Het
Dyrk4	A	G	6: 126,894,834	L157P	probably damaging	Het
Ermard	T	A	17: 15,020,286	S337R	possibly damaging	Het
Etl4	A	T	2: 20,785,105	M805L	possibly damaging	Het
Fmn1	T	A	2: 113,525,275	M785K	unknown	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gabrg3	G	A	7: 56,773,260	T230I	possibly damaging	Het
Gle1	A	G	2: 29,935,510	D4G	probably benign	Het
Gm5468	T	C	15: 25,414,441	S26P	noncoding transcript	Het
Igsf10	A	T	3: 59,328,833	L1309Q	probably benign	Het
Lipf	A	G	19: 33,966,883	K164R	probably benign	Het
Luc7l	C	A	17: 26,266,359	T111K	possibly damaging	Het
Masp2	A	G	4: 148,612,142	T399A	probably benign	Het
Mfsd7c	GTAGTGTATA	GTA	12: 85,803,148		probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naip1	T	C	13: 100,425,820	I946V	probably benign	Het
Neb	T	A	2: 52,149,247	K6927*	probably null	Het
Nipal4	A	T	11: 46,150,320	D349E	probably damaging	Het
Olfr1043	T	A	2: 86,162,500	I150F	probably benign	Het
Olfr527	A	T	7: 140,336,026	T55S	probably benign	Het
Olfr837	A	G	9: 19,137,874	N294D	probably damaging	Het
Pdik1l	A	T	4: 134,279,365	H154Q	unknown	Het
Polr2m	T	G	9: 71,479,486	M338L	probably benign	Het
Rab3gap2	T	C	1: 185,267,179	L995P	probably damaging	Het
Rnf17	T	A	14: 56,467,722	H694Q	probably benign	Het
Sar1b	A	G	11: 51,779,697	K23E	probably benign	Het
Setd7	A	T	3: 51,530,098	Y245*	probably null	Het
Shpk	A	C	11: 73,214,078	D171A	probably benign	Het
Slc2a7	G	T	4: 150,158,558	E279*	probably null	Het
Srcin1	G	T	11: 97,566,713	P62Q	probably damaging	Het
Tbc1d2	A	G	4: 46,606,476	F823S	probably damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tdrd9	T	A	12: 112,025,630	V613E	probably damaging	Het
Tsc1	A	G	2: 28,672,995		probably null	Het
Ulk4	A	T	9: 121,168,208	M766K	probably damaging	Het
Wdr36	G	T	18: 32,852,083	G481*	probably null	Het
Yme1l1	G	A	2: 23,164,526	R119H	probably benign	Het
Zfp106	G	A	2: 120,519,078	T1644I	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
R7750:Slco4a1	UTSW	2	180471237	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180465677	missense	probably benign
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'- GCTCCCTGGTATTTGCACTG -3'
(R):5'- GCTTAGGGACACTTGGATCATATG -3'

Sequencing Primer
(F):5'- CGGCCGCTATGAGGTAGAG -3'
(R):5'- CACTTGGATCATATGGCCGAG -3'

Posted On

2020-07-13