Mutagenetix > Incidental Mutation

Incidental Mutation 'R5252:Slco4a1'

399090

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

042823-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R5252 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180464459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 145 (A145T)

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: A145T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: A145T

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: A145T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: A145T

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: ENSMUST00000138446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139902

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	A	4: 42,971,706	F346L	probably benign	Het
Alox12b	G	T	11: 69,165,936	R386L	probably damaging	Het
Ano8	A	T	8: 71,482,617	Y346N	probably damaging	Het
Cabp4	T	C	19: 4,136,068		probably benign	Het
Canx	A	T	11: 50,308,794	I148N	probably damaging	Het
Ccdc141	A	G	2: 77,132,249	V117A	probably benign	Het
Cdk12	A	T	11: 98,243,509	N1078Y	unknown	Het
Cdk7	T	A	13: 100,730,460	K42*	probably null	Het
Col6a5	T	C	9: 105,940,290	D274G	unknown	Het
Cux1	T	C	5: 136,308,297	E696G	probably damaging	Het
Cxxc1	C	T	18: 74,219,951	A444V	probably benign	Het
Dll1	T	C	17: 15,368,689	K575E	probably damaging	Het
Dnah11	A	G	12: 118,125,941	F1130S	probably damaging	Het
Dnah2	A	G	11: 69,529,469	F140L	probably damaging	Het
Dysf	T	C	6: 84,186,468	V1625A	probably damaging	Het
Evi5	T	C	5: 107,795,752	T592A	probably benign	Het
Fam46c	A	G	3: 100,472,708	L244P	probably damaging	Het
Fas	T	C	19: 34,316,643	S133P	probably damaging	Het
Gpr139	A	G	7: 119,145,204	S53P	probably benign	Het
H2-Q4	T	C	17: 35,380,435	F165L	probably benign	Het
Ighv9-2	A	G	12: 114,109,218	V45A	probably benign	Het
Inpp1	T	G	1: 52,794,547	D130A	probably benign	Het
Lin54	C	T	5: 100,480,204	V47I	probably benign	Het
Nav3	TGAAGAAGAAGAAGA	TGAAGAAGAAGA	10: 109,714,291		probably benign	Het
Nexn	T	C	3: 152,237,953	T438A	probably benign	Het
Olfr1217	A	T	2: 89,023,254	F250I	probably damaging	Het
Olfr967	T	G	9: 39,750,488	I34S	probably damaging	Het
Pilrb1	T	A	5: 137,855,053	M163L	probably benign	Het
Pkhd1	A	T	1: 20,350,411		probably null	Het
Ppard	G	A	17: 28,298,848	V297I	probably benign	Het
Rabgap1	T	C	2: 37,475,357	V214A	probably benign	Het
Serpinc1	T	C	1: 160,989,621	F95S	probably damaging	Het
Slc5a8	T	C	10: 88,906,347	Y302H	probably damaging	Het
Sptlc2	A	T	12: 87,336,055	M425K	possibly damaging	Het
Trp53bp1	A	G	2: 121,243,983	S429P	probably benign	Het
Unc13a	T	A	8: 71,652,564	T723S	probably damaging	Het
Ush2a	A	T	1: 188,821,717	I3468F	possibly damaging	Het
Utp20	A	T	10: 88,750,670	D2547E	probably benign	Het
Wnk4	A	G	11: 101,268,748	D593G	possibly damaging	Het
Zfyve26	A	G	12: 79,268,982	L1240P	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
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
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'- AGGTGCAGTATGTGTCCTCG -3'
(R):5'- CTGATTAGTCAGGCACGTCC -3'

Sequencing Primer
(F):5'- AGAACTCACTGTGCGGCTG -3'
(R):5'- ATTAGTCAGGCACGTCCCAGTC -3'

Posted On

2016-07-06