Mutagenetix > Incidental Mutations

Incidental Mutation 'R1621:Slco4a1'

174649

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

039658-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R1621 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180471132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 386 (T386S)

Ref Sequence

ENSEMBL: ENSMUSP00000046502 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

probably benign
Transcript: ENSMUST00000038225
AA Change: T386S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: T386S

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: T386S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: T386S

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: 98.9%
3x: 97.8%
10x: 94.0%
20x: 84.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,565,779	N253S	probably benign	Het
Adamts3	G	A	5: 89,721,701	H272Y	probably damaging	Het
Arpc5l	T	C	2: 39,013,901		probably null	Het
Birc6	G	A	17: 74,670,250	V4333I	probably benign	Het
Cd38	A	G	5: 43,901,524	D160G	probably benign	Het
Cdc7	A	G	5: 106,965,054	S13G	probably benign	Het
Chrm5	G	T	2: 112,479,837	D311E	probably benign	Het
Ctns	A	G	11: 73,188,472	V140A	possibly damaging	Het
Ets2	A	G	16: 95,709,869	D57G	probably damaging	Het
Fbxo36	T	A	1: 84,839,874	M1K	probably null	Het
Fhod3	T	A	18: 25,022,867	I514K	probably benign	Het
G3bp2	A	T	5: 92,056,278	F350I	probably damaging	Het
Hs3st3a1	G	T	11: 64,436,223	V53F	probably benign	Het
Ippk	T	C	13: 49,461,568	S427P	probably benign	Het
Irgm2	T	C	11: 58,220,538	F364L	probably benign	Het
Lipn	A	G	19: 34,068,713	K29E	probably benign	Het
Map3k11	A	G	19: 5,690,806	E187G	probably damaging	Het
Nrxn3	A	G	12: 88,795,710	M176V	probably benign	Het
Olfr373	A	G	8: 72,100,129	Y123C	probably damaging	Het
Palm3	G	A	8: 84,030,022	S721N	possibly damaging	Het
Plxnb1	A	G	9: 109,106,805	I1088V	probably benign	Het
Pmfbp1	A	G	8: 109,499,538	H69R	probably benign	Het
Pou2af1	C	T	9: 51,232,860	H54Y	probably damaging	Het
Prl6a1	C	T	13: 27,318,010	T120I	probably benign	Het
Psen2	A	T	1: 180,229,465	F331L	probably benign	Het
Pygl	T	C	12: 70,191,092	D724G	probably damaging	Het
Slc25a48	T	A	13: 56,470,470	*307R	probably null	Het
Slc39a6	T	C	18: 24,600,889	K248E	probably benign	Het
Snx7	T	C	3: 117,837,156	I185V	possibly damaging	Het
Tmem94	A	G	11: 115,785,845	S59G	probably benign	Het
Top3a	A	T	11: 60,750,607	I392N	probably damaging	Het
Utp20	A	G	10: 88,762,871	I81T	probably benign	Het
Utrn	A	G	10: 12,713,283	L893S	probably benign	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
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
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
Z1177:Slco4a1	UTSW	2	180464381	missense	possibly damaging	0.85
Z1177:Slco4a1	UTSW	2	180464564	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATCGGCCACAGCAGTGACATAG -3'
(R):5'- AATGCTCAGGGTCTCCTTACCGAAC -3'

Sequencing Primer
(F):5'- AGTGGGGCCATTAATTCACTACC -3'
(R):5'- CTTACCGAACAGGGTGGCAG -3'

Posted On

2014-04-24