Mutagenetix > Incidental Mutations

Incidental Mutation 'R3851:Slco4a1'

275911

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

040899-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R3851 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 180464091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 22 (T22M)

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: T22M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: T22M

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: T22M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: T22M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,390,165	W544*	probably null	Het
AY358078	A	G	14: 51,805,553	T233A	unknown	Het
Bcl9	G	A	3: 97,209,653	P575L	probably damaging	Het
Calcr	T	C	6: 3,693,735	Y353C	probably damaging	Het
Cry1	C	A	10: 85,146,499	A328S	probably benign	Het
Dclre1a	A	T	19: 56,541,507	N799K	probably damaging	Het
Dnm3	A	T	1: 162,321,127		probably null	Het
Dock9	A	T	14: 121,629,086		probably null	Het
Dpysl4	C	T	7: 139,100,935	T575M	probably damaging	Het
Drc7	C	T	8: 95,061,836	Q276*	probably null	Het
Dzip3	T	C	16: 48,950,013	T389A	possibly damaging	Het
Fam196a	A	G	7: 134,884,526	V432A	probably benign	Het
Flnc	T	A	6: 29,453,719	L1801Q	probably damaging	Het
Fmo9	A	G	1: 166,663,367	L463P	probably benign	Het
Fnip2	G	C	3: 79,462,157	H1074D	probably damaging	Het
Golga2	A	G	2: 32,305,611	E806G	probably benign	Het
H2-Q5	T	A	17: 35,394,139	M5K	unknown	Het
Il27ra	C	T	8: 84,040,688	E169K	probably benign	Het
Itpkc	A	T	7: 27,227,612	N292K	probably benign	Het
Lhfpl3	G	A	5: 22,775,987		probably benign	Het
Map4k3	A	G	17: 80,644,323		probably benign	Het
Mas1	C	G	17: 12,841,993	S181T	probably benign	Het
Ntn1	C	G	11: 68,385,793	D110H	probably damaging	Het
Nubpl	T	C	12: 52,144,027	M65T	probably damaging	Het
Olfr813	A	C	10: 129,857,147	M210L	probably benign	Het
Parp14	A	G	16: 35,853,748	I1042T	possibly damaging	Het
Pcdh15	C	A	10: 74,631,686	S1779Y	probably damaging	Het
Pgm5	C	T	19: 24,820,203	R205Q	probably damaging	Het
Radil	T	C	5: 142,506,997	D292G	probably damaging	Het
Rbp3	C	A	14: 33,955,507	H471N	probably damaging	Het
Rgs14	T	A	13: 55,379,614	L221Q	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sult2b1	G	T	7: 45,730,037		probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttn	G	T	2: 76,751,334	L23072I	possibly damaging	Het
Zfp521	T	C	18: 13,717,751		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
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
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'- AATGTTCACGCAGATAGGGG -3'
(R):5'- TTGAAGACCTGCAAGCACTTGG -3'

Sequencing Primer
(F):5'- TTCACGCAGATAGGGGAGCAG -3'
(R):5'- AGCCGCACAGTGAGTTCTG -3'

Posted On

2015-04-06