Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01745:Slco4a1'

153005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco4a1

Ensembl Gene

ENSMUSG00000038963

Gene Name

solute carrier organic anion transporter family, member 4a1

Synonyms

OATP-E, Slc21a12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01745

Quality Score

Status

Chromosome

Chromosomal Location

180098038-180116660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180106472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 218 (C218Y)

Ref Sequence

ENSEMBL: ENSMUSP00000046502 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

probably damaging
Transcript: ENSMUST00000038225
AA Change: C218Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: C218Y

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: C218Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: C218Y

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc153	T	G	9: 44,154,408 (GRCm39)	S56R	possibly damaging	Het
Chct1	A	G	11: 85,063,696 (GRCm39)	T30A	probably benign	Het
D630045J12Rik	T	C	6: 38,168,655 (GRCm39)	K965E	probably damaging	Het
F2rl1	A	G	13: 95,650,261 (GRCm39)	V207A	probably benign	Het
Matn4	A	G	2: 164,242,663 (GRCm39)	V145A	probably damaging	Het
Mllt6	T	G	11: 97,567,754 (GRCm39)	L757R	probably damaging	Het
Or2at4	A	G	7: 99,384,595 (GRCm39)	T82A	probably damaging	Het
Or5g26	T	C	2: 85,493,921 (GRCm39)	N286D	possibly damaging	Het
Or5m3b	T	A	2: 85,872,381 (GRCm39)	S241T	possibly damaging	Het
Prrc2c	A	G	1: 162,552,297 (GRCm39)	S30P	probably damaging	Het
Setd2	T	C	9: 110,423,779 (GRCm39)	V2278A	probably damaging	Het
Vps35	A	T	8: 86,000,092 (GRCm39)		probably benign	Het
Zfp593	A	G	4: 133,972,355 (GRCm39)	S82P	probably damaging	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Slco4a1	APN	2	180,114,946 (GRCm39)	missense	probably benign	0.03
IGL02297:Slco4a1	APN	2	180,106,282 (GRCm39)	missense	probably benign	0.16
IGL02368:Slco4a1	APN	2	180,114,921 (GRCm39)	missense	probably damaging	0.98
conduit	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
ingress	UTSW	2	180,107,470 (GRCm39)	missense	probably benign
R1621:Slco4a1	UTSW	2	180,112,925 (GRCm39)	missense	probably benign	0.01
R2275:Slco4a1	UTSW	2	180,106,529 (GRCm39)	missense	possibly damaging	0.94
R2472:Slco4a1	UTSW	2	180,108,880 (GRCm39)	missense	probably damaging	1.00
R3851:Slco4a1	UTSW	2	180,105,884 (GRCm39)	missense	probably benign	0.00
R3852:Slco4a1	UTSW	2	180,105,884 (GRCm39)	missense	probably benign	0.00
R4271:Slco4a1	UTSW	2	180,116,003 (GRCm39)	missense	possibly damaging	0.85
R4439:Slco4a1	UTSW	2	180,114,455 (GRCm39)	missense	probably benign	0.02
R4571:Slco4a1	UTSW	2	180,106,171 (GRCm39)	missense	probably benign	0.32
R4732:Slco4a1	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
R4733:Slco4a1	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
R4925:Slco4a1	UTSW	2	180,113,849 (GRCm39)	missense	probably benign	0.35
R5156:Slco4a1	UTSW	2	180,114,572 (GRCm39)	missense	probably benign	0.01
R5186:Slco4a1	UTSW	2	180,114,901 (GRCm39)	missense	probably damaging	1.00
R5252:Slco4a1	UTSW	2	180,106,252 (GRCm39)	missense	possibly damaging	0.48
R5426:Slco4a1	UTSW	2	180,113,028 (GRCm39)	missense	possibly damaging	0.84
R5470:Slco4a1	UTSW	2	180,115,907 (GRCm39)	missense	probably benign	0.00
R5512:Slco4a1	UTSW	2	180,115,907 (GRCm39)	missense	possibly damaging	0.91
R6969:Slco4a1	UTSW	2	180,106,601 (GRCm39)	missense	probably benign
R7133:Slco4a1	UTSW	2	180,113,856 (GRCm39)	missense	possibly damaging	0.93
R7249:Slco4a1	UTSW	2	180,106,604 (GRCm39)	missense	probably benign	0.01
R7357:Slco4a1	UTSW	2	180,113,930 (GRCm39)	missense	probably benign	0.00
R7442:Slco4a1	UTSW	2	180,115,919 (GRCm39)	missense	probably benign
R7599:Slco4a1	UTSW	2	180,113,048 (GRCm39)	missense	probably benign
R7750:Slco4a1	UTSW	2	180,113,030 (GRCm39)	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180,107,470 (GRCm39)	missense	probably benign
R8203:Slco4a1	UTSW	2	180,106,592 (GRCm39)	missense	probably damaging	0.96
R8504:Slco4a1	UTSW	2	180,106,592 (GRCm39)	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180,106,034 (GRCm39)	missense	probably benign	0.00
R9170:Slco4a1	UTSW	2	180,106,478 (GRCm39)	missense	probably benign	0.00
R9210:Slco4a1	UTSW	2	180,114,271 (GRCm39)	missense	probably damaging	1.00
R9455:Slco4a1	UTSW	2	180,115,370 (GRCm39)	missense	probably benign	0.05
R9516:Slco4a1	UTSW	2	180,115,943 (GRCm39)	missense	possibly damaging	0.93
Z1177:Slco4a1	UTSW	2	180,106,357 (GRCm39)	nonsense	probably null
Z1177:Slco4a1	UTSW	2	180,106,174 (GRCm39)	missense	possibly damaging	0.85

Posted On

2014-02-04