Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02297:Slco4a1'

290205

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: 0.078) question?

Stock #

IGL02297

Quality Score

Status

Chromosome

Chromosomal Location

180098038-180116660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 180106282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 155 (C155G)

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: C155G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: C155G

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: C155G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: C155G

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aifm2	C	T	10: 61,571,327 (GRCm39)	A287V	possibly damaging	Het
Aqr	A	G	2: 113,980,962 (GRCm39)	I273T	probably benign	Het
Arid3c	T	C	4: 41,730,021 (GRCm39)	E58G	possibly damaging	Het
Col5a3	G	T	9: 20,683,450 (GRCm39)	T1574K	unknown	Het
Dbh	T	C	2: 27,067,748 (GRCm39)	V457A	probably benign	Het
Gm12888	T	C	4: 121,181,996 (GRCm39)	E32G	probably damaging	Het
Gnaq	A	G	19: 16,355,615 (GRCm39)	D277G	probably damaging	Het
Il20	G	A	1: 130,836,145 (GRCm39)	H133Y	probably damaging	Het
Itpr1	T	A	6: 108,316,478 (GRCm39)	F58L	possibly damaging	Het
Lynx1	G	T	15: 74,623,491 (GRCm39)	Q19K	probably benign	Het
Lyst	G	T	13: 13,812,677 (GRCm39)	E1030*	probably null	Het
Matn1	T	A	4: 130,679,575 (GRCm39)		probably benign	Het
Nav2	A	T	7: 49,243,977 (GRCm39)	N2068I	probably damaging	Het
Or5b3	C	T	19: 13,388,839 (GRCm39)	T302I	probably benign	Het
Or8g30	T	C	9: 39,229,999 (GRCm39)	I304V	possibly damaging	Het
Slc25a23	G	T	17: 57,360,324 (GRCm39)	Q273K	probably benign	Het
Txnip	T	C	3: 96,465,673 (GRCm39)	V41A	probably damaging	Het
Wnt16	C	A	6: 22,297,990 (GRCm39)	Y285*	probably null	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Slco4a1	APN	2	180,106,472 (GRCm39)	missense	probably damaging	1.00
IGL01982:Slco4a1	APN	2	180,114,946 (GRCm39)	missense	probably benign	0.03
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

2015-04-16