Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Slc46a3'

345162

Institutional Source

Beutler Lab

Gene Symbol

Slc46a3

Ensembl Gene

ENSMUSG00000029650

Gene Name

solute carrier family 46, member 3

Synonyms

1200006F02Rik

MMRRC Submission

041885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147815247-147831625 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 147823540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 101 (K101*)

Ref Sequence

ENSEMBL: ENSMUSP00000113879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031655] [ENSMUST00000118527]

AlphaFold

Q9DC26

Predicted Effect

probably null
Transcript: ENSMUST00000031655
AA Change: K101*

SMART Domains

Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650
AA Change: K101*

Domain	Start	End	E-Value	Type
Pfam:MFS_1	8	400	4.3e-15	PFAM
transmembrane domain	411	433	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118527
AA Change: K101*

SMART Domains

Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650
AA Change: K101*

Domain	Start	End	E-Value	Type
Pfam:MFS_1	8	400	5.5e-15	PFAM
transmembrane domain	411	433	N/A	INTRINSIC

Meta Mutation Damage Score

0.9704

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Insyn2a	A	G	7: 134,520,270 (GRCm39)	Y87H	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mipep	T	C	14: 61,140,865 (GRCm39)	C566R	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,711,743 (GRCm39)	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Snph	G	A	2: 151,436,434 (GRCm39)	Q96*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Taf1a	T	A	1: 183,181,752 (GRCm39)		probably benign	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp558	T	A	9: 18,367,577 (GRCm39)	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	probably damaging	Het

Other mutations in Slc46a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Slc46a3	APN	5	147,823,108 (GRCm39)	missense	probably benign	0.00
IGL02158:Slc46a3	APN	5	147,823,044 (GRCm39)	missense	probably damaging	1.00
IGL02821:Slc46a3	APN	5	147,822,822 (GRCm39)	missense	probably benign	0.00
R1990:Slc46a3	UTSW	5	147,823,404 (GRCm39)	missense	probably damaging	1.00
R2125:Slc46a3	UTSW	5	147,815,954 (GRCm39)	missense	probably benign	0.05
R3904:Slc46a3	UTSW	5	147,823,264 (GRCm39)	missense	probably benign	0.21
R5151:Slc46a3	UTSW	5	147,823,566 (GRCm39)	missense	probably damaging	1.00
R5740:Slc46a3	UTSW	5	147,816,643 (GRCm39)	nonsense	probably null
R5843:Slc46a3	UTSW	5	147,823,021 (GRCm39)	missense	probably benign
R5933:Slc46a3	UTSW	5	147,830,700 (GRCm39)	missense	probably benign	0.03
R6453:Slc46a3	UTSW	5	147,823,200 (GRCm39)	missense	possibly damaging	0.89
R6852:Slc46a3	UTSW	5	147,822,970 (GRCm39)	missense	probably damaging	1.00
R6954:Slc46a3	UTSW	5	147,823,150 (GRCm39)	missense	probably benign	0.01
R8478:Slc46a3	UTSW	5	147,815,963 (GRCm39)	missense	probably benign	0.02
R9707:Slc46a3	UTSW	5	147,821,022 (GRCm39)	missense	probably benign	0.21
R9759:Slc46a3	UTSW	5	147,823,234 (GRCm39)	missense	probably benign
Z1177:Slc46a3	UTSW	5	147,823,420 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTGCTGATCCACAATGTAGGCG -3'
(R):5'- AATCGGCACCGTTTCCTCAC -3'

Sequencing Primer
(F):5'- GAAGCAAGCTCCCCAGAACG -3'
(R):5'- GTTTCCTCACATACCCGGGG -3'

Posted On

2015-09-25