Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02158:Slc46a3'

282332

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc46a3

Ensembl Gene

ENSMUSG00000029650

Gene Name

solute carrier family 46, member 3

Synonyms

1200006F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

147815247-147831625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 147823044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 266 (T266N)

Ref Sequence

ENSEMBL: ENSMUSP00000113879 (fasta)

Gene Model

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

AlphaFold

Q9DC26

Predicted Effect

probably damaging
Transcript: ENSMUST00000031655
AA Change: T266N

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

SMART Domains

Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650
AA Change: T266N

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 damaging
Transcript: ENSMUST00000118527
AA Change: T266N

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

SMART Domains

Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650
AA Change: T266N

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

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,902 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,337,891 (GRCm39)		probably benign	Het
Abcb11	A	T	2: 69,130,269 (GRCm39)	S262R	probably damaging	Het
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Adam1a	A	T	5: 121,657,034 (GRCm39)	L753*	probably null	Het
Ahctf1	A	T	1: 179,607,217 (GRCm39)	I699N	possibly damaging	Het
Arl11	C	A	14: 61,548,487 (GRCm39)	A99E	probably damaging	Het
Atp5po	G	A	16: 91,727,289 (GRCm39)	R16W	probably damaging	Het
AW551984	T	C	9: 39,510,621 (GRCm39)	H238R	probably null	Het
Bpifb9a	C	A	2: 154,108,733 (GRCm39)		probably benign	Het
Carhsp1	A	G	16: 8,481,577 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,937,702 (GRCm39)	D623G	probably damaging	Het
Chd6	C	A	2: 160,868,212 (GRCm39)	R378L	possibly damaging	Het
Chn2	T	C	6: 54,277,230 (GRCm39)		probably benign	Het
Clgn	T	G	8: 84,149,765 (GRCm39)	I422S	probably damaging	Het
Col15a1	T	A	4: 47,300,606 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,556,574 (GRCm39)	I470T	probably benign	Het
Dcaf11	T	A	14: 55,801,980 (GRCm39)		probably null	Het
Dnah1	G	T	14: 31,022,924 (GRCm39)	T1071K	probably benign	Het
Dnah2	T	A	11: 69,348,949 (GRCm39)	M2513L	probably benign	Het
Dqx1	A	G	6: 83,035,891 (GRCm39)		probably benign	Het
Gm1587	T	C	14: 78,036,282 (GRCm39)	E8G	unknown	Het
Hydin	T	C	8: 111,336,598 (GRCm39)	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,625,563 (GRCm39)	P60Q	probably damaging	Het
Itga7	T	G	10: 128,789,651 (GRCm39)	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,317,416 (GRCm39)	N857S	probably damaging	Het
Krt23	C	T	11: 99,383,490 (GRCm39)		probably benign	Het
Lrp1	T	C	10: 127,390,140 (GRCm39)	N3093S	probably benign	Het
Mms22l	T	C	4: 24,505,349 (GRCm39)	F203S	probably damaging	Het
Morn5	A	G	2: 35,947,088 (GRCm39)	D122G	probably damaging	Het
Mpp2	G	T	11: 101,954,088 (GRCm39)	L220I	probably benign	Het
Mrgpra6	A	T	7: 46,835,700 (GRCm39)	Y240*	probably null	Het
Mtmr12	T	C	15: 12,238,016 (GRCm39)	I165T	probably damaging	Het
Mylk2	C	A	2: 152,761,077 (GRCm39)	N428K	probably damaging	Het
Nfil3	A	G	13: 53,122,188 (GRCm39)	Y239H	probably damaging	Het
Notch1	A	G	2: 26,350,351 (GRCm39)	L2263P	probably damaging	Het
Or2g7	T	A	17: 38,378,158 (GRCm39)	I32N	probably damaging	Het
Or8b101	A	G	9: 38,020,425 (GRCm39)	M148V	probably benign	Het
P3h3	A	T	6: 124,830,055 (GRCm39)	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,509,121 (GRCm39)	Y324*	probably null	Het
Plcb2	C	A	2: 118,541,844 (GRCm39)	R922L	probably benign	Het
Pml	T	C	9: 58,154,286 (GRCm39)	T196A	probably benign	Het
Ppp2r1b	C	A	9: 50,772,909 (GRCm39)	Q65K	probably benign	Het
Ric8a	A	G	7: 140,442,270 (GRCm39)	T507A	probably benign	Het
Sec16a	A	G	2: 26,306,644 (GRCm39)		probably null	Het
Smg1	A	G	7: 117,812,169 (GRCm39)	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,079,403 (GRCm39)	N1837K	probably benign	Het
Sptan1	A	G	2: 29,920,336 (GRCm39)	T2318A	probably damaging	Het
St7l	C	T	3: 104,782,148 (GRCm39)	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,137,434 (GRCm39)	R703C	probably damaging	Het
Urah	A	G	7: 140,416,799 (GRCm39)		probably benign	Het
Vmn1r42	A	T	6: 89,822,296 (GRCm39)	I91N	probably damaging	Het
Yy1	T	A	12: 108,780,525 (GRCm39)		probably benign	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
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
R4619:Slc46a3	UTSW	5	147,823,540 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16