Mutagenetix > Incidental Mutation

Incidental Mutation 'R6453:Slc46a3'

520104

Institutional Source

Beutler Lab

Gene Symbol

Slc46a3

Ensembl Gene

ENSMUSG00000029650

Gene Name

solute carrier family 46, member 3

Synonyms

1200006F02Rik

MMRRC Submission

044589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147815247-147831625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147823200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 214 (I214T)

Ref Sequence

ENSEMBL: ENSMUSP00000113879 (fasta)

Gene Model

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

AlphaFold

Q9DC26

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031655
AA Change: I214T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650
AA Change: I214T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118527
AA Change: I214T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650
AA Change: I214T

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

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	C	T	17: 35,879,109 (GRCm39)	S149L	possibly damaging	Het
A830018L16Rik	A	T	1: 11,868,782 (GRCm39)	D354V	possibly damaging	Het
Acta2	G	A	19: 34,224,057 (GRCm39)	T150I	probably damaging	Het
Adgra1	T	A	7: 139,455,343 (GRCm39)	S324T	probably benign	Het
Ankrd44	A	T	1: 54,696,863 (GRCm39)		probably null	Het
B430306N03Rik	T	A	17: 48,623,764 (GRCm39)	W22R	probably damaging	Het
Ccdc162	A	T	10: 41,426,821 (GRCm39)	V2024E	probably damaging	Het
Cers6	C	T	2: 68,877,513 (GRCm39)	H164Y	probably benign	Het
Chd3	T	A	11: 69,240,938 (GRCm39)	K1458*	probably null	Het
Cimip1	A	G	2: 173,370,052 (GRCm39)	Y109C	probably benign	Het
Col3a1	G	A	1: 45,378,538 (GRCm39)		probably benign	Het
Cyb5d2	T	G	11: 72,673,586 (GRCm39)	T3P	probably benign	Het
Dennd1b	A	G	1: 139,071,686 (GRCm39)	Y468C	probably benign	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Exoc7	T	C	11: 116,184,795 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,173,042 (GRCm39)	I2557T	probably benign	Het
Flt1	T	C	5: 147,620,751 (GRCm39)	D131G	possibly damaging	Het
Frem1	G	T	4: 82,833,062 (GRCm39)	S1858*	probably null	Het
Garem1	T	A	18: 21,281,796 (GRCm39)	I187F	probably damaging	Het
Gldc	A	T	19: 30,093,917 (GRCm39)	I700N	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria2	A	G	3: 80,648,281 (GRCm39)	Y152H	possibly damaging	Het
H2-Q2	C	T	17: 35,563,871 (GRCm39)	L251F	probably benign	Het
Hectd4	G	A	5: 121,488,655 (GRCm39)	G3649R	probably damaging	Het
Hormad1	A	G	3: 95,485,568 (GRCm39)	E252G	probably benign	Het
Kif14	A	G	1: 136,410,042 (GRCm39)		probably null	Het
Lmcd1	A	G	6: 112,292,789 (GRCm39)	T214A	probably benign	Het
Macrod2	A	G	2: 142,018,545 (GRCm39)	E226G	probably damaging	Het
Mcm4	A	T	16: 15,448,273 (GRCm39)	L428Q	probably damaging	Het
Msh6	T	A	17: 88,293,167 (GRCm39)	Y641N	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nipa2	A	T	7: 55,585,569 (GRCm39)	M142K	probably damaging	Het
Or8b1c	T	C	9: 38,384,871 (GRCm39)	I276T	probably benign	Het
Parvg	A	T	15: 84,213,126 (GRCm39)	E122V	probably null	Het
Pclo	T	A	5: 14,726,803 (GRCm39)		probably benign	Het
Pik3cd	A	G	4: 149,736,759 (GRCm39)	V933A	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Qpctl	C	T	7: 18,875,222 (GRCm39)	V337I	probably damaging	Het
Qrfprl	G	A	6: 65,430,014 (GRCm39)	G237S	possibly damaging	Het
Ralgapa1	A	G	12: 55,785,104 (GRCm39)	W719R	probably damaging	Het
Rangrf	A	G	11: 68,864,378 (GRCm39)	L28P	probably damaging	Het
Rbbp9	G	T	2: 144,391,054 (GRCm39)	Q38K	probably benign	Het
Rnf169	C	T	7: 99,584,434 (GRCm39)	M246I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,082,676 (GRCm39)	D1098G	probably damaging	Het
Sgsm3	T	A	15: 80,895,515 (GRCm39)	S689T	probably damaging	Het
Slc13a3	C	T	2: 165,253,867 (GRCm39)	V429M	possibly damaging	Het
Slc30a5	A	T	13: 100,951,197 (GRCm39)	D228E	probably benign	Het
Slc7a15	T	C	12: 8,584,490 (GRCm39)	M347V	possibly damaging	Het
Slc9a2	A	T	1: 40,781,781 (GRCm39)	I337F	possibly damaging	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Speg	A	G	1: 75,394,616 (GRCm39)	N1775S	probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sptbn2	A	T	19: 4,794,208 (GRCm39)	R1471W	possibly damaging	Het
Thada	T	C	17: 84,723,751 (GRCm39)	E1101G	probably damaging	Het
Trpm6	G	A	19: 18,807,354 (GRCm39)	A1033T	probably damaging	Het
Ttll6	G	A	11: 96,049,553 (GRCm39)	R757H	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
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
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
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'- AGGGCCCAGCTCATAAAGTG -3'
(R):5'- TTGCTTCGCCTACATTGTGG -3'

Sequencing Primer
(F):5'- ATTGGGGAGATTCCGATTATCAC -3'
(R):5'- TCGCCTACATTGTGGATCAGCAG -3'

Posted On

2018-06-06