Mutagenetix > Incidental Mutation

Incidental Mutation 'R1549:Slc36a3'

169793

Institutional Source

Beutler Lab

Gene Symbol

Slc36a3

Ensembl Gene

ENSMUSG00000049491

Gene Name

solute carrier family 36 (proton/amino acid symporter), member 3

Synonyms

TRAMD2, PAT3, tramdorin2

MMRRC Submission

039588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1549 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55015641-55042534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55033596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 141 (W141R)

Ref Sequence

ENSEMBL: ENSMUSP00000020502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020502] [ENSMUST00000128244]

AlphaFold

Q811P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020502
AA Change: W141R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: W141R

Domain	Start	End	E-Value	Type
low complexity region	19	44	N/A	INTRINSIC
Pfam:Aa_trans	50	459	7.2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128244

SMART Domains

Protein: ENSMUSP00000116073
Gene: ENSMUSG00000049491

Domain	Start	End	E-Value	Type
low complexity region	19	44	N/A	INTRINSIC
Pfam:Aa_trans	50	87	2.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155883

Meta Mutation Damage Score

0.5953

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,441 (GRCm39)	I157K	probably benign	Het
Ank3	A	T	10: 69,837,812 (GRCm39)	N727Y	probably benign	Het
Atg16l1	A	G	1: 87,701,910 (GRCm39)	T251A	probably benign	Het
Bcl11b	T	A	12: 107,883,422 (GRCm39)	I226F	probably damaging	Het
Birc6	A	G	17: 74,969,737 (GRCm39)	H4260R	probably damaging	Het
Camta1	A	G	4: 151,670,920 (GRCm39)	I85T	probably damaging	Het
Cblb	A	G	16: 51,853,373 (GRCm39)		probably benign	Het
Ccnd1	T	G	7: 144,491,073 (GRCm39)	I178L	probably benign	Het
Clcn4	A	G	7: 7,294,681 (GRCm39)	V329A	probably damaging	Het
Col17a1	C	T	19: 47,637,349 (GRCm39)		probably benign	Het
Col7a1	A	G	9: 108,785,034 (GRCm39)	T254A	unknown	Het
Ctif	C	A	18: 75,698,096 (GRCm39)	R188L	probably damaging	Het
Cyp2c69	A	T	19: 39,831,430 (GRCm39)	L461Q	probably benign	Het
Ddc	A	G	11: 11,796,656 (GRCm39)		probably null	Het
Dpp10	T	A	1: 123,269,109 (GRCm39)		probably null	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Eif2b4	T	C	5: 31,350,265 (GRCm39)	E19G	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galnt14	A	G	17: 73,832,308 (GRCm39)	L269P	possibly damaging	Het
Gm2381	T	A	7: 42,471,825 (GRCm39)	H18L	probably benign	Het
Gpbp1	G	T	13: 111,573,113 (GRCm39)	D326E	probably benign	Het
Gpr162	C	T	6: 124,837,051 (GRCm39)	R331H	probably damaging	Het
Iigp1	G	A	18: 60,522,948 (GRCm39)	G22D	probably benign	Het
Kcns3	T	C	12: 11,142,084 (GRCm39)	H205R	probably damaging	Het
Klk1b26	C	T	7: 43,665,826 (GRCm39)		probably benign	Het
Lime1	A	G	2: 181,025,169 (GRCm39)	Y242C	probably benign	Het
Manba	A	G	3: 135,250,567 (GRCm39)	D398G	probably damaging	Het
Mapk3	A	T	7: 126,362,684 (GRCm39)	K219*	probably null	Het
Mdfic	G	T	6: 15,799,844 (GRCm39)	G324C	probably damaging	Het
Mdga1	G	A	17: 30,056,972 (GRCm39)	H837Y	probably damaging	Het
Nck1	T	A	9: 100,379,925 (GRCm39)	M109L	probably benign	Het
Or1d2	A	G	11: 74,256,076 (GRCm39)	I194V	probably benign	Het
Or2w1b	T	C	13: 21,300,288 (GRCm39)	V142A	probably benign	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Phf3	C	T	1: 30,843,923 (GRCm39)	V1679I	probably benign	Het
Pou4f1	T	C	14: 104,705,076 (GRCm39)	I32V	probably benign	Het
Pspc1	T	G	14: 56,986,398 (GRCm39)	H351P	probably damaging	Het
Ptk7	T	C	17: 46,883,578 (GRCm39)	E829G	probably damaging	Het
Rab23	A	G	1: 33,777,378 (GRCm39)	Y164C	possibly damaging	Het
Slc7a14	T	C	3: 31,278,267 (GRCm39)	E446G	possibly damaging	Het
Stim2	G	A	5: 54,262,667 (GRCm39)	R303Q	probably damaging	Het
Tbcd	A	G	11: 121,451,579 (GRCm39)	I550V	probably benign	Het
Tmed3	A	C	9: 89,581,998 (GRCm39)	L155R	probably damaging	Het
Trav16d-dv11	A	G	14: 53,284,799 (GRCm39)		probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp16	G	T	16: 87,261,722 (GRCm39)	V113F	probably damaging	Het
Vmn2r12	T	G	5: 109,240,696 (GRCm39)	Y139S	probably benign	Het
Vmn2r5	G	T	3: 64,411,421 (GRCm39)	D382E	probably damaging	Het
Zfp1010	T	C	2: 176,957,378 (GRCm39)	E40G	probably damaging	Het
Zfp217	A	C	2: 169,956,390 (GRCm39)	N869K	probably benign	Het
Zswim2	G	T	2: 83,754,092 (GRCm39)	D189E	probably benign	Het

Other mutations in Slc36a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03104:Slc36a3	APN	11	55,015,946 (GRCm39)	missense	probably damaging	1.00
IGL03241:Slc36a3	APN	11	55,015,934 (GRCm39)	missense	possibly damaging	0.95
R0632:Slc36a3	UTSW	11	55,015,906 (GRCm39)	missense	probably damaging	1.00
R1117:Slc36a3	UTSW	11	55,037,006 (GRCm39)	missense	possibly damaging	0.78
R3423:Slc36a3	UTSW	11	55,033,607 (GRCm39)	missense	probably benign	0.00
R3425:Slc36a3	UTSW	11	55,033,607 (GRCm39)	missense	probably benign	0.00
R3791:Slc36a3	UTSW	11	55,015,982 (GRCm39)	missense	possibly damaging	0.95
R3980:Slc36a3	UTSW	11	55,026,209 (GRCm39)	missense	probably benign
R4970:Slc36a3	UTSW	11	55,039,399 (GRCm39)	missense	probably damaging	1.00
R4973:Slc36a3	UTSW	11	55,037,630 (GRCm39)	splice site	probably benign
R4986:Slc36a3	UTSW	11	55,037,592 (GRCm39)	makesense	probably null
R5112:Slc36a3	UTSW	11	55,039,399 (GRCm39)	missense	probably damaging	1.00
R5399:Slc36a3	UTSW	11	55,037,006 (GRCm39)	missense	possibly damaging	0.78
R5534:Slc36a3	UTSW	11	55,033,595 (GRCm39)	missense	possibly damaging	0.83
R5580:Slc36a3	UTSW	11	55,026,279 (GRCm39)	missense	probably benign	0.14
R5682:Slc36a3	UTSW	11	55,016,489 (GRCm39)	missense	probably benign	0.00
R5779:Slc36a3	UTSW	11	55,026,094 (GRCm39)	nonsense	probably null
R5841:Slc36a3	UTSW	11	55,016,547 (GRCm39)	nonsense	probably null
R6228:Slc36a3	UTSW	11	55,015,777 (GRCm39)	missense	probably benign	0.01
R6483:Slc36a3	UTSW	11	55,026,089 (GRCm39)	missense	probably benign	0.01
R6908:Slc36a3	UTSW	11	55,040,712 (GRCm39)	intron	probably benign
R6927:Slc36a3	UTSW	11	55,020,519 (GRCm39)	missense	probably damaging	0.98
R7828:Slc36a3	UTSW	11	55,042,024 (GRCm39)	missense	probably benign	0.00
R7995:Slc36a3	UTSW	11	55,020,495 (GRCm39)	missense	probably benign	0.04
R8212:Slc36a3	UTSW	11	55,015,907 (GRCm39)	missense	probably damaging	1.00
R8238:Slc36a3	UTSW	11	55,022,433 (GRCm39)	missense	probably benign	0.05
R8239:Slc36a3	UTSW	11	55,022,433 (GRCm39)	missense	probably benign	0.05
R8329:Slc36a3	UTSW	11	55,039,409 (GRCm39)	missense	probably damaging	1.00
R8929:Slc36a3	UTSW	11	55,028,137 (GRCm39)	missense	probably damaging	1.00
R9034:Slc36a3	UTSW	11	55,016,515 (GRCm39)	missense	probably damaging	0.99
R9489:Slc36a3	UTSW	11	55,040,726 (GRCm39)	missense	unknown
R9506:Slc36a3	UTSW	11	55,039,457 (GRCm39)	missense	probably benign	0.14
R9661:Slc36a3	UTSW	11	55,015,984 (GRCm39)	missense	probably benign	0.00
R9696:Slc36a3	UTSW	11	55,026,161 (GRCm39)	missense	possibly damaging	0.52
R9735:Slc36a3	UTSW	11	55,026,104 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc36a3	UTSW	11	55,026,278 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCACCTTAGGTAGTTCAAGGTCACC -3'
(R):5'- CGCATACTGTGCCTTCAGCAAGAG -3'

Sequencing Primer
(F):5'- gttcagttcccagcaccc -3'
(R):5'- GCCTTCAGCAAGAGTGTTTTAAC -3'

Posted On

2014-04-13