Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Slc36a3'

679757

Institutional Source

Beutler Lab

Gene Symbol

Slc36a3

Ensembl Gene

ENSMUSG00000049491

Gene Name

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

Synonyms

TRAMD2, tramdorin2, PAT3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55124815-55151708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55137311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 164 (F164S)

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: F164S

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

SMART Domains

Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: F164S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 180,172,937	K99E	unknown	Het
Agxt2	C	A	15: 10,393,744	L375I	probably benign	Het
Akap13	T	C	7: 75,609,004	S459P	probably benign	Het
Arfgef3	T	A	10: 18,603,455	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,493,756		probably benign	Het
Azi2	C	A	9: 118,049,976	T141K	probably damaging	Het
B4galt6	A	G	18: 20,688,365	S369P	possibly damaging	Het
BC051019	C	T	7: 109,716,026	E341K	probably damaging	Het
Bdh1	G	A	16: 31,456,894	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 106,666,238		probably benign	Het
Cdipt	T	G	7: 126,979,653	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,069,769		probably null	Het
Clip4	T	C	17: 71,831,208	L467S	probably damaging	Het
Cndp2	A	G	18: 84,675,173	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,658,740	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,309,749	I100F	probably benign	Het
Dppa5a	A	G	9: 78,367,883	S46P	probably benign	Het
Epyc	A	G	10: 97,675,745	D200G	probably benign	Het
Ern2	C	T	7: 122,170,140	A888T	probably benign	Het
Fndc3b	C	T	3: 27,542,104	S112N	probably damaging	Het
Fras1	T	C	5: 96,769,507	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,707,831	I733T	probably damaging	Het
Gdf3	C	T	6: 122,609,797	R57Q		Het
Grwd1	A	T	7: 45,830,632	D50E	probably damaging	Het
Hgf	G	T	5: 16,593,990	D339Y	probably benign	Het
Kat7	T	C	11: 95,306,156	D19G	probably damaging	Het
Lefty1	A	G	1: 180,937,725	E286G	probably damaging	Het
Lrriq3	T	C	3: 155,188,182	F507L	probably damaging	Het
Mcm4	T	A	16: 15,630,425	T423S	probably benign	Het
Metap1	T	C	3: 138,468,882	K247E	probably benign	Het
Muc4	T	G	16: 32,753,994	I1290S	probably benign	Het
Muc4	A	T	16: 32,754,017	T1298S	possibly damaging	Het
Nars	G	T	18: 64,511,824	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,452,363	E1121V	probably damaging	Het
Nebl	C	A	2: 17,393,180	E481*	probably null	Het
Pdap1	T	C	5: 145,132,862	E111G	probably damaging	Het
Pds5b	T	C	5: 150,719,914	F67S	probably damaging	Het
Pole	T	C	5: 110,297,788	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,689,137	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,667,548	M887K	probably damaging	Het
Sec24b	T	C	3: 130,009,858	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,647,367		probably benign	Het
Slain1	A	T	14: 103,685,728	T252S	probably damaging	Het
Slc39a7	T	C	17: 34,030,990	H90R	unknown	Het
Slc44a4	A	T	17: 34,917,532	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,170,783	T340A	probably benign	Het
Sod2	C	A	17: 13,015,087	N195K	probably damaging	Het
Spg20	T	C	3: 55,128,558	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,375,602	A266V	probably benign	Het
Tbx15	T	A	3: 99,314,903	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,728,832	V26A	probably benign	Het
Trank1	T	A	9: 111,378,935	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,410		probably benign	Het
Ttn	A	T	2: 76,876,580	I9089N	unknown	Het
Unc13a	T	C	8: 71,651,191	T866A	probably benign	Het
Vmn1r212	T	A	13: 22,883,324	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,396,707	T847A	probably benign	Het
Zcchc6	A	G	13: 59,800,128	V793A	probably benign	Het
Zer1	A	G	2: 30,110,869	L180P	probably damaging	Het
Zfp445	T	G	9: 122,853,667	Y403S	probably benign	Het

Other mutations in Slc36a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03104:Slc36a3	APN	11	55125120	missense	probably damaging	1.00
IGL03241:Slc36a3	APN	11	55125108	missense	possibly damaging	0.95
R0632:Slc36a3	UTSW	11	55125080	missense	probably damaging	1.00
R1117:Slc36a3	UTSW	11	55146180	missense	possibly damaging	0.78
R1549:Slc36a3	UTSW	11	55142770	missense	probably damaging	1.00
R3423:Slc36a3	UTSW	11	55142781	missense	probably benign	0.00
R3425:Slc36a3	UTSW	11	55142781	missense	probably benign	0.00
R3791:Slc36a3	UTSW	11	55125156	missense	possibly damaging	0.95
R3980:Slc36a3	UTSW	11	55135383	missense	probably benign
R4970:Slc36a3	UTSW	11	55148573	missense	probably damaging	1.00
R4973:Slc36a3	UTSW	11	55146804	splice site	probably benign
R4986:Slc36a3	UTSW	11	55146766	makesense	probably null
R5112:Slc36a3	UTSW	11	55148573	missense	probably damaging	1.00
R5399:Slc36a3	UTSW	11	55146180	missense	possibly damaging	0.78
R5534:Slc36a3	UTSW	11	55142769	missense	possibly damaging	0.83
R5580:Slc36a3	UTSW	11	55135453	missense	probably benign	0.14
R5682:Slc36a3	UTSW	11	55125663	missense	probably benign	0.00
R5779:Slc36a3	UTSW	11	55135268	nonsense	probably null
R5841:Slc36a3	UTSW	11	55125721	nonsense	probably null
R6228:Slc36a3	UTSW	11	55124951	missense	probably benign	0.01
R6483:Slc36a3	UTSW	11	55135263	missense	probably benign	0.01
R6908:Slc36a3	UTSW	11	55149886	intron	probably benign
R6927:Slc36a3	UTSW	11	55129693	missense	probably damaging	0.98
R7828:Slc36a3	UTSW	11	55151198	missense	probably benign	0.00
R7995:Slc36a3	UTSW	11	55129669	missense	probably benign	0.04
R8212:Slc36a3	UTSW	11	55125081	missense	probably damaging	1.00
R8238:Slc36a3	UTSW	11	55131607	missense	probably benign	0.05
R8239:Slc36a3	UTSW	11	55131607	missense	probably benign	0.05
R8329:Slc36a3	UTSW	11	55148583	missense	probably damaging	1.00
R9034:Slc36a3	UTSW	11	55125689	missense	probably damaging	0.99
R9489:Slc36a3	UTSW	11	55149900	missense	unknown
R9506:Slc36a3	UTSW	11	55148631	missense	probably benign	0.14
R9661:Slc36a3	UTSW	11	55125158	missense	probably benign	0.00
R9696:Slc36a3	UTSW	11	55135335	missense	possibly damaging	0.52
R9735:Slc36a3	UTSW	11	55135278	missense	probably damaging	1.00
Z1177:Slc36a3	UTSW	11	55135452	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GATGTGACAACTTGAGATGCTTTCC -3'
(R):5'- TCTGTGGGTCAGACATTTCTC -3'

Sequencing Primer
(F):5'- CTTGAGATGCTTTCCAGCCTAAAGG -3'
(R):5'- GAGCACTGACTGTTCTTCCAAAGG -3'

Posted On

2021-08-02