Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Slc36a3'

418864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc36a3

Ensembl Gene

ENSMUSG00000049491

Gene Name

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

Synonyms

TRAMD2, tramdorin2, PAT3

Accession Numbers

Essential gene?

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

Stock #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

55124815-55151708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55125120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 403 (S403P)

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: S403P

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

SMART Domains

Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: S403P

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

noncoding transcript
Transcript: ENSMUST00000121611

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox2	C	A	1: 58,282,759	T70K	probably benign	Het
Armt1	T	A	10: 4,439,615	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,293,367	L46S	probably damaging	Het
Baz1a	A	G	12: 54,894,958	S1488P	probably damaging	Het
Coro7	T	A	16: 4,629,126	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,890,965	R555L	probably damaging	Het
Dclk2	A	G	3: 86,836,359	C268R	probably damaging	Het
Dock7	A	T	4: 98,959,023	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,201,020	C2092*	probably null	Het
Dtx1	T	A	5: 120,694,965	Q136L	possibly damaging	Het
Egln3	C	T	12: 54,203,195		probably benign	Het
Eml5	A	T	12: 98,861,245	Y575*	probably null	Het
Entpd5	A	T	12: 84,384,248	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,415,972	F188L	probably damaging	Het
Frrs1	T	C	3: 116,881,782	S120P	probably benign	Het
Gadl1	T	C	9: 116,074,040	I479T	possibly damaging	Het
Gfra2	A	T	14: 70,968,285	M106L	probably benign	Het
Gm17455	T	A	10: 60,403,281	C108*	probably null	Het
Gm9733	G	T	3: 15,332,223		probably benign	Het
Grhpr	A	G	4: 44,983,867		probably benign	Het
Hsp90ab1	G	A	17: 45,571,523	R82C	probably damaging	Het
Igsf10	T	C	3: 59,319,484	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,872,903	I160F	probably benign	Het
Krtap5-5	A	G	7: 142,229,713	C67R	unknown	Het
Lhx4	A	T	1: 155,705,221	V186E	probably damaging	Het
Lrrk2	T	C	15: 91,747,755	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,132,055	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,320	N108K	probably damaging	Het
Mov10	G	A	3: 104,797,307	R763W	probably damaging	Het
Mto1	T	C	9: 78,449,520	S106P	probably damaging	Het
Naca	C	T	10: 128,040,364		probably benign	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr282	A	G	15: 98,438,246	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,315,663		probably benign	Het
Pold1	T	C	7: 44,540,580	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,342,130	S377T	probably benign	Het
Slc4a4	A	G	5: 89,149,372	T480A	probably damaging	Het
Slu7	G	A	11: 43,442,056	V315I	probably benign	Het
St6galnac3	T	C	3: 153,205,478	E282G	probably damaging	Het
Tlr12	A	G	4: 128,615,892	V855A	probably benign	Het
Vmn1r53	T	A	6: 90,223,962	K127*	probably null	Het
Vmn1r72	T	G	7: 11,669,885	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,446,632	Q705L	probably damaging	Het
Vps33b	C	T	7: 80,276,083	R93C	probably damaging	Het
Wdr91	T	A	6: 34,905,556	E219D	probably benign	Het
Zan	G	A	5: 137,463,500	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,340,343	K107N	probably damaging	Het
Zcchc6	T	C	13: 59,814,903	D350G	probably benign	Het
Zmym2	A	G	14: 56,950,327	E1150G	possibly damaging	Het

Other mutations in Slc36a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8929:Slc36a3	UTSW	11	55137311	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

Posted On

2016-08-02