Mutagenetix > Incidental Mutation

Incidental Mutation 'R3425:Slc36a3'

271729

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

040643-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R3425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55124815-55151708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55142781 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 137 (T137K)

Ref Sequence

ENSEMBL: ENSMUSP00000020502 (fasta)

Gene Model

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

AlphaFold

Q811P0

Predicted Effect

probably benign
Transcript: ENSMUST00000020502
AA Change: T137K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: T137K

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	A	G	14: 49,073,683	E70G	probably damaging	Het
Atp8b3	T	C	10: 80,536,347	E16G	probably benign	Het
Csmd3	A	T	15: 47,847,252	D1646E	probably damaging	Het
Cyp2c70	G	T	19: 40,184,024	A58E	probably damaging	Het
Ddx11	T	C	17: 66,139,439	I415T	possibly damaging	Het
Gm8674	T	A	13: 49,901,756		noncoding transcript	Het
H2-T22	A	C	17: 36,041,580	L151R	probably damaging	Het
Hmgcs1	C	A	13: 119,705,132	P420Q	probably damaging	Het
Il16	T	C	7: 83,644,040	E575G	probably damaging	Het
Ism2	T	C	12: 87,287,097	N58S	probably benign	Het
Kat7	T	C	11: 95,303,165	E103G	probably damaging	Het
Klf15	T	C	6: 90,466,820	S126P	probably benign	Het
Mapt	C	T	11: 104,298,722	R189*	probably null	Het
Meltf	C	T	16: 31,896,525	R679*	probably null	Het
Myo1d	T	C	11: 80,601,638	T764A	probably benign	Het
Mypn	T	C	10: 63,118,417		probably benign	Het
Olfr1098	C	T	2: 86,922,606	E309K	probably benign	Het
Olfr1453	G	C	19: 13,028,047	A94G	probably benign	Het
Ptpn4	T	C	1: 119,707,830	D381G	probably benign	Het
Ros1	C	A	10: 52,128,416		probably null	Het
Scel	T	G	14: 103,608,106	V559G	possibly damaging	Het
Sez6l	T	C	5: 112,426,749	D875G	probably damaging	Het
Slc18b1	T	G	10: 23,822,976	M348R	probably damaging	Het
Slco4c1	A	T	1: 96,841,251	S295R	probably benign	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmprss15	A	T	16: 79,003,433	N587K	possibly damaging	Het
Upp1	T	C	11: 9,125,700		probably null	Het
Zp1	G	A	19: 10,918,592	R227W	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
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

Predicted Primers

PCR Primer
(F):5'- GTGGGGAGATACTCTATCTTGC -3'
(R):5'- GGTGTCCTTATTAGAGAGTGCAC -3'

Sequencing Primer
(F):5'- CCTAGCGGAACTTGCAGTCATATG -3'
(R):5'- GTCCTTATTAGAGAGTGCACAGAAC -3'

Posted On

2015-03-25