Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Slc36a3'

644273

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 #

R8329 (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 55148583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 73 (L73P)

Ref Sequence

ENSEMBL: ENSMUSP00000020502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020502] [ENSMUST00000069816] [ENSMUST00000128244]

AlphaFold

Q811P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020502
AA Change: L73P

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

SMART Domains

Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: L73P

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: ENSMUST00000069816

SMART Domains

Protein: ENSMUSP00000064960
Gene: ENSMUSG00000049491

Domain	Start	End	E-Value	Type
low complexity region	19	44	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128244
AA Change: L73P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116073
Gene: ENSMUSG00000049491
AA Change: L73P

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,543,741		probably null	Het
Ackr4	A	G	9: 104,099,461	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376	I596T	possibly damaging	Het
Aff3	G	A	1: 38,205,054	R879W	probably benign	Het
Apob	A	G	12: 8,011,135	R3206G	probably damaging	Het
Atg7	T	A	6: 114,686,096	D224E	possibly damaging	Het
Capn12	T	C	7: 28,883,201	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,229,037	V224G	probably damaging	Het
Ces4a	G	A	8: 105,148,082	V452I	probably damaging	Het
Cherp	G	A	8: 72,462,008	R834C		Het
Clptm1l	T	A	13: 73,612,428	I310N	probably damaging	Het
Cog3	A	T	14: 75,740,563	D230E	probably damaging	Het
Crb1	T	A	1: 139,237,267	I1101F	probably damaging	Het
Cts6	A	T	13: 61,195,468	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,186,462	C435*	probably null	Het
Defb13	A	G	8: 21,948,546	E40G	probably benign	Het
Dis3l	T	C	9: 64,311,830	D606G	possibly damaging	Het
Dopey2	T	C	16: 93,771,787	L1579P	probably damaging	Het
Foxa3	A	G	7: 19,014,184	V339A	probably benign	Het
Gcn1l1	G	A	5: 115,609,862	G1776E	probably damaging	Het
Gls2	A	G	10: 128,201,285	T232A	probably benign	Het
Gm853	C	T	4: 130,215,363	V295M	possibly damaging	Het
Gprc6a	A	T	10: 51,627,259	Y169*	probably null	Het
Guca2b	T	C	4: 119,658,804	S18G	unknown	Het
Hars2	A	G	18: 36,789,235	D301G	possibly damaging	Het
Haus5	T	A	7: 30,659,559	Q226L	possibly damaging	Het
Hc	G	A	2: 35,012,898		probably null	Het
Hivep2	T	C	10: 14,128,267	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,991,111	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,668,317	R3L	probably benign	Het
Hspa8	T	G	9: 40,802,601	I130S	probably damaging	Het
Ier5l	C	A	2: 30,472,849	C388F	possibly damaging	Het
Lmx1a	A	G	1: 167,689,803	N10S	probably benign	Het
Map2	T	C	1: 66,415,113	I1054T	probably benign	Het
Me1	C	T	9: 86,619,737	D268N	probably damaging	Het
Muc6	G	A	7: 141,640,258	P1501S	unknown	Het
Myo1d	T	C	11: 80,638,074	M641V	probably benign	Het
Nuggc	G	A	14: 65,641,282	R667K	probably benign	Het
Olfr62	A	C	4: 118,666,407	N297H	probably damaging	Het
Olfr742	T	C	14: 50,515,558	F118S	probably damaging	Het
Oprl1	T	A	2: 181,718,924	C231S	probably damaging	Het
Pard3b	C	A	1: 62,637,798	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,418,048	Y158C	probably damaging	Het
Prune2	T	G	19: 17,121,265	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,884,540	T158K	probably damaging	Het
Rbm42	T	A	7: 30,645,157	E227V	unknown	Het
Ripor3	T	C	2: 167,983,199	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,662,510	H3764L	possibly damaging	Het
Sbno2	T	C	10: 80,064,387	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,535,964	V396A	probably damaging	Het
Spag16	T	C	1: 69,895,248	I278T	probably benign	Het
Stx18	T	A	5: 38,128,106	L274*	probably null	Het
Terb1	A	T	8: 104,484,371	N341K	probably damaging	Het
Timm29	A	G	9: 21,593,705	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,568,465	M370L	probably benign	Het
Tmtc3	T	A	10: 100,447,434	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,833	C699*	probably null	Het
Trav5d-4	G	A	14: 53,001,751	W13*	probably null	Het
Trdn	A	G	10: 33,444,078		probably null	Het
Tsg101	A	T	7: 46,909,060	Y68N	probably damaging	Het
Ttn	A	G	2: 76,833,718	V11649A	unknown	Het
Wnk2	A	T	13: 49,095,438	V379D	probably damaging	Het
Xpnpep1	A	G	19: 53,002,472		probably null	Het
Yme1l1	C	T	2: 23,164,585	Q139*	probably null	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
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'- AGTGCTCAGTATGCTTCCTGG -3'
(R):5'- AGTCACAGAGCTGGTTCTCTC -3'

Sequencing Primer
(F):5'- CTTCCTGGTTGGTTCTAAGAAAC -3'
(R):5'- TTCCCAACAAGTGTACTCGC -3'

Posted On

2020-09-02