Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Slc16a10'

544353

Institutional Source

Beutler Lab

Gene Symbol

Slc16a10

Ensembl Gene

ENSMUSG00000019838

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 10

Synonyms

Mct10, 2610103N14Rik, TAT1, PRO0813

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40033532-40142258 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40056503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 354 (K354R)

Ref Sequence

ENSEMBL: ENSMUSP00000090227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092566]

AlphaFold

Q3U9N9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092566
AA Change: K354R

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090227
Gene: ENSMUSG00000019838
AA Change: K354R

Domain	Start	End	E-Value	Type
Pfam:MFS_1	66	320	1.1e-13	PFAM
Pfam:MFS_4	269	464	4.3e-11	PFAM
Pfam:MFS_1	291	507	4.3e-18	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for an ENU-induced null allele exhibit altered amino acid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,162,710	R620G	probably benign	Het
Adcy1	A	C	11: 7,079,026	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,770,915	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613	I164V	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Garem2	T	C	5: 30,114,170	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690	G124D	probably benign	Het
Luzp1	T	C	4: 136,543,444	S993P	probably damaging	Het
Maml2	C	T	9: 13,621,185		probably benign	Het
Mbtd1	A	T	11: 93,924,612	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433	Y127F	probably benign	Het
Pcsk5	T	C	19: 17,473,112	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pik3c2b	T	G	1: 133,102,372	I1457S	probably benign	Het
Pole2	T	C	12: 69,213,906	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,618,505	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321	T49S	probably damaging	Het
Slc6a6	C	A	6: 91,752,438	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002	I99N	possibly damaging	Het

Other mutations in Slc16a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Slc16a10	APN	10	40076925	missense	probably damaging	1.00
R0030:Slc16a10	UTSW	10	40076823	missense	probably benign	0.04
R0196:Slc16a10	UTSW	10	40056615	missense	probably benign	0.01
R0200:Slc16a10	UTSW	10	40040616	missense	probably benign	0.37
R0418:Slc16a10	UTSW	10	40040631	nonsense	probably null
R0463:Slc16a10	UTSW	10	40040616	missense	probably benign	0.37
R0599:Slc16a10	UTSW	10	40141918	missense	probably benign
R1162:Slc16a10	UTSW	10	40076553	missense	probably benign	0.00
R1554:Slc16a10	UTSW	10	40076800	missense	probably benign	0.00
R1901:Slc16a10	UTSW	10	40056606	nonsense	probably null
R3622:Slc16a10	UTSW	10	40141894	missense	probably benign
R3624:Slc16a10	UTSW	10	40141894	missense	probably benign
R3717:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R3719:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R3729:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R3730:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R3731:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R3801:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R3803:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R3804:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R4037:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R4038:Slc16a10	UTSW	10	40056624	missense	possibly damaging	0.94
R4254:Slc16a10	UTSW	10	40077001	missense	probably damaging	1.00
R4980:Slc16a10	UTSW	10	40080805	missense	probably damaging	1.00
R5498:Slc16a10	UTSW	10	40037327	missense	probably damaging	0.99
R5542:Slc16a10	UTSW	10	40076788	missense	probably benign	0.03
R6541:Slc16a10	UTSW	10	40037272	missense	probably benign	0.00
R6555:Slc16a10	UTSW	10	40080778	missense	probably benign	0.41
R7171:Slc16a10	UTSW	10	40037259	missense	probably benign	0.03
R7354:Slc16a10	UTSW	10	40076955	missense	probably damaging	1.00
R7414:Slc16a10	UTSW	10	40141996	missense	probably benign	0.02
R7728:Slc16a10	UTSW	10	40040758	missense	probably damaging	1.00
R7792:Slc16a10	UTSW	10	40037415	splice site	probably null
R8366:Slc16a10	UTSW	10	40076871	missense	probably benign	0.01
Z1177:Slc16a10	UTSW	10	40076971	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATATAGGTACATTTAGTGCAAGTGC -3'
(R):5'- CACGGACTTATCACAGGAGCTG -3'

Sequencing Primer
(F):5'- TGCAAGTGCACCACTAGG -3'
(R):5'- TTAATGATGCAGGCCTCCAG -3'

Posted On

2019-05-13