Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Slc16a6'

537128

Institutional Source

Beutler Lab

Gene Symbol

Slc16a6

Ensembl Gene

ENSMUSG00000041920

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 6

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109450855-109473598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109455040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 382 (F382V)

Ref Sequence

ENSEMBL: ENSMUSP00000067423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000032206] [ENSMUST00000070152] [ENSMUST00000070872] [ENSMUST00000168740]

AlphaFold

B1AT66

Predicted Effect

probably benign
Transcript: ENSMUST00000020929

SMART Domains

Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M54	220	302	7.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032206

SMART Domains

Protein: ENSMUSP00000032206
Gene: ENSMUSG00000041920

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070152
AA Change: F466V

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

SMART Domains

Protein: ENSMUSP00000065628
Gene: ENSMUSG00000041920
AA Change: F466V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	115	521	7.5e-36	PFAM
transmembrane domain	533	555	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070872
AA Change: F382V

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

SMART Domains

Protein: ENSMUSP00000067423
Gene: ENSMUSG00000041920
AA Change: F382V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	31	437	2.8e-36	PFAM
transmembrane domain	449	471	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168740

SMART Domains

Protein: ENSMUSP00000125950
Gene: ENSMUSG00000041920

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	108	127	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,943,053	D103E	probably benign	Het
Abcc3	A	T	11: 94,375,555	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895		probably null	Het
BC067074	C	A	13: 113,318,378	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350	F531L	probably damaging	Het
Eme1	G	A	11: 94,650,477	T173I	probably benign	Het
Gli2	A	T	1: 118,844,416	C520S	probably damaging	Het
Gm43302	T	C	5: 105,280,138	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myh15	A	G	16: 49,153,111	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057	F652S	probably damaging	Het
Olfr1338	G	A	4: 118,754,307	T79I	probably damaging	Het
Olfr487	A	T	7: 108,211,918	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532	M302T	probably benign	Het
Opa1	G	T	16: 29,620,868	R792L	probably benign	Het
Pcdha6	G	T	18: 36,968,343	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970	Y347*	probably null	Het
Pdpr	G	T	8: 111,124,613		probably null	Het
Pigt	T	A	2: 164,507,331	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715	F202L	probably damaging	Het
Rars	A	T	11: 35,808,486	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925		probably benign	Het
Slc30a7	T	C	3: 115,954,153	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767		probably null	Het
Syt9	A	T	7: 107,425,286	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990	E882G	possibly damaging	Het

Other mutations in Slc16a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03289:Slc16a6	APN	11	109463499	missense	probably damaging	1.00
PIT4280001:Slc16a6	UTSW	11	109458593	missense	possibly damaging	0.95
R1420:Slc16a6	UTSW	11	109454946	missense	probably damaging	0.99
R3902:Slc16a6	UTSW	11	109458561	missense	probably damaging	1.00
R4706:Slc16a6	UTSW	11	109463367	missense	probably benign	0.45
R4707:Slc16a6	UTSW	11	109463367	missense	probably benign	0.45
R5940:Slc16a6	UTSW	11	109473196	unclassified	probably benign
R6646:Slc16a6	UTSW	11	109453162	missense	probably benign	0.03
R7266:Slc16a6	UTSW	11	109453281	missense	probably benign	0.05
R8053:Slc16a6	UTSW	11	109458569	missense	probably damaging	1.00
R8079:Slc16a6	UTSW	11	109473455	missense	unknown
R8829:Slc16a6	UTSW	11	109455106	missense	probably benign	0.03
R8832:Slc16a6	UTSW	11	109455106	missense	probably benign	0.03
R8968:Slc16a6	UTSW	11	109454950	missense	possibly damaging	0.95
R9302:Slc16a6	UTSW	11	109459808	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTTAGTCACCTGCCAGGG -3'
(R):5'- TGGACTTCTCCGTCTTGAAAGAG -3'

Sequencing Primer
(F):5'- ACCTGCCAGGGGTGGTC -3'
(R):5'- GGTATCAGTCTAGGCATTGACCC -3'

Posted On

2018-10-18