Mutagenetix > Incidental Mutation

Incidental Mutation 'R9302:Slc16a6'

705023

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109341681-109364424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109350634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 207 (V207I)

Ref Sequence

ENSEMBL: ENSMUSP00000065628 (fasta)

Gene Model

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

AlphaFold

B1AT66

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 benign
Transcript: ENSMUST00000070152
AA Change: V207I

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

SMART Domains

Protein: ENSMUSP00000065628
Gene: ENSMUSG00000041920
AA Change: V207I

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 benign
Transcript: ENSMUST00000070872
AA Change: V123I

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

SMART Domains

Protein: ENSMUSP00000067423
Gene: ENSMUSG00000041920
AA Change: V123I

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
AA Change: V139I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125950
Gene: ENSMUSG00000041920
AA Change: V139I

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,392,956 (GRCm39)	L115P	probably damaging	Het
Acsl1	T	A	8: 46,983,470 (GRCm39)	D494E	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Ak9	A	T	10: 41,196,486 (GRCm39)	I103F		Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Ano4	T	A	10: 88,831,220 (GRCm39)	I468L	probably benign	Het
Anxa2r1	A	G	13: 120,496,626 (GRCm39)	I81T	probably benign	Het
Arhgef10l	G	A	4: 140,242,548 (GRCm39)	S959L	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cfap221	T	C	1: 119,853,365 (GRCm39)	I776M	probably benign	Het
Col3a1	C	T	1: 45,350,980 (GRCm39)	Q25*	probably null	Het
Crabp2	C	A	3: 87,859,833 (GRCm39)	L100I	probably benign	Het
Dnah5	A	G	15: 28,240,032 (GRCm39)	D463G	probably benign	Het
Dst	T	C	1: 34,264,636 (GRCm39)	L2602P	probably damaging	Het
Dusp1	A	G	17: 26,726,148 (GRCm39)	Y182H	probably damaging	Het
Fhip1a	C	A	3: 85,579,941 (GRCm39)	D755Y	probably damaging	Het
Fras1	T	A	5: 96,682,751 (GRCm39)	C83S	probably damaging	Het
Frrs1	G	T	3: 116,692,899 (GRCm39)		probably null	Het
Gcnt3	A	G	9: 69,942,529 (GRCm39)	L13P	possibly damaging	Het
Gm8094	T	C	14: 42,932,834 (GRCm39)	D88G	probably benign	Het
Hfe	C	T	13: 23,890,025 (GRCm39)	M249I	probably benign	Het
Hipk1	T	C	3: 103,685,099 (GRCm39)	E172G	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Ltb4r2	A	T	14: 55,999,733 (GRCm39)	Q118L	probably damaging	Het
Ltbp4	A	T	7: 27,008,481 (GRCm39)	C1342S	possibly damaging	Het
Lyst	A	G	13: 13,904,947 (GRCm39)	D3208G	possibly damaging	Het
Mbnl2	A	G	14: 120,622,950 (GRCm39)	T163A	probably benign	Het
Mre11a	T	A	9: 14,696,826 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,776,238 (GRCm39)	N610D	possibly damaging	Het
Nt5c1b	T	C	12: 10,430,882 (GRCm39)	S390P	probably damaging	Het
Or10ag53	T	A	2: 87,082,906 (GRCm39)	F208L	probably benign	Het
Pde3b	A	G	7: 114,122,621 (GRCm39)	T730A	probably damaging	Het
Pdzd2	G	T	15: 12,374,342 (GRCm39)	T1931N	possibly damaging	Het
Pla2g15	C	T	8: 106,877,201 (GRCm39)	A28V	probably benign	Het
Pmfbp1	A	T	8: 110,268,474 (GRCm39)	D1007V	probably damaging	Het
Polr1a	T	A	6: 71,901,683 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,721,891 (GRCm39)	K312E	probably benign	Het
Prmt5	G	A	14: 54,749,583 (GRCm39)	T269I	probably benign	Het
Pwp2	A	G	10: 78,009,540 (GRCm39)	S793P	probably benign	Het
Rbm12b1	C	A	4: 12,146,181 (GRCm39)	H718N	probably benign	Het
Rfx1	T	A	8: 84,817,662 (GRCm39)	M512K	possibly damaging	Het
Rp1	T	C	1: 4,416,789 (GRCm39)	E1441G	probably damaging	Het
Slc6a9	G	A	4: 117,706,596 (GRCm39)	R7H	possibly damaging	Het
Sptlc1	A	T	13: 53,528,047 (GRCm39)	V39D	probably benign	Het
Strc	A	T	2: 121,211,336 (GRCm39)	L3Q	unknown	Het
Svep1	C	T	4: 58,120,565 (GRCm39)	E823K	possibly damaging	Het
Tat	A	G	8: 110,725,031 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,968,800 (GRCm39)	N190K	possibly damaging	Het
Tomt	T	C	7: 101,549,826 (GRCm39)	E154G	probably damaging	Het
Topaz1	T	A	9: 122,617,887 (GRCm39)	V1228E	possibly damaging	Het
Trim55	G	A	3: 19,727,153 (GRCm39)	V407M	probably benign	Het
Ttll5	T	A	12: 85,873,338 (GRCm39)	M5K	possibly damaging	Het
Ugt2a2	A	C	5: 87,609,940 (GRCm39)	Y380*	probably null	Het
Usp46	A	G	5: 74,163,922 (GRCm39)	Y272H	probably benign	Het
Vps39	A	T	2: 120,151,525 (GRCm39)		probably benign	Het
Zfp12	T	A	5: 143,230,421 (GRCm39)	H281Q	probably damaging	Het
Zfp142	C	A	1: 74,606,302 (GRCm39)	R1756L	probably damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	possibly damaging	Het

Other mutations in Slc16a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03289:Slc16a6	APN	11	109,354,325 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Slc16a6	UTSW	11	109,349,419 (GRCm39)	missense	possibly damaging	0.95
R1420:Slc16a6	UTSW	11	109,345,772 (GRCm39)	missense	probably damaging	0.99
R3902:Slc16a6	UTSW	11	109,349,387 (GRCm39)	missense	probably damaging	1.00
R4706:Slc16a6	UTSW	11	109,354,193 (GRCm39)	missense	probably benign	0.45
R4707:Slc16a6	UTSW	11	109,354,193 (GRCm39)	missense	probably benign	0.45
R5940:Slc16a6	UTSW	11	109,364,022 (GRCm39)	unclassified	probably benign
R6646:Slc16a6	UTSW	11	109,343,988 (GRCm39)	missense	probably benign	0.03
R6889:Slc16a6	UTSW	11	109,345,866 (GRCm39)	missense	probably damaging	1.00
R7266:Slc16a6	UTSW	11	109,344,107 (GRCm39)	missense	probably benign	0.05
R8053:Slc16a6	UTSW	11	109,349,395 (GRCm39)	missense	probably damaging	1.00
R8079:Slc16a6	UTSW	11	109,364,281 (GRCm39)	missense	unknown
R8829:Slc16a6	UTSW	11	109,345,932 (GRCm39)	missense	probably benign	0.03
R8832:Slc16a6	UTSW	11	109,345,932 (GRCm39)	missense	probably benign	0.03
R8968:Slc16a6	UTSW	11	109,345,776 (GRCm39)	missense	possibly damaging	0.95
R9620:Slc16a6	UTSW	11	109,354,322 (GRCm39)	missense	probably benign	0.16
R9694:Slc16a6	UTSW	11	109,354,322 (GRCm39)	missense	probably benign	0.16

Predicted Primers

Posted On

2022-03-25