Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4280001:Slc16a6'

554428

Institutional Source

Beutler Lab

Gene Symbol

Slc16a6

Ensembl Gene

ENSMUSG00000041920

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4280001 (G1)

Quality Score

144.008

Status

Not validated

Chromosome

Chromosomal Location

109341681-109364424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109349419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 214 (C214Y)

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
AA Change: C82Y

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032206
Gene: ENSMUSG00000041920
AA Change: C82Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070152
AA Change: C214Y

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065628
Gene: ENSMUSG00000041920
AA Change: C214Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070872
AA Change: C130Y

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067423
Gene: ENSMUSG00000041920
AA Change: C130Y

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: 93.1%
3x: 90.9%
10x: 85.5%
20x: 73.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,331,660 (GRCm39)	D161G	probably damaging	Het
Acer2	C	T	4: 86,805,320 (GRCm39)	L95F	probably damaging	Het
Adam15	C	T	3: 89,251,285 (GRCm39)		probably null	Het
Aoc1l3	A	T	6: 48,964,054 (GRCm39)	M21L	probably benign	Het
Bmi1	T	A	2: 18,687,820 (GRCm39)	Y98*	probably null	Het
Cdon	T	C	9: 35,398,231 (GRCm39)	C983R	probably damaging	Het
Cfap91	C	T	16: 38,153,135 (GRCm39)	V160I	probably benign	Het
Col12a1	T	C	9: 79,585,387 (GRCm39)	R1297G	probably damaging	Het
Cpd	A	T	11: 76,681,850 (GRCm39)	M1132K	probably benign	Het
Dnah17	T	A	11: 117,989,408 (GRCm39)	R1267W	possibly damaging	Het
Dnah9	G	A	11: 65,895,839 (GRCm39)	A2512V	probably benign	Het
Eri3	G	A	4: 117,439,831 (GRCm39)	G175D	probably damaging	Het
Fbxo9	C	A	9: 77,994,793 (GRCm39)	W244L	probably damaging	Het
Fgfr3	A	T	5: 33,889,576 (GRCm39)	H343L	probably benign	Het
Fmnl2	G	A	2: 53,008,208 (GRCm39)	A803T	unknown	Het
Fmnl3	A	G	15: 99,219,134 (GRCm39)		probably null	Het
Fth1	C	A	19: 9,961,973 (GRCm39)	A104E	probably damaging	Het
Gcm1	T	C	9: 77,966,915 (GRCm39)	Y45H	probably damaging	Het
Gm5157	C	G	7: 20,919,007 (GRCm39)	G179R	probably damaging	Het
Gpr179	A	G	11: 97,234,941 (GRCm39)	I463T	probably damaging	Het
Gpr35	T	C	1: 92,910,356 (GRCm39)	Y23H	probably damaging	Het
Inpp4b	C	T	8: 82,761,046 (GRCm39)	H647Y	probably benign	Het
Kif6	A	T	17: 50,062,148 (GRCm39)	K436M	probably benign	Het
Lacc1	T	A	14: 77,272,517 (GRCm39)	Q93L	probably damaging	Het
Lamc1	T	C	1: 153,119,217 (GRCm39)	R801G	probably damaging	Het
Lrp2bp	T	G	8: 46,476,048 (GRCm39)	V263G	probably damaging	Het
Magi3	T	A	3: 103,961,668 (GRCm39)	K453N	probably damaging	Het
Mfsd6	T	A	1: 52,700,039 (GRCm39)	Y703F	probably benign	Het
Mms22l	A	G	4: 24,581,149 (GRCm39)	T820A	probably benign	Het
Ndufa12	T	C	10: 94,034,994 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,290,063 (GRCm39)	C150S	possibly damaging	Het
Noc4l	G	A	5: 110,799,305 (GRCm39)	T159I	probably benign	Het
Olfml2b	T	A	1: 170,475,305 (GRCm39)	C77S	probably damaging	Het
Or4c12	A	T	2: 89,774,087 (GRCm39)	I124N	probably damaging	Het
Or9a4	C	A	6: 40,548,650 (GRCm39)	T110K	probably damaging	Het
Pdzd2	A	G	15: 12,399,374 (GRCm39)	V784A	probably damaging	Het
Pip5kl1	A	T	2: 32,473,470 (GRCm39)	Y369F	probably benign	Het
Pkdrej	A	T	15: 85,704,136 (GRCm39)	I600N	probably benign	Het
Psg19	T	C	7: 18,530,831 (GRCm39)	I108V	probably damaging	Het
Pxdn	G	A	12: 30,045,327 (GRCm39)	V539M	probably damaging	Het
Resf1	T	G	6: 149,227,023 (GRCm39)	I23S	probably benign	Het
Rsbn1l	T	A	5: 21,124,653 (GRCm39)	H383L	probably damaging	Het
Scamp2	A	T	9: 57,488,076 (GRCm39)	N118I	probably damaging	Het
Scn2a	T	C	2: 65,546,074 (GRCm39)	V879A	probably damaging	Het
Scn8a	G	A	15: 100,855,370 (GRCm39)	E172K	probably damaging	Het
Stag1	A	G	9: 100,824,769 (GRCm39)	T922A	possibly damaging	Het
Tarbp1	T	C	8: 127,157,586 (GRCm39)	H1307R	probably damaging	Het
Tut1	T	G	19: 8,936,626 (GRCm39)	V150G	probably benign	Het
Ubr2	G	A	17: 47,255,789 (GRCm39)	R1371W	probably damaging	Het
Vmn2r124	A	G	17: 18,283,487 (GRCm39)	N394D	probably benign	Het
Vmn2r63	T	C	7: 42,553,409 (GRCm39)	T616A	probably damaging	Het
Zp3	G	A	5: 136,013,318 (GRCm39)	V217M	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
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
R9302:Slc16a6	UTSW	11	109,350,634 (GRCm39)	missense	probably benign	0.00
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

PCR Primer
(F):5'- AGCCTGGGACATCTCATGAC -3'
(R):5'- GGTGAAGTCCATTTTCTTTGCC -3'

Sequencing Primer
(F):5'- TTGGCCCAAGTTAGTACAGC -3'
(R):5'- CCATGGTTTTTCTGCGGAATG -3'

Posted On

2019-06-07