Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01377:Slc16a12'

78780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc16a12

Ensembl Gene

ENSMUSG00000009378

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 12

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01377

Quality Score

Status

Chromosome

Chromosomal Location

34645803-34724689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34650084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 317 (N317I)

Ref Sequence

ENSEMBL: ENSMUSP00000009522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009522]

AlphaFold

Q8BGC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009522
AA Change: N317I

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000009522
Gene: ENSMUSG00000009378
AA Change: N317I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	25	232	5.6e-23	PFAM
Pfam:MFS_1	253	465	1.5e-16	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,460,108 (GRCm39)	V196D	probably damaging	Het
Ago1	C	T	4: 126,353,610 (GRCm39)	V279M	probably damaging	Het
Bltp1	T	C	3: 37,027,601 (GRCm39)		probably null	Het
Ccdc170	A	G	10: 4,510,966 (GRCm39)	D675G	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,708 (GRCm39)	Y291N	probably damaging	Het
Cdca5	T	C	19: 6,140,312 (GRCm39)	S158P	probably damaging	Het
Cdh8	A	G	8: 99,760,021 (GRCm39)	I576T	probably damaging	Het
Cpsf2	T	A	12: 101,953,640 (GRCm39)		probably null	Het
Cyc1	C	T	15: 76,229,162 (GRCm39)	R143*	probably null	Het
Dcaf6	A	T	1: 165,216,293 (GRCm39)	S437T	probably benign	Het
Eif5b	A	G	1: 38,075,179 (GRCm39)	D552G	probably benign	Het
Epor	T	C	9: 21,870,593 (GRCm39)	D429G	probably damaging	Het
Farp2	A	G	1: 93,531,181 (GRCm39)	I560V	possibly damaging	Het
Fbxw21	T	A	9: 108,975,713 (GRCm39)	R228*	probably null	Het
Fyb1	T	C	15: 6,609,801 (GRCm39)	S125P	probably benign	Het
Gfm1	A	T	3: 67,382,086 (GRCm39)	Y720F	probably damaging	Het
Hspbap1	T	A	16: 35,645,681 (GRCm39)	D455E	possibly damaging	Het
Katnal2	T	C	18: 77,090,153 (GRCm39)	R285G	probably damaging	Het
Kif12	G	A	4: 63,088,962 (GRCm39)	T153I	probably damaging	Het
Klhl31	T	C	9: 77,558,013 (GRCm39)	F243S	probably benign	Het
Large2	A	G	2: 92,199,676 (GRCm39)	Y208H	probably damaging	Het
Lrp1b	A	G	2: 40,491,550 (GRCm39)	V239A	probably damaging	Het
Mblac2	G	A	13: 81,898,266 (GRCm39)	R214H	probably damaging	Het
Mlf2	A	G	6: 124,911,654 (GRCm39)	N168D	probably damaging	Het
Mtmr6	T	A	14: 60,519,483 (GRCm39)	Y134*	probably null	Het
Mtus1	T	C	8: 41,536,172 (GRCm39)	K515E	possibly damaging	Het
Nek1	A	G	8: 61,542,490 (GRCm39)	T718A	probably benign	Het
Nfx1	A	G	4: 40,977,241 (GRCm39)	N305S	probably benign	Het
Nrxn3	T	A	12: 89,499,782 (GRCm39)		probably null	Het
Nsf	T	C	11: 103,763,473 (GRCm39)	D377G	probably damaging	Het
Pde4b	A	G	4: 102,344,599 (GRCm39)	E102G	probably damaging	Het
Pdlim4	G	T	11: 53,947,130 (GRCm39)	S56R	probably benign	Het
Poc5	T	C	13: 96,538,139 (GRCm39)	V268A	probably benign	Het
Sec23b	A	C	2: 144,401,157 (GRCm39)	E6A	probably damaging	Het
Sgsm1	A	T	5: 113,424,048 (GRCm39)		probably benign	Het
Slc1a7	A	T	4: 107,850,162 (GRCm39)	D91V	probably damaging	Het
Slc30a9	T	G	5: 67,473,173 (GRCm39)	S86A	probably benign	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,380,636 (GRCm39)	S16P	probably benign	Het
Tmtc1	A	C	6: 148,147,285 (GRCm39)	V804G	possibly damaging	Het
Ttc7b	A	G	12: 100,321,371 (GRCm39)	F587L	probably benign	Het
Vmn2r86	A	T	10: 130,288,855 (GRCm39)	D215E	probably damaging	Het

Other mutations in Slc16a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01728:Slc16a12	APN	19	34,668,071 (GRCm39)	missense	possibly damaging	0.71
PIT1430001:Slc16a12	UTSW	19	34,654,759 (GRCm39)	missense	possibly damaging	0.50
R0017:Slc16a12	UTSW	19	34,650,098 (GRCm39)	splice site	probably benign
R0122:Slc16a12	UTSW	19	34,652,264 (GRCm39)	missense	probably benign	0.03
R0140:Slc16a12	UTSW	19	34,650,104 (GRCm39)	splice site	probably benign
R1669:Slc16a12	UTSW	19	34,657,781 (GRCm39)	missense	probably benign	0.33
R1824:Slc16a12	UTSW	19	34,648,278 (GRCm39)	missense	possibly damaging	0.89
R4033:Slc16a12	UTSW	19	34,652,567 (GRCm39)	missense	probably damaging	1.00
R4669:Slc16a12	UTSW	19	34,649,965 (GRCm39)	missense	probably damaging	1.00
R4703:Slc16a12	UTSW	19	34,652,291 (GRCm39)	missense	possibly damaging	0.94
R4832:Slc16a12	UTSW	19	34,657,780 (GRCm39)	missense	possibly damaging	0.84
R4937:Slc16a12	UTSW	19	34,652,643 (GRCm39)	missense	probably damaging	1.00
R4997:Slc16a12	UTSW	19	34,652,358 (GRCm39)	missense	probably benign	0.00
R5613:Slc16a12	UTSW	19	34,652,358 (GRCm39)	missense	probably benign	0.43
R5725:Slc16a12	UTSW	19	34,652,227 (GRCm39)	missense	probably damaging	1.00
R6139:Slc16a12	UTSW	19	34,648,295 (GRCm39)	critical splice acceptor site	probably null
R6417:Slc16a12	UTSW	19	34,650,097 (GRCm39)	critical splice acceptor site	probably null
R6420:Slc16a12	UTSW	19	34,650,097 (GRCm39)	critical splice acceptor site	probably null
R6947:Slc16a12	UTSW	19	34,650,007 (GRCm39)	missense	probably benign	0.03
R7694:Slc16a12	UTSW	19	34,648,035 (GRCm39)	missense	probably damaging	1.00
R7819:Slc16a12	UTSW	19	34,652,579 (GRCm39)	missense	probably damaging	1.00
R7860:Slc16a12	UTSW	19	34,652,730 (GRCm39)	missense	probably benign	0.00
R8882:Slc16a12	UTSW	19	34,649,854 (GRCm39)	missense	probably benign	0.01

Posted On

2013-11-05