Mutagenetix > Incidental Mutation

Incidental Mutation 'R5613:Slc16a12'

438115

Institutional Source

Beutler Lab

Gene Symbol

Slc16a12

Ensembl Gene

ENSMUSG00000009378

Gene Name

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

Synonyms

MMRRC Submission

043274-MU

Accession Numbers

Essential gene?

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

Stock #

R5613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34645803-34724689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34652358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 263 (M263V)

Ref Sequence

ENSEMBL: ENSMUSP00000009522 (fasta)

Gene Model

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

AlphaFold

Q8BGC3

Predicted Effect

probably benign
Transcript: ENSMUST00000009522
AA Change: M263V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000009522
Gene: ENSMUSG00000009378
AA Change: M263V

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

Meta Mutation Damage Score

0.0816

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 97.0%

Validation Efficiency

98% (59/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,465,346 (GRCm39)		probably benign	Het
Adamts16	A	C	13: 70,878,253 (GRCm39)	S1171A	probably benign	Het
Agtr1b	T	C	3: 20,370,424 (GRCm39)	T61A	probably damaging	Het
Ankrd35	A	G	3: 96,590,334 (GRCm39)	D257G	possibly damaging	Het
Arhgef5	A	G	6: 43,250,997 (GRCm39)	T583A	probably benign	Het
Camk2g	T	C	14: 20,787,559 (GRCm39)	N423S	probably damaging	Het
Cand1	A	T	10: 119,051,228 (GRCm39)	H293Q	possibly damaging	Het
Chd4	A	C	6: 125,097,509 (GRCm39)	E1359D	probably damaging	Het
Creb3	T	C	4: 43,566,196 (GRCm39)	C264R	probably benign	Het
Cul9	T	C	17: 46,814,770 (GRCm39)	D2171G	probably damaging	Het
Cyp7a1	A	T	4: 6,272,799 (GRCm39)	L138Q	probably damaging	Het
Dclk1	A	G	3: 55,424,360 (GRCm39)	T380A	probably benign	Het
Dnm2	T	A	9: 21,383,963 (GRCm39)	I248N	probably damaging	Het
Dtx4	A	T	19: 12,462,767 (GRCm39)	S337R	probably damaging	Het
Dus3l	T	C	17: 57,074,882 (GRCm39)	S335P	possibly damaging	Het
Dync1h1	T	C	12: 110,599,254 (GRCm39)	Y1870H	possibly damaging	Het
Eral1	G	A	11: 77,965,230 (GRCm39)		probably benign	Het
Eya1	G	T	1: 14,373,153 (GRCm39)		probably benign	Het
Fbxw28	T	A	9: 109,167,601 (GRCm39)	Y52F	probably benign	Het
Fcgbpl1	A	T	7: 27,842,303 (GRCm39)		probably benign	Het
Gm5600	A	G	7: 113,307,293 (GRCm39)		noncoding transcript	Het
Gm5901	A	G	7: 105,026,532 (GRCm39)	Y100C	probably damaging	Het
Haus3	A	G	5: 34,325,173 (GRCm39)	L162P	probably damaging	Het
Hivep2	T	C	10: 14,015,239 (GRCm39)	I1802T	probably damaging	Het
Klf7	G	A	1: 64,081,555 (GRCm39)	R258C	probably damaging	Het
Mapt	A	G	11: 104,193,216 (GRCm39)	N66D	possibly damaging	Het
Mypop	G	A	7: 18,725,901 (GRCm39)		probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nup153	A	C	13: 46,840,747 (GRCm39)	S954A	possibly damaging	Het
Or13c7	G	A	4: 43,854,528 (GRCm39)	C73Y	probably damaging	Het
Or4a78	T	C	2: 89,497,388 (GRCm39)	N281D	probably damaging	Het
Pkn1	C	T	8: 84,404,390 (GRCm39)	A543T	probably benign	Het
Ppp1r11	C	A	17: 37,262,380 (GRCm39)	G7W	probably damaging	Het
Prss52	A	T	14: 64,346,951 (GRCm39)	N42Y	possibly damaging	Het
Ptger2	T	G	14: 45,226,960 (GRCm39)	V180G	possibly damaging	Het
Rep15	G	T	6: 146,934,352 (GRCm39)	V64F	possibly damaging	Het
Rfpl4b	T	A	10: 38,697,373 (GRCm39)	Q76L	probably benign	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Spdye4c	A	T	2: 128,434,889 (GRCm39)	Q95L	possibly damaging	Het
Srfbp1	G	A	18: 52,616,717 (GRCm39)	D81N	probably damaging	Het
Sspo	G	A	6: 48,431,978 (GRCm39)	V731M	possibly damaging	Het
Susd6	G	T	12: 80,915,308 (GRCm39)	G98C	probably damaging	Het
Tlr4	T	A	4: 66,759,122 (GRCm39)	S638R	possibly damaging	Het
Tnfsf13	G	T	11: 69,574,821 (GRCm39)		probably null	Het
Tnfsf18	A	G	1: 161,331,297 (GRCm39)	N149S	possibly damaging	Het
Tor1aip1	T	C	1: 155,909,499 (GRCm39)	K176E	probably damaging	Het
Trav10	A	T	14: 53,743,483 (GRCm39)	H28L	probably benign	Het
Trim30a	T	A	7: 104,079,389 (GRCm39)	K155N	probably damaging	Het
Trpm1	A	G	7: 63,858,159 (GRCm39)	D333G	probably damaging	Het
Tssk1	T	C	16: 17,712,364 (GRCm39)	S50P	probably benign	Het
Ttll9	CAAA	CAA	2: 152,815,521 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,739,996 (GRCm39)		probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr95	A	T	5: 149,507,935 (GRCm39)	D396V	probably damaging	Het
Zbtb47	T	A	9: 121,596,585 (GRCm39)	I647N	probably damaging	Het
Zfp799	T	C	17: 33,038,964 (GRCm39)	Y433C	probably damaging	Het

Other mutations in Slc16a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Slc16a12	APN	19	34,650,084 (GRCm39)	missense	possibly damaging	0.57
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
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

Predicted Primers

PCR Primer
(F):5'- CTCCTAGGAAAAGCCAGTTGC -3'
(R):5'- TCTGATGCGTCCAATTACCC -3'

Sequencing Primer
(F):5'- GCGTTTTGCCCCGGAATTTAC -3'
(R):5'- GATGCGTCCAATTACCCTTAAAGAGG -3'

Posted On

2016-10-26