Mutagenetix > Incidental Mutation

Incidental Mutation 'R3547:Slc16a7'

268268

Institutional Source

Beutler Lab

Gene Symbol

Slc16a7

Ensembl Gene

ENSMUSG00000020102

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 7

Synonyms

4921534N07Rik, 9030411M13Rik, D630004K10Rik, MCT2

MMRRC Submission

040666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125055139-125225334 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 125130569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 39 (K39*)

Ref Sequence

ENSEMBL: ENSMUSP00000147968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063318] [ENSMUST00000105257] [ENSMUST00000210069] [ENSMUST00000210780] [ENSMUST00000211781]

AlphaFold

O70451

Predicted Effect

probably null
Transcript: ENSMUST00000063318
AA Change: K39*

SMART Domains

Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102
AA Change: K39*

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:MFS_1	22	389	2e-37	PFAM
transmembrane domain	404	426	N/A	INTRINSIC
coiled coil region	436	463	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105257
AA Change: K39*

SMART Domains

Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102
AA Change: K39*

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:MFS_1	22	389	6e-37	PFAM
transmembrane domain	404	426	N/A	INTRINSIC
coiled coil region	436	463	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000210069
AA Change: K39*

Predicted Effect

probably null
Transcript: ENSMUST00000210780
AA Change: K39*

Predicted Effect

probably null
Transcript: ENSMUST00000211781
AA Change: K39*

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg5	A	G	3: 54,656,736 (GRCm39)	R316G	probably benign	Het
Anapc1	T	C	2: 128,484,602 (GRCm39)	N1121D	possibly damaging	Het
Antxr2	A	T	5: 98,125,516 (GRCm39)	I247N	probably benign	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arl9	A	G	5: 77,158,326 (GRCm39)	D136G	probably benign	Het
Atxn1l	A	G	8: 110,458,981 (GRCm39)	L427P	possibly damaging	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Clec4a3	A	G	6: 122,941,239 (GRCm39)	E78G	probably damaging	Het
Clip1	A	G	5: 123,769,141 (GRCm39)	L532P	probably damaging	Het
Col12a1	T	G	9: 79,540,698 (GRCm39)	K2429T	probably damaging	Het
Col20a1	G	T	2: 180,636,704 (GRCm39)	E228D	probably damaging	Het
Cx3cl1	A	C	8: 95,504,752 (GRCm39)	E56A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Fhit	T	C	14: 9,870,095 (GRCm38)	T125A	probably benign	Het
Gdi1	T	A	X: 73,351,414 (GRCm39)	F175L	possibly damaging	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Gpr149	A	T	3: 62,502,549 (GRCm39)	C436S	probably benign	Het
Grid2	T	C	6: 64,297,005 (GRCm39)	V456A	probably damaging	Het
Gstcd	G	T	3: 132,790,599 (GRCm39)	T56K	possibly damaging	Het
Hydin	G	A	8: 111,308,699 (GRCm39)	G3995D	possibly damaging	Het
Igkv4-50	G	A	6: 69,677,765 (GRCm39)	T113I	probably benign	Het
Igkv5-43	A	G	6: 69,753,240 (GRCm39)		probably benign	Het
Igsf10	G	A	3: 59,237,962 (GRCm39)	H740Y	probably benign	Het
Igsf10	C	A	3: 59,243,935 (GRCm39)	R133L	probably damaging	Het
Lcmt1	A	G	7: 122,999,702 (GRCm39)	E94G	probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Ly6m	C	A	15: 74,753,463 (GRCm39)	A18S	probably null	Het
Map3k3	C	T	11: 106,033,379 (GRCm39)	Q211*	probably null	Het
Map4	T	A	9: 109,881,266 (GRCm39)	F43L	possibly damaging	Het
Mcf2	T	C	X: 59,180,806 (GRCm39)	K74R	probably damaging	Het
Mylk	G	A	16: 34,700,538 (GRCm39)	V460I	possibly damaging	Het
Nat1	A	G	8: 67,943,684 (GRCm39)	D23G	possibly damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Ncf1	T	A	5: 134,255,463 (GRCm39)	K143*	probably null	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or52b3	A	G	7: 102,203,677 (GRCm39)	Y62C	probably damaging	Het
Pi4k2a	C	T	19: 42,078,987 (GRCm39)	P16L	probably benign	Het
Pitx3	T	A	19: 46,124,548 (GRCm39)	Q273L	possibly damaging	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Prickle2	T	C	6: 92,388,118 (GRCm39)	Y428C	probably damaging	Het
Prkcq	A	G	2: 11,288,627 (GRCm39)	K527E	probably benign	Het
Prune2	T	A	19: 17,101,712 (GRCm39)	S2405R	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rnf167	T	C	11: 70,540,507 (GRCm39)	I129T	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfxn2	T	C	19: 46,578,635 (GRCm39)	S217P	probably damaging	Het
Slc22a17	A	G	14: 55,144,694 (GRCm39)	L573P	probably damaging	Het
Slc25a45	T	C	19: 5,934,574 (GRCm39)	Y181H	probably damaging	Het
Slc6a20a	A	G	9: 123,489,567 (GRCm39)	S159P	probably damaging	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Thnsl1	T	G	2: 21,217,438 (GRCm39)	D397E	probably benign	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ube4b	T	C	4: 149,419,573 (GRCm39)	D1045G	probably damaging	Het
Ugt8a	A	T	3: 125,661,031 (GRCm39)	L487*	probably null	Het
Uprt	T	A	X: 103,526,934 (GRCm39)	L123H	probably damaging	Het
Usp9x	T	C	X: 12,994,629 (GRCm39)	L940P	probably benign	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Uty	A	C	Y: 1,158,512 (GRCm39)	D463E	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	Het
Vps13d	T	G	4: 144,801,545 (GRCm39)	T3558P	probably damaging	Het
Zfp319	A	G	8: 96,055,445 (GRCm39)	S253P	probably damaging	Het
Zfp831	A	G	2: 174,499,476 (GRCm39)	S1265G	probably benign	Het

Other mutations in Slc16a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Slc16a7	APN	10	125,066,803 (GRCm39)	missense	probably benign	0.16
IGL02228:Slc16a7	APN	10	125,066,667 (GRCm39)	missense	probably damaging	1.00
IGL02500:Slc16a7	APN	10	125,066,802 (GRCm39)	missense	probably damaging	1.00
IGL03277:Slc16a7	APN	10	125,066,560 (GRCm39)	missense	probably benign	0.00
R0044:Slc16a7	UTSW	10	125,063,951 (GRCm39)	missense	probably benign	0.01
R0076:Slc16a7	UTSW	10	125,063,939 (GRCm39)	missense	probably benign	0.34
R0285:Slc16a7	UTSW	10	125,130,500 (GRCm39)	missense	probably benign	0.22
R0546:Slc16a7	UTSW	10	125,066,742 (GRCm39)	missense	probably benign	0.02
R0898:Slc16a7	UTSW	10	125,069,370 (GRCm39)	missense	possibly damaging	0.46
R1123:Slc16a7	UTSW	10	125,067,016 (GRCm39)	missense	probably benign	0.00
R1173:Slc16a7	UTSW	10	125,067,241 (GRCm39)	missense	possibly damaging	0.82
R1459:Slc16a7	UTSW	10	125,066,489 (GRCm39)	nonsense	probably null
R1554:Slc16a7	UTSW	10	125,066,791 (GRCm39)	missense	possibly damaging	0.70
R1838:Slc16a7	UTSW	10	125,067,067 (GRCm39)	missense	probably damaging	1.00
R3545:Slc16a7	UTSW	10	125,130,569 (GRCm39)	nonsense	probably null
R3546:Slc16a7	UTSW	10	125,130,569 (GRCm39)	nonsense	probably null
R3934:Slc16a7	UTSW	10	125,066,712 (GRCm39)	missense	probably damaging	1.00
R3935:Slc16a7	UTSW	10	125,066,712 (GRCm39)	missense	probably damaging	1.00
R4499:Slc16a7	UTSW	10	125,064,056 (GRCm39)	missense	probably damaging	1.00
R4512:Slc16a7	UTSW	10	125,069,308 (GRCm39)	splice site	probably null
R4513:Slc16a7	UTSW	10	125,069,308 (GRCm39)	splice site	probably null
R4514:Slc16a7	UTSW	10	125,069,308 (GRCm39)	splice site	probably null
R5157:Slc16a7	UTSW	10	125,069,333 (GRCm39)	nonsense	probably null
R5247:Slc16a7	UTSW	10	125,067,183 (GRCm39)	missense	probably damaging	1.00
R5385:Slc16a7	UTSW	10	125,130,473 (GRCm39)	missense	possibly damaging	0.85
R6198:Slc16a7	UTSW	10	125,064,084 (GRCm39)	missense	probably benign
R6263:Slc16a7	UTSW	10	125,130,508 (GRCm39)	missense	probably benign	0.16
R6430:Slc16a7	UTSW	10	125,066,887 (GRCm39)	missense	probably damaging	0.97
R7450:Slc16a7	UTSW	10	125,063,920 (GRCm39)	missense	probably benign	0.00
R7680:Slc16a7	UTSW	10	125,066,805 (GRCm39)	missense	probably benign	0.19
R8125:Slc16a7	UTSW	10	125,164,202 (GRCm39)	critical splice donor site	probably null
R9133:Slc16a7	UTSW	10	125,066,536 (GRCm39)	missense	probably benign	0.00
R9301:Slc16a7	UTSW	10	125,066,880 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATGGGCACAGTCAATCTGAAG -3'
(R):5'- CTTAGCAGCTATCAAGGGTGATCC -3'

Sequencing Primer
(F):5'- GGAGATAGAGATAGGACACTGTTCTC -3'
(R):5'- CAAAAGTGTCACGTGAACTGTC -3'

Posted On

2015-02-19