Mutagenetix > Incidental Mutations

Incidental Mutation 'R5901:Slc16a11'

456336

Institutional Source

Beutler Lab

Gene Symbol

Slc16a11

Ensembl Gene

ENSMUSG00000040938

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 11

Synonyms

MNCb-2717

MMRRC Submission

043239-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70212752-70216417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70216346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 394 (I394V)

Ref Sequence

ENSEMBL: ENSMUSP00000115212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060010] [ENSMUST00000094055] [ENSMUST00000123716] [ENSMUST00000126296] [ENSMUST00000126388] [ENSMUST00000136328] [ENSMUST00000141290] [ENSMUST00000153993] [ENSMUST00000159867] [ENSMUST00000171032] [ENSMUST00000190533]

AlphaFold

Q5NC32

Predicted Effect

probably benign
Transcript: ENSMUST00000060010

SMART Domains

Protein: ENSMUSP00000053218
Gene: ENSMUSG00000044367

Domain	Start	End	E-Value	Type
Pfam:MFS_1	14	277	1.7e-22	PFAM
Pfam:MFS_1	219	423	6.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094055
AA Change: I442V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
AA Change: I442V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	340	5.5e-24	PFAM
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	380	402	N/A	INTRINSIC
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122852

Predicted Effect

probably benign
Transcript: ENSMUST00000123716

SMART Domains

Protein: ENSMUSP00000114871
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126296

SMART Domains

Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	196	2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126388
AA Change: I442V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
AA Change: I442V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	340	5.5e-24	PFAM
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	380	402	N/A	INTRINSIC
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131468

Predicted Effect

probably benign
Transcript: ENSMUST00000136328
AA Change: I394V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938
AA Change: I394V

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:MFS_1	66	297	8.3e-10	PFAM
low complexity region	306	324	N/A	INTRINSIC
transmembrane domain	332	354	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141290

SMART Domains

Protein: ENSMUSP00000116316
Gene: ENSMUSG00000044367

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149880

Predicted Effect

probably benign
Transcript: ENSMUST00000153993

SMART Domains

Protein: ENSMUSP00000122586
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	56	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159867

SMART Domains

Protein: ENSMUSP00000124687
Gene: ENSMUSG00000044367

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171032
AA Change: I442V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
AA Change: I442V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	316	1.8e-24	PFAM
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	380	402	N/A	INTRINSIC
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190533

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	T	A	11: 99,837,337	S227C	unknown	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adamts15	C	T	9: 30,902,490	R793H	probably damaging	Het
Ankra2	A	G	13: 98,271,136	E38G	probably damaging	Het
Aqp8	G	A	7: 123,462,584	C8Y	probably damaging	Het
Atg9b	A	G	5: 24,392,019		probably benign	Het
Atp6v1b1	A	G	6: 83,758,357	E469G	possibly damaging	Het
B4gat1	T	A	19: 5,039,213	Y79*	probably null	Het
BB019430	T	A	10: 58,704,192		noncoding transcript	Het
Calhm3	T	C	19: 47,157,613	Y51C	probably damaging	Het
Ccr2	C	T	9: 124,106,202	T173I	possibly damaging	Het
Cfap43	T	C	19: 47,897,099	D359G	probably damaging	Het
Dopey2	A	G	16: 93,769,751	E1022G	possibly damaging	Het
Drd2	T	A	9: 49,406,959	C400*	probably null	Het
Efcab7	T	A	4: 99,909,744	H495Q	probably damaging	Het
Faim	T	C	9: 98,992,142	V29A	probably benign	Het
Fancd2	T	C	6: 113,549,365	S350P	probably damaging	Het
Fbxw16	T	C	9: 109,441,217	E152G	probably benign	Het
Kif17	T	C	4: 138,298,332		probably null	Het
Kif24	A	T	4: 41,428,604	S119T	probably damaging	Het
Ly6k	A	T	15: 74,798,580	S38T	probably benign	Het
Mapk10	A	G	5: 102,913,292	S430P	probably damaging	Het
Megf10	G	A	18: 57,277,108	A654T	probably benign	Het
Mlph	T	C	1: 90,939,814	L450P	probably damaging	Het
Otof	T	C	5: 30,374,979	D1603G	probably damaging	Het
Pdcd11	T	C	19: 47,128,332	S1580P	possibly damaging	Het
Rad54b	G	A	4: 11,595,919	R232H	possibly damaging	Het
Sar1b	C	T	11: 51,779,749	T40I	possibly damaging	Het
Scyl2	C	T	10: 89,660,262	S242N	probably benign	Het
Sema4b	A	G	7: 80,224,967	N702D	possibly damaging	Het
Stard9	A	C	2: 120,701,370	T2703P	probably damaging	Het
Stat5b	A	T	11: 100,804,907	L83Q	possibly damaging	Het
Tas2r119	T	A	15: 32,177,786	V166D	possibly damaging	Het
Tmem117	T	A	15: 94,714,958	I125N	probably benign	Het
Tmem39a	T	C	16: 38,573,206	I89T	probably benign	Het
Ubr4	T	A	4: 139,451,254	H3272Q	probably damaging	Het
Vmn1r7	T	C	6: 57,024,606	E223G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,588	V658A	probably damaging	Het
Xirp2	A	T	2: 67,513,066	T1884S	possibly damaging	Het
Xkr4	A	T	1: 3,216,678	F430I	probably damaging	Het
Yae1d1	A	G	13: 17,989,615	M1T	probably null	Het
Zfand4	T	C	6: 116,288,123	V183A	probably damaging	Het

Other mutations in Slc16a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02678:Slc16a11	APN	11	70215416	missense	probably damaging	0.99
shanxi	UTSW	11	70215651	nonsense	probably null
taihang	UTSW	11	70215734	splice site	probably null
R0619:Slc16a11	UTSW	11	70215032	missense	probably damaging	1.00
R2044:Slc16a11	UTSW	11	70215651	nonsense	probably null
R2110:Slc16a11	UTSW	11	70215320	missense	probably damaging	1.00
R4408:Slc16a11	UTSW	11	70215734	splice site	probably null
R4633:Slc16a11	UTSW	11	70216379	splice site	probably null
R5255:Slc16a11	UTSW	11	70215432	missense	probably damaging	1.00
R5544:Slc16a11	UTSW	11	70215000	splice site	probably null
R6116:Slc16a11	UTSW	11	70215436	missense	probably benign	0.08
R6993:Slc16a11	UTSW	11	70216016	missense	possibly damaging	0.60
R7658:Slc16a11	UTSW	11	70215317	missense	possibly damaging	0.96
R9043:Slc16a11	UTSW	11	70215694	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAGGCTTCCTAAGGGATAAGACAG -3'
(R):5'- AACTGGGCAGACATCATCCC -3'

Sequencing Primer
(F):5'- TAAGACAGGAGACTTCAGTGCCTC -3'
(R):5'- GGGCAGACATCATCCCTCACC -3'

Posted On

2017-02-15