Mutagenetix > Incidental Mutation

Incidental Mutation 'R2110:Slc16a11'

232475

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

040114-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2110 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70212752-70216417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70215320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 80 (G80D)

Ref Sequence

ENSEMBL: ENSMUSP00000115212 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000094055
AA Change: G128D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
AA Change: G128D

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 damaging
Transcript: ENSMUST00000126296
AA Change: G128D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938
AA Change: G128D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126388
AA Change: G128D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
AA Change: G128D

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 damaging
Transcript: ENSMUST00000136328
AA Change: G80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938
AA Change: G80D

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 damaging
Transcript: ENSMUST00000171032
AA Change: G128D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
AA Change: G128D

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,407,589		probably benign	Het
Ablim1	T	C	19: 57,043,813	D638G	possibly damaging	Het
Adam1b	A	G	5: 121,500,714		probably benign	Het
Aim2	T	C	1: 173,459,713	M93T	probably benign	Het
Alpk2	T	C	18: 65,307,080	E414G	possibly damaging	Het
Ap1b1	T	C	11: 5,015,613	F51L	probably damaging	Het
Bard1	T	A	1: 71,075,391	K144*	probably null	Het
Begain	G	T	12: 109,033,917	Y514*	probably null	Het
Ccdc186	A	T	19: 56,800,142	I545N	possibly damaging	Het
Cfap43	T	C	19: 47,835,758	Y58C	probably damaging	Het
Cfap54	A	T	10: 92,886,367	D2437E	unknown	Het
Chd2	A	G	7: 73,429,987	S1722P	probably benign	Het
Clec5a	C	T	6: 40,585,203	G9E	probably damaging	Het
Cog4	A	G	8: 110,858,582	Y292C	possibly damaging	Het
Col3a1	C	T	1: 45,330,145	P331S	unknown	Het
Ctsk	T	C	3: 95,506,677	I245T	probably benign	Het
Dthd1	T	C	5: 62,821,908	Y304H	probably damaging	Het
Dthd1	T	C	5: 62,842,879	S515P	probably damaging	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Eci2	A	G	13: 34,990,716		probably null	Het
Ecm1	C	T	3: 95,735,942	A349T	probably benign	Het
Efemp2	A	G	19: 5,475,162	E32G	probably damaging	Het
Flt4	C	A	11: 49,625,304	T78K	probably benign	Het
Foxg1	A	G	12: 49,384,925		probably benign	Het
Fv1	T	C	4: 147,870,162	V395A	possibly damaging	Het
Gcfc2	C	A	6: 81,923,778	D24E	probably benign	Het
Gm10696	A	G	3: 94,175,527	S326P	probably damaging	Het
Gpha2	T	G	19: 6,227,502	V96G	probably damaging	Het
Gse1	A	G	8: 120,566,980	Y228C	probably damaging	Het
Hmgxb3	T	C	18: 61,155,386	R470G	possibly damaging	Het
Ildr1	A	G	16: 36,721,979	E247G	probably damaging	Het
Ktn1	T	A	14: 47,693,888	M646K	possibly damaging	Het
Lrrc37a	T	A	11: 103,497,822	H2259L	unknown	Het
Map1b	A	T	13: 99,431,121	H1697Q	unknown	Het
Mdn1	A	G	4: 32,700,409	E1456G	probably damaging	Het
Mta1	C	T	12: 113,131,628	T467I	probably damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Ncoa5	C	A	2: 165,012,918	D95Y	possibly damaging	Het
Nfatc1	A	T	18: 80,635,664	C836*	probably null	Het
Nr3c2	T	C	8: 76,908,527	S86P	possibly damaging	Het
Nup153	A	G	13: 46,683,928	S1273P	probably benign	Het
Olfr965	G	A	9: 39,719,722	R165Q	probably benign	Het
Pcsk5	C	A	19: 17,473,059	G1142C	probably damaging	Het
Pgghg	A	G	7: 140,943,540	D244G	possibly damaging	Het
Ppargc1b	G	A	18: 61,311,250	P297S	probably benign	Het
Rad52	A	T	6: 119,920,894	Q356L	possibly damaging	Het
Rhpn1	T	A	15: 75,713,234	F507I	probably damaging	Het
Rhpn2	T	C	7: 35,377,008	M328T	probably benign	Het
Rnf19a	T	C	15: 36,254,519	I298V	possibly damaging	Het
Rwdd2a	T	C	9: 86,574,131	V120A	probably benign	Het
Scml2	G	T	X: 161,231,446	E566D	possibly damaging	Het
Serpina3a	G	A	12: 104,116,222	A85T	probably damaging	Het
Slc5a5	A	T	8: 70,889,751		probably null	Het
Sparcl1	T	A	5: 104,088,423	Q488L	probably damaging	Het
Spg21	T	A	9: 65,484,429		probably null	Het
Sry	T	C	Y: 2,662,901	H253R	unknown	Het
Swt1	A	G	1: 151,403,885	S391P	probably damaging	Het
Uhrf2	A	G	19: 30,056,488	Y200C	probably damaging	Het
Utp15	T	C	13: 98,254,985	H248R	probably damaging	Het
Utp20	A	G	10: 88,767,451		probably null	Het
Vcan	T	A	13: 89,693,303	D414V	probably damaging	Het
Vmn1r56	A	T	7: 5,196,180	M146K	probably damaging	Het
Wdr66	G	A	5: 123,254,375		probably benign	Het
Zfp143	A	T	7: 110,086,246	K399N	probably damaging	Het
Zfp516	A	G	18: 82,957,411	D578G	probably damaging	Het
Zfp90	G	A	8: 106,425,488	C611Y	probably damaging	Het
Znrd1as	T	C	17: 36,965,444	V306A	possibly 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
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
R5901:Slc16a11	UTSW	11	70216346	missense	probably benign	0.02
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'- CTCGCTGGTAAGAAGAGTGG -3'
(R):5'- CTAAAGGTCTTAGCAAGGCGCC -3'

Sequencing Primer
(F):5'- TGGGGACAGGAACTTCTTATAGG -3'
(R):5'- TCTTAGCAAGGCGCCACAGG -3'

Posted On

2014-09-18