Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02678:Slc16a11'

303254

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc16a11

Ensembl Gene

ENSMUSG00000040938

Gene Name

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

Synonyms

MNCb-2717

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02678

Quality Score

Status

Chromosome

Chromosomal Location

70104717-70107239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70106242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 112 (L112S)

Ref Sequence

ENSEMBL: ENSMUSP00000115212 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000094055
AA Change: L160S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
AA Change: L160S

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

possibly damaging
Transcript: ENSMUST00000126296
AA Change: L160S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938
AA Change: L160S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126388
AA Change: L160S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
AA Change: L160S

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

possibly damaging
Transcript: ENSMUST00000171032
AA Change: L160S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
AA Change: L160S

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 damaging
Transcript: ENSMUST00000136328
AA Change: L112S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938
AA Change: L112S

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

noncoding transcript
Transcript: ENSMUST00000144494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149880

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

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: 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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,035,867 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,410,177 (GRCm39)	E272G	probably damaging	Het
Alcam	G	A	16: 52,094,401 (GRCm39)	P416S	probably damaging	Het
B3galt1	A	G	2: 67,949,254 (GRCm39)	H323R	probably benign	Het
Bahcc1	G	A	11: 120,163,697 (GRCm39)	S665N	probably damaging	Het
Birc6	T	C	17: 74,956,898 (GRCm39)	S3631P	probably damaging	Het
Capn3	A	C	2: 120,333,479 (GRCm39)	N621T	probably damaging	Het
Cblif	T	C	19: 11,725,839 (GRCm39)	M43T	probably damaging	Het
Ccdc162	G	A	10: 41,437,151 (GRCm39)	H480Y	probably damaging	Het
Ccr2	T	A	9: 123,906,783 (GRCm39)	D354E	probably benign	Het
Cdc42bpb	T	G	12: 111,292,530 (GRCm39)	D335A	probably damaging	Het
Cdcp3	A	G	7: 130,830,646 (GRCm39)	Y360C	probably damaging	Het
Chrd	G	T	16: 20,552,770 (GRCm39)	R89L	probably damaging	Het
Cops2	T	C	2: 125,686,831 (GRCm39)	R91G	probably benign	Het
Ddi1	T	C	9: 6,266,106 (GRCm39)	T88A	probably benign	Het
Dnai1	A	C	4: 41,602,917 (GRCm39)	E140A	probably benign	Het
Eif1ad17	C	A	12: 87,978,946 (GRCm39)	P110Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,814 (GRCm39)	D2063G	probably damaging	Het
Gdpd4	A	T	7: 97,623,584 (GRCm39)		probably benign	Het
Gng7	C	A	10: 80,787,518 (GRCm39)	L48F	probably damaging	Het
Htt	G	T	5: 35,057,246 (GRCm39)	C2725F	probably damaging	Het
Inpp4b	A	G	8: 82,583,373 (GRCm39)	K159R	probably damaging	Het
Insr	G	T	8: 3,223,570 (GRCm39)	N854K	probably benign	Het
Ktn1	A	T	14: 47,971,610 (GRCm39)		probably null	Het
Lcat	A	G	8: 106,668,572 (GRCm39)		probably null	Het
Mb21d2	T	C	16: 28,646,801 (GRCm39)	E391G	probably benign	Het
Mms19	A	G	19: 41,942,915 (GRCm39)	S354P	possibly damaging	Het
Mx2	G	A	16: 97,357,320 (GRCm39)		probably null	Het
Mycl	G	A	4: 122,893,776 (GRCm39)	R192Q	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Nipbl	G	T	15: 8,380,594 (GRCm39)	P733T	possibly damaging	Het
Nploc4	A	G	11: 120,280,198 (GRCm39)	I450T	probably benign	Het
Omd	A	T	13: 49,745,757 (GRCm39)	E389V	probably benign	Het
Or8g30	C	T	9: 39,230,217 (GRCm39)	S231N	probably benign	Het
Oxgr1	A	G	14: 120,259,580 (GRCm39)	L209P	probably damaging	Het
Pak1	A	C	7: 97,543,209 (GRCm39)	T291P	probably damaging	Het
Pcmtd1	T	A	1: 7,240,045 (GRCm39)	I338K	probably damaging	Het
Phrf1	A	G	7: 140,840,195 (GRCm39)	D364G	probably damaging	Het
Pomk	G	A	8: 26,473,135 (GRCm39)	P273S	probably damaging	Het
Psg22	A	T	7: 18,453,418 (GRCm39)	I38F	probably damaging	Het
Rbks	G	T	5: 31,830,757 (GRCm39)	T42N	probably damaging	Het
Rrbp1	A	G	2: 143,832,107 (GRCm39)	V20A	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc11a2	T	A	15: 100,310,081 (GRCm39)	M9L	possibly damaging	Het
Slc25a28	A	T	19: 43,655,586 (GRCm39)		probably benign	Het
Slc30a3	G	A	5: 31,245,676 (GRCm39)	R237*	probably null	Het
Slco1a8	A	T	6: 141,954,444 (GRCm39)	Y10N	probably damaging	Het
Smc1b	G	A	15: 84,949,201 (GRCm39)	R1237*	probably null	Het
Smtn	T	C	11: 3,476,353 (GRCm39)	E585G	possibly damaging	Het
Spatc1	A	T	15: 76,176,572 (GRCm39)	D441V	probably damaging	Het
Tenm4	A	G	7: 96,545,426 (GRCm39)	N2481D	probably damaging	Het
Tnks2	A	T	19: 36,823,143 (GRCm39)	I137F	possibly damaging	Het
Trip11	T	C	12: 101,849,649 (GRCm39)	K1472E	probably damaging	Het
Ttn	C	A	2: 76,708,660 (GRCm39)	E1846*	probably null	Het
Vwa8	A	G	14: 79,221,640 (GRCm39)	D532G	probably damaging	Het
Zfp268	A	T	4: 145,349,067 (GRCm39)	H168L	probably damaging	Het
Zfp977	G	A	7: 42,232,419 (GRCm39)	T14I	probably damaging	Het

Other mutations in Slc16a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
shanxi	UTSW	11	70,106,477 (GRCm39)	nonsense	probably null
taihang	UTSW	11	70,106,560 (GRCm39)	splice site	probably null
R0619:Slc16a11	UTSW	11	70,105,858 (GRCm39)	missense	probably damaging	1.00
R2044:Slc16a11	UTSW	11	70,106,477 (GRCm39)	nonsense	probably null
R2110:Slc16a11	UTSW	11	70,106,146 (GRCm39)	missense	probably damaging	1.00
R4408:Slc16a11	UTSW	11	70,106,560 (GRCm39)	splice site	probably null
R4633:Slc16a11	UTSW	11	70,107,205 (GRCm39)	splice site	probably null
R5255:Slc16a11	UTSW	11	70,106,258 (GRCm39)	missense	probably damaging	1.00
R5544:Slc16a11	UTSW	11	70,105,826 (GRCm39)	splice site	probably null
R5901:Slc16a11	UTSW	11	70,107,172 (GRCm39)	missense	probably benign	0.02
R6116:Slc16a11	UTSW	11	70,106,262 (GRCm39)	missense	probably benign	0.08
R6993:Slc16a11	UTSW	11	70,106,842 (GRCm39)	missense	possibly damaging	0.60
R7658:Slc16a11	UTSW	11	70,106,143 (GRCm39)	missense	possibly damaging	0.96
R9043:Slc16a11	UTSW	11	70,106,520 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16