Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01115:Tmem115'

51950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem115

Ensembl Gene

ENSMUSG00000010045

Gene Name

transmembrane protein 115

Synonyms

Pl6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

IGL01115

Quality Score

Status

Chromosome

Chromosomal Location

107533945-107538673 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107534582 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 35 (L35Q)

Ref Sequence

ENSEMBL: ENSMUSP00000010189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010189] [ENSMUST00000041459] [ENSMUST00000195235]

Predicted Effect

probably damaging
Transcript: ENSMUST00000010189
AA Change: L35Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: L35Q

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
DUF1751	49	151	4.14e-41	SMART
transmembrane domain	164	183	N/A	INTRINSIC
transmembrane domain	190	208	N/A	INTRINSIC
transmembrane domain	223	245	N/A	INTRINSIC
Blast:DUF1751	304	347	2e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000041459

SMART Domains

Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194344

Predicted Effect

probably benign
Transcript: ENSMUST00000195235

SMART Domains

Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4430402I18Rik	T	C	19: 28,944,442		probably null	Het
Abcc10	T	C	17: 46,310,426	T934A	probably benign	Het
Ankzf1	T	C	1: 75,192,615	L55P	probably damaging	Het
Aoc1	T	C	6: 48,906,197	S336P	probably damaging	Het
Bmper	T	C	9: 23,399,689		probably benign	Het
Capza2	A	G	6: 17,654,123	N58S	probably damaging	Het
Cdca2	A	G	14: 67,714,697	V75A	probably damaging	Het
Chmp7	A	G	14: 69,721,323	S181P	probably damaging	Het
Colq	A	G	14: 31,545,128		probably benign	Het
Dennd5b	A	G	6: 149,009,748		probably benign	Het
Has3	A	G	8: 106,878,688	T509A	probably benign	Het
Hsh2d	T	C	8: 72,200,619	S282P	probably damaging	Het
Impg2	C	T	16: 56,259,440	P536S	possibly damaging	Het
Naip1	T	A	13: 100,443,720		probably null	Het
Napb	T	C	2: 148,707,169	Y111C	probably damaging	Het
Olfr1132	T	C	2: 87,635,384	D121G	probably damaging	Het
Osmr	A	G	15: 6,847,201		probably benign	Het
Pcdh10	A	G	3: 45,392,775	T1002A	probably damaging	Het
Plcg2	T	C	8: 117,557,329	W122R	probably damaging	Het
Prpf19	C	T	19: 10,900,203	T204M	probably damaging	Het
Ptbp1	T	A	10: 79,859,962		probably benign	Het
Ptpre	T	A	7: 135,670,764	D402E	probably damaging	Het
Siglec1	T	C	2: 131,074,502	N1176S	probably benign	Het
Son	A	G	16: 91,659,458	T1698A	probably benign	Het
Speer2	C	T	16: 69,861,651	W42*	probably null	Het
Taf5	T	C	19: 47,075,082	V357A	probably benign	Het
Tctn1	A	G	5: 122,264,207	S55P	probably benign	Het
Tmem30c	T	A	16: 57,276,117		probably benign	Het
Tmprss7	T	C	16: 45,660,789	D678G	probably damaging	Het
Ugt1a7c	A	T	1: 88,095,245	Q42L	probably damaging	Het
Unc13b	T	A	4: 43,258,492	V4099E	probably damaging	Het
Usp36	G	A	11: 118,285,960	L11F	probably damaging	Het
Zfp955a	T	A	17: 33,242,580	K193*	probably null	Het
Zranb2	T	C	3: 157,546,691		probably benign	Het

Other mutations in Tmem115

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Tmem115	APN	9	107534645	missense	possibly damaging	0.94
IGL01386:Tmem115	APN	9	107534660	missense	probably damaging	1.00
IGL01705:Tmem115	APN	9	107535204	missense	probably benign	0.44
R0746:Tmem115	UTSW	9	107537999	missense	probably benign	0.11
R1511:Tmem115	UTSW	9	107534975	missense	probably benign	0.04
R4182:Tmem115	UTSW	9	107535283	missense	probably damaging	1.00
R4770:Tmem115	UTSW	9	107534957	missense	probably benign	0.43
R5097:Tmem115	UTSW	9	107534860	missense	probably benign	0.03
R5141:Tmem115	UTSW	9	107537942	missense	probably benign	0.01
R5687:Tmem115	UTSW	9	107534855	missense	probably benign	0.17
R7145:Tmem115	UTSW	9	107535086	missense	probably benign	0.30
R8299:Tmem115	UTSW	9	107534546	missense	possibly damaging	0.94
R8353:Tmem115	UTSW	9	107534798	missense	probably benign	0.44
R8453:Tmem115	UTSW	9	107534798	missense	probably benign	0.44
X0067:Tmem115	UTSW	9	107534513	missense	probably damaging	0.99

Posted On

2013-06-21