Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03376:Tmco2'

420481

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmco2

Ensembl Gene

ENSMUSG00000078577

Gene Name

transmembrane and coiled-coil domains 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

121105651-121109226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121109052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 36 (T36S)

Ref Sequence

ENSEMBL: ENSMUSP00000101875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106268]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000106268
AA Change: T36S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101875
Gene: ENSMUSG00000078577
AA Change: T36S

Domain	Start	End	E-Value	Type
Pfam:TMCCDC2	11	182	2.8e-97	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,102,159		probably benign	Het
Ccdc122	A	G	14: 77,068,912	E41G	probably damaging	Het
Cdh3	C	T	8: 106,541,404	T357I	probably benign	Het
Cfap57	T	A	4: 118,584,720	Q717L	probably damaging	Het
Cfap58	A	T	19: 48,034,725	T859S	possibly damaging	Het
Cmtr1	C	T	17: 29,691,411	R497C	probably benign	Het
Csmd2	T	C	4: 128,517,671	I2494T	probably benign	Het
Dmkn	C	T	7: 30,771,242	T385I	possibly damaging	Het
Eml3	A	G	19: 8,933,790	D260G	probably damaging	Het
Gbf1	T	C	19: 46,262,521	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,356,255	R32H	probably damaging	Het
Hpx	C	T	7: 105,592,251		probably benign	Het
Ikzf3	T	A	11: 98,488,953	H163L	probably damaging	Het
Irak3	G	A	10: 120,146,636		probably benign	Het
Itih5	G	A	2: 10,206,773	V275I	probably benign	Het
Klc1	G	T	12: 111,775,953	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,078,232	*108W	probably null	Het
Mcph1	T	C	8: 18,596,973	S31P	probably damaging	Het
Mettl4	A	T	17: 94,735,371	S346T	probably damaging	Het
Myo3a	A	T	2: 22,600,074		probably benign	Het
Olfr703	T	A	7: 106,845,470	N286K	probably damaging	Het
Otol1	A	G	3: 70,027,512	E279G	probably damaging	Het
Pappa	T	A	4: 65,196,834	N722K	probably benign	Het
Pramel7	A	G	2: 87,489,603	S449P	probably damaging	Het
Rassf9	A	G	10: 102,545,198	N145S	probably damaging	Het
Robo2	T	C	16: 73,956,492	I158M	probably damaging	Het
Sbf1	A	G	15: 89,289,016		probably benign	Het
Slc30a8	C	T	15: 52,306,457	R27*	probably null	Het
Tns4	T	C	11: 99,078,556	S360G	probably benign	Het
Vwa8	A	G	14: 79,183,134		probably null	Het
Wwc1	C	T	11: 35,852,294	R900Q	possibly damaging	Het
Zzef1	T	C	11: 72,876,551		probably benign	Het

Other mutations in Tmco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02591:Tmco2	APN	4	121105790	missense	probably damaging	1.00
R0556:Tmco2	UTSW	4	121109117	missense	probably damaging	1.00
R5386:Tmco2	UTSW	4	121105984	missense	probably damaging	1.00
R5535:Tmco2	UTSW	4	121105993	missense	possibly damaging	0.92

Posted On

2016-08-02