Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02591:Tmco2'

299753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmco2

Ensembl Gene

ENSMUSG00000078577

Gene Name

transmembrane and coiled-coil domains 2

Synonyms

1700028F16Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02591

Quality Score

Status

Chromosome

Chromosomal Location

120962848-120966414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120962987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 171 (D171N)

Ref Sequence

ENSEMBL: ENSMUSP00000101875 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000106268
AA Change: D171N

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

SMART Domains

Protein: ENSMUSP00000101875
Gene: ENSMUSG00000078577
AA Change: D171N

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
4921504E06Rik	A	T	2: 19,485,249 (GRCm39)	F448I	probably benign	Het
Afg3l1	T	C	8: 124,212,748 (GRCm39)	F170L	probably damaging	Het
Aox1	A	T	1: 58,398,158 (GRCm39)	R1300*	probably null	Het
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Ckap4	T	C	10: 84,364,454 (GRCm39)	D203G	probably damaging	Het
Dsg1c	A	G	18: 20,408,249 (GRCm39)	N433D	probably damaging	Het
Eapp	T	C	12: 54,739,607 (GRCm39)	N70S	probably damaging	Het
Eno3	A	T	11: 70,552,853 (GRCm39)	D378V	probably damaging	Het
Ep400	T	A	5: 110,881,638 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,082,031 (GRCm39)	I558F	probably damaging	Het
Fermt1	A	T	2: 132,776,786 (GRCm39)	M234K	possibly damaging	Het
Fgfr1op2	A	G	6: 146,490,344 (GRCm39)	Q81R	probably damaging	Het
Gpm6a	C	T	8: 55,511,954 (GRCm39)	A276V	probably damaging	Het
Hecw1	C	A	13: 14,531,821 (GRCm39)		probably benign	Het
Ikbip	G	T	10: 90,932,154 (GRCm39)	C266F	probably damaging	Het
Lpar2	C	T	8: 70,276,700 (GRCm39)	A163V	probably benign	Het
Med17	T	A	9: 15,181,657 (GRCm39)	H31L	probably damaging	Het
Or5g25	C	A	2: 85,478,487 (GRCm39)	M59I	probably damaging	Het
Otoa	T	C	7: 120,755,053 (GRCm39)	F992L	probably damaging	Het
Ptprd	T	C	4: 75,900,287 (GRCm39)	H864R	probably damaging	Het
Samd9l	A	C	6: 3,375,760 (GRCm39)	C500W	possibly damaging	Het
Sarm1	A	T	11: 78,378,178 (GRCm39)	Y501N	probably damaging	Het
Selp	A	T	1: 163,957,702 (GRCm39)	H277L	probably damaging	Het
Slc39a8	T	G	3: 135,590,381 (GRCm39)	L358R	probably damaging	Het
Spi1	T	A	2: 90,927,295 (GRCm39)	M1K	probably null	Het
Thsd1	A	G	8: 22,748,743 (GRCm39)	E477G	probably damaging	Het
Tlr1	C	T	5: 65,084,059 (GRCm39)	V173M	probably damaging	Het
Ugt2b1	A	G	5: 87,065,563 (GRCm39)	L492P	probably damaging	Het
Vmn2r70	A	T	7: 85,214,153 (GRCm39)	I333K	probably damaging	Het
Zfp598	C	A	17: 24,896,478 (GRCm39)	P185Q	probably damaging	Het
Zfp711	T	A	X: 111,542,391 (GRCm39)	M474K	probably benign	Het
Zscan18	T	C	7: 12,509,206 (GRCm39)		probably benign	Het

Other mutations in Tmco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03376:Tmco2	APN	4	120,966,249 (GRCm39)	missense	probably benign	0.13
R0556:Tmco2	UTSW	4	120,966,314 (GRCm39)	missense	probably damaging	1.00
R5386:Tmco2	UTSW	4	120,963,181 (GRCm39)	missense	probably damaging	1.00
R5535:Tmco2	UTSW	4	120,963,190 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16