Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00833:Tmco5b'

14483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmco5b

Ensembl Gene

Gene Name

transmembrane and coiled-coil domains 5B

Synonyms

4930563P21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL00833

Quality Score

Status

Chromosome

Chromosomal Location

113285732-113297190 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113296849 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 255 (I255N)

Ref Sequence

ENSEMBL: ENSMUSP00000042247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040856]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040856
AA Change: I255N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: I255N

Domain	Start	End	E-Value	Type
Pfam:TMCO5	28	306	5.4e-121	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,217,180	E350G	probably damaging	Het
Apob	T	C	12: 8,010,101	V2861A	probably benign	Het
Bpifb9a	C	T	2: 154,264,275	Q358*	probably null	Het
Cbfa2t2	T	A	2: 154,528,875	Y423N	probably damaging	Het
Cd209e	A	C	8: 3,852,800	M102R	probably benign	Het
Ddx42	T	A	11: 106,231,178	V173D	possibly damaging	Het
Dnah11	A	G	12: 118,179,580	F443L	probably damaging	Het
Exoc4	G	A	6: 33,971,924	E901K	probably damaging	Het
Gp5	T	C	16: 30,309,466	D130G	possibly damaging	Het
H2-T3	T	G	17: 36,187,041	S327R	probably benign	Het
Myo1e	T	C	9: 70,338,778	I417T	probably damaging	Het
Nasp	A	G	4: 116,602,736	V377A	probably damaging	Het
Nbn	A	G	4: 15,964,320	I132V	probably benign	Het
Nckap5	C	A	1: 126,027,152	K622N	probably damaging	Het
Nlrp4e	G	A	7: 23,340,471	V740I	probably benign	Het
Polr3gl	T	G	3: 96,578,560	D130A	probably damaging	Het
Ptprc	T	C	1: 138,078,492	K784R	possibly damaging	Het
Sycp1	A	G	3: 102,876,301		probably null	Het
Tg	C	T	15: 66,688,801	T1004I	probably benign	Het
Ubr4	G	A	4: 139,393,159		probably null	Het
Zeb1	A	G	18: 5,767,774	T762A	probably benign	Het
Zfp345	T	C	2: 150,472,729	E296G	probably damaging	Het

Other mutations in Tmco5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Tmco5b	APN	2	113287798	splice site	probably benign
IGL01501:Tmco5b	APN	2	113291381	missense	probably null	0.81
IGL02244:Tmco5b	APN	2	113288274	missense	probably damaging	1.00
IGL02899:Tmco5b	APN	2	113296920	missense	probably benign	0.26
R1495:Tmco5b	UTSW	2	113290791	missense	possibly damaging	0.93
R4821:Tmco5b	UTSW	2	113289757	missense	probably benign	0.00
R4972:Tmco5b	UTSW	2	113296993	missense	probably damaging	0.99
R7076:Tmco5b	UTSW	2	113287421	missense	probably damaging	1.00
R7200:Tmco5b	UTSW	2	113291377	missense	probably damaging	1.00
R7750:Tmco5b	UTSW	2	113288264	missense	probably damaging	0.99

Posted On

2012-12-06