Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02899:Tmco5b'

363524

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmco5b

Ensembl Gene

ENSMUSG00000041255

Gene Name

transmembrane and coiled-coil domains 5B

Synonyms

4930563P21Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02899

Quality Score

Status

Chromosome

Chromosomal Location

113285732-113297190 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113296920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 279 (M279V)

Ref Sequence

ENSEMBL: ENSMUSP00000042247 (fasta)

Gene Model

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

AlphaFold

Q80X59

Predicted Effect

probably benign
Transcript: ENSMUST00000040856
AA Change: M279V

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: M279V

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	C	A	9: 103,277,574	V173L	probably damaging	Het
Arfgef2	A	G	2: 166,869,051		probably benign	Het
Btbd7	A	G	12: 102,837,662	L373P	probably damaging	Het
Capn3	A	G	2: 120,491,901	N414S	possibly damaging	Het
Ccdc186	A	T	19: 56,793,488	I753N	probably benign	Het
Ccser2	G	A	14: 36,940,759	T156I	probably benign	Het
Celsr1	A	G	15: 86,031,726	M682T	probably damaging	Het
Cep97	C	A	16: 55,918,540	S267I	probably damaging	Het
Dhx35	A	G	2: 158,801,450	Y39C	probably damaging	Het
Dscam	A	T	16: 96,709,247	D937E	probably damaging	Het
Elmod2	A	G	8: 83,316,933	Y202H	probably damaging	Het
Fyco1	T	C	9: 123,830,331	N260S	possibly damaging	Het
Gm5591	A	G	7: 38,519,418	L677P	probably damaging	Het
Gmppa	A	G	1: 75,441,830		probably null	Het
Hltf	C	T	3: 20,099,817	T639I	probably damaging	Het
Kpnb1	T	C	11: 97,175,786	Y321C	probably damaging	Het
Lgr4	G	A	2: 109,918,253	G45R	probably damaging	Het
Ltn1	T	C	16: 87,382,659	D1538G	probably benign	Het
Maf1	T	A	15: 76,353,020		probably benign	Het
Morn5	T	C	2: 36,055,037	F91S	probably damaging	Het
Ncan	C	T	8: 70,115,048	R138H	possibly damaging	Het
Olfr1328	A	T	4: 118,934,662	M62K	probably damaging	Het
Olfr203	G	T	16: 59,303,286	L44F	probably damaging	Het
Parg	T	C	14: 32,238,574	L82S	probably damaging	Het
Ppp2r2b	A	T	18: 42,645,809	H417Q	probably damaging	Het
Rb1cc1	T	C	1: 6,264,583	L98P	probably damaging	Het
Ryr1	C	A	7: 29,048,795	V3752L	possibly damaging	Het
Slc25a12	A	G	2: 71,279,635	L489P	probably damaging	Het
Slc38a8	C	T	8: 119,485,543	V354M	probably benign	Het
Slf2	A	G	19: 44,942,020	E512G	probably benign	Het
Tarbp1	A	G	8: 126,453,844	M597T	probably damaging	Het
Tgfb3	G	A	12: 86,069,776	R163C	probably damaging	Het
Ttll9	G	A	2: 153,002,951	G413D	probably damaging	Het
Tut1	A	G	19: 8,962,387	D245G	probably damaging	Het
Usf3	T	A	16: 44,221,226	V2023E	probably damaging	Het
Vps33a	C	T	5: 123,531,176	G554D	probably damaging	Het
Zfp27	C	A	7: 29,896,255	R95M	possibly damaging	Het

Other mutations in Tmco5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Tmco5b	APN	2	113296849	missense	probably damaging	0.99
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
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

2015-12-18