Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02244:Tmco5b'

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286099

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

Is this an essential gene?

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

Stock #

IGL02244

Quality Score

Status

Chromosome

Chromosomal Location

113285732-113297190 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113288274 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 114 (E114G)

Ref Sequence

ENSEMBL: ENSMUSP00000042247 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040856
AA Change: E114G

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

SMART Domains

Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: E114G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176208

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 91,056,197	T17K	probably benign	Het
Agbl1	T	C	7: 76,766,372	S714P	probably damaging	Het
Araf	A	G	X: 20,853,596		probably benign	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Armc8	A	T	9: 99,483,174	D638E	probably benign	Het
Bpifb5	C	T	2: 154,225,148	T107I	possibly damaging	Het
Ces1e	A	C	8: 93,212,349		probably null	Het
Col4a3	C	A	1: 82,669,771		probably benign	Het
Col4a5	A	G	X: 141,599,673		probably benign	Het
Crocc	T	C	4: 141,037,920	H477R	probably benign	Het
Dgkd	C	A	1: 87,915,141	N130K	probably benign	Het
Dock1	C	T	7: 134,777,445	Q634*	probably null	Het
Dzip3	C	T	16: 48,980,988	V58I	probably benign	Het
Fndc3a	A	G	14: 72,556,367		probably benign	Het
Glp2r	C	T	11: 67,721,991	R379H	probably damaging	Het
Kctd12b	T	A	X: 153,689,334	M120L	probably benign	Het
Krt33b	A	G	11: 100,025,363	V258A	probably benign	Het
Lpin1	T	A	12: 16,541,769	N819I	probably damaging	Het
Lurap1l	T	C	4: 80,953,629	S120P	probably damaging	Het
Lysmd4	T	C	7: 67,225,924	S112P	probably damaging	Het
Myo1e	A	G	9: 70,367,689	K708R	probably benign	Het
Nr3c1	T	A	18: 39,421,557		probably benign	Het
Nup62cl	G	T	X: 140,022,031	N239K	probably benign	Het
Nwd1	A	T	8: 72,707,582	E1269V	probably damaging	Het
Olfr676	C	T	7: 105,035,945	T249M	probably damaging	Het
Pcdh9	A	C	14: 93,326,768	L1084R	probably damaging	Het
Plxnd1	A	G	6: 115,978,257	M543T	probably benign	Het
Prss53	T	A	7: 127,888,792	T173S	possibly damaging	Het
Reep2	C	A	18: 34,840,754		probably benign	Het
Rp1	T	C	1: 4,348,780	D703G	probably benign	Het
Sbf2	T	G	7: 110,560,295	D36A	probably damaging	Het
Sh3kbp1	C	T	X: 159,803,728	R99W	probably damaging	Het
Sis	T	A	3: 72,956,190	R238S	probably benign	Het
Slc35e2	T	A	4: 155,618,562	V344D	probably damaging	Het
Specc1	G	A	11: 62,128,368	V678I	probably benign	Het
Supt6	T	C	11: 78,232,797	D49G	possibly damaging	Het
Tecpr1	G	A	5: 144,210,003	A515V	probably benign	Het
Tlr4	G	A	4: 66,834,061		probably null	Het
Tspear	A	T	10: 77,852,856		probably benign	Het
Txlnb	T	A	10: 17,843,368	V649E	probably benign	Het
Utp20	A	G	10: 88,815,956		probably benign	Het
Virma	G	A	4: 11,546,031	R1673Q	probably damaging	Het
Vmn2r70	T	A	7: 85,565,003	T314S	probably benign	Het
Zfp938	G	T	10: 82,226,072	T238K	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
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

2015-04-16