Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03093:Tmco1'

418440

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmco1

Ensembl Gene

ENSMUSG00000052428

Gene Name

transmembrane and coiled-coil domains 1

Synonyms

ESTM39, 4930403O06Rik, 1190006A08Rik

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL03093

Quality Score

Status

Chromosome

Chromosomal Location

167308378-167333978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167316279 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 82 (D82G)

Ref Sequence

ENSEMBL: ENSMUSP00000142042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097473] [ENSMUST00000195015]

Predicted Effect

probably damaging
Transcript: ENSMUST00000097473
AA Change: D82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095081
Gene: ENSMUSG00000052428
AA Change: D82G

Domain	Start	End	E-Value	Type
Pfam:DUF106	3	166	6.4e-47	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000193101
AA Change: D22G

Predicted Effect

unknown
Transcript: ENSMUST00000193446
AA Change: D93G

Predicted Effect

probably damaging
Transcript: ENSMUST00000195015
AA Change: D82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142042
Gene: ENSMUSG00000052428
AA Change: D82G

Domain	Start	End	E-Value	Type
Pfam:DUF106	3	166	2.7e-51	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, postnatal growth retardation, delayed osteogenesis, craniofacial anomalies, enlarged brain ventricles, impaired coordination and spatial recognition memory, abnormal calcium ion homeostasis, and decreased survivor rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	A	G	19: 53,231,207	D121G	probably damaging	Het
Cacna1s	A	G	1: 136,116,064	D1380G	probably benign	Het
Clca3a1	T	C	3: 144,747,501	Y487C	probably damaging	Het
Coro2a	A	G	4: 46,544,158	S278P	possibly damaging	Het
Creb3l3	A	G	10: 81,091,213	S128P	probably benign	Het
Dab2	A	G	15: 6,436,411	R697G	probably damaging	Het
Erap1	T	C	13: 74,675,280	F811S	probably benign	Het
Fam170b	A	G	14: 32,835,525	S106G	probably damaging	Het
Galk2	T	C	2: 125,929,643	L196P	probably damaging	Het
Gan	T	C	8: 117,183,575	M81T	probably benign	Het
Gemin2	A	G	12: 59,021,725	T197A	probably benign	Het
Hemgn	A	T	4: 46,396,504	M244K	probably benign	Het
Htr6	A	G	4: 139,061,769	F325S	probably damaging	Het
Igkv9-120	A	G	6: 68,050,414	D104G	probably damaging	Het
Itpr2	A	C	6: 146,379,510	I216S	probably damaging	Het
Lingo1	T	C	9: 56,619,464	I614V	possibly damaging	Het
Mep1b	C	T	18: 21,093,653	T524M	probably benign	Het
Mtif2	A	G	11: 29,530,702		probably benign	Het
Mylk	G	A	16: 34,912,192	R614H	possibly damaging	Het
Olfr601	T	C	7: 103,358,239		probably benign	Het
Olfr706	T	C	7: 106,886,203	T205A	probably benign	Het
Pabpc4	G	A	4: 123,286,709	D75N	probably damaging	Het
Paics	T	A	5: 76,961,508		probably null	Het
Prl	T	A	13: 27,064,887	I172N	probably benign	Het
Ripk2	A	G	4: 16,152,056	S168P	probably damaging	Het
Siglecf	T	C	7: 43,352,441	V225A	probably damaging	Het
Slc36a1	A	G	11: 55,219,604	I86V	probably benign	Het
Slc6a13	A	G	6: 121,332,448	Y306C	probably damaging	Het
Soat2	T	A	15: 102,157,643	L250Q	probably damaging	Het
Tex38	A	G	4: 115,780,565	S14P	probably damaging	Het
Tm2d1	A	T	4: 98,380,684	C59S	possibly damaging	Het
Tmem245	G	A	4: 56,886,019	R866W	probably damaging	Het
Tnip1	G	T	11: 54,940,826	Y7*	probably null	Het
Trp73	A	G	4: 154,104,873	M48T	probably benign	Het
Tslp	T	C	18: 32,815,559		probably benign	Het
Usp47	T	C	7: 112,089,620	F745L	probably damaging	Het
Vmn2r53	T	A	7: 12,600,864	T290S	probably benign	Het
Wdr1	T	C	5: 38,561,129	D30G	probably benign	Het
Zkscan2	T	C	7: 123,494,850	Y247C	probably benign	Het

Other mutations in Tmco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Tmco1	APN	1	167316268	missense	probably damaging	1.00
IGL02619:Tmco1	APN	1	167326028	splice site	probably benign
R0317:Tmco1	UTSW	1	167325893	missense	probably damaging	0.96
R1704:Tmco1	UTSW	1	167325937	missense	possibly damaging	0.64
R7144:Tmco1	UTSW	1	167308453	start gained	probably benign
R7540:Tmco1	UTSW	1	167326003	missense

Posted On

2016-08-02