Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02043:Tmem30a'

184865

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem30a

Ensembl Gene

ENSMUSG00000032328

Gene Name

transmembrane protein 30A

Synonyms

Cdc50a, D9Wsu20e, 2010200I23Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

79768943-79793507 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 79774089 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034878] [ENSMUST00000120690]

Predicted Effect

probably benign
Transcript: ENSMUST00000034878

SMART Domains

Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
Pfam:CDC50	69	358	1.3e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120690

SMART Domains

Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
Pfam:CDC50	50	325	3.4e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153815

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Conditional homozygous knockout in the liver leads to jaundice, increased bilirubin and bile salt levels, liver inflammation and liver fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,868		probably benign	Het
Atp1b2	T	C	11: 69,605,276	T33A	probably benign	Het
Brd2	A	T	17: 34,112,616		probably benign	Het
Carmil1	T	C	13: 24,024,316		probably benign	Het
Cdh9	A	T	15: 16,856,232	D786V	probably damaging	Het
Cep128	A	C	12: 91,266,730		probably benign	Het
Cep85	T	C	4: 134,155,727	T284A	probably benign	Het
Chrna1	C	T	2: 73,568,106	E330K	probably benign	Het
Clec2l	T	C	6: 38,676,850	Y104H	probably damaging	Het
Clybl	G	T	14: 122,379,252	K226N	probably damaging	Het
Cmip	T	A	8: 117,445,328	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340		probably null	Het
Crisp4	A	G	1: 18,134,100	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,274,150	Y261H	probably damaging	Het
Cul5	C	A	9: 53,658,673	G86V	probably benign	Het
Depdc7	T	C	2: 104,730,281	T123A	probably benign	Het
Edem2	T	C	2: 155,705,741	T384A	probably damaging	Het
F8	C	T	X: 75,332,641	M377I	probably benign	Het
Fan1	T	A	7: 64,371,619		probably null	Het
Fez2	T	C	17: 78,381,622	D366G	probably damaging	Het
Gm4841	A	C	18: 60,270,965	S19A	probably benign	Het
Gm4862	T	A	3: 139,128,635		noncoding transcript	Het
Hk3	T	A	13: 55,015,095	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,866,815	L56F	probably damaging	Het
Ldlr	A	G	9: 21,733,499	T108A	probably benign	Het
Lgr4	T	A	2: 110,011,290	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,697,525	N3906S	probably null	Het
Lrrtm4	A	G	6: 80,021,862	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,207,534	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,262,422		probably null	Het
Mvp	A	T	7: 126,993,618	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,399,965	S711P	probably benign	Het
Myom3	A	G	4: 135,770,675	K189E	probably damaging	Het
Naip1	T	A	13: 100,426,796	K620N	probably benign	Het
Nlrp10	T	C	7: 108,925,502	E257G	probably damaging	Het
Nptn	T	G	9: 58,640,729	M139R	possibly damaging	Het
Nrk	T	G	X: 138,988,795	M1105R	possibly damaging	Het
Olfr357	T	A	2: 36,997,465	Y218*	probably null	Het
Olfr519	A	T	7: 108,893,839	C189*	probably null	Het
Olfr963	T	G	9: 39,669,078	V7G	probably damaging	Het
Pcdhb16	A	G	18: 37,479,195	T403A	probably benign	Het
Pcyt1b	A	G	X: 93,702,116	E50G	possibly damaging	Het
Pigg	C	T	5: 108,344,324	T892I	probably damaging	Het
Ppig	T	G	2: 69,735,983		probably null	Het
Prr12	A	G	7: 45,050,005		probably benign	Het
Slc5a5	G	T	8: 70,892,429	A78E	possibly damaging	Het
Slc7a2	T	G	8: 40,911,058	M436R	probably benign	Het
Sp7	T	A	15: 102,359,255	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134		probably benign	Het
Svep1	A	G	4: 58,068,556	S3077P	probably benign	Het
Tmem63a	C	T	1: 180,972,788	T714I	probably benign	Het
Trank1	T	C	9: 111,363,960	L535P	probably damaging	Het
Tuba8	A	C	6: 121,220,511	N44T	probably benign	Het
Wnk1	A	G	6: 119,949,078		probably benign	Het
Zfp654	A	T	16: 64,785,028	I396K	probably benign	Het

Other mutations in Tmem30a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Tmem30a	APN	9	79775100	critical splice donor site	probably null
IGL01701:Tmem30a	APN	9	79774179	missense	probably damaging	1.00
IGL02319:Tmem30a	APN	9	79774203	missense	probably damaging	1.00
IGL02629:Tmem30a	APN	9	79776249	splice site	probably benign
IGL02983:Tmem30a	APN	9	79771443	missense	possibly damaging	0.90
Imbroglio	UTSW	9	79774265	nonsense	probably null
ladyfinger	UTSW	9	79774212	missense	probably damaging	1.00
R0085:Tmem30a	UTSW	9	79771294	missense	probably benign	0.02
R0496:Tmem30a	UTSW	9	79777285	missense	probably damaging	1.00
R0498:Tmem30a	UTSW	9	79774094	nonsense	probably null
R1546:Tmem30a	UTSW	9	79771288	makesense	probably null
R1648:Tmem30a	UTSW	9	79793029	missense	probably damaging	1.00
R2018:Tmem30a	UTSW	9	79774218	missense	probably damaging	1.00
R2019:Tmem30a	UTSW	9	79774218	missense	probably damaging	1.00
R2259:Tmem30a	UTSW	9	79774164	missense	probably benign	0.13
R2260:Tmem30a	UTSW	9	79774164	missense	probably benign	0.13
R4491:Tmem30a	UTSW	9	79777285	missense	probably damaging	1.00
R4492:Tmem30a	UTSW	9	79777285	missense	probably damaging	1.00
R5289:Tmem30a	UTSW	9	79776154	missense	probably damaging	0.99
R5433:Tmem30a	UTSW	9	79780648	missense	probably damaging	0.98
R6707:Tmem30a	UTSW	9	79774265	nonsense	probably null
R7662:Tmem30a	UTSW	9	79775231	missense	probably benign
R7732:Tmem30a	UTSW	9	79780544	missense	possibly damaging	0.49
R8100:Tmem30a	UTSW	9	79774150	missense	probably benign	0.00
R8202:Tmem30a	UTSW	9	79774212	missense	probably damaging	1.00
R8413:Tmem30a	UTSW	9	79776225	missense	probably damaging	1.00

Posted On

2014-05-07