Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03156:Tmem237'

411282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem237

Ensembl Gene

ENSMUSG00000038079

Gene Name

transmembrane protein 237

Synonyms

Als2cr4, LOC381259

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL03156

Quality Score

Status

Chromosome

Chromosomal Location

59100590-59120408 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59109127 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 148 (D148E)

Ref Sequence

ENSEMBL: ENSMUSP00000140134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087475] [ENSMUST00000094917] [ENSMUST00000186395] [ENSMUST00000186794] [ENSMUST00000190014]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087475
AA Change: D153E

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

SMART Domains

Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: D153E

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:TMEM237	134	382	4.4e-95	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000094917
AA Change: D163E

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

SMART Domains

Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: D163E

Domain	Start	End	E-Value	Type
Pfam:TMEM237	148	391	3.4e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185951

Predicted Effect

probably damaging
Transcript: ENSMUST00000186395
AA Change: D156E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186794
AA Change: D177E

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

SMART Domains

Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: D177E

Domain	Start	End	E-Value	Type
Pfam:TMEM237	158	406	5.2e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186820

Predicted Effect

probably damaging
Transcript: ENSMUST00000190014
AA Change: D148E

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

SMART Domains

Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079
AA Change: D148E

Domain	Start	End	E-Value	Type
Pfam:TMEM237	129	230	9e-28	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,105,750	I102K	possibly damaging	Het
4930430A15Rik	T	C	2: 111,200,412	D12G	possibly damaging	Het
Abca16	T	C	7: 120,423,851	I70T	possibly damaging	Het
Acot11	A	G	4: 106,754,136	Y365H	probably damaging	Het
Bdp1	A	G	13: 100,061,036	V947A	probably benign	Het
Ccdc159	G	T	9: 21,929,475	V113L	probably benign	Het
Cep350	T	C	1: 155,858,042	D3035G	probably damaging	Het
Clca1	T	A	3: 145,013,911	I433F	probably damaging	Het
Cntn5	T	C	9: 9,673,877	Y740C	probably damaging	Het
Dennd5a	C	A	7: 109,919,255		probably benign	Het
Des	G	A	1: 75,362,996	E333K	probably damaging	Het
Dnah7a	T	C	1: 53,605,824	R1018G	probably damaging	Het
Eif2b2	G	T	12: 85,219,721	A54S	probably damaging	Het
Gm7276	C	T	18: 77,185,603		probably benign	Het
Hsbp1l1	A	G	18: 80,235,519		probably benign	Het
Iars	G	A	13: 49,703,179	G303S	possibly damaging	Het
Il18r1	A	G	1: 40,498,368	E431G	possibly damaging	Het
Lrrc14b	A	G	13: 74,363,904	V19A	probably benign	Het
Map1lc3a	T	A	2: 155,277,009	I31N	probably damaging	Het
Obscn	T	C	11: 59,054,896	Y4163C	probably damaging	Het
Olfr478	T	A	7: 108,032,351		probably benign	Het
Pcsk1	A	G	13: 75,131,951	T632A	probably benign	Het
Ppp1r15a	A	G	7: 45,525,171	L71P	possibly damaging	Het
Ptgs2	T	G	1: 150,105,477	F504V	probably damaging	Het
Rimbp2	T	G	5: 128,771,757	R908S	probably damaging	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Sap30l	T	C	11: 57,806,168		probably null	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Serpina12	T	C	12: 104,037,899	Y158C	probably damaging	Het
Trmt13	T	C	3: 116,585,802	D232G	probably benign	Het
Zan	T	A	5: 137,463,939	T993S	unknown	Het
Zfp236	G	A	18: 82,680,702	L85F	probably damaging	Het
Zfp352	G	A	4: 90,224,087	D155N	possibly damaging	Het
Zfp867	T	C	11: 59,465,008		probably benign	Het
Zmiz2	T	C	11: 6,399,536	F399L	probably damaging	Het

Other mutations in Tmem237

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Tmem237	APN	1	59107453	critical splice donor site	probably null
IGL02184:Tmem237	APN	1	59120111	splice site	probably null
R0308:Tmem237	UTSW	1	59107517	missense	probably damaging	1.00
R0659:Tmem237	UTSW	1	59114094	missense	possibly damaging	0.62
R0981:Tmem237	UTSW	1	59118005	missense	probably damaging	1.00
R2032:Tmem237	UTSW	1	59109106	missense	probably benign	0.01
R2061:Tmem237	UTSW	1	59120286	unclassified	probably benign
R2245:Tmem237	UTSW	1	59108704	missense	probably damaging	1.00
R4290:Tmem237	UTSW	1	59119836	unclassified	probably benign
R4293:Tmem237	UTSW	1	59119836	unclassified	probably benign
R4294:Tmem237	UTSW	1	59119836	unclassified	probably benign
R6793:Tmem237	UTSW	1	59114216	missense	probably benign	0.01
R7062:Tmem237	UTSW	1	59119612	splice site	probably null
R7632:Tmem237	UTSW	1	59116901	missense	probably benign	0.00
R8313:Tmem237	UTSW	1	59108078	missense	probably damaging	1.00
Z1176:Tmem237	UTSW	1	59115927	missense	probably damaging	1.00
Z1176:Tmem237	UTSW	1	59115929	missense	possibly damaging	0.77

Posted On

2016-08-02