Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Tmem231'

268403

Institutional Source

Beutler Lab

Gene Symbol

Tmem231

Ensembl Gene

ENSMUSG00000031951

Gene Name

transmembrane protein 231

Synonyms

MMRRC Submission

040673-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111912011-111933881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111918313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 187 (R187H)

Ref Sequence

ENSEMBL: ENSMUSP00000034429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034429] [ENSMUST00000211866]

AlphaFold

Q3U284

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034429
AA Change: R187H

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034429
Gene: ENSMUSG00000031951
AA Change: R187H

Domain	Start	End	E-Value	Type
Pfam:TM231	1	301	5.8e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211866

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	Het

Other mutations in Tmem231

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Tmem231	APN	8	111918440	splice site	probably benign
IGL02800:Tmem231	APN	8	111914032	missense	probably benign	0.03
R2281:Tmem231	UTSW	8	111918931	missense	probably damaging	1.00
R2306:Tmem231	UTSW	8	111918871	missense	probably damaging	1.00
R3615:Tmem231	UTSW	8	111918313	missense	possibly damaging	0.63
R4541:Tmem231	UTSW	8	111914592	missense	probably benign	0.02
R4708:Tmem231	UTSW	8	111933786	start gained	probably benign
R5522:Tmem231	UTSW	8	111918410	missense	possibly damaging	0.92
R6266:Tmem231	UTSW	8	111915265	missense	probably null	0.71
R6414:Tmem231	UTSW	8	111926892	intron	probably benign
R6415:Tmem231	UTSW	8	111926892	intron	probably benign
R6418:Tmem231	UTSW	8	111926892	intron	probably benign
R6419:Tmem231	UTSW	8	111926892	intron	probably benign
R6622:Tmem231	UTSW	8	111918931	missense	probably damaging	1.00
R6938:Tmem231	UTSW	8	111933512	missense	probably damaging	0.97
R7103:Tmem231	UTSW	8	111918885	splice site	probably null
R7221:Tmem231	UTSW	8	111933676	missense	probably benign
R7305:Tmem231	UTSW	8	111915295	missense	possibly damaging	0.70
R7438:Tmem231	UTSW	8	111918408	missense	probably damaging	1.00
R7781:Tmem231	UTSW	8	111918290	critical splice donor site	probably null
R8951:Tmem231	UTSW	8	111914065	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACATTTATGGTGCCCAACATC -3'
(R):5'- GTGGGCTAACACACTCATGC -3'

Sequencing Primer
(F):5'- TATGGTGCCCAACATCCATTCAG -3'
(R):5'- CATCTTCAGCTGCTGACAAGTGAG -3'

Posted On

2015-02-19