Mutagenetix > Incidental Mutations

Incidental Mutation 'R4708:Tmem231'

355421

Institutional Source

Beutler Lab

Gene Symbol

Tmem231

Ensembl Gene

ENSMUSG00000031951

Gene Name

transmembrane protein 231

Synonyms

MMRRC Submission

042017-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4708 (G1)

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

111912011-111933881 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 111933786 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148428 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034429

SMART Domains

Protein: ENSMUSP00000034429
Gene: ENSMUSG00000031951

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211866

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,611,885	G2D	probably damaging	Het
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
4930505A04Rik	T	C	11: 30,454,717	Y62C	probably damaging	Het
4931408C20Rik	A	T	1: 26,684,440	V553D	possibly damaging	Het
Aadacl4	A	C	4: 144,623,329	K385N	probably benign	Het
Abcb4	A	T	5: 8,915,125	T332S	possibly damaging	Het
Aco2	G	A	15: 81,909,916		probably null	Het
Aplf	G	T	6: 87,663,757	S69Y	probably damaging	Het
Arhgap27	A	G	11: 103,333,562		probably benign	Het
B4galnt1	T	A	10: 127,169,815	Y262N	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
BC017158	A	G	7: 128,274,680	V345A	probably benign	Het
Ccdc62	T	G	5: 123,930,862		probably null	Het
Cd109	T	A	9: 78,672,589	I649K	probably benign	Het
Cd209b	T	C	8: 3,924,215	E99G	probably damaging	Het
Cep290	A	G	10: 100,523,264	K952R	probably benign	Het
Ces2a	A	G	8: 104,737,306	H190R	probably benign	Het
Clec14a	A	G	12: 58,267,703	S378P	probably benign	Het
Col27a1	A	G	4: 63,283,913	Q947R	probably benign	Het
Dennd3	A	G	15: 73,523,495	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970	M486L	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,220,323	H125Q	probably damaging	Het
Fam35a	A	G	14: 34,267,833	V372A	probably benign	Het
Fcgbp	A	T	7: 28,094,961	M1197L	probably benign	Het
Fubp3	C	T	2: 31,608,110	T92I	probably benign	Het
Gm19426	T	C	2: 84,743,459		probably null	Het
Gtf2ird2	A	G	5: 134,216,298	H466R	probably damaging	Het
Hdac5	T	C	11: 102,202,193	S573G	probably damaging	Het
Iars2	A	T	1: 185,289,357	M916K	probably benign	Het
Insr	A	T	8: 3,211,346		probably benign	Het
Itgam	T	C	7: 128,101,537	V493A	probably damaging	Het
Ivl	T	A	3: 92,571,750	K336I	probably damaging	Het
Kcng2	A	G	18: 80,322,852	I95T	probably damaging	Het
Lap3	A	G	5: 45,511,138	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,629,662	H115R	probably benign	Het
Morc3	T	C	16: 93,873,238	V767A	probably benign	Het
Mttp	A	G	3: 138,134,098		probably benign	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Nat9	G	A	11: 115,183,443	T133M	probably damaging	Het
Nectin4	T	C	1: 171,385,146	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,464,108	E900G	probably benign	Het
Nlrp9c	A	T	7: 26,384,840	M438K	probably benign	Het
Olfr1384	T	A	11: 49,514,389	Y250*	probably null	Het
Olfr1444	A	T	19: 12,861,897	I41F	probably benign	Het
Olfr551	A	T	7: 102,587,836	D302E	probably benign	Het
Parp6	T	C	9: 59,641,769	I507T	probably damaging	Het
Pde6c	G	A	19: 38,180,893	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,291,014	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,428,067	W216R	probably damaging	Het
Rhof	T	A	5: 123,120,391	T126S	probably benign	Het
Riox2	A	G	16: 59,475,682	I49V	probably benign	Het
Tmc6	A	T	11: 117,768,948	C750S	probably benign	Het
Tmem94	T	A	11: 115,786,295	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,521,039		probably null	Het
Tnfrsf21	C	T	17: 43,038,232	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,739,861	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,694,314	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,541,343	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,601,202	H177L	probably benign	Het
Vnn1	T	A	10: 23,897,352	D92E	probably benign	Het
Zan	T	C	5: 137,446,712	I1762V	unknown	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,245,503		probably null	Het
Zfp560	T	C	9: 20,351,918	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,590,232	H415Y	probably damaging	Het
Zmynd11	A	C	13: 9,695,753	V188G	probably damaging	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
R3616:Tmem231	UTSW	8	111918313	missense	possibly damaging	0.63
R4541:Tmem231	UTSW	8	111914592	missense	probably benign	0.02
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	synonymous	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

Predicted Primers

Posted On

2015-10-21