Mutagenetix > Incidental Mutation

Incidental Mutation 'R6414:Tmem231'

543426

Institutional Source

Beutler Lab

Gene Symbol

Tmem231

Ensembl Gene

ENSMUSG00000031951

Gene Name

transmembrane protein 231

Synonyms

4932417I16Rik

MMRRC Submission

044556-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112638639-112660445 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 112653524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034429 (fasta)

Gene Model

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

AlphaFold

Q3U284

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

unknown
Transcript: ENSMUST00000211866
AA Change: H115Y

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Alpk1	T	C	3: 127,473,858 (GRCm39)	D715G	probably benign	Het
Atg101	T	A	15: 101,188,341 (GRCm39)	C149S	probably benign	Het
Atp2c1	A	T	9: 105,343,855 (GRCm39)	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,710,056 (GRCm39)	A360E	probably damaging	Het
Chd3	A	T	11: 69,243,371 (GRCm39)		probably null	Het
Clcc1	G	A	3: 108,584,167 (GRCm39)	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,769,465 (GRCm39)		probably null	Het
Ctnna3	T	C	10: 64,096,644 (GRCm39)	V394A	probably benign	Het
Ctsll3	A	G	13: 60,948,113 (GRCm39)	F188S	probably damaging	Het
Cyth4	T	C	15: 78,492,346 (GRCm39)	V125A	probably damaging	Het
Ddx43	G	A	9: 78,308,218 (GRCm39)	V131I	probably benign	Het
Elp4	A	G	2: 105,734,788 (GRCm39)	S16P	possibly damaging	Het
Espl1	T	A	15: 102,223,995 (GRCm39)	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,223,935 (GRCm39)	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,748,014 (GRCm39)	V350D	probably damaging	Het
Frem1	A	G	4: 82,858,773 (GRCm39)	F1545S	probably damaging	Het
Gata3	T	A	2: 9,863,245 (GRCm39)	H423L	possibly damaging	Het
Golt1a	A	T	1: 133,248,032 (GRCm39)	M87L	probably damaging	Het
Gpr171	A	T	3: 59,005,544 (GRCm39)	V77E	probably damaging	Het
Hectd2	A	G	19: 36,596,186 (GRCm39)	D757G	probably benign	Het
Hmmr	A	G	11: 40,606,694 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,660,441 (GRCm39)	V635A	possibly damaging	Het
Lama1	T	C	17: 68,053,905 (GRCm39)		probably null	Het
Ltbp4	G	A	7: 27,010,140 (GRCm39)	P1140L	probably damaging	Het
Macf1	A	G	4: 123,386,988 (GRCm39)	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,158,830 (GRCm39)	M1L	probably benign	Het
Mex3d	A	G	10: 80,217,205 (GRCm39)	S671P	unknown	Het
Mrgprb2	C	T	7: 48,202,129 (GRCm39)	V199I	probably benign	Het
Mroh9	A	T	1: 162,902,271 (GRCm39)	V114E	probably damaging	Het
Muc5b	A	G	7: 141,412,834 (GRCm39)	K1927E	unknown	Het
Or4f52	A	C	2: 111,061,497 (GRCm39)		probably null	Het
Or6c35	T	A	10: 129,169,578 (GRCm39)	I276K	probably benign	Het
Otogl	C	T	10: 107,617,911 (GRCm39)	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,021,258 (GRCm39)	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,546,898 (GRCm39)	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 99,904,747 (GRCm39)	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,305,178 (GRCm39)		probably benign	Het
Rap1gap2	A	G	11: 74,296,616 (GRCm39)	L457P	probably damaging	Het
Rasef	C	T	4: 73,658,818 (GRCm39)	V463M	probably benign	Het
Rb1	T	C	14: 73,520,414 (GRCm39)	S42G	unknown	Het
Reep3	C	A	10: 66,875,356 (GRCm39)	V36F	probably damaging	Het
Rhcg	A	G	7: 79,248,716 (GRCm39)		probably null	Het
Sbno1	T	C	5: 124,533,994 (GRCm39)	S661G	probably benign	Het
Slc25a3	T	G	10: 90,958,190 (GRCm39)	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,228,008 (GRCm39)	I395F	probably benign	Het
Slc6a5	C	T	7: 49,559,991 (GRCm39)		probably benign	Het
Snta1	G	C	2: 154,219,987 (GRCm39)	T391S	possibly damaging	Het
Spata7	T	C	12: 98,629,479 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,158,809 (GRCm39)		probably null	Het
Terf2	A	T	8: 107,803,486 (GRCm39)	S365T	probably benign	Het
Trim8	A	T	19: 46,491,346 (GRCm39)	H155L	probably benign	Het
Wipi2	T	A	5: 142,641,693 (GRCm39)	V83D	probably damaging	Het
Zbtb47	T	G	9: 121,592,725 (GRCm39)	D348E	probably benign	Het
Zfp316	C	A	5: 143,240,639 (GRCm39)	R460L	possibly damaging	Het
Zfp799	C	T	17: 33,039,259 (GRCm39)	V336M	probably damaging	Het
Zfp947	A	T	17: 22,365,395 (GRCm39)	I93N	probably damaging	Het
Zranb3	A	G	1: 127,968,694 (GRCm39)	Y74H	probably benign	Het

Other mutations in Tmem231

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Tmem231	APN	8	112,645,072 (GRCm39)	splice site	probably benign
IGL02800:Tmem231	APN	8	112,640,664 (GRCm39)	missense	probably benign	0.03
R2281:Tmem231	UTSW	8	112,645,563 (GRCm39)	missense	probably damaging	1.00
R2306:Tmem231	UTSW	8	112,645,503 (GRCm39)	missense	probably damaging	1.00
R3615:Tmem231	UTSW	8	112,644,945 (GRCm39)	missense	possibly damaging	0.63
R3616:Tmem231	UTSW	8	112,644,945 (GRCm39)	missense	possibly damaging	0.63
R4541:Tmem231	UTSW	8	112,641,224 (GRCm39)	missense	probably benign	0.02
R4708:Tmem231	UTSW	8	112,660,418 (GRCm39)	start gained	probably benign
R5522:Tmem231	UTSW	8	112,645,042 (GRCm39)	missense	possibly damaging	0.92
R6266:Tmem231	UTSW	8	112,641,897 (GRCm39)	missense	probably null	0.71
R6415:Tmem231	UTSW	8	112,653,524 (GRCm39)	intron	probably benign
R6418:Tmem231	UTSW	8	112,653,524 (GRCm39)	intron	probably benign
R6419:Tmem231	UTSW	8	112,653,524 (GRCm39)	intron	probably benign
R6622:Tmem231	UTSW	8	112,645,563 (GRCm39)	missense	probably damaging	1.00
R6938:Tmem231	UTSW	8	112,660,144 (GRCm39)	missense	probably damaging	0.97
R7103:Tmem231	UTSW	8	112,645,517 (GRCm39)	splice site	probably null
R7221:Tmem231	UTSW	8	112,660,308 (GRCm39)	missense	probably benign
R7305:Tmem231	UTSW	8	112,641,927 (GRCm39)	missense	possibly damaging	0.70
R7438:Tmem231	UTSW	8	112,645,040 (GRCm39)	missense	probably damaging	1.00
R7781:Tmem231	UTSW	8	112,644,922 (GRCm39)	critical splice donor site	probably null
R8951:Tmem231	UTSW	8	112,640,697 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTCCCAGACATGGTGAAGC -3'
(R):5'- ACAGTATTTGGCCTGTGACAAAC -3'

Sequencing Primer
(F):5'- CCAGGCTGGGTCTATATATTCAGAGC -3'
(R):5'- GTGACAAACAGCAAATATTAGCTAC -3'

Posted On

2018-12-07