Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Tmem231'

568418

Institutional Source

Beutler Lab

Gene Symbol

Tmem231

Ensembl Gene

ENSMUSG00000031951

Gene Name

transmembrane protein 231

Synonyms

4932417I16Rik

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112638639-112660445 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 112645517 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 null
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
AA Change: N154S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 26,997,473 (GRCm39)	V893I	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Aoah	T	C	13: 21,207,485 (GRCm39)	F568S	probably damaging	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Brd3	T	A	2: 27,340,406 (GRCm39)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dmp1	A	T	5: 104,359,729 (GRCm39)	D135V	probably damaging	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4c120	A	G	2: 89,000,827 (GRCm39)	I243T	possibly damaging	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,829,488 (GRCm39)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Trpm6	A	T	19: 18,790,911 (GRCm39)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	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
R6414:Tmem231	UTSW	8	112,653,524 (GRCm39)	intron	probably benign
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
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'- AAGAGCCATCTGCAGTGTG -3'
(R):5'- CTTGAACTCAGATCTGCTTGTC -3'

Sequencing Primer
(F):5'- CTCAGAGGTTAAGAGCACTGACTG -3'
(R):5'- GAACTCAGATCTGCTTGTCTCTGC -3'

Posted On

2019-07-17