Mutagenetix > Incidental Mutation

Incidental Mutation 'R7781:Tmem231'

599245

Institutional Source

Beutler Lab

Gene Symbol

Tmem231

Ensembl Gene

ENSMUSG00000031951

Gene Name

transmembrane protein 231

Synonyms

4932417I16Rik

MMRRC Submission

045837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112638639-112660445 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 112644922 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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
1700064H15Rik	G	A	3: 19,682,706 (GRCm39)	P23S	unknown	Het
Abcc6	C	T	7: 45,655,030 (GRCm39)	R487Q	probably damaging	Het
Abl1	A	T	2: 31,680,709 (GRCm39)	T334S	probably damaging	Het
Adam6b	T	C	12: 113,454,962 (GRCm39)	F593S	probably damaging	Het
Alx1	A	T	10: 102,845,053 (GRCm39)	M326K	probably damaging	Het
Ankhd1	A	T	18: 36,758,258 (GRCm39)	D984V	probably damaging	Het
Asb15	A	G	6: 24,562,644 (GRCm39)	N202S	probably benign	Het
Ate1	A	T	7: 130,121,157 (GRCm39)	V12E	probably damaging	Het
Atl2	A	T	17: 80,167,260 (GRCm39)	Y254N	probably damaging	Het
Atp13a5	A	G	16: 29,116,226 (GRCm39)	M630T	probably benign	Het
Atp5po	A	T	16: 91,723,417 (GRCm39)	I124N	possibly damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bicdl1	T	C	5: 115,799,546 (GRCm39)	E181G	probably damaging	Het
Bnipl	C	A	3: 95,151,486 (GRCm39)	W272L	probably damaging	Het
Catsperd	A	T	17: 56,971,072 (GRCm39)	H712L	probably benign	Het
Cilp2	T	C	8: 70,334,997 (GRCm39)	D667G	possibly damaging	Het
Cntn4	A	C	6: 106,500,575 (GRCm39)	K351Q	probably damaging	Het
Coq7	A	T	7: 118,125,111 (GRCm39)	I171N	probably damaging	Het
Csf2rb	T	A	15: 78,228,771 (GRCm39)	F371I	probably benign	Het
Cyp3a13	C	T	5: 137,897,136 (GRCm39)	V393M	possibly damaging	Het
Dennd2a	A	G	6: 39,470,000 (GRCm39)	V564A	probably damaging	Het
Ear14	T	C	14: 51,441,468 (GRCm39)	L108P	probably damaging	Het
Egflam	C	A	15: 7,283,227 (GRCm39)	V277F	probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Faap100	T	C	11: 120,265,089 (GRCm39)	M596V	probably benign	Het
Fbxw15	T	A	9: 109,386,330 (GRCm39)	T270S	possibly damaging	Het
Gabpb1	C	T	2: 126,481,120 (GRCm39)	C342Y	possibly damaging	Het
Gls	A	T	1: 52,251,492 (GRCm39)	C288*	probably null	Het
Grm8	G	T	6: 27,285,786 (GRCm39)	D875E	probably benign	Het
Hdac4	C	A	1: 91,903,387 (GRCm39)	R514L	probably benign	Het
Hps4	T	A	5: 112,518,388 (GRCm39)	N460K	probably benign	Het
Inpp5d	T	C	1: 87,627,394 (GRCm39)	F565S	probably damaging	Het
Kcnh5	C	A	12: 75,023,455 (GRCm39)	V538F	probably damaging	Het
Kcp	T	C	6: 29,497,764 (GRCm39)	N499S	probably damaging	Het
Klk15	T	C	7: 43,588,980 (GRCm39)	L244S	probably benign	Het
Lamp3	A	T	16: 19,518,440 (GRCm39)	S266T	possibly damaging	Het
Lemd3	A	G	10: 120,761,678 (GRCm39)	F863L	probably damaging	Het
Mga	T	A	2: 119,747,838 (GRCm39)	V663D	probably damaging	Het
Naa15	A	G	3: 51,378,904 (GRCm39)		probably null	Het
Ndrg3	C	A	2: 156,770,733 (GRCm39)	G352*	probably null	Het
Nr2f6	G	T	8: 71,828,595 (GRCm39)	N233K	possibly damaging	Het
Or4a79	A	G	2: 89,551,879 (GRCm39)	F192S	probably benign	Het
Plxnb2	T	A	15: 89,041,225 (GRCm39)	M1774L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl23a	G	A	11: 78,073,654 (GRCm39)	R62W	probably benign	Het
Rubcnl	A	G	14: 75,269,530 (GRCm39)	R63G	probably damaging	Het
Ryr1	T	C	7: 28,767,055 (GRCm39)	D2976G	probably damaging	Het
Siglec1	A	G	2: 130,923,258 (GRCm39)	Y496H	probably damaging	Het
Sipa1l2	A	G	8: 126,218,566 (GRCm39)	V257A	possibly damaging	Het
Slc24a4	T	C	12: 102,201,112 (GRCm39)		probably null	Het
Slc4a1ap	T	C	5: 31,684,822 (GRCm39)	S153P	probably damaging	Het
Slc4a4	A	T	5: 89,376,791 (GRCm39)	E1006V	possibly damaging	Het
Svep1	T	G	4: 58,069,251 (GRCm39)	E2845A	possibly damaging	Het
Tlr1	T	C	5: 65,084,079 (GRCm39)	N166S	possibly damaging	Het
Tsc2	C	A	17: 24,827,089 (GRCm39)	L873F	possibly damaging	Het
Unc13b	T	G	4: 43,259,546 (GRCm39)	S1403A	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,553 (GRCm39)	F236L	probably benign	Het
Vmn2r111	T	C	17: 22,789,714 (GRCm39)	S431G	probably benign	Het
Wdr7	A	T	18: 63,910,860 (GRCm39)	K751*	probably null	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zcchc2	T	C	1: 105,931,895 (GRCm39)	Y366H	probably damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp607a	C	T	7: 27,565,000 (GRCm39)	R56C	possibly damaging	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
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
R8951:Tmem231	UTSW	8	112,640,697 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTAAGGACGTGGGCTTG -3'
(R):5'- TCAGCTGCTGACAAGTGAGTTG -3'

Sequencing Primer
(F):5'- GGGTCCAGCACTGCACATTTATG -3'
(R):5'- GGCTCTTCAGACCTGACAATG -3'

Posted On

2019-11-26