Mutagenetix > Incidental Mutation

Incidental Mutation 'R8951:Tmem231'

681650

Institutional Source

Beutler Lab

Gene Symbol

Tmem231

Ensembl Gene

ENSMUSG00000031951

Gene Name

transmembrane protein 231

Synonyms

4932417I16Rik

MMRRC Submission

068788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8951 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112638639-112660445 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112640697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 272 (Q272R)

Ref Sequence

ENSEMBL: ENSMUSP00000034429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034429] [ENSMUST00000034430] [ENSMUST00000211866]

AlphaFold

Q3U284

Predicted Effect

probably damaging
Transcript: ENSMUST00000034429
AA Change: Q272R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034429
Gene: ENSMUSG00000031951
AA Change: Q272R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034430

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Sulfotransfer_1	40	357	1.2e-25	PFAM
Pfam:Sulfotransfer_3	41	294	4.7e-16	PFAM
low complexity region	363	376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211866

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	T	C	11: 102,665,193 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,502,140 (GRCm39)	V158E	possibly damaging	Het
Adgrg3	T	C	8: 95,761,362 (GRCm39)		probably benign	Het
Arsb	T	C	13: 93,944,124 (GRCm39)	S272P	probably damaging	Het
Asb10	A	C	5: 24,742,952 (GRCm39)	C260W	probably damaging	Het
Atp13a1	A	G	8: 70,246,484 (GRCm39)	D158G	probably benign	Het
Bcl6	T	C	16: 23,793,704 (GRCm39)	E81G	probably damaging	Het
C7	A	T	15: 5,032,231 (GRCm39)	V660E	probably benign	Het
Cacna1c	T	C	6: 118,590,300 (GRCm39)	D1401G	probably damaging	Het
Ccp110	A	G	7: 118,321,015 (GRCm39)	I223M	possibly damaging	Het
Cilp	A	G	9: 65,180,220 (GRCm39)	E187G	probably benign	Het
Cmc2	T	C	8: 117,637,904 (GRCm39)	N15S	probably damaging	Het
Cnnm3	T	A	1: 36,558,019 (GRCm39)		probably benign	Het
Col27a1	T	G	4: 63,191,311 (GRCm39)	M828R	possibly damaging	Het
Cpm	C	T	10: 117,511,938 (GRCm39)	P294L	probably damaging	Het
Cpt1a	G	C	19: 3,412,211 (GRCm39)	A228P	probably benign	Het
Ctbp1	A	G	5: 33,416,679 (GRCm39)	V43A	probably damaging	Het
Cylc2	A	T	4: 51,229,469 (GRCm39)	E270D	unknown	Het
Cyp46a1	A	C	12: 108,312,348 (GRCm39)	R119S	possibly damaging	Het
Dctn3	A	T	4: 41,719,845 (GRCm39)	I87N	probably damaging	Het
Dhdds	C	T	4: 133,719,857 (GRCm39)	V25I	possibly damaging	Het
Entpd1	A	C	19: 40,727,319 (GRCm39)	N489T	probably damaging	Het
Fam110a	T	C	2: 151,812,461 (GRCm39)	D103G	probably damaging	Het
Foxo6	T	A	4: 120,125,133 (GRCm39)	Q554L	unknown	Het
Gbp5	T	A	3: 142,206,481 (GRCm39)	M55K	probably damaging	Het
Gm20730	T	C	6: 43,058,638 (GRCm39)	Y58C	possibly damaging	Het
Grip1	T	A	10: 119,874,509 (GRCm39)	S679T	possibly damaging	Het
Gtdc1	A	C	2: 44,679,030 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	A	12: 113,222,684 (GRCm39)	N246Y		Het
Ighg2b	T	A	12: 113,270,926 (GRCm39)	T104S	probably benign	Het
Ighmbp2	C	T	19: 3,318,726 (GRCm39)	W450*	probably null	Het
Ipo11	T	C	13: 106,978,690 (GRCm39)	E839G	possibly damaging	Het
Iqce	T	C	5: 140,675,578 (GRCm39)	D207G	probably damaging	Het
Irgm2	T	C	11: 58,110,408 (GRCm39)	V45A	possibly damaging	Het
Itga1	C	T	13: 115,107,027 (GRCm39)	W1021*	probably null	Het
Itga3	T	C	11: 94,944,911 (GRCm39)	Y799C	probably damaging	Het
Klf1	T	C	8: 85,629,912 (GRCm39)	S246P	possibly damaging	Het
Kras	A	T	6: 145,166,338 (GRCm39)	M188K	probably benign	Het
Lacc1	C	T	14: 77,272,613 (GRCm39)	C61Y	probably benign	Het
Lect2	T	A	13: 56,690,822 (GRCm39)		probably benign	Het
Leng9	G	A	7: 4,152,782 (GRCm39)		probably benign	Het
Lhx9	A	G	1: 138,769,704 (GRCm39)	C6R	probably damaging	Het
Matn3	T	A	12: 9,002,172 (GRCm39)	I128K	probably damaging	Het
Ndst1	T	C	18: 60,830,196 (GRCm39)	E638G	probably benign	Het
Nell2	A	T	15: 95,139,424 (GRCm39)	C603S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oas1h	T	G	5: 121,000,657 (GRCm39)	F89C	probably damaging	Het
Or4d10c	A	T	19: 12,066,056 (GRCm39)	Y33*	probably null	Het
Or52l1	A	G	7: 104,829,638 (GRCm39)	V294A	probably damaging	Het
Or5b101	T	A	19: 13,004,827 (GRCm39)	S289C		Het
Or5d45	C	T	2: 88,153,975 (GRCm39)	G25S	probably damaging	Het
P2ry2	G	A	7: 100,647,228 (GRCm39)	T359I	probably damaging	Het
Pbxip1	T	A	3: 89,352,864 (GRCm39)	V170E	probably benign	Het
Pcdhb20	T	A	18: 37,639,146 (GRCm39)	N557K	probably damaging	Het
Pdilt	A	G	7: 119,099,611 (GRCm39)	V219A	possibly damaging	Het
Plec	G	T	15: 76,067,310 (GRCm39)	S1149*	probably null	Het
Pnkp	C	T	7: 44,507,617 (GRCm39)	T61I	possibly damaging	Het
Polr1f	G	T	12: 33,487,867 (GRCm39)	E261*	probably null	Het
Prss56	T	A	1: 87,115,749 (GRCm39)	V541D	probably damaging	Het
Rab40c	A	G	17: 26,138,407 (GRCm39)	V25A	probably damaging	Het
Rgs8	A	T	1: 153,546,567 (GRCm39)	H22L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Slc1a2	T	C	2: 102,586,353 (GRCm39)	V319A	probably damaging	Het
Sp140l2	G	A	1: 85,224,671 (GRCm39)	S288L	possibly damaging	Het
Spata18	A	T	5: 73,828,572 (GRCm39)	I378F	probably damaging	Het
Speer1i	T	A	5: 11,092,799 (GRCm39)	Y79*	probably null	Het
Stag1	T	C	9: 100,762,854 (GRCm39)	V485A	probably damaging	Het
Tas2r104	T	A	6: 131,662,569 (GRCm39)	I47F	probably damaging	Het
Thumpd1	A	T	7: 119,317,471 (GRCm39)	H143Q	possibly damaging	Het
Tnfaip2	A	G	12: 111,412,310 (GRCm39)	D237G	probably benign	Het
Tox3	T	C	8: 91,074,543 (GRCm39)	D12G	probably benign	Het
Vmn1r1	A	G	1: 181,985,309 (GRCm39)	S119P	probably damaging	Het
Xrn1	A	G	9: 95,870,999 (GRCm39)	E608G	probably benign	Het
Zfp395	T	C	14: 65,629,528 (GRCm39)	C281R	probably 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
R7781:Tmem231	UTSW	8	112,644,922 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATGCAGGCCTGAAAGTGTC -3'
(R):5'- CTGGTCATCCATTTTATCTGAAGAG -3'

Sequencing Primer
(F):5'- AAATGTTGTAAGATGGCAGGTCTC -3'
(R):5'- TTACGTGTAGCTGTTGCC -3'

Posted On

2021-08-31