Mutagenetix > Incidental Mutation

Incidental Mutation 'R6651:Tmem234'

527776

Institutional Source

Beutler Lab

Gene Symbol

Tmem234

Ensembl Gene

ENSMUSG00000028797

Gene Name

transmembrane protein 234

Synonyms

1500002D11Rik, 2510006D16Rik, 4933407D05Rik

MMRRC Submission

044772-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R6651 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129494449-129502326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129501264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 113 (M113K)

Ref Sequence

ENSEMBL: ENSMUSP00000137989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102591] [ENSMUST00000106037] [ENSMUST00000129515] [ENSMUST00000135628] [ENSMUST00000137090] [ENSMUST00000173758] [ENSMUST00000181579] [ENSMUST00000174073] [ENSMUST00000151969] [ENSMUST00000152126] [ENSMUST00000172774] [ENSMUST00000173937] [ENSMUST00000174819] [ENSMUST00000179209] [ENSMUST00000150110]

AlphaFold

Q8R1E7

Predicted Effect

probably benign
Transcript: ENSMUST00000102591
AA Change: M115K

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099651
Gene: ENSMUSG00000028797
AA Change: M115K

Domain	Start	End	E-Value	Type
Pfam:TMEM234	11	126	2.1e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106037

SMART Domains

Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552

Domain	Start	End	E-Value	Type
DCX	1	85	7.69e-26	SMART
DCX	118	205	6.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129515

SMART Domains

Protein: ENSMUSP00000117184
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135628

SMART Domains

Protein: ENSMUSP00000120682
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137090

SMART Domains

Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143374

Predicted Effect

probably benign
Transcript: ENSMUST00000145345

SMART Domains

Protein: ENSMUSP00000122893
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:TMEM234	6	56	2.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173758
AA Change: M106K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134588
Gene: ENSMUSG00000028797
AA Change: M106K

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	117	3.2e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181579
AA Change: M113K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137989
Gene: ENSMUSG00000028797
AA Change: M113K

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	124	4.4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174073

SMART Domains

Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151969

SMART Domains

Protein: ENSMUSP00000120878
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152126

SMART Domains

Protein: ENSMUSP00000120224
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172774

SMART Domains

Protein: ENSMUSP00000133502
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173937

SMART Domains

Protein: ENSMUSP00000133412
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174819

SMART Domains

Protein: ENSMUSP00000133695
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	57	1.5e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174350

Predicted Effect

probably benign
Transcript: ENSMUST00000179209

SMART Domains

Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552

Domain	Start	End	E-Value	Type
DCX	1	86	1.32e-24	SMART
DCX	91	178	1.1e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173507

Predicted Effect

probably benign
Transcript: ENSMUST00000150110

SMART Domains

Protein: ENSMUSP00000122513
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	58	1.6e-12	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

98% (50/51)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibited an increased median serum IgG2a response to ovalbumin challenge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,496 (GRCm39)	S198A	possibly damaging	Het
Adamts15	A	T	9: 30,833,448 (GRCm39)	I29N	probably damaging	Het
Ankrd61	A	T	5: 143,830,438 (GRCm39)	I33N	probably damaging	Het
Arl6ip1	C	T	7: 117,728,708 (GRCm39)	R7H	probably benign	Het
Atp8a2	A	T	14: 60,011,470 (GRCm39)	D946E	probably benign	Het
Cc2d2b	A	T	19: 40,766,573 (GRCm39)	Q114L	probably damaging	Het
Ccdc163	T	A	4: 116,566,261 (GRCm39)	S16R	possibly damaging	Het
Chil6	C	T	3: 106,311,576 (GRCm39)	C68Y	probably damaging	Het
Cngb3	G	T	4: 19,375,231 (GRCm39)	R287L	probably benign	Het
Crem	C	T	18: 3,325,428 (GRCm39)	R16H	probably benign	Het
Cyp4f16	C	T	17: 32,763,118 (GRCm39)	R188C	probably benign	Het
Dap	A	G	15: 31,273,353 (GRCm39)	D46G	probably damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Enam	T	C	5: 88,650,776 (GRCm39)	Y687H	probably damaging	Het
Fzd4	A	T	7: 89,054,010 (GRCm39)	D39V	possibly damaging	Het
Ggta1	G	T	2: 35,292,306 (GRCm39)	H334N	probably benign	Het
Golga3	C	T	5: 110,365,996 (GRCm39)	R1254*	probably null	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,881,350 (GRCm39)	W377*	probably null	Het
Hfm1	T	C	5: 106,995,553 (GRCm39)	D1286G	probably benign	Het
Hhatl	T	C	9: 121,613,768 (GRCm39)	R425G	probably damaging	Het
Hivep3	G	A	4: 119,980,146 (GRCm39)	R1728H	probably damaging	Het
Hyal1	A	G	9: 107,456,570 (GRCm39)	Y419C	probably damaging	Het
Ighv8-12	A	T	12: 115,611,644 (GRCm39)	D84E	possibly damaging	Het
Itln1	A	G	1: 171,345,940 (GRCm39)	F271L	possibly damaging	Het
Klra7	C	A	6: 130,206,908 (GRCm39)	L64F	probably benign	Het
Kmt2a	A	T	9: 44,740,108 (GRCm39)	C1878*	probably null	Het
Mia2	C	A	12: 59,201,148 (GRCm39)	Q825K	possibly damaging	Het
Mmp12	C	A	9: 7,355,345 (GRCm39)	P294Q	possibly damaging	Het
Nedd4	A	G	9: 72,638,553 (GRCm39)	N480S	possibly damaging	Het
Or4c12b	A	T	2: 89,647,240 (GRCm39)	E190V	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Pax6	T	A	2: 105,516,175 (GRCm39)	M151K	probably benign	Het
Pgm2	A	G	5: 64,269,437 (GRCm39)	Y508C	probably benign	Het
Ptpn20	T	C	14: 33,354,897 (GRCm39)	F324S	probably damaging	Het
Recql	A	G	6: 142,310,160 (GRCm39)		probably null	Het
Rerg	A	G	6: 137,033,384 (GRCm39)	V97A	probably damaging	Het
Rffl	C	A	11: 82,703,605 (GRCm39)	C106F	probably damaging	Het
Scaper	T	G	9: 55,765,788 (GRCm39)	N499T	probably benign	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Slc36a4	A	G	9: 15,634,874 (GRCm39)	S139G	probably benign	Het
Slco2b1	T	A	7: 99,316,376 (GRCm39)	M385L	probably benign	Het
Smg8	T	C	11: 86,977,372 (GRCm39)	T70A	probably benign	Het
Spats2l	A	T	1: 57,985,336 (GRCm39)	K463M	probably damaging	Het
Thbs4	T	C	13: 92,893,044 (GRCm39)	I715V	probably benign	Het
Vmn2r10	T	C	5: 109,143,488 (GRCm39)	I821V	probably null	Het
Vmn2r116	A	T	17: 23,607,805 (GRCm39)	K458*	probably null	Het
Vmn2r76	T	A	7: 85,878,059 (GRCm39)	N446I	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,622 (GRCm39)	Y345N	probably damaging	Het

Other mutations in Tmem234

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02640:Tmem234	APN	4	129,494,896 (GRCm39)	missense	probably damaging	0.98
R5108:Tmem234	UTSW	4	129,495,730 (GRCm39)	intron	probably benign
R5367:Tmem234	UTSW	4	129,494,500 (GRCm39)	start gained	probably benign
R5800:Tmem234	UTSW	4	129,500,924 (GRCm39)	splice site	probably null
R8286:Tmem234	UTSW	4	129,500,881 (GRCm39)	unclassified	probably benign
R8734:Tmem234	UTSW	4	129,501,317 (GRCm39)	missense	probably benign	0.00
R9190:Tmem234	UTSW	4	129,501,333 (GRCm39)	missense	probably benign	0.00
R9370:Tmem234	UTSW	4	129,500,922 (GRCm39)	missense	probably damaging	0.99
R9411:Tmem234	UTSW	4	129,495,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCTGACTCCCATGGGTG -3'
(R):5'- TGGCCCCTGAGATAGACATG -3'

Sequencing Primer
(F):5'- ACTCCCATGGGTGGTGAG -3'
(R):5'- GCCCCTGAGATAGACATGATCTG -3'

Posted On

2018-07-23