Mutagenetix > Incidental Mutation

Incidental Mutation 'R8286:Tmem234'

656345

Institutional Source

Beutler Lab

Gene Symbol

Tmem234

Ensembl Gene

ENSMUSG00000028797

Gene Name

transmembrane protein 234

Synonyms

1500002D11Rik, 2510006D16Rik, 4933407D05Rik

MMRRC Submission

067708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R8286 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129494449-129502326 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 129500881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135913 (fasta)

Gene Model

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

AlphaFold

Q8R1E7

Predicted Effect

silent
Transcript: ENSMUST00000102591

SMART Domains

Protein: ENSMUSP00000099651
Gene: ENSMUSG00000028797

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

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: ENSMUST00000150110

SMART Domains

Protein: ENSMUSP00000122513
Gene: ENSMUSG00000028797

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

silent
Transcript: ENSMUST00000173758

SMART Domains

Protein: ENSMUSP00000134588
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	117	3.2e-32	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: ENSMUST00000174073

SMART Domains

Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797

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

Predicted Effect

unknown
Transcript: ENSMUST00000174819
AA Change: I57T

SMART Domains

Protein: ENSMUSP00000133695
Gene: ENSMUSG00000028797
AA Change: I57T

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

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

silent
Transcript: ENSMUST00000181579

SMART Domains

Protein: ENSMUSP00000137989
Gene: ENSMUSG00000028797

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (42/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	T	5: 8,914,119 (GRCm39)	Y1163F	probably damaging	Het
Abcd4	A	G	12: 84,649,920 (GRCm39)	V589A	probably benign	Het
Adam26b	T	A	8: 43,972,998 (GRCm39)	N668I	probably benign	Het
Atp2b2	T	C	6: 113,819,275 (GRCm39)	N6S	possibly damaging	Het
Cacna2d2	A	G	9: 107,392,063 (GRCm39)	Y468C	probably damaging	Het
Cngb1	A	T	8: 96,002,252 (GRCm39)	V52D		Het
Cped1	A	T	6: 22,254,601 (GRCm39)	Y998F	probably benign	Het
Csmd1	A	G	8: 16,039,188 (GRCm39)	V2390A	probably benign	Het
Ctsj	A	T	13: 61,148,330 (GRCm39)	C321*	probably null	Het
Dip2a	A	C	10: 76,122,297 (GRCm39)	I139S	probably benign	Het
Dnaaf9	T	C	2: 130,559,248 (GRCm39)	I937V	probably damaging	Het
Eif1	A	G	11: 100,210,795 (GRCm39)		probably benign	Het
Exoc1	T	C	5: 76,711,087 (GRCm39)	I662T	probably benign	Het
Flt4	A	G	11: 49,528,089 (GRCm39)	R971G	probably benign	Het
Hecw2	T	C	1: 53,879,928 (GRCm39)	T1294A	probably damaging	Het
Herc2	T	G	7: 55,879,410 (GRCm39)	V4676G	possibly damaging	Het
Hif1a	A	G	12: 73,992,022 (GRCm39)		probably benign	Het
Icam5	C	A	9: 20,946,822 (GRCm39)	A450E	possibly damaging	Het
Map3k21	T	A	8: 126,637,498 (GRCm39)	M28K	probably benign	Het
Mars1	C	A	10: 127,141,348 (GRCm39)	R347L	probably benign	Het
Mctp1	A	T	13: 76,905,174 (GRCm39)	I426F	probably benign	Het
Mdn1	T	C	4: 32,731,960 (GRCm39)	S3007P	possibly damaging	Het
Mical3	T	C	6: 120,998,149 (GRCm39)	R65G	possibly damaging	Het
Ncald	G	T	15: 37,397,505 (GRCm39)	Y58*	probably null	Het
Neil2	A	T	14: 63,426,154 (GRCm39)	I72K	probably benign	Het
Or8b35	C	A	9: 37,904,401 (GRCm39)	Y204*	probably null	Het
Or8k23	A	G	2: 86,186,691 (GRCm39)	F12L	probably damaging	Het
Pan2	A	G	10: 128,154,189 (GRCm39)	D1086G	probably damaging	Het
Plxnb1	A	G	9: 108,935,870 (GRCm39)	T1087A	probably damaging	Het
Prpf39	A	G	12: 65,103,132 (GRCm39)	M469V	probably benign	Het
Ptprk	A	T	10: 28,444,323 (GRCm39)	S905C	probably damaging	Het
Rassf5	T	C	1: 131,140,067 (GRCm39)	D164G	possibly damaging	Het
Setd1a	T	C	7: 127,385,356 (GRCm39)	W688R	possibly damaging	Het
Sfswap	C	T	5: 129,616,783 (GRCm39)	T409I	probably damaging	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Slfn9	G	C	11: 82,872,095 (GRCm39)	N880K	probably damaging	Het
Sprr1b	T	C	3: 92,344,720 (GRCm39)	K52R	probably benign	Het
Tfb2m	T	C	1: 179,356,770 (GRCm39)	D388G	probably damaging	Het
Traj43	A	G	14: 54,412,201 (GRCm39)	N1D		Het
Trmt1l	T	A	1: 151,333,543 (GRCm39)	I682N	probably damaging	Het
Trp53rka	T	C	2: 165,333,445 (GRCm39)	D148G	probably damaging	Het
Vmn2r86	A	G	10: 130,285,855 (GRCm39)	V440A	probably benign	Het
Vxn	C	T	1: 9,683,613 (GRCm39)	T67I	probably benign	Het
Wdfy3	C	T	5: 102,085,287 (GRCm39)	V736I	probably benign	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
R6651:Tmem234	UTSW	4	129,501,264 (GRCm39)	missense	possibly damaging	0.95
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'- CAAGTGTGTCCCCAGTATGC -3'
(R):5'- CACCCATGGGAGTCAGAATC -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- CGGGAAAATGTTCATGTATGCC -3'

Posted On

2020-10-23