Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02640:Tmem234'

301702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem234

Ensembl Gene

ENSMUSG00000028797

Gene Name

transmembrane protein 234

Synonyms

1500002D11Rik, 2510006D16Rik, 4933407D05Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02640

Quality Score

Status

Chromosome

Chromosomal Location

129494449-129502326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129494896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 46 (Q46R)

Ref Sequence

ENSEMBL: ENSMUSP00000133325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102591] [ENSMUST00000102593] [ENSMUST00000127919] [ENSMUST00000129515] [ENSMUST00000135055] [ENSMUST00000135628] [ENSMUST00000137090] [ENSMUST00000150110] [ENSMUST00000172774] [ENSMUST00000173937] [ENSMUST00000152126] [ENSMUST00000151969] [ENSMUST00000174073] [ENSMUST00000173758] [ENSMUST00000174819] [ENSMUST00000181579]

AlphaFold

Q8R1E7

Predicted Effect

probably benign
Transcript: ENSMUST00000102591
AA Change: Q46R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099651
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102593

SMART Domains

Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798

Domain	Start	End	E-Value	Type
WD40	1	38	1.1e1	SMART
WD40	41	80	1.07e-8	SMART
WD40	135	174	3.84e0	SMART
WD40	177	216	6.63e-5	SMART
Blast:WD40	219	257	2e-18	BLAST
WD40	274	313	3.75e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000127919
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123153
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129515
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117184
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135055

SMART Domains

Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798

Domain	Start	End	E-Value	Type
WD40	2	32	1.54e0	SMART
Blast:WD40	35	78	1e-9	BLAST
WD40	87	126	3.84e0	SMART
WD40	129	163	8.25e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135628
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120682
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000137090
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150110
AA Change: Q46R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122513
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172774
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133502
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173937
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133412
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152126
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120224
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151969
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120878
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174073
AA Change: Q46R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173758
AA Change: Q46R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134588
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

unknown
Transcript: ENSMUST00000145345
AA Change: Q40R

SMART Domains

Protein: ENSMUSP00000122893
Gene: ENSMUSG00000028797
AA Change: Q40R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173728

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174819
AA Change: Q46R

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133695
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000181579
AA Change: Q46R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137989
Gene: ENSMUSG00000028797
AA Change: Q46R

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

Predicted Effect

unknown
Transcript: ENSMUST00000174610
AA Change: Q40R

SMART Domains

Protein: ENSMUSP00000134104
Gene: ENSMUSG00000028797
AA Change: Q40R

Domain	Start	End	E-Value	Type
Pfam:TMEM234	6	57	3.7e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174350

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh3	C	A	2: 93,826,706 (GRCm39)	R165L	possibly damaging	Het
Arap3	A	G	18: 38,120,855 (GRCm39)	V730A	possibly damaging	Het
Arcn1	A	C	9: 44,662,614 (GRCm39)	I344S	probably damaging	Het
Ascc3	A	C	10: 50,643,470 (GRCm39)	D1807A	possibly damaging	Het
Atp2b3	A	G	X: 72,585,811 (GRCm39)	S615G	probably benign	Het
Ccdc40	A	G	11: 119,128,904 (GRCm39)	N450S	probably benign	Het
Cep41	T	C	6: 30,658,867 (GRCm39)	E160G	probably benign	Het
Cxxc1	T	C	18: 74,354,254 (GRCm39)	L654P	probably damaging	Het
Dusp29	T	A	14: 21,753,123 (GRCm39)	T8S	probably damaging	Het
Gnb4	C	T	3: 32,645,374 (GRCm39)	A106T	probably benign	Het
Gosr1	T	C	11: 76,645,603 (GRCm39)	N59S	probably benign	Het
Itgav	A	G	2: 83,622,283 (GRCm39)	T622A	probably benign	Het
Lamc2	A	G	1: 153,027,803 (GRCm39)	I207T	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Mcm3ap	G	T	10: 76,342,255 (GRCm39)	D1583Y	probably damaging	Het
Mphosph9	A	T	5: 124,453,563 (GRCm39)	F220I	possibly damaging	Het
Or14j2	A	G	17: 37,885,912 (GRCm39)	V134A	possibly damaging	Het
Or2ag16	A	T	7: 106,352,559 (GRCm39)	F12Y	probably damaging	Het
Plcb1	T	G	2: 135,062,779 (GRCm39)		probably benign	Het
Polr3c	G	A	3: 96,624,002 (GRCm39)	T312M	probably damaging	Het
Ppp4r3c2	T	C	X: 88,796,210 (GRCm39)	V14A	probably benign	Het
Ptpn12	G	T	5: 21,224,244 (GRCm39)	D116E	probably damaging	Het
Ptprb	A	G	10: 116,174,569 (GRCm39)	D747G	probably damaging	Het
Scn9a	A	G	2: 66,366,440 (GRCm39)		probably null	Het
Slit3	T	C	11: 35,591,172 (GRCm39)	V1328A	probably benign	Het
Sucla2	C	A	14: 73,819,246 (GRCm39)	S264Y	probably benign	Het
Tagln3	T	C	16: 45,544,596 (GRCm39)	D25G	probably benign	Het
Tbck	A	G	3: 132,480,247 (GRCm39)	T709A	probably benign	Het
Tead1	C	T	7: 112,460,663 (GRCm39)	A189V	probably benign	Het
Trpm1	T	A	7: 63,868,881 (GRCm39)	L395Q	probably damaging	Het
Tti2	T	A	8: 31,645,942 (GRCm39)	W419R	probably damaging	Het
Vmn2r3	A	T	3: 64,194,816 (GRCm39)	M34K	probably benign	Het
Vps13c	G	T	9: 67,793,530 (GRCm39)		probably benign	Het
Zfp521	A	T	18: 13,977,987 (GRCm39)	Y809N	probably benign	Het

Other mutations in Tmem234

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16