Mutagenetix > Incidental Mutation

Incidental Mutation 'R9370:Tmem234'

709259

Institutional Source

Beutler Lab

Gene Symbol

Tmem234

Ensembl Gene

ENSMUSG00000028797

Gene Name

transmembrane protein 234

Synonyms

1500002D11Rik, 2510006D16Rik, 4933407D05Rik

MMRRC Submission

068964-MU

Accession Numbers

Essential gene?

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

Stock #

R9370 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129494449-129502326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129500922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 93 (V93D)

Ref Sequence

ENSEMBL: ENSMUSP00000099651 (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

probably damaging
Transcript: ENSMUST00000102591
AA Change: V93D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099651
Gene: ENSMUSG00000028797
AA Change: V93D

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

probably damaging
Transcript: ENSMUST00000173758
AA Change: V84D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134588
Gene: ENSMUSG00000028797
AA Change: V84D

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

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

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

probably damaging
Transcript: ENSMUST00000181579
AA Change: V93D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137989
Gene: ENSMUSG00000028797
AA Change: V93D

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

Coding Region Coverage

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1d1	T	A	6: 37,544,099 (GRCm39)	*326R	probably null	Het
Cntn5	T	A	9: 9,833,520 (GRCm39)	I344F	probably benign	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Eln	C	T	5: 134,741,476 (GRCm39)	V563I	unknown	Het
Epb41l5	T	C	1: 119,561,312 (GRCm39)	Y83C	probably damaging	Het
Epha8	T	C	4: 136,673,511 (GRCm39)	D91G	possibly damaging	Het
Fscn3	T	C	6: 28,434,535 (GRCm39)	V370A	probably benign	Het
Gcc2	A	G	10: 58,131,940 (GRCm39)	N1550S	probably benign	Het
Gck	T	C	11: 5,852,244 (GRCm39)	D365G	possibly damaging	Het
Hhatl	C	T	9: 121,617,836 (GRCm39)	G251E	possibly damaging	Het
Hspa12a	A	G	19: 58,813,708 (GRCm39)	F139S	probably damaging	Het
Ikzf2	T	C	1: 69,578,018 (GRCm39)	D497G	probably damaging	Het
Ino80	A	G	2: 119,232,848 (GRCm39)	S1157P	probably damaging	Het
Jmjd6	A	G	11: 116,729,952 (GRCm39)	I315T	probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lyst	C	T	13: 13,935,333 (GRCm39)	H3601Y	probably damaging	Het
Mars2	T	C	1: 55,276,624 (GRCm39)	S76P	probably benign	Het
Mtmr10	A	G	7: 63,969,249 (GRCm39)	E337G	probably benign	Het
Myo5b	A	G	18: 74,760,246 (GRCm39)	D254G	possibly damaging	Het
Nell1	A	T	7: 49,770,292 (GRCm39)	E117V	probably damaging	Het
Pcdhgb7	T	C	18: 37,884,937 (GRCm39)	S36P	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,222 (GRCm39)	L927V	probably damaging	Het
Sacs	T	A	14: 61,441,080 (GRCm39)	I1042N	probably damaging	Het
Skint2	A	G	4: 112,481,259 (GRCm39)	N41D	possibly damaging	Het
Slc5a11	A	G	7: 122,834,855 (GRCm39)	T5A	probably benign	Het
Tbc1d22a	C	T	15: 86,123,441 (GRCm39)	T194I	probably benign	Het
Trim43b	T	C	9: 88,971,559 (GRCm39)	E199G	probably benign	Het
Ttc24	A	T	3: 87,980,136 (GRCm39)	V148E	probably benign	Het
Utp15	A	G	13: 98,387,119 (GRCm39)	F434L	probably damaging	Het
Vmn2r81	A	G	10: 79,104,424 (GRCm39)	Y349C	probably damaging	Het
Xpo5	T	A	17: 46,546,844 (GRCm39)	V865E	probably damaging	Het
Zfhx3	C	T	8: 109,521,340 (GRCm39)	R821C	probably damaging	Het
Zfp90	A	G	8: 107,145,791 (GRCm39)	D41G	probably damaging	Het
Zzef1	T	A	11: 72,744,148 (GRCm39)	C835S	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
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
R9411:Tmem234	UTSW	4	129,495,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCTGCTTCATGTGTCATAG -3'
(R):5'- AAGACAAGATGGTGACCCCTG -3'

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

Posted On

2022-04-18