Mutagenetix > Incidental Mutation

Incidental Mutation 'R6064:Tmem235'

483980

Institutional Source

Beutler Lab

Gene Symbol

Tmem235

Ensembl Gene

ENSMUSG00000070330

Gene Name

transmembrane protein 235

Synonyms

Gm12581, Tmem235, Cldn27

MMRRC Submission

044228-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R6064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117751578-117756369 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117753764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000091432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093905]

AlphaFold

B1AQL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093905
AA Change: V107A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091432
Gene: ENSMUSG00000070330
AA Change: V107A

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	190	9.7e-14	PFAM
Pfam:Claudin_2	16	192	1.3e-45	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,117,667 (GRCm39)	D1294N	probably damaging	Het
Atf1	A	G	15: 100,150,029 (GRCm39)	T92A	probably benign	Het
Bach1	A	G	16: 87,526,752 (GRCm39)	D738G	probably damaging	Het
Catsper3	T	C	13: 55,954,065 (GRCm39)	F278L	probably damaging	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Cmya5	T	A	13: 93,226,157 (GRCm39)	N2977I	probably damaging	Het
Cnbd1	T	A	4: 18,895,084 (GRCm39)	E219D	probably benign	Het
Dst	A	G	1: 34,233,132 (GRCm39)	D3556G	probably damaging	Het
Duox1	A	G	2: 122,151,243 (GRCm39)	E306G	probably benign	Het
Fstl5	T	A	3: 76,229,605 (GRCm39)	F135L	probably benign	Het
Fyb1	A	C	15: 6,668,349 (GRCm39)	K514T	probably damaging	Het
Gsap	T	A	5: 21,434,223 (GRCm39)	C280S	possibly damaging	Het
Lrig1	T	C	6: 94,603,428 (GRCm39)	E240G	probably damaging	Het
Macc1	A	T	12: 119,409,400 (GRCm39)	H56L	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,234,640 (GRCm39)	R696G	probably damaging	Het
Nup210	T	C	6: 91,032,273 (GRCm39)	I32V	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Or5d16	A	G	2: 87,773,828 (GRCm39)	M48T	probably benign	Het
Or5h17	T	G	16: 58,820,186 (GRCm39)	I46S	probably damaging	Het
Ovch2	T	C	7: 107,395,779 (GRCm39)	T80A	probably damaging	Het
Rad51ap2	T	A	12: 11,507,418 (GRCm39)	Y447N	possibly damaging	Het
Rb1cc1	A	G	1: 6,319,958 (GRCm39)	T1126A	probably benign	Het
Scgb1b10	T	C	7: 31,800,627 (GRCm39)	L72S	probably damaging	Het
Slc25a33	A	G	4: 149,836,921 (GRCm39)	V141A	probably benign	Het
Tbx21	T	C	11: 97,005,737 (GRCm39)	Y76C	probably damaging	Het
Vnn1	G	T	10: 23,770,807 (GRCm39)	A12S	probably benign	Het
Zfp606	T	G	7: 12,214,960 (GRCm39)	W63G	possibly damaging	Het
Zfp788	T	A	7: 41,297,878 (GRCm39)	F119L	probably benign	Het

Other mutations in Tmem235

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Tmem235	APN	11	117,753,132 (GRCm39)	missense	possibly damaging	0.95
R0497:Tmem235	UTSW	11	117,755,177 (GRCm39)	missense	probably benign	0.01
R0564:Tmem235	UTSW	11	117,751,674 (GRCm39)	missense	possibly damaging	0.86
R3778:Tmem235	UTSW	11	117,753,126 (GRCm39)	missense	probably benign	0.08
R5364:Tmem235	UTSW	11	117,755,020 (GRCm39)	nonsense	probably null
R7139:Tmem235	UTSW	11	117,751,723 (GRCm39)	missense	probably damaging	0.99
R7567:Tmem235	UTSW	11	117,754,967 (GRCm39)	missense	probably benign	0.04
R7884:Tmem235	UTSW	11	117,755,033 (GRCm39)	missense	probably benign	0.08
R7904:Tmem235	UTSW	11	117,751,717 (GRCm39)	missense	probably damaging	1.00
R9332:Tmem235	UTSW	11	117,751,665 (GRCm39)	missense	probably damaging	1.00
X0063:Tmem235	UTSW	11	117,753,120 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCGTCTGCTTGAATCTCTGC -3'
(R):5'- CCCAGTGATAAAGGCTGCTGAG -3'

Sequencing Primer
(F):5'- GAATCTCTGCTCTGGTGACC -3'
(R):5'- CTGAGGAATGACCCCTGTGTG -3'

Posted On

2017-07-14