Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01371:Tmem235'

76139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem235

Ensembl Gene

ENSMUSG00000070330

Gene Name

transmembrane protein 235

Synonyms

Gm12581, Tmem235

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

117860752-117865543 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117862306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 85 (L85P)

Ref Sequence

ENSEMBL: ENSMUSP00000091432 (fasta)

Gene Model

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

AlphaFold

B1AQL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093905
AA Change: L85P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091432
Gene: ENSMUSG00000070330
AA Change: L85P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,254,776	E504G	possibly damaging	Het
Abcc9	C	T	6: 142,656,614	R691Q	probably benign	Het
AI314180	A	G	4: 58,809,718	L1583P	probably damaging	Het
Ambra1	G	T	2: 91,825,286	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,682,960	I198V	probably benign	Het
Bptf	T	C	11: 107,055,907	N2353S	probably benign	Het
Cd84	A	T	1: 171,886,370	T312S	probably benign	Het
Chl1	G	T	6: 103,715,364	C1064F	probably damaging	Het
Clca4a	T	C	3: 144,960,672	D473G	probably damaging	Het
Dsp	A	G	13: 38,193,617	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,638,851	N2374S	probably benign	Het
Gm43191	A	T	3: 116,645,463	I130N	probably damaging	Het
Gm5134	T	G	10: 76,004,747	L475R	probably damaging	Het
Grm1	A	G	10: 10,720,039	V615A	probably benign	Het
Loxl1	T	A	9: 58,294,422	Q462L	possibly damaging	Het
Nwd1	T	C	8: 72,675,115	W755R	probably damaging	Het
Olfr1102	A	T	2: 87,002,923	K318M	probably benign	Het
Olfr1408	A	G	1: 173,130,531	S229P	possibly damaging	Het
Olfr1459	G	A	19: 13,145,828	T277I	possibly damaging	Het
Otud4	T	C	8: 79,673,761	F1034L	probably damaging	Het
Pakap	C	A	4: 57,856,325	D551E	probably benign	Het
Panx3	T	G	9: 37,661,475	T260P	probably benign	Het
Ppfia4	A	T	1: 134,328,086	S194T	probably benign	Het
Rnf135	T	A	11: 80,189,255	I124N	probably benign	Het
Rpf1	T	C	3: 146,507,547	N283S	probably damaging	Het
Smg5	A	G	3: 88,359,644		probably benign	Het
Stard9	A	G	2: 120,701,368	E2702G	probably benign	Het
Tbk1	A	T	10: 121,559,871	M439K	probably benign	Het
Trhde	A	T	10: 114,588,500	V460E	possibly damaging	Het
Ttn	T	C	2: 76,790,264		probably benign	Het
Vmn1r83	A	G	7: 12,321,233	F299S	probably benign	Het

Other mutations in Tmem235

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0497:Tmem235	UTSW	11	117864351	missense	probably benign	0.01
R0564:Tmem235	UTSW	11	117860848	missense	possibly damaging	0.86
R3778:Tmem235	UTSW	11	117862300	missense	probably benign	0.08
R5364:Tmem235	UTSW	11	117864194	nonsense	probably null
R6064:Tmem235	UTSW	11	117862938	missense	possibly damaging	0.84
R7139:Tmem235	UTSW	11	117860897	missense	probably damaging	0.99
R7567:Tmem235	UTSW	11	117864141	missense	probably benign	0.04
R7884:Tmem235	UTSW	11	117864207	missense	probably benign	0.08
R7904:Tmem235	UTSW	11	117860891	missense	probably damaging	1.00
R9332:Tmem235	UTSW	11	117860839	missense	probably damaging	1.00
X0063:Tmem235	UTSW	11	117862294	missense	probably benign	0.08

Posted On

2013-10-07