Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01098:Tmed8'

52447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmed8

Ensembl Gene

ENSMUSG00000034111

Gene Name

transmembrane p24 trafficking protein 8

Synonyms

LOC382620, 6430595O10Rik, Mem1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL01098

Quality Score

Status

Chromosome

Chromosomal Location

87213011-87247228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87223445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 98 (A98E)

Ref Sequence

ENSEMBL: ENSMUSP00000043742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037418]

AlphaFold

Q3UHI4

Predicted Effect

probably benign
Transcript: ENSMUST00000037418
AA Change: A98E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043742
Gene: ENSMUSG00000034111
AA Change: A98E

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
Pfam:GOLD_2	186	325	2.2e-73	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,315,453 (GRCm39)	D75G	possibly damaging	Het
Brip1	G	T	11: 85,999,688 (GRCm39)	R765S	possibly damaging	Het
Btbd16	T	C	7: 130,424,975 (GRCm39)	I452T	probably damaging	Het
Cdc42ep4	T	G	11: 113,620,328 (GRCm39)	D21A	probably damaging	Het
Cdx2	T	A	5: 147,243,792 (GRCm39)	M1L	possibly damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Csmd2	C	T	4: 127,952,845 (GRCm39)	T98M	probably damaging	Het
Cyp26a1	A	T	19: 37,688,450 (GRCm39)	Q324L	probably benign	Het
Etaa1	A	G	11: 17,896,059 (GRCm39)	V686A	probably damaging	Het
Gpr6	G	A	10: 40,946,739 (GRCm39)	T281I	probably damaging	Het
Herc1	T	A	9: 66,369,204 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,907,108 (GRCm39)	I2351N	possibly damaging	Het
Lman1	A	G	18: 66,124,711 (GRCm39)	F343L	probably damaging	Het
Lmo1	A	G	7: 108,742,657 (GRCm39)		probably benign	Het
Lrrc17	T	A	5: 21,780,269 (GRCm39)	F414L	probably benign	Het
Man2b2	A	T	5: 36,972,900 (GRCm39)	L538Q	probably damaging	Het
Map3k9	A	G	12: 81,770,928 (GRCm39)	S910P	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,191 (GRCm39)	P80S	probably damaging	Het
Mindy4	G	T	6: 55,261,727 (GRCm39)		probably benign	Het
Msh4	A	T	3: 153,583,619 (GRCm39)		probably benign	Het
Mta2	A	G	19: 8,924,081 (GRCm39)	D187G	probably damaging	Het
Olfml2a	A	G	2: 38,837,226 (GRCm39)		probably null	Het
Pink1	A	T	4: 138,047,408 (GRCm39)		probably null	Het
Plekha6	T	C	1: 133,209,903 (GRCm39)	F575L	possibly damaging	Het
Rpe	C	A	1: 66,745,674 (GRCm39)	D71E	probably benign	Het
Slc5a7	C	T	17: 54,599,988 (GRCm39)	A142T	probably benign	Het
Sptbn1	C	T	11: 30,109,385 (GRCm39)	R70K	probably damaging	Het
Taf1c	G	T	8: 120,329,580 (GRCm39)	Q159K	probably damaging	Het
Tgfb1i1	T	C	7: 127,851,693 (GRCm39)	F311S	probably damaging	Het
Tmc8	T	C	11: 117,683,389 (GRCm39)	V648A	possibly damaging	Het
Tmem200a	A	G	10: 25,870,041 (GRCm39)	I76T	probably damaging	Het
Vmn2r104	T	C	17: 20,268,358 (GRCm39)	E37G	probably benign	Het
Vmn2r18	A	T	5: 151,496,296 (GRCm39)	V474E	probably damaging	Het
Vps52	C	T	17: 34,181,704 (GRCm39)	T510I	possibly damaging	Het
Wwox	G	T	8: 115,172,118 (GRCm39)	G71*	probably null	Het
Zer1	C	T	2: 29,998,232 (GRCm39)		probably null	Het
Zfp296	A	T	7: 19,311,845 (GRCm39)	K117N	possibly damaging	Het

Other mutations in Tmed8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Tmed8	APN	12	87,220,990 (GRCm39)	missense	probably damaging	1.00
R0673:Tmed8	UTSW	12	87,220,878 (GRCm39)	missense	probably damaging	1.00
R2161:Tmed8	UTSW	12	87,221,031 (GRCm39)	missense	probably damaging	1.00
R4663:Tmed8	UTSW	12	87,221,005 (GRCm39)	missense	probably damaging	1.00
R5287:Tmed8	UTSW	12	87,220,957 (GRCm39)	missense	probably damaging	1.00
R7615:Tmed8	UTSW	12	87,228,162 (GRCm39)	critical splice donor site	probably null
R7806:Tmed8	UTSW	12	87,219,204 (GRCm39)	missense	probably damaging	0.99
R7827:Tmed8	UTSW	12	87,246,991 (GRCm39)	unclassified	probably benign
R9011:Tmed8	UTSW	12	87,220,938 (GRCm39)	missense	probably damaging	1.00
R9326:Tmed8	UTSW	12	87,221,395 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21