Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02302:Tmed8'

287440

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: 0.083) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

87213011-87247228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87220990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 199 (H199N)

Ref Sequence

ENSEMBL: ENSMUSP00000043742 (fasta)

Gene Model

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

AlphaFold

Q3UHI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037418
AA Change: H199N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043742
Gene: ENSMUSG00000034111
AA Change: H199N

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,422,257 (GRCm39)	Q211L	possibly damaging	Het
Abca14	T	A	7: 119,917,968 (GRCm39)		probably benign	Het
Abcb10	A	T	8: 124,685,411 (GRCm39)	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,431,057 (GRCm39)	T909I	probably benign	Het
Arhgef3	A	G	14: 27,084,799 (GRCm39)	N76S	probably benign	Het
Bbx	A	T	16: 50,045,278 (GRCm39)	C320S	probably damaging	Het
Castor2	G	A	5: 134,164,482 (GRCm39)	V148I	possibly damaging	Het
Cdh23	C	A	10: 60,159,302 (GRCm39)	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,948,136 (GRCm39)	A149T	probably damaging	Het
Cntnap4	A	G	8: 113,512,535 (GRCm39)		probably benign	Het
Col6a3	A	T	1: 90,709,482 (GRCm39)	F1905I	unknown	Het
Ddx60	A	G	8: 62,428,866 (GRCm39)	Y792C	possibly damaging	Het
Dennd2b	A	G	7: 109,124,538 (GRCm39)	V1101A	probably damaging	Het
Dock4	T	C	12: 40,775,776 (GRCm39)	L573P	probably damaging	Het
Dop1b	A	G	16: 93,607,005 (GRCm39)	I2103V	probably benign	Het
Ear1	T	G	14: 44,056,504 (GRCm39)	Q121H	probably benign	Het
Eprs1	T	A	1: 185,119,321 (GRCm39)		probably benign	Het
Ero1a	T	C	14: 45,530,619 (GRCm39)	K271R	probably benign	Het
Esyt1	A	G	10: 128,348,236 (GRCm39)	L884P	probably damaging	Het
F2r	T	C	13: 95,741,160 (GRCm39)	N125S	probably damaging	Het
Fam217a	T	C	13: 35,095,144 (GRCm39)	E357G	probably damaging	Het
Gabbr1	C	T	17: 37,365,689 (GRCm39)	R123W	probably damaging	Het
Gimap4	T	G	6: 48,667,347 (GRCm39)	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011 (GRCm38)	V180E	probably benign	Het
Hecw2	A	T	1: 53,972,407 (GRCm39)	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,944,549 (GRCm39)	K42*	probably null	Het
Kcnh7	T	A	2: 62,536,402 (GRCm39)	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,158,868 (GRCm39)	I223N	probably damaging	Het
Lama2	G	A	10: 27,088,039 (GRCm39)	P913S	probably benign	Het
Lgr4	A	G	2: 109,832,841 (GRCm39)	I334M	probably damaging	Het
Lrrc45	G	T	11: 120,609,351 (GRCm39)	E403D	possibly damaging	Het
Mccc2	A	G	13: 100,090,747 (GRCm39)	L462P	probably damaging	Het
Mfsd13b	T	C	7: 120,598,132 (GRCm39)	V346A	probably damaging	Het
Muc6	T	C	7: 141,227,763 (GRCm39)	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,477,091 (GRCm39)	N56S	probably benign	Het
Niban2	A	G	2: 32,811,135 (GRCm39)	I382V	probably benign	Het
Ntn5	G	T	7: 45,343,672 (GRCm39)	R337L	probably damaging	Het
Nynrin	A	G	14: 56,105,962 (GRCm39)	K894E	probably benign	Het
Or1j4	G	T	2: 36,740,715 (GRCm39)	G219V	probably benign	Het
Or2a25	T	A	6: 42,889,272 (GRCm39)	Y272N	probably damaging	Het
Or4f56	A	C	2: 111,703,887 (GRCm39)	S104R	possibly damaging	Het
Or7e168	A	T	9: 19,719,981 (GRCm39)	R122S	probably damaging	Het
Pappa2	T	C	1: 158,542,571 (GRCm39)	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,710,387 (GRCm39)	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,279,006 (GRCm39)	R662L	probably damaging	Het
Ppp5c	G	A	7: 16,742,555 (GRCm39)	S261L	possibly damaging	Het
Qng1	G	A	13: 58,529,749 (GRCm39)	R288W	probably damaging	Het
Rc3h1	T	C	1: 160,765,675 (GRCm39)		probably benign	Het
Rfx8	A	C	1: 39,704,682 (GRCm39)	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,244,507 (GRCm39)	*405E	probably null	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf139	G	T	15: 58,770,606 (GRCm39)	L210F	probably damaging	Het
Rragc	A	G	4: 123,814,879 (GRCm39)	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,794,701 (GRCm39)	V137E	probably damaging	Het
S100pbp	A	T	4: 129,076,234 (GRCm39)	D30E	probably damaging	Het
Smchd1	A	T	17: 71,665,128 (GRCm39)		probably benign	Het
Sppl3	T	A	5: 115,220,390 (GRCm39)	C101S	probably benign	Het
St8sia6	T	C	2: 13,728,324 (GRCm39)	T74A	probably benign	Het
Sult3a1	A	G	10: 33,742,571 (GRCm39)	N66S	possibly damaging	Het
Sv2b	T	A	7: 74,773,947 (GRCm39)	K508M	probably damaging	Het
Terf1	T	C	1: 15,903,626 (GRCm39)	S275P	probably damaging	Het
Tubg2	A	T	11: 101,046,971 (GRCm39)	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,183,848 (GRCm39)		probably benign	Het
Usp34	C	T	11: 23,417,243 (GRCm39)	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,776,945 (GRCm39)	S366P	possibly damaging	Het

Other mutations in Tmed8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Tmed8	APN	12	87,223,445 (GRCm39)	missense	probably benign
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

2015-04-16