Mutagenetix > Incidental Mutation

Incidental Mutation 'R1593:Tmem8'

175644

Institutional Source

Beutler Lab

Gene Symbol

Tmem8

Ensembl Gene

ENSMUSG00000024180

Gene Name

transmembrane protein 8 (five membrane-spanning domains)

Synonyms

M83

MMRRC Submission

039630-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1593 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

26113316-26123254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26118407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 399 (I399N)

Ref Sequence

ENSEMBL: ENSMUSP00000025010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000128597]

AlphaFold

Q9ESN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025010
AA Change: I399N

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: I399N

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
EGF	495	531	1.99e1	SMART
Pfam:DUF3522	541	725	1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128597

SMART Domains

Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180

Domain	Start	End	E-Value	Type
EGF	3	39	1.99e1	SMART
Pfam:DUF3522	47	143	2e-36	PFAM
Pfam:DUF3522	134	194	2.6e-17	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	T	11: 100,481,755	I902N	possibly damaging	Het
Acsl6	A	G	11: 54,323,308	D88G	probably damaging	Het
Adam1a	A	C	5: 121,519,643	I529S	probably benign	Het
Ap3b1	T	C	13: 94,501,927	V838A	unknown	Het
Arrdc2	T	C	8: 70,837,120	Y280C	probably damaging	Het
Atg10	T	C	13: 91,154,261	T53A	probably benign	Het
Ccdc136	T	C	6: 29,415,584	S699P	probably damaging	Het
Cdc23	C	A	18: 34,636,326	V462L	possibly damaging	Het
Clcn6	C	T	4: 148,014,594	A431T	probably benign	Het
Cntn6	T	G	6: 104,832,580	H525Q	possibly damaging	Het
Ctr9	T	C	7: 111,042,853	F296S	possibly damaging	Het
Ctsq	T	A	13: 61,036,172		probably null	Het
Ehd1	A	G	19: 6,298,300	D436G	probably benign	Het
Epha6	A	T	16: 60,424,904	F311I	probably damaging	Het
Esrrg	A	T	1: 188,066,385	T150S	possibly damaging	Het
Exoc2	C	A	13: 30,856,761	R758L	possibly damaging	Het
Exosc7	G	C	9: 123,131,993	V242L	probably benign	Het
Fcho2	T	C	13: 98,784,807	D190G	possibly damaging	Het
Fgd6	T	C	10: 94,045,032	S583P	probably damaging	Het
Frmd4a	A	G	2: 4,473,188	Y60C	probably damaging	Het
Gldc	A	T	19: 30,113,750	I815N	probably damaging	Het
Grm2	A	T	9: 106,650,914	L257Q	probably damaging	Het
Hectd3	C	A	4: 116,997,020	T289K	possibly damaging	Het
Itgb4	T	C	11: 115,980,991	V207A	probably damaging	Het
Lamb3	A	G	1: 193,330,796	E443G	probably damaging	Het
Meis2	T	A	2: 116,000,264	D256V	probably damaging	Het
Muc4	A	G	16: 32,754,686	N1520S	probably benign	Het
Nckap1l	A	G	15: 103,478,854	R719G	probably null	Het
Olfr800	A	T	10: 129,660,225	R140*	probably null	Het
Pabpc6	A	T	17: 9,667,813	M603K	probably damaging	Het
Pcnx2	C	A	8: 125,759,273	R1862L	probably benign	Het
Pon2	T	C	6: 5,273,003	D122G	probably benign	Het
Ppig	T	A	2: 69,749,081	W378R	unknown	Het
Ralgapa1	T	A	12: 55,770,703	E389D	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rarg	A	G	15: 102,239,941	F233L	probably damaging	Het
Rasgrp2	T	C	19: 6,403,460	F90L	possibly damaging	Het
Rrp12	T	A	19: 41,863,241	H1285L	probably benign	Het
Slc16a13	C	A	11: 70,219,082	A198S	probably benign	Het
Spag9	A	G	11: 94,097,233	D441G	probably damaging	Het
Stxbp5l	A	G	16: 37,116,052	F1099S	probably damaging	Het
Tex19.1	T	A	11: 121,147,253	W146R	probably damaging	Het
Tmod3	T	C	9: 75,511,163	D197G	probably benign	Het
Tpp2	A	G	1: 43,975,433	H644R	probably benign	Het
Trpm2	A	G	10: 77,943,076	V352A	possibly damaging	Het
Tulp1	T	C	17: 28,362,701	K233E	probably damaging	Het
Vsir	A	G	10: 60,357,958	T67A	possibly damaging	Het
Wdr49	T	C	3: 75,396,941	N487S	probably benign	Het
Zbtb20	A	G	16: 43,609,423	N99S	probably damaging	Het
Zfp583	C	T	7: 6,317,009	G335S	probably benign	Het
Zgrf1	T	A	3: 127,561,026	V98E	possibly damaging	Het

Other mutations in Tmem8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Tmem8	APN	17	26117519	missense	probably damaging	0.96
IGL01014:Tmem8	APN	17	26117009	unclassified	probably benign
IGL02167:Tmem8	APN	17	26119071	missense	probably damaging	1.00
IGL02375:Tmem8	APN	17	26119499	missense	probably benign	0.05
IGL02892:Tmem8	APN	17	26119120	missense	probably damaging	1.00
IGL02931:Tmem8	APN	17	26117949	missense	probably benign
IGL03005:Tmem8	APN	17	26118937	missense	probably benign	0.01
IGL03124:Tmem8	APN	17	26116834	missense	probably damaging	0.98
IGL03046:Tmem8	UTSW	17	26119440	splice site	probably null
R0551:Tmem8	UTSW	17	26120602	missense	probably damaging	1.00
R0555:Tmem8	UTSW	17	26117114	missense	probably benign	0.19
R1502:Tmem8	UTSW	17	26120316	missense	possibly damaging	0.82
R1688:Tmem8	UTSW	17	26118908	missense	possibly damaging	0.94
R1829:Tmem8	UTSW	17	26122220	missense	probably damaging	1.00
R2071:Tmem8	UTSW	17	26122043	missense	probably damaging	1.00
R2117:Tmem8	UTSW	17	26117884	missense	possibly damaging	0.67
R3609:Tmem8	UTSW	17	26118886	missense	probably benign	0.23
R3610:Tmem8	UTSW	17	26118886	missense	probably benign	0.23
R4564:Tmem8	UTSW	17	26117863	missense	possibly damaging	0.80
R4749:Tmem8	UTSW	17	26116783	missense	probably damaging	1.00
R4777:Tmem8	UTSW	17	26121541	missense	probably damaging	1.00
R4913:Tmem8	UTSW	17	26120539	missense	probably damaging	1.00
R5098:Tmem8	UTSW	17	26118928	missense	probably damaging	1.00
R5126:Tmem8	UTSW	17	26121640	missense	probably damaging	0.99
R5640:Tmem8	UTSW	17	26118872	missense	possibly damaging	0.50
R5722:Tmem8	UTSW	17	26120562	frame shift	probably null
R5723:Tmem8	UTSW	17	26120562	frame shift	probably null
R5739:Tmem8	UTSW	17	26120451	missense	probably damaging	1.00
R5927:Tmem8	UTSW	17	26121998	missense	probably benign	0.34
R6587:Tmem8	UTSW	17	26121564	missense	probably benign	0.03
R6723:Tmem8	UTSW	17	26120636	missense	probably damaging	0.96
R7588:Tmem8	UTSW	17	26122043	missense	probably damaging	1.00
R7621:Tmem8	UTSW	17	26117891	missense	probably benign	0.00
R7653:Tmem8	UTSW	17	26120449	missense	probably damaging	1.00
R7771:Tmem8	UTSW	17	26122073	missense	probably damaging	1.00
R8037:Tmem8	UTSW	17	26117535	missense	possibly damaging	0.63
R8493:Tmem8	UTSW	17	26121957	missense	probably damaging	1.00
R8956:Tmem8	UTSW	17	26120400	missense	possibly damaging	0.89
R9048:Tmem8	UTSW	17	26121541	missense	probably damaging	1.00
R9574:Tmem8	UTSW	17	26118887	missense	not run

Predicted Primers

PCR Primer
(F):5'- TGACATTTGAGAGCCTGGCTGAAC -3'
(R):5'- AACTTCTACCAGGGACAGGGCTTC -3'

Sequencing Primer
(F):5'- ATGGAGTGTGACCATCCATC -3'
(R):5'- GAAGTCTTTTATCTTGGAGGAATCCC -3'

Posted On

2014-04-24