Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Tmem8'

282755

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem8

Ensembl Gene

ENSMUSG00000024180

Gene Name

transmembrane protein 8 (five membrane-spanning domains)

Synonyms

M83

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

26113316-26123254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26119071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 450 (S450P)

Ref Sequence

ENSEMBL: ENSMUSP00000025010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000025014] [ENSMUST00000128597]

AlphaFold

Q9ESN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025010
AA Change: S450P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: S450P

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: ENSMUST00000025014

SMART Domains

Protein: ENSMUSP00000025014
Gene: ENSMUSG00000024181

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L28	77	138	3.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123132

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,722		probably benign	Het
Cacna1f	T	C	X: 7,616,019	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,934,300	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,531,333	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,284,359	L8*	probably null	Het
Cited2	T	C	10: 17,724,270	S109P	probably benign	Het
Cnot4	T	C	6: 35,056,224	D286G	possibly damaging	Het
Col5a1	T	C	2: 28,018,556	I52T	probably benign	Het
Cry2	T	C	2: 92,433,821	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,122,826	F153S	probably damaging	Het
Ddr1	T	C	17: 35,690,071	S261G	possibly damaging	Het
Depdc5	G	A	5: 32,903,801	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,720,627		probably benign	Het
Epha8	A	T	4: 136,931,094	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,279,955	G383C	probably damaging	Het
Hydin	T	A	8: 110,418,423	I802N	possibly damaging	Het
Ifne	A	G	4: 88,879,828	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,533,515		probably benign	Het
Lig4	T	A	8: 9,971,821	N653I	probably benign	Het
Nagk	A	G	6: 83,801,106	D246G	probably damaging	Het
Nav1	A	G	1: 135,470,961	S628P	probably damaging	Het
Ncoa3	A	G	2: 166,070,136	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,844,785		probably benign	Het
Nynrin	G	T	14: 55,863,335	R194L	probably damaging	Het
Olfr1115	G	A	2: 87,252,198	C87Y	probably benign	Het
Olfr17	A	T	7: 107,097,661	R65S	probably benign	Het
Olfr45	T	A	7: 140,691,751	V282D	probably damaging	Het
Orc2	A	T	1: 58,483,639		probably benign	Het
Oxgr1	T	A	14: 120,021,930	R288S	probably damaging	Het
Prkcg	T	C	7: 3,322,581		probably null	Het
Prox1	T	C	1: 190,161,280	N323D	probably benign	Het
Prrt1	A	C	17: 34,631,855	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,268,696	D103G	probably damaging	Het
Sardh	G	T	2: 27,191,975	N846K	probably damaging	Het
Slc38a8	T	A	8: 119,487,360	T248S	probably benign	Het
Slc6a18	T	C	13: 73,666,472		probably null	Het
Smcp	T	C	3: 92,584,199	T114A	unknown	Het
Trpv1	A	G	11: 73,254,797	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,881,911	H243L	probably benign	Het
Wdfy3	T	C	5: 101,961,157	M125V	probably damaging	Het
Wnk2	T	C	13: 49,071,125		probably null	Het
Wrn	T	C	8: 33,317,555	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,461,829	L20P	possibly damaging	Het
Zfp608	T	C	18: 54,988,224	H97R	probably damaging	Het
Zfp68	T	A	5: 138,606,367	M565L	probably benign	Het
Zfp687	T	C	3: 95,010,530	T644A	probably benign	Het
Zfp777	C	T	6: 48,044,526	G54D	probably 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
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
R1593:Tmem8	UTSW	17	26118407	missense	possibly damaging	0.63
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	probably damaging	0.98

Posted On

2015-04-16