Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03046:Tmem8'

391884

Institutional Source

Beutler Lab

Gene Symbol

Tmem8

Ensembl Gene

ENSMUSG00000024180

Gene Name

transmembrane protein 8 (five membrane-spanning domains)

Synonyms

M83

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL03046 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

26113316-26123254 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 26119440 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121651 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025010
AA Change: Y492F

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: Y492F

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 null
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

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.1459

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,150	L279Q	possibly damaging	Het
A2m	T	A	6: 121,659,323	M717K	probably benign	Het
Acad12	C	A	5: 121,609,966	V130L	probably benign	Het
Cdca2	T	C	14: 67,700,022		probably benign	Het
Cfap100	T	A	6: 90,412,350		probably null	Het
Cfap43	T	A	19: 47,815,863	E298V	probably damaging	Het
Cic	C	T	7: 25,291,075	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,604,338	D611G	probably benign	Het
Daglb	C	T	5: 143,501,193	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,803,281	I438K	probably benign	Het
Ddx5	C	A	11: 106,785,045	R273M	probably damaging	Het
Eepd1	C	T	9: 25,482,685	L82F	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Exoc6	T	C	19: 37,593,769		probably null	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Foxs1	T	C	2: 152,932,564	T190A	probably benign	Het
Gje1	A	G	10: 14,716,630	L136P	probably damaging	Het
Hdac11	A	G	6: 91,168,845	T176A	probably benign	Het
Hhip	C	A	8: 79,972,338	V700L	probably damaging	Het
Hps5	T	C	7: 46,777,039		probably benign	Het
Itgb1bp1	T	C	12: 21,279,435	S13G	unknown	Het
Kcna1	A	T	6: 126,642,185	L391M	possibly damaging	Het
Kif1a	C	T	1: 93,082,406	V6M	probably damaging	Het
Klhl6	T	C	16: 19,982,889	I39V	probably benign	Het
Lpcat4	C	A	2: 112,241,989		silent	Het
Ltn1	A	T	16: 87,405,621	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,287,983	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,292,128		probably null	Het
Mtnr1b	T	C	9: 15,862,763	I333M	probably benign	Het
Muc5ac	G	T	7: 141,795,213	C463F	probably benign	Het
Mycbpap	G	T	11: 94,505,717	T99N	possibly damaging	Het
Myo7a	C	T	7: 98,079,327	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,790,960	H311R	probably damaging	Het
Nepro	T	A	16: 44,732,146		probably benign	Het
Nop56	A	T	2: 130,275,569		probably benign	Het
Nup210	A	G	6: 91,018,996		probably benign	Het
Olfr1426	A	G	19: 12,088,027	V255A	probably damaging	Het
Olfr843	T	A	9: 19,249,145	I85F	probably damaging	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pkhd1	T	G	1: 20,537,365	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,328,412	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,129,027		probably benign	Het
Prss43	C	G	9: 110,830,981	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,695,157	V1322D	probably damaging	Het
Rrp8	A	G	7: 105,734,902	V131A	probably benign	Het
Rtp1	A	T	16: 23,429,294	K39M	probably benign	Het
Slc1a6	A	G	10: 78,800,174	I358V	probably benign	Het
Slc25a15	T	C	8: 22,395,710		probably benign	Het
Slc43a1	G	A	2: 84,854,553		probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Spock3	T	G	8: 63,348,984		probably null	Het
Tbc1d7	T	C	13: 43,154,686		probably null	Het
Tmem184c	C	T	8: 77,599,657	W260*	probably null	Het
Trnau1ap	A	G	4: 132,311,941	Y265H	probably damaging	Het
Usp25	T	C	16: 77,074,866	F363S	probably damaging	Het
Vcl	T	C	14: 21,022,017	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,210,732	M292K	probably benign	Het
Xpc	G	T	6: 91,510,481	A89E	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGGGTTCTCCTTTTCCAC -3'
(R):5'- TCCCTTACACCTAGACTGGG -3'

Sequencing Primer
(F):5'- ATCCCACAGCAGCACAAG -3'
(R):5'- TTACACCTAGACTGGGGGTCC -3'

Posted On

2016-06-07