Mutagenetix > Incidental Mutation

Incidental Mutation 'R3610:Tmem8'

269213

Institutional Source

Beutler Lab

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 #

R3610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26113316-26123254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26118886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 415 (V415I)

Ref Sequence

ENSEMBL: ENSMUSP00000025010 (fasta)

Gene Model

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

AlphaFold

Q9ESN3

Predicted Effect

probably benign
Transcript: ENSMUST00000025010
AA Change: V415I

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: V415I

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	C	A	11: 94,561,346	V457L	probably benign	Het
Cacna1a	C	A	8: 84,559,065	R733S	probably damaging	Het
Cc2d2a	A	T	5: 43,712,326	E856D	probably damaging	Het
Cpeb2	T	C	5: 43,285,933	F989S	probably damaging	Het
Dcaf10	G	T	4: 45,372,962	E409*	probably null	Het
Ddx3y	T	C	Y: 1,263,928	N545S	probably null	Het
Eef2k	A	G	7: 120,889,235	S448G	probably benign	Het
Irf2bpl	T	C	12: 86,881,857	I681V	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Morc2b	A	G	17: 33,136,278	V840A	probably damaging	Het
Rcl1	A	G	19: 29,118,230	T72A	probably benign	Het
Robo1	T	C	16: 72,983,770	F796S	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,579,904		probably null	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Tars	T	C	15: 11,392,904	Y152C	probably damaging	Het
Tmem184a	A	G	5: 139,807,955		probably null	Het
Tsc2	A	C	17: 24,622,550	I365S	possibly damaging	Het
Usp17la	G	A	7: 104,861,072	V295I	probably damaging	Het
Vim	A	T	2: 13,578,626	H253L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACTTTGGGCTAGCAGGC -3'
(R):5'- TACCAGTTGTCTGTCTCCGG -3'

Sequencing Primer
(F):5'- CTAGCAGGCGGCCTCCC -3'
(R):5'- CCATGTGAGATGAGGCTCTCAG -3'

Posted On

2015-02-19