Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Tmem8'

459979

Institutional Source

Beutler Lab

Gene Symbol

Tmem8

Ensembl Gene

ENSMUSG00000024180

Gene Name

transmembrane protein 8 (five membrane-spanning domains)

Synonyms

M83

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

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

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26113316-26123254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26121998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 692 (Y692H)

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: Y692H

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: Y692H

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: ENSMUST00000127647

SMART Domains

Protein: ENSMUSP00000115369
Gene: ENSMUSG00000024181

Domain	Start	End	E-Value	Type
PDB:4CE4\|1	2	44	5e-19	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000128597
AA Change: Y161H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180
AA Change: Y161H

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

0.1983

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,939,108	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,507,636		probably null	Het
Arhgdib	A	T	6: 136,924,138	W198R	probably damaging	Het
Atad5	T	A	11: 80,127,285	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,308,621	K500*	probably null	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Cmip	A	T	8: 117,257,309	T70S	possibly damaging	Het
Col22a1	G	T	15: 72,006,966	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,361,680	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,444,323		probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,381,672		probably benign	Het
Dnah5	A	T	15: 28,335,718	T2277S	probably benign	Het
Dysf	T	A	6: 84,207,212	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,290,243		probably benign	Het
Elp3	A	G	14: 65,582,177	Y111H	probably damaging	Het
Eps8l2	A	T	7: 141,356,346	Q243L	probably benign	Het
Eri2	C	A	7: 119,786,068	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,166,887	N614K	probably damaging	Het
Gm5108	T	G	5: 67,976,871	I74S	unknown	Het
Gpn1	T	C	5: 31,500,891	F130L	probably damaging	Het
Gpr176	T	A	2: 118,373,040	I50F	probably benign	Het
Gramd1a	A	G	7: 31,139,821	S221P	probably benign	Het
Hivep3	A	G	4: 120,097,108	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,879,399		noncoding transcript	Het
Itgb2	C	A	10: 77,546,034	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,843,005	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,909,376		probably benign	Het
Kif15	A	G	9: 123,017,261	S76G	probably benign	Het
Kpna3	C	T	14: 61,384,647	V223I	probably damaging	Het
Krt80	A	G	15: 101,364,208		probably benign	Het
Lama4	A	G	10: 39,072,812	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,725,424		probably benign	Het
Map4k3	A	G	17: 80,613,919	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,202	N255K	possibly damaging	Het
Npat	A	T	9: 53,562,221	K438*	probably null	Het
Olfr1246	T	A	2: 89,591,100	N5I	possibly damaging	Het
P4htm	T	C	9: 108,597,383	Y61C	probably damaging	Het
Polr3h	G	T	15: 81,917,279		probably null	Het
Prlr	C	T	15: 10,322,446	T176I	probably benign	Het
Psme4	T	G	11: 30,804,294	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 101,060,652	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792	E448G	probably damaging	Het
Rpf1	A	T	3: 146,519,463		probably null	Het
Sectm1b	T	C	11: 121,055,674	I132V	probably benign	Het
Sestd1	T	A	2: 77,187,159	H688L	probably benign	Het
Sidt2	T	C	9: 45,944,454	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,111,111	K938M	probably damaging	Het
Sin3b	C	A	8: 72,749,878	R647S	probably benign	Het
Slc16a14	T	C	1: 84,912,267	H439R	possibly damaging	Het
Stc1	T	C	14: 69,032,373	V134A	probably benign	Het
Stk11ip	G	A	1: 75,524,691	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Thra	G	A	11: 98,763,688	V295I	possibly damaging	Het
Tnr	T	C	1: 159,912,766	M1170T	probably damaging	Het
Tpcn2	T	A	7: 145,278,784	I112F	probably damaging	Het
Trdv2-2	T	C	14: 53,961,541	L96P	probably damaging	Het
Trim24	T	A	6: 37,958,569	W832R	probably damaging	Het
Usp4	T	G	9: 108,391,760	S891A	probably benign	Het
Vmn1r88	A	T	7: 13,178,513	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,624,494	L60S	probably benign	Het
Wdr74	T	C	19: 8,739,833	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,268,653		probably benign	Het
Xpo1	A	T	11: 23,268,656		probably benign	Het
Zfp850	C	A	7: 27,990,195	G196V	probably benign	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
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
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'- GTGCCGATAACCACTAGGCATG -3'
(R):5'- CATCCCGATCATTCCTGCAG -3'

Sequencing Primer
(F):5'- GCATGAGGCCATATGCACTTC -3'
(R):5'- ATTCCTGCAGATCTGGTAGTGACAAG -3'

Posted On

2017-02-28