Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Tmem64'

581193

Institutional Source

Beutler Lab

Gene Symbol

Tmem64

Ensembl Gene

ENSMUSG00000043252

Gene Name

transmembrane protein 64

Synonyms

9630015D15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7498 (G1)

Quality Score

104.009

Status

Not validated

Chromosome

Chromosomal Location

15265831-15286753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15266176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 75 (H75Q)

Ref Sequence

ENSEMBL: ENSMUSP00000055892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062684]

AlphaFold

Q3U145

Predicted Effect

probably benign
Transcript: ENSMUST00000062684
AA Change: H75Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055892
Gene: ENSMUSG00000043252
AA Change: H75Q

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	87	104	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC
Pfam:SNARE_assoc	173	296	2.2e-21	PFAM
transmembrane domain	309	331	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired osteoclast differentiation, enhanced osteoblast differentiation and increased bone mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,667,668	E148K	unknown	Het
4932415D10Rik	T	A	10: 82,291,279	T1966S	probably benign	Het
Adgrl2	T	A	3: 148,859,216	K243*	probably null	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ahnak	A	T	19: 9,012,019	I3556F	probably benign	Het
Akap6	C	T	12: 53,142,705	R2301*	probably null	Het
Alg6	A	G	4: 99,748,696	T305A	probably damaging	Het
Alpk1	C	T	3: 127,679,778	A859T	probably benign	Het
Apba3	T	A	10: 81,268,901	F3I	possibly damaging	Het
Birc6	A	G	17: 74,660,470	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,088,119	F1134I	probably benign	Het
C6	A	T	15: 4,763,364	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,717,102	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,103,231	R385L	possibly damaging	Het
Ccdc151	A	G	9: 22,002,257	I73T	probably damaging	Het
Ciz1	A	T	2: 32,371,749	M482L	probably benign	Het
Crisp3	A	G	17: 40,225,802		probably null	Het
Dcaf15	G	A	8: 84,101,763	P233S	probably damaging	Het
Def8	A	G	8: 123,447,844	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,325,765	S3569A	probably damaging	Het
Dok6	C	T	18: 89,769,319		probably benign	Het
Dopey1	A	T	9: 86,494,411	T233S	possibly damaging	Het
Ep300	T	A	15: 81,639,843	V1325D	unknown	Het
Fancm	T	A	12: 65,099,391	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194	S111G	probably benign	Het
Fbxo21	T	C	5: 118,002,174		probably null	Het
Fdx1	A	C	9: 51,948,598	L144R	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Flot2	G	A	11: 78,053,362		probably null	Het
Fndc10	C	T	4: 155,694,738	R80C	probably damaging	Het
Fut8	A	T	12: 77,412,934	T274S	probably benign	Het
Gli2	T	C	1: 118,835,835	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Gm7697	A	C	8: 69,519,823	Y91*	probably null	Het
Hdlbp	T	A	1: 93,413,615	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,383,475		probably null	Het
Inhbb	C	T	1: 119,417,878	R227H	probably damaging	Het
Kifc1	A	G	17: 33,883,872	F256L	probably benign	Het
Lman2	A	T	13: 55,346,977	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,919,077	V242A	probably benign	Het
Mettl8	A	C	2: 70,965,625	V306G	probably damaging	Het
Mog	A	T	17: 37,012,092		probably null	Het
Morc2b	G	A	17: 33,137,859	A313V	possibly damaging	Het
Myh3	A	G	11: 67,097,048	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,283,437	T200K	possibly damaging	Het
Myo16	T	A	8: 10,400,589	H530Q	unknown	Het
Neb	C	T	2: 52,258,176	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539	F141L	possibly damaging	Het
Obscn	G	A	11: 59,082,713	H1931Y	probably damaging	Het
Olfr121	A	G	17: 37,752,351	T166A	probably damaging	Het
Olfr508	T	A	7: 108,630,416	C141*	probably null	Het
Olfr710	A	T	7: 106,944,368	V211D	possibly damaging	Het
Plcb1	T	A	2: 135,262,233	L274*	probably null	Het
Plcb1	G	T	2: 135,262,234	L274F	probably damaging	Het
Prc1	C	T	7: 80,313,150	T564M	possibly damaging	Het
Psd4	G	A	2: 24,406,984	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,436,565	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,620,004	R249L	probably damaging	Het
Slain1	G	A	14: 103,655,993		probably null	Het
Slfn9	A	T	11: 82,982,187	I630N	probably damaging	Het
Smg6	G	A	11: 74,929,106	A68T	probably benign	Het
Spef2	T	A	15: 9,727,539	M153L	probably benign	Het
St8sia4	T	A	1: 95,591,693	M357L	probably benign	Het
Tal1	A	T	4: 115,068,682	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,848,017	E1207G	probably damaging	Het
Tor4a	A	G	2: 25,195,792	V33A	probably benign	Het
Traj52	C	T	14: 54,165,361	T15I		Het
Trim50	G	A	5: 135,363,914	V228M	probably benign	Het
Trpm1	A	T	7: 64,208,909	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,876,120	R1835W	probably damaging	Het
Ubn1	T	C	16: 5,077,105	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,474,641	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,927,196	S2223G	unknown	Het
Wnt7b	G	T	15: 85,543,679	A194E	probably damaging	Het
Zmpste24	A	G	4: 121,082,831	V206A	probably benign	Het

Other mutations in Tmem64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Tmem64	APN	4	15266694	missense	probably damaging	1.00
IGL02407:Tmem64	APN	4	15266584	missense	probably damaging	1.00
PIT4151001:Tmem64	UTSW	4	15283159	missense	probably damaging	1.00
R0257:Tmem64	UTSW	4	15266343	missense	probably damaging	1.00
R0737:Tmem64	UTSW	4	15266717	missense	probably damaging	0.98
R2217:Tmem64	UTSW	4	15266658	missense	possibly damaging	0.89
R2218:Tmem64	UTSW	4	15266658	missense	possibly damaging	0.89
R2571:Tmem64	UTSW	4	15266718	missense	probably damaging	1.00
R5133:Tmem64	UTSW	4	15281119	missense	probably damaging	1.00
R5707:Tmem64	UTSW	4	15266288	missense	probably damaging	0.98
R7219:Tmem64	UTSW	4	15266700	missense	probably damaging	1.00
R8967:Tmem64	UTSW	4	15266575	missense	probably damaging	0.99
R9086:Tmem64	UTSW	4	15266718	missense	probably damaging	1.00
R9093:Tmem64	UTSW	4	15266391	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TGACCGACCACCCAGCTATG -3'
(R):5'- CGATGAAGCCCACGACGAAG -3'

Sequencing Primer
(F):5'- GACCACCCAGCTATGTCTCCG -3'
(R):5'- TCTCCACCCAGAGCAGGAG -3'

Posted On

2019-10-17