Mutagenetix > Incidental Mutation

Incidental Mutation 'R5707:Tmem64'

452008

Institutional Source

Beutler Lab

Gene Symbol

Tmem64

Ensembl Gene

ENSMUSG00000043252

Gene Name

transmembrane protein 64

Synonyms

9630015D15Rik

MMRRC Submission

043332-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5707 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

15265831-15286753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15266288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 113 (C113R)

Ref Sequence

ENSEMBL: ENSMUSP00000055892 (fasta)

Gene Model

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

AlphaFold

Q3U145

Predicted Effect

probably damaging
Transcript: ENSMUST00000062684
AA Change: C113R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055892
Gene: ENSMUSG00000043252
AA Change: C113R

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

Meta Mutation Damage Score

0.2877

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,460,620 (GRCm39)	L4210P	probably damaging	Het
Adcy6	T	C	15: 98,496,622 (GRCm39)	T518A	probably damaging	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aqp11	A	G	7: 97,386,635 (GRCm39)	V187A	possibly damaging	Het
Arhgef15	A	G	11: 68,845,541 (GRCm39)	S104P	probably damaging	Het
Birc6	T	A	17: 75,003,399 (GRCm39)	N4762K	probably damaging	Het
Cacna1e	T	C	1: 154,509,463 (GRCm39)	D264G	probably damaging	Het
Cela3b	G	T	4: 137,152,167 (GRCm39)	Q97K	probably damaging	Het
Cenpc1	T	A	5: 86,183,293 (GRCm39)	R499W	possibly damaging	Het
Chct1	A	G	11: 85,064,138 (GRCm39)	N93S	probably benign	Het
Cnr1	C	A	4: 33,944,330 (GRCm39)	C239*	probably null	Het
Col6a2	T	C	10: 76,446,865 (GRCm39)	K348E	possibly damaging	Het
Ctnnb1	C	A	9: 120,784,234 (GRCm39)	L368I	probably benign	Het
Diras1	T	C	10: 80,857,915 (GRCm39)	E112G	probably benign	Het
Dop1a	T	A	9: 86,385,050 (GRCm39)	M332K	possibly damaging	Het
Dpy19l1	T	C	9: 24,325,563 (GRCm39)	*747W	probably null	Het
Dydc2	T	G	14: 40,783,911 (GRCm39)	T71P	probably damaging	Het
Elapor2	A	G	5: 9,491,698 (GRCm39)	Y686C	probably damaging	Het
Ggt1	T	A	10: 75,421,072 (GRCm39)	I429N	probably benign	Het
Gm5114	G	C	7: 39,060,700 (GRCm39)	L50V	probably benign	Het
Gm5121	T	G	9: 57,241,766 (GRCm39)		noncoding transcript	Het
Kidins220	A	G	12: 25,063,390 (GRCm39)	D933G	probably damaging	Het
Kirrel3	A	G	9: 34,924,572 (GRCm39)	K286R	probably damaging	Het
Klf5	T	C	14: 99,538,944 (GRCm39)	I39T	probably benign	Het
Krt14	C	T	11: 100,095,584 (GRCm39)	V274I	possibly damaging	Het
Meiob	A	G	17: 25,054,025 (GRCm39)	D364G	probably benign	Het
Mroh7	T	A	4: 106,539,082 (GRCm39)	E1190D	possibly damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Odad4	G	A	11: 100,444,887 (GRCm39)	A348T	probably damaging	Het
Or1af1	C	A	2: 37,109,901 (GRCm39)	N133K	probably benign	Het
Or1e23	G	T	11: 73,407,451 (GRCm39)	D191E	probably damaging	Het
Or2b2b	A	G	13: 21,858,769 (GRCm39)	L115P	probably damaging	Het
Pcare	G	T	17: 72,058,567 (GRCm39)	A370E	possibly damaging	Het
Pdlim5	T	A	3: 142,010,060 (GRCm39)	H294L	probably damaging	Het
Pdzd8	A	T	19: 59,288,057 (GRCm39)	D1114E	probably benign	Het
Phf20	T	G	2: 156,138,691 (GRCm39)		probably null	Het
Plec	C	T	15: 76,083,871 (GRCm39)		probably benign	Het
Ppp1r18	T	C	17: 36,178,128 (GRCm39)	M1T	probably null	Het
Ppp4r3a	G	A	12: 101,024,770 (GRCm39)	T243I	probably damaging	Het
Prss41	C	T	17: 24,061,390 (GRCm39)	V134I	probably benign	Het
Pter	T	C	2: 12,982,991 (GRCm39)		probably benign	Het
Rasgef1b	T	G	5: 99,382,461 (GRCm39)	K176N	possibly damaging	Het
Reps1	T	A	10: 17,931,758 (GRCm39)	D16E	probably benign	Het
Slc4a5	T	A	6: 83,238,397 (GRCm39)	D73E	probably benign	Het
Smgc	A	T	15: 91,744,861 (GRCm39)	T146S	possibly damaging	Het
Sptbn1	A	T	11: 30,093,174 (GRCm39)	W396R	possibly damaging	Het
Stkld1	A	G	2: 26,833,999 (GRCm39)	E162G	probably damaging	Het
Tanc1	T	C	2: 59,588,874 (GRCm39)	F106L	probably benign	Het
Tarbp1	A	G	8: 127,193,883 (GRCm39)	Y340H	probably damaging	Het
Tenm2	T	C	11: 35,938,009 (GRCm39)	I1556V	possibly damaging	Het
Try4	T	C	6: 41,281,977 (GRCm39)	F188L	possibly damaging	Het
Ucn3	A	G	13: 3,991,556 (GRCm39)	V32A	probably benign	Het
Vmn2r83	T	A	10: 79,327,183 (GRCm39)	M597K	possibly damaging	Het
Wdr90	A	G	17: 26,076,166 (GRCm39)	V491A	probably benign	Het
Xylt1	T	A	7: 117,255,717 (GRCm39)	M763K	possibly damaging	Het
Zfp507	G	T	7: 35,493,588 (GRCm39)	A485E	probably damaging	Het

Other mutations in Tmem64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Tmem64	APN	4	15,266,694 (GRCm39)	missense	probably damaging	1.00
IGL02407:Tmem64	APN	4	15,266,584 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Tmem64	UTSW	4	15,283,159 (GRCm39)	missense	probably damaging	1.00
R0257:Tmem64	UTSW	4	15,266,343 (GRCm39)	missense	probably damaging	1.00
R0737:Tmem64	UTSW	4	15,266,717 (GRCm39)	missense	probably damaging	0.98
R2217:Tmem64	UTSW	4	15,266,658 (GRCm39)	missense	possibly damaging	0.89
R2218:Tmem64	UTSW	4	15,266,658 (GRCm39)	missense	possibly damaging	0.89
R2571:Tmem64	UTSW	4	15,266,718 (GRCm39)	missense	probably damaging	1.00
R5133:Tmem64	UTSW	4	15,281,119 (GRCm39)	missense	probably damaging	1.00
R7219:Tmem64	UTSW	4	15,266,700 (GRCm39)	missense	probably damaging	1.00
R7498:Tmem64	UTSW	4	15,266,176 (GRCm39)	missense	probably benign	0.00
R8967:Tmem64	UTSW	4	15,266,575 (GRCm39)	missense	probably damaging	0.99
R9086:Tmem64	UTSW	4	15,266,718 (GRCm39)	missense	probably damaging	1.00
R9093:Tmem64	UTSW	4	15,266,391 (GRCm39)	missense	probably benign	0.35

Predicted Primers

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

Sequencing Primer
(F):5'- TGCGGGGTGCCATGGAAG -3'
(R):5'- CCCACGACGAAGAGCAGG -3'

Posted On

2017-01-03