Mutagenetix > Incidental Mutation

Incidental Mutation 'R8967:Tmem64'

682790

Institutional Source

Beutler Lab

Gene Symbol

Tmem64

Ensembl Gene

ENSMUSG00000043252

Gene Name

transmembrane protein 64

Synonyms

9630015D15Rik

MMRRC Submission

068801-MU

Accession Numbers

Essential gene?

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

Stock #

R8967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15265831-15286753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15266575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 208 (F208L)

Ref Sequence

ENSEMBL: ENSMUSP00000055892 (fasta)

Gene Model

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

AlphaFold

Q3U145

Predicted Effect

probably damaging
Transcript: ENSMUST00000062684
AA Change: F208L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055892
Gene: ENSMUSG00000043252
AA Change: F208L

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

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,242,696 (GRCm39)	S1520P	probably benign	Het
Abhd12	A	G	2: 150,679,351 (GRCm39)	Y291H	probably damaging	Het
Abr	C	A	11: 76,369,855 (GRCm39)	S178I	possibly damaging	Het
Akap13	T	A	7: 75,378,882 (GRCm39)	I422K	possibly damaging	Het
Arfgef2	A	T	2: 166,677,662 (GRCm39)	T185S	probably damaging	Het
Arfip2	A	T	7: 105,286,341 (GRCm39)	Y228N	probably damaging	Het
B4gat1	T	C	19: 5,089,678 (GRCm39)	V225A	probably damaging	Het
Brf1	G	A	12: 112,937,239 (GRCm39)	P183S	probably damaging	Het
Ceacam1	T	C	7: 25,163,297 (GRCm39)	N312S	possibly damaging	Het
Cep135	T	C	5: 76,751,165 (GRCm39)	L337P	probably damaging	Het
Cnppd1	A	T	1: 75,113,265 (GRCm39)	C334*	probably null	Het
Cpxm2	A	T	7: 131,661,564 (GRCm39)	Y408N	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dlx3	T	C	11: 95,014,577 (GRCm39)	Y287H	probably damaging	Het
Dnah7a	A	T	1: 53,682,594 (GRCm39)		probably benign	Het
Dnah9	C	A	11: 66,015,938 (GRCm39)		probably null	Het
Dnai3	T	A	3: 145,761,395 (GRCm39)	N654Y	possibly damaging	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Ecel1	A	T	1: 87,078,862 (GRCm39)	Y526N	probably damaging	Het
Ect2	A	T	3: 27,199,132 (GRCm39)	V218E	probably damaging	Het
Heca	A	G	10: 17,790,738 (GRCm39)		probably null	Het
Hsd17b7	A	T	1: 169,796,685 (GRCm39)	L6*	probably null	Het
Irgc	T	A	7: 24,132,737 (GRCm39)	T27S	probably benign	Het
Lama3	A	C	18: 12,665,096 (GRCm39)	I671L	possibly damaging	Het
Mybl2	T	C	2: 162,914,806 (GRCm39)	L308P	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp1	G	A	2: 127,582,897 (GRCm39)	P672L	probably damaging	Het
Oas3	G	A	5: 120,896,907 (GRCm39)	H905Y	probably damaging	Het
Obscn	A	G	11: 58,972,740 (GRCm39)	V2102A	probably benign	Het
Or10j3	A	G	1: 173,031,039 (GRCm39)	T39A	probably benign	Het
Or1j20	A	T	2: 36,760,066 (GRCm39)	T163S	probably damaging	Het
Or2a57	T	C	6: 43,213,073 (GRCm39)	F177S	probably damaging	Het
Or4p8	A	T	2: 88,727,844 (GRCm39)	Y32*	probably null	Het
Or6z7	A	G	7: 6,484,011 (GRCm39)	L48P	possibly damaging	Het
Pank4	C	G	4: 155,055,415 (GRCm39)	H262D	probably benign	Het
Phkb	T	A	8: 86,756,063 (GRCm39)		probably benign	Het
Pxylp1	G	A	9: 96,707,324 (GRCm39)	T286M	probably damaging	Het
Pygm	A	T	19: 6,434,744 (GRCm39)	D79V	probably damaging	Het
Rapgef4	A	G	2: 72,056,854 (GRCm39)	T682A	possibly damaging	Het
Sec24b	C	T	3: 129,785,084 (GRCm39)	R974Q	probably damaging	Het
Serpinb6e	A	G	13: 34,020,419 (GRCm39)	F230L	possibly damaging	Het
Skint6	A	T	4: 112,729,701 (GRCm39)	L850*	probably null	Het
Slc7a11	C	A	3: 50,338,564 (GRCm39)	V282L	probably benign	Het
Smg1	A	G	7: 117,765,739 (GRCm39)	S1895P	unknown	Het
Tango2	A	G	16: 18,165,763 (GRCm39)		probably benign	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tpcn1	A	T	5: 120,694,023 (GRCm39)	V191E	probably damaging	Het
Zbtb41	A	G	1: 139,370,587 (GRCm39)	I675V	probably benign	Het
Zfp180	T	C	7: 23,804,726 (GRCm39)	S382P	probably damaging	Het
Zfp932	A	G	5: 110,156,883 (GRCm39)	S194G	probably benign	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
R5707:Tmem64	UTSW	4	15,266,288 (GRCm39)	missense	probably damaging	0.98
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
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'- TGAGAAACTGGCGCTGCTG -3'
(R):5'- TTACCGAAAACACTGCATTCTGAAG -3'

Sequencing Primer
(F):5'- ACCTGTTGGTGCCGGAG -3'
(R):5'- TGCATTCTGAAGCCCAAAAGGTATG -3'

Posted On

2021-10-11