Mutagenetix > Incidental Mutation

Incidental Mutation 'R5277:Tmem69'

403992

Institutional Source

Beutler Lab

Gene Symbol

Tmem69

Ensembl Gene

ENSMUSG00000055900

Gene Name

transmembrane protein 69

Synonyms

A630048M13Rik

MMRRC Submission

042864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116408830-116413133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116410458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 171 (F171L)

Ref Sequence

ENSEMBL: ENSMUSP00000102087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030460] [ENSMUST00000069674] [ENSMUST00000106475] [ENSMUST00000106478]

AlphaFold

Q3KQJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000030460

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	376	470	5.1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069674
AA Change: F171L

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065821
Gene: ENSMUSG00000055900
AA Change: F171L

Domain	Start	End	E-Value	Type
Pfam:DUF3429	91	232	1.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106475

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	377	470	1.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106478
AA Change: F171L

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102087
Gene: ENSMUSG00000055900
AA Change: F171L

Domain	Start	End	E-Value	Type
Pfam:DUF3429	93	231	3.9e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138426

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,884,660 (GRCm39)	T54A	probably damaging	Het
Ablim1	T	C	19: 57,143,693 (GRCm39)	R89G	probably damaging	Het
Bco1	T	A	8: 117,844,128 (GRCm39)		probably null	Het
Bhmt	A	T	13: 93,761,393 (GRCm39)	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,478,390 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcaf6	A	G	1: 165,251,915 (GRCm39)	S70P	probably benign	Het
Dclre1a	C	T	19: 56,533,164 (GRCm39)	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,905,201 (GRCm39)	P4021L	probably damaging	Het
Dusp10	A	G	1: 183,769,204 (GRCm39)	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,595,243 (GRCm39)	R374C	probably benign	Het
Fyb2	G	A	4: 104,872,876 (GRCm39)	D686N	probably damaging	Het
Glra3	G	A	8: 56,444,242 (GRCm39)	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,700,177 (GRCm39)		noncoding transcript	Het
Grin2c	A	G	11: 115,144,639 (GRCm39)	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,112,186 (GRCm39)		noncoding transcript	Het
Mc3r	T	C	2: 172,091,707 (GRCm39)	F310L	probably damaging	Het
Myh4	A	G	11: 67,143,180 (GRCm39)	D1036G	probably damaging	Het
Myh6	A	G	14: 55,194,019 (GRCm39)	I790T	probably benign	Het
Myo15a	C	A	11: 60,367,940 (GRCm39)	Y233*	probably null	Het
Nckap5	A	T	1: 125,954,277 (GRCm39)	C758*	probably null	Het
Neurog3	T	A	10: 61,969,632 (GRCm39)	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,020,863 (GRCm39)	L450P	probably benign	Het
Or52d13	A	T	7: 103,110,148 (GRCm39)	L84H	probably damaging	Het
Otog	A	G	7: 45,896,045 (GRCm39)	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,874,207 (GRCm39)	T41K	probably damaging	Het
Prmt5	A	T	14: 54,747,399 (GRCm39)	D459E	probably benign	Het
Ric8b	G	A	10: 84,783,516 (GRCm39)	V125M	probably damaging	Het
Rptor	A	G	11: 119,713,782 (GRCm39)	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,246,498 (GRCm39)	E371D	probably benign	Het
Scaf11	A	T	15: 96,317,107 (GRCm39)	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,409,611 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,217,688 (GRCm39)	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,253,885 (GRCm39)	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,723,192 (GRCm39)		probably null	Het
Tmem63c	T	A	12: 87,104,531 (GRCm39)		probably null	Het
Urod	A	T	4: 116,847,482 (GRCm39)		probably benign	Het
Vmn1r37	A	T	6: 66,708,460 (GRCm39)	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,914,393 (GRCm39)	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 85,815,500 (GRCm39)	S121R	probably benign	Het
Vwde	T	C	6: 13,186,995 (GRCm39)	T831A	probably benign	Het
Wdr70	C	T	15: 8,006,465 (GRCm39)	W362*	probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp7	T	C	15: 76,765,403 (GRCm39)	V32A	probably damaging	Het

Other mutations in Tmem69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Tmem69	APN	4	116,410,671 (GRCm39)	missense	probably benign	0.00
IGL02893:Tmem69	APN	4	116,410,926 (GRCm39)	missense	probably benign
R0551:Tmem69	UTSW	4	116,410,470 (GRCm39)	missense	probably benign	0.11
R2656:Tmem69	UTSW	4	116,410,787 (GRCm39)	missense	probably damaging	1.00
R4393:Tmem69	UTSW	4	116,411,964 (GRCm39)	critical splice donor site	probably null
R4632:Tmem69	UTSW	4	116,410,235 (GRCm39)	missense	probably benign
R5559:Tmem69	UTSW	4	116,410,388 (GRCm39)	missense	probably damaging	1.00
R6053:Tmem69	UTSW	4	116,410,581 (GRCm39)	missense	possibly damaging	0.75
R6954:Tmem69	UTSW	4	116,411,921 (GRCm39)	splice site	probably null
R7403:Tmem69	UTSW	4	116,410,664 (GRCm39)	missense	probably damaging	1.00
R7778:Tmem69	UTSW	4	116,410,595 (GRCm39)	missense	probably damaging	1.00
R9568:Tmem69	UTSW	4	116,411,972 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAATCGGGTCTCTTGGGCC -3'
(R):5'- ATAACTCTGGCGGGGTTAATCC -3'

Sequencing Primer
(F):5'- GGCCCTTTTTCTGGATAAATATTTTC -3'
(R):5'- TCCCCCACTTCTCATGGTAATAAC -3'

Posted On

2016-07-22