Mutagenetix > Incidental Mutation

Incidental Mutation 'R5559:Tmem69'

436447

Institutional Source

Beutler Lab

Gene Symbol

Tmem69

Ensembl Gene

ENSMUSG00000055900

Gene Name

transmembrane protein 69

Synonyms

A630048M13Rik

MMRRC Submission

043116-MU

Accession Numbers

Essential gene?

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

Stock #

R5559 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116408830-116413133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 116410388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 194 (G194A)

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 damaging
Transcript: ENSMUST00000069674
AA Change: G194A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065821
Gene: ENSMUSG00000055900
AA Change: G194A

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 damaging
Transcript: ENSMUST00000106478
AA Change: G194A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102087
Gene: ENSMUSG00000055900
AA Change: G194A

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	T	16: 88,555,981 (GRCm39)	R65L	unknown	Het
Abcc5	A	T	16: 20,157,636 (GRCm39)	M1307K	probably damaging	Het
Anapc1	A	T	2: 128,522,354 (GRCm39)	C129*	probably null	Het
Brd10	A	C	19: 29,694,363 (GRCm39)	F1710C	possibly damaging	Het
Brox	A	T	1: 183,073,552 (GRCm39)	S39R	possibly damaging	Het
Ccdc168	C	G	1: 44,097,675 (GRCm39)	R1141T	possibly damaging	Het
Cd109	T	C	9: 78,568,250 (GRCm39)	V310A	probably benign	Het
Chd9	G	A	8: 91,742,553 (GRCm39)		probably null	Het
Chmp2b	A	T	16: 65,337,316 (GRCm39)	I170N	probably damaging	Het
Cnp	G	T	11: 100,467,243 (GRCm39)	G62V	probably damaging	Het
Dcp2	C	A	18: 44,538,554 (GRCm39)	P206T	probably damaging	Het
Dhx57	A	T	17: 80,561,808 (GRCm39)	V902E	possibly damaging	Het
Dmwd	G	A	7: 18,814,363 (GRCm39)	V338M	probably damaging	Het
Eva1c	A	G	16: 90,701,139 (GRCm39)	D258G	probably benign	Het
Flvcr2	T	A	12: 85,851,181 (GRCm39)	F448L	probably benign	Het
Garin5b	A	G	7: 4,761,449 (GRCm39)	V421A	probably damaging	Het
Gchfr	C	T	2: 119,000,187 (GRCm39)	H23Y	probably benign	Het
Helz2	T	A	2: 180,871,919 (GRCm39)	M2617L	probably damaging	Het
Ighv5-9-1	A	T	12: 113,699,745 (GRCm39)	Y122*	probably null	Het
Lrrtm3	A	G	10: 63,766,045 (GRCm39)	I514T	probably benign	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Obox5	A	T	7: 15,491,522 (GRCm39)	I21F	probably benign	Het
Or51f1	C	T	7: 102,506,414 (GRCm39)	G25D	possibly damaging	Het
P2rx2	T	C	5: 110,488,427 (GRCm39)	I376V	possibly damaging	Het
Poli	A	G	18: 70,642,356 (GRCm39)	S529P	probably benign	Het
Ruvbl1	T	C	6: 88,450,078 (GRCm39)	I83T	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,483 (GRCm39)	S220P	probably damaging	Het
Serpinb9h	T	A	13: 33,588,301 (GRCm39)	D295E	probably benign	Het
Sf3b3	A	T	8: 111,564,847 (GRCm39)	D320E	probably benign	Het
Slc6a21	C	A	7: 44,937,853 (GRCm39)	L390I	possibly damaging	Het
Smarcd1	T	G	15: 99,601,176 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,317,365 (GRCm39)	S295T	probably benign	Het
Tas2r104	T	A	6: 131,662,094 (GRCm39)	H205L	probably damaging	Het
Unc5c	G	T	3: 141,509,548 (GRCm39)	C676F	probably damaging	Het
Unkl	A	G	17: 25,424,687 (GRCm39)	N52S	probably benign	Het
Vmn1r233	T	C	17: 21,214,839 (GRCm39)	Y37C	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,898 (GRCm39)	N141S	probably damaging	Het
Vmn2r50	T	C	7: 9,771,253 (GRCm39)	Y816C	probably damaging	Het
Vmn2r51	T	A	7: 9,826,128 (GRCm39)	S540C	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
R5277:Tmem69	UTSW	4	116,410,458 (GRCm39)	missense	probably benign	0.15
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'- GATGCTAAAATGCAGCTTTACAGG -3'
(R):5'- CCTAGCTTTCTTGGGAGGGATC -3'

Sequencing Primer
(F):5'- GCTCCCAGCCTAGATATTGAGTAG -3'
(R):5'- CTAGCTTTCTTGGGAGGGATCAGATG -3'

Posted On

2016-10-24