Mutagenetix > Incidental Mutation

Incidental Mutation 'R0028:Tmem92'

15528

Institutional Source

Beutler Lab

Gene Symbol

Tmem92

Ensembl Gene

ENSMUSG00000075610

Gene Name

transmembrane protein 92

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94668043-94673529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94669778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 118 (V118I)

Ref Sequence

ENSEMBL: ENSMUSP00000125159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100554] [ENSMUST00000143620] [ENSMUST00000162809]

AlphaFold

B7ZWI3

Predicted Effect

probably benign
Transcript: ENSMUST00000100554

SMART Domains

Protein: ENSMUSP00000128300
Gene: ENSMUSG00000075610

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143620

SMART Domains

Protein: ENSMUSP00000129874
Gene: ENSMUSG00000075610

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162809
AA Change: V118I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125159
Gene: ENSMUSG00000075610
AA Change: V118I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
low complexity region	135	150	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 80.7%
3x: 72.7%
10x: 50.3%
20x: 30.1%

Validation Efficiency

96% (74/77)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,596,698 (GRCm39)	F384L	probably benign	Het
AC159748.1	T	C	10: 5,542,006 (GRCm38)		silent	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Ccdc107	A	G	4: 43,495,549 (GRCm39)	T151A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,465,231 (GRCm39)		probably null	Het
Creb1	A	G	1: 64,609,307 (GRCm39)	D126G	probably damaging	Het
Ddb1	T	A	19: 10,596,610 (GRCm39)	V443E	probably damaging	Het
Dnmt3a	T	A	12: 3,950,337 (GRCm39)	S634T	probably damaging	Het
Fras1	A	C	5: 96,825,175 (GRCm39)	N1455T	probably benign	Het
Fyb1	A	G	15: 6,674,395 (GRCm39)		probably benign	Het
Gpr141	C	T	13: 19,936,599 (GRCm39)	V59M	probably damaging	Het
Ikbke	T	C	1: 131,199,921 (GRCm39)	I222V	possibly damaging	Het
Macf1	A	T	4: 123,275,895 (GRCm39)	H6222Q	probably damaging	Het
Mapk8ip3	C	T	17: 25,123,871 (GRCm39)		probably benign	Het
Phactr1	A	T	13: 43,210,655 (GRCm39)	D74V	probably damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Rnasel	A	T	1: 153,630,465 (GRCm39)	D327V	probably benign	Het
Slc25a13	T	C	6: 6,181,047 (GRCm39)	N46D	probably benign	Het
Slc28a2	T	A	2: 122,282,083 (GRCm39)	F261L	probably damaging	Het
Slc6a15	A	T	10: 103,252,541 (GRCm39)	Y568F	probably benign	Het
Slc7a1	A	G	5: 148,272,321 (GRCm39)	V452A	probably benign	Het
Tectb	T	C	19: 55,183,109 (GRCm39)	I330T	probably benign	Het
Tmf1	T	C	6: 97,135,059 (GRCm39)	E985G	probably damaging	Het
Traf5	T	A	1: 191,758,421 (GRCm39)		probably benign	Het
Trip11	T	C	12: 101,851,016 (GRCm39)	E731G	probably damaging	Het
Unc5a	A	G	13: 55,151,726 (GRCm39)	S50G	possibly damaging	Het
Wrnip1	T	C	13: 33,004,280 (GRCm39)	L517P	probably damaging	Het
Zfp202	T	A	9: 40,123,048 (GRCm39)	H603Q	probably damaging	Het

Other mutations in Tmem92

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Tmem92	APN	11	94,673,254 (GRCm39)	missense	possibly damaging	0.71
IGL01674:Tmem92	APN	11	94,669,519 (GRCm39)	missense	probably damaging	0.96
IGL02959:Tmem92	APN	11	94,669,504 (GRCm39)	missense	possibly damaging	0.72
R1905:Tmem92	UTSW	11	94,669,501 (GRCm39)	missense	probably benign	0.04
R2396:Tmem92	UTSW	11	94,673,233 (GRCm39)	missense	probably damaging	0.99
R3056:Tmem92	UTSW	11	94,669,873 (GRCm39)	missense	probably benign
R3116:Tmem92	UTSW	11	94,673,254 (GRCm39)	missense	possibly damaging	0.71
R5096:Tmem92	UTSW	11	94,669,862 (GRCm39)	missense	probably benign	0.05
R5968:Tmem92	UTSW	11	94,669,564 (GRCm39)	missense	probably benign	0.09
R7570:Tmem92	UTSW	11	94,669,816 (GRCm39)	missense	probably benign	0.00
R7816:Tmem92	UTSW	11	94,669,784 (GRCm39)	missense	possibly damaging	0.93

Posted On

2012-12-21