Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Tmem82'

40004

Institutional Source

Beutler Lab

Gene Symbol

Tmem82

Ensembl Gene

ENSMUSG00000043085

Gene Name

transmembrane protein 82

Synonyms

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141341544-141345944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141344701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 81 (T81A)

Ref Sequence

ENSEMBL: ENSMUSP00000120973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038661] [ENSMUST00000053263] [ENSMUST00000143154]

AlphaFold

Q8R115

Predicted Effect

probably benign
Transcript: ENSMUST00000038661

SMART Domains

Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	16	111	2.2e-14	PFAM
Pfam:Mito_carr	113	213	7.6e-18	PFAM
Pfam:Mito_carr	217	314	9.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053263
AA Change: T81A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000058412
Gene: ENSMUSG00000043085
AA Change: T81A

Domain	Start	End	E-Value	Type
Pfam:TMEM82	10	315	2.4e-137	PFAM
low complexity region	342	356	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140726

Predicted Effect

probably benign
Transcript: ENSMUST00000143154
AA Change: T81A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000120973
Gene: ENSMUSG00000043085
AA Change: T81A

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
low complexity region	126	142	N/A	INTRINSIC
transmembrane domain	144	166	N/A	INTRINSIC
transmembrane domain	203	222	N/A	INTRINSIC
transmembrane domain	232	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156246

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Other mutations in Tmem82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Tmem82	APN	4	141,341,954 (GRCm39)	missense	probably benign
R1473:Tmem82	UTSW	4	141,343,589 (GRCm39)	missense	possibly damaging	0.95
R2094:Tmem82	UTSW	4	141,343,598 (GRCm39)	missense	probably benign	0.00
R2902:Tmem82	UTSW	4	141,343,775 (GRCm39)	missense	probably benign	0.17
R3715:Tmem82	UTSW	4	141,344,945 (GRCm39)	splice site	probably null
R4728:Tmem82	UTSW	4	141,341,963 (GRCm39)	missense	probably benign
R6332:Tmem82	UTSW	4	141,343,721 (GRCm39)	missense	probably damaging	0.99
R7171:Tmem82	UTSW	4	141,342,284 (GRCm39)	missense	possibly damaging	0.60
R7282:Tmem82	UTSW	4	141,342,261 (GRCm39)	missense	possibly damaging	0.80
R7404:Tmem82	UTSW	4	141,344,742 (GRCm39)	missense	possibly damaging	0.94
R7593:Tmem82	UTSW	4	141,343,605 (GRCm39)	missense	probably damaging	0.99
R7790:Tmem82	UTSW	4	141,345,035 (GRCm39)	splice site	probably null
R9299:Tmem82	UTSW	4	141,343,861 (GRCm39)	nonsense	probably null
R9470:Tmem82	UTSW	4	141,342,341 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAATCCAGAGGATGAAAGTGGC -3'
(R):5'- AGTCTCGGTTCTCAACAGTCTCCTG -3'

Sequencing Primer
(F):5'- TGAAAGTGGCCCAGAGTG -3'
(R):5'- TCAAGTGAGTGTCCACGTC -3'

Posted On

2013-05-23