Mutagenetix > Incidental Mutations

Incidental Mutation 'R7182:Tmem62'

559025

Institutional Source

Beutler Lab

Gene Symbol

Tmem62

Ensembl Gene

ENSMUSG00000054484

Gene Name

transmembrane protein 62

Synonyms

B830009D23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120977017-121007852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121004743 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 516 (I516M)

Ref Sequence

ENSEMBL: ENSMUSP00000064310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060455] [ENSMUST00000067582] [ENSMUST00000099488] [ENSMUST00000099489] [ENSMUST00000110686] [ENSMUST00000139428] [ENSMUST00000171260]

Predicted Effect

probably benign
Transcript: ENSMUST00000060455

SMART Domains

Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	318	4.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067582
AA Change: I516M

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: I516M

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Metallophos	56	261	7.3e-11	PFAM
transmembrane domain	430	452	N/A	INTRINSIC
transmembrane domain	479	501	N/A	INTRINSIC
transmembrane domain	530	552	N/A	INTRINSIC
transmembrane domain	573	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099488

SMART Domains

Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	311	4.8e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099489

SMART Domains

Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	3	271	3.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110686
AA Change: I386M

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: I386M

Domain	Start	End	E-Value	Type
transmembrane domain	300	322	N/A	INTRINSIC
transmembrane domain	349	371	N/A	INTRINSIC
transmembrane domain	400	422	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139428

SMART Domains

Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SCOP:d1utea_	59	274	9e-9	SMART
low complexity region	308	327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171260

SMART Domains

Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	52	309	4.7e-74	PFAM

Meta Mutation Damage Score

0.1101

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam71a	C	T	1: 191,163,351	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,911,839	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678	V163A	possibly damaging	Het

Other mutations in Tmem62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tmem62	APN	2	121006964	splice site	probably null
IGL01011:Tmem62	APN	2	120979219	missense	possibly damaging	0.48
IGL02125:Tmem62	APN	2	120996512	missense	probably benign	0.01
IGL02430:Tmem62	APN	2	120986662	missense	probably damaging	1.00
R0031:Tmem62	UTSW	2	120999113	missense	probably benign	0.00
R0535:Tmem62	UTSW	2	121002596	missense	possibly damaging	0.88
R1597:Tmem62	UTSW	2	120984362	missense	probably benign	0.01
R1656:Tmem62	UTSW	2	121007002	missense	probably benign	0.36
R1682:Tmem62	UTSW	2	121007057	missense	probably benign	0.32
R1702:Tmem62	UTSW	2	120979227	missense	probably damaging	1.00
R1755:Tmem62	UTSW	2	120984477	critical splice donor site	probably null
R1886:Tmem62	UTSW	2	120986670	missense	probably damaging	0.99
R1943:Tmem62	UTSW	2	120986626	missense	probably benign	0.10
R2151:Tmem62	UTSW	2	120986862	missense	probably damaging	1.00
R2419:Tmem62	UTSW	2	121007105	missense	probably damaging	0.98
R3034:Tmem62	UTSW	2	120979124	splice site	probably benign
R3782:Tmem62	UTSW	2	120977467	missense	probably damaging	1.00
R4326:Tmem62	UTSW	2	120980510	missense	probably damaging	1.00
R4328:Tmem62	UTSW	2	120980510	missense	probably damaging	1.00
R4620:Tmem62	UTSW	2	120996364	intron	probably benign
R5168:Tmem62	UTSW	2	120993607	missense	probably benign	0.16
R5625:Tmem62	UTSW	2	120990393	missense	probably damaging	1.00
R6057:Tmem62	UTSW	2	120977462	missense	probably damaging	0.98
R6386:Tmem62	UTSW	2	120999114	missense	probably benign	0.00
R7038:Tmem62	UTSW	2	120993577	missense	possibly damaging	0.87
R7569:Tmem62	UTSW	2	121006930	missense	probably benign
R7607:Tmem62	UTSW	2	120996440	missense	probably benign	0.00
R7849:Tmem62	UTSW	2	120984372	missense	probably benign	0.01
R8353:Tmem62	UTSW	2	120984336	missense	probably damaging	0.99
R8531:Tmem62	UTSW	2	121007052	missense	probably damaging	0.99
R8944:Tmem62	UTSW	2	120986835	critical splice acceptor site	probably null
X0052:Tmem62	UTSW	2	120993528	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTCTCTTGCTTATTCCCATAAAG -3'
(R):5'- ACCATGGGCTATTAGACACTGC -3'

Sequencing Primer
(F):5'- GGACAATCTGCAAGAGTCAGTTCTC -3'
(R):5'- CACTGCTGTGCAAGTAAGTAGG -3'

Posted On

2019-06-26