Mutagenetix > Incidental Mutations

Incidental Mutation 'R2496:Tmem87a'

251153

Institutional Source

Beutler Lab

Gene Symbol

Tmem87a

Ensembl Gene

ENSMUSG00000033808

Gene Name

transmembrane protein 87A

Synonyms

A930025J12Rik

MMRRC Submission

040410-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R2496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120355312-120404113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120394378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 134 (E134G)

Ref Sequence

ENSEMBL: ENSMUSP00000087496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090042] [ENSMUST00000090046] [ENSMUST00000110729]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090042
AA Change: E134G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: E134G

Domain	Start	End	E-Value	Type
Pfam:Lung_7-TM_R	184	471	1.1e-87	PFAM
low complexity region	480	486	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090046
AA Change: E134G

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: E134G

Domain	Start	End	E-Value	Type
Pfam:Lung_7-TM_R	185	472	1.5e-85	PFAM
low complexity region	481	487	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110729
AA Change: E134G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: E134G

Domain	Start	End	E-Value	Type
Pfam:Lung_7-TM_R	184	472	2.4e-86	PFAM
low complexity region	481	487	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151740

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,256,491	V391A	possibly damaging	Het
Acan	T	C	7: 79,111,317	W1926R	probably damaging	Het
AI464131	A	G	4: 41,499,165	V155A	probably benign	Het
Arhgef25	T	C	10: 127,187,194	T106A	probably benign	Het
Baz1b	G	A	5: 135,210,775	R243Q	probably damaging	Het
Cdhr3	A	G	12: 33,049,069	Y508H	probably benign	Het
Cyp2d9	T	A	15: 82,452,479	W10R	probably damaging	Het
Dmxl1	A	G	18: 49,880,791	T1549A	possibly damaging	Het
Dnah8	A	T	17: 30,851,731	R4464W	probably damaging	Het
Dpp4	G	A	2: 62,387,133	T40M	possibly damaging	Het
Dync1h1	A	G	12: 110,641,220	H2723R	possibly damaging	Het
E2f3	C	T	13: 29,911,306	S333N	probably damaging	Het
Fam120a	G	T	13: 48,967,593	A79E	probably damaging	Het
Fat3	A	G	9: 15,966,103	S3405P	probably benign	Het
Gaa	T	C	11: 119,283,705	S793P	possibly damaging	Het
Galc	A	C	12: 98,227,281	F350V	probably damaging	Het
Gm136	A	G	4: 34,746,541	C157R	probably damaging	Het
Gm3327	A	C	14: 44,126,263	N108T	unknown	Het
H2-M10.2	A	G	17: 36,285,879	Y102H	possibly damaging	Het
Hmcn1	A	T	1: 150,615,221	D4192E	probably benign	Het
Hpse2	A	C	19: 43,013,043		probably null	Het
Idh3a	T	C	9: 54,603,349	V362A	probably benign	Het
Kdm7a	A	T	6: 39,170,763		probably null	Het
Krt6b	A	G	15: 101,679,781	V148A	probably damaging	Het
Lrba	G	A	3: 86,532,087	R1977H	probably damaging	Het
Magi2	A	T	5: 19,678,752	Y134F	probably benign	Het
Mamdc4	T	C	2: 25,565,902	Y801C	probably damaging	Het
Maml1	T	C	11: 50,258,544	T790A	probably benign	Het
Map3k19	A	G	1: 127,823,086	Y843H	probably damaging	Het
Mdfic	A	T	6: 15,741,042	H45L	possibly damaging	Het
Mlx	C	T	11: 101,088,254	T87I	probably benign	Het
Mms22l	T	A	4: 24,521,269	I382K	probably benign	Het
Mtf1	A	G	4: 124,838,904	N585S	probably benign	Het
Mylk2	C	T	2: 152,913,668	P251S	probably damaging	Het
Nox4	A	T	7: 87,306,750	T157S	probably benign	Het
Oas2	A	T	5: 120,748,617	H161Q	probably benign	Het
Obscn	A	T	11: 59,103,442	V1563E	probably damaging	Het
Olfr133	T	C	17: 38,149,431	V281A	possibly damaging	Het
Olfr543	T	C	7: 102,477,147	K241R	probably damaging	Het
Olfr772	A	C	10: 129,174,097	F308C	probably benign	Het
Pcdhb11	T	A	18: 37,422,322	I235N	probably benign	Het
Pcsk5	A	T	19: 17,466,158	C1212*	probably null	Het
Ptges	C	T	2: 30,892,710	G110D	possibly damaging	Het
Rsph4a	A	T	10: 33,908,098	I239L	possibly damaging	Het
Setx	A	G	2: 29,144,801	I433V	probably benign	Het
Smyd4	T	C	11: 75,391,101	S467P	probably benign	Het
Snai2	A	T	16: 14,706,002	H10L	possibly damaging	Het
Snw1	T	C	12: 87,450,819	I467V	probably benign	Het
Stab1	A	T	14: 31,161,463	C301S	probably damaging	Het
Tax1bp1	T	A	6: 52,758,357		probably null	Het
Tmem70	C	A	1: 16,665,351	P15Q	probably benign	Het
Ubr4	C	T	4: 139,473,205		probably benign	Het
Ugt2b37	C	T	5: 87,254,710	V21M	probably damaging	Het
Ugt2b38	T	A	5: 87,421,692	I259F	probably damaging	Het
Zfp804a	T	A	2: 82,235,844	L53Q	probably damaging	Het

Other mutations in Tmem87a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Tmem87a	APN	2	120379780	splice site	probably benign
IGL00912:Tmem87a	APN	2	120403936	missense	possibly damaging	0.54
IGL01301:Tmem87a	APN	2	120380769	missense	probably benign	0.01
IGL01413:Tmem87a	APN	2	120385870	missense	probably benign	0.06
IGL01418:Tmem87a	APN	2	120385870	missense	probably benign	0.06
IGL02083:Tmem87a	APN	2	120397380	missense	probably damaging	1.00
IGL02150:Tmem87a	APN	2	120360076	missense	probably damaging	0.99
IGL02256:Tmem87a	APN	2	120377896	missense	probably damaging	1.00
IGL02314:Tmem87a	APN	2	120404021	missense	possibly damaging	0.57
IGL02501:Tmem87a	APN	2	120404053	missense	probably damaging	0.98
IGL02550:Tmem87a	APN	2	120374485	splice site	probably null
IGL03082:Tmem87a	APN	2	120397366	missense	possibly damaging	0.81
ANU18:Tmem87a	UTSW	2	120380769	missense	probably benign	0.01
R0254:Tmem87a	UTSW	2	120375507	missense	probably damaging	1.00
R0285:Tmem87a	UTSW	2	120394424	missense	probably benign	0.01
R0498:Tmem87a	UTSW	2	120394465	missense	probably benign	0.01
R0611:Tmem87a	UTSW	2	120375448	missense	possibly damaging	0.46
R0632:Tmem87a	UTSW	2	120359542	missense	probably damaging	1.00
R0787:Tmem87a	UTSW	2	120370484	missense	probably benign	0.22
R1599:Tmem87a	UTSW	2	120394387	missense	probably damaging	1.00
R1977:Tmem87a	UTSW	2	120374504	missense	probably benign	0.02
R2059:Tmem87a	UTSW	2	120369292	missense	probably damaging	1.00
R2396:Tmem87a	UTSW	2	120404059	start codon destroyed	probably null	0.02
R4478:Tmem87a	UTSW	2	120369343	nonsense	probably null
R4621:Tmem87a	UTSW	2	120397424	missense	probably benign	0.00
R4739:Tmem87a	UTSW	2	120360037	critical splice donor site	probably null
R5138:Tmem87a	UTSW	2	120371545	missense	possibly damaging	0.88
R5314:Tmem87a	UTSW	2	120377926	missense	probably damaging	0.99
R5391:Tmem87a	UTSW	2	120362877	critical splice donor site	probably null
R5536:Tmem87a	UTSW	2	120397430	missense	probably damaging	0.96
R5618:Tmem87a	UTSW	2	120369306	missense	probably benign	0.44
R5642:Tmem87a	UTSW	2	120403946	missense	probably benign	0.00
R5884:Tmem87a	UTSW	2	120404124	unclassified	probably benign
R6104:Tmem87a	UTSW	2	120394424	missense	probably benign	0.01
R6158:Tmem87a	UTSW	2	120360103	splice site	probably null
R6195:Tmem87a	UTSW	2	120392175	splice site	probably null
R6233:Tmem87a	UTSW	2	120392175	splice site	probably null
R6261:Tmem87a	UTSW	2	120404021	missense	possibly damaging	0.57
R6403:Tmem87a	UTSW	2	120380771	missense	possibly damaging	0.94
R6405:Tmem87a	UTSW	2	120379750	missense	probably damaging	1.00
R6540:Tmem87a	UTSW	2	120403919	missense	probably benign	0.00
R6583:Tmem87a	UTSW	2	120375477	missense	possibly damaging	0.93
R6995:Tmem87a	UTSW	2	120362928	missense	possibly damaging	0.91
R7081:Tmem87a	UTSW	2	120380783	missense	possibly damaging	0.88
R7384:Tmem87a	UTSW	2	120371523	critical splice donor site	probably null
R7558:Tmem87a	UTSW	2	120374510	missense	probably benign	0.00
R7904:Tmem87a	UTSW	2	120379717	missense	probably damaging	1.00
R8124:Tmem87a	UTSW	2	120392195	missense	probably benign
R8165:Tmem87a	UTSW	2	120370478	missense	possibly damaging	0.95
R8259:Tmem87a	UTSW	2	120397447	missense	possibly damaging	0.65
R8315:Tmem87a	UTSW	2	120403960	missense	probably damaging	0.99
R8971:Tmem87a	UTSW	2	120360060	missense
R9124:Tmem87a	UTSW	2	120394360	critical splice donor site	probably null
R9157:Tmem87a	UTSW	2	120379612	missense	possibly damaging	0.66
R9188:Tmem87a	UTSW	2	120402763	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTTATAAGAATCTGCTATAGCACCG -3'
(R):5'- TGTGAGCAAAGACGATAATTCTGTGG -3'

Sequencing Primer
(F):5'- GAGGAAAGAAAGTGCAGCTTCCTTC -3'
(R):5'- TGCACTAGGATTGCAAGGACTCC -3'

Posted On

2014-12-04