Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Tmem87a'

24646

Institutional Source

Beutler Lab

Gene Symbol

Tmem87a

Ensembl Gene

ENSMUSG00000033808

Gene Name

transmembrane protein 87A

Synonyms

A930025J12Rik

MMRRC Submission

038506-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120355312-120404113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120394424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

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 benign
Transcript: ENSMUST00000090042
AA Change: S119P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: S119P

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: S119P

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

SMART Domains

Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: S119P

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: S119P

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

SMART Domains

Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: S119P

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

Meta Mutation Damage Score

0.0682

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,533,865	G5S	probably damaging	Het
Acy3	A	G	19: 3,988,193	E162G	probably benign	Het
Angptl1	T	C	1: 156,845,215	S204P	probably benign	Het
Atf6b	C	T	17: 34,650,396		probably benign	Het
Card11	G	A	5: 140,887,101	S619F	probably damaging	Het
Ccl11	G	A	11: 82,062,258	V81I	probably damaging	Het
Cds1	T	C	5: 101,797,038	I126T	probably damaging	Het
Chd1	A	G	17: 17,374,680		probably benign	Het
Cndp1	C	A	18: 84,618,238	V384F	possibly damaging	Het
Cuta	A	G	17: 26,939,449		probably null	Het
Diaph3	G	A	14: 87,115,024	T47I	possibly damaging	Het
Dopey1	A	T	9: 86,512,639	S598C	probably damaging	Het
Dsp	A	G	13: 38,172,794	M217V	probably benign	Het
Esyt1	T	A	10: 128,512,218	I898F	possibly damaging	Het
Fam189a2	G	A	19: 23,979,385		probably benign	Het
Fam205a1	G	A	4: 42,850,236	T640M	probably benign	Het
Fam84b	T	C	15: 60,822,967	H310R	probably benign	Het
Fgd3	A	T	13: 49,263,948	W680R	possibly damaging	Het
Folh1	A	G	7: 86,742,165		probably benign	Het
Fuk	G	C	8: 110,893,717	H235Q	probably benign	Het
Gadl1	C	A	9: 116,030,738		probably benign	Het
Garem1	A	G	18: 21,129,612	M715T	probably benign	Het
Gpd2	A	T	2: 57,338,955	D257V	probably benign	Het
Hdac7	A	G	15: 97,798,222		probably null	Het
Heatr5b	A	G	17: 78,808,453	M858T	probably benign	Het
Inpp4b	A	T	8: 82,034,516		probably benign	Het
Iqgap3	G	T	3: 88,096,990	C461F	probably benign	Het
Lamb1	C	A	12: 31,326,645	C559*	probably null	Het
Lrrc31	T	C	3: 30,684,948	N308S	probably benign	Het
Ly75	T	C	2: 60,318,319	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,673,900	R42L	probably benign	Het
Meioc	A	G	11: 102,672,191	T72A	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,925,668	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,806,559	D650E	probably benign	Het
Ncoa6	T	C	2: 155,415,701	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nol4l	G	A	2: 153,483,853		probably benign	Het
Notch1	T	G	2: 26,460,861	D2089A	possibly damaging	Het
Olfr1156	A	G	2: 87,950,131	I34T	probably damaging	Het
Olfr1419	A	G	19: 11,871,138	L26P	probably damaging	Het
Olfr1449	A	T	19: 12,935,172	M145L	probably benign	Het
Olfr155	G	A	4: 43,854,398	V30M	possibly damaging	Het
Olfr493	A	G	7: 108,346,499	S161P	probably benign	Het
Olfr649	A	T	7: 104,189,324	Y294*	probably null	Het
Olfr930	T	A	9: 38,930,774	I201N	possibly damaging	Het
Otof	C	T	5: 30,379,533		probably null	Het
Paox	T	C	7: 140,129,140	F324L	probably damaging	Het
Pycr1	A	T	11: 120,640,316	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,576,129	H627L	probably damaging	Het
Rab21	G	A	10: 115,290,863	S193L	probably benign	Het
Ralgds	T	G	2: 28,550,569		probably null	Het
Rbm42	A	G	7: 30,645,840	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,110,378	V262A	probably benign	Het
Rhobtb3	A	G	13: 75,877,509	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,601,389	A901T	probably damaging	Het
Ryr2	T	C	13: 11,716,977	D2359G	probably damaging	Het
Sgo2b	A	C	8: 63,928,789	Y336*	probably null	Het
Slc16a7	T	A	10: 125,294,631	I62L	probably benign	Het
Slc22a21	A	T	11: 53,959,196		probably benign	Het
Slc25a21	A	G	12: 56,858,025		probably null	Het
Slc5a4b	T	C	10: 76,062,283	I532M	probably damaging	Het
Srrm4	C	A	5: 116,467,789		probably benign	Het
Stxbp1	C	A	2: 32,823,542	E27D	probably benign	Het
Sult2a5	T	A	7: 13,628,760	Y131N	probably damaging	Het
Svopl	T	C	6: 37,984,522	Q492R	probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmprss11c	A	G	5: 86,271,430	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,452,868	D346V	probably damaging	Het
Ubr4	A	C	4: 139,440,801	S2820R	probably damaging	Het
Usp4	T	C	9: 108,378,564	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603		probably null	Het
Vill	C	T	9: 119,070,827		probably benign	Het
Vmn1r13	C	A	6: 57,209,994	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,345,611	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,396,557	W797R	probably damaging	Het
Washc2	T	A	6: 116,221,839	D287E	probably damaging	Het
Xpc	G	A	6: 91,498,064	L660F	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
Fugal	UTSW	2	120360037	critical splice donor site	probably null
Ingenuity	UTSW	2	120394360	critical splice donor site	probably null
ANU18:Tmem87a	UTSW	2	120380769	missense	probably benign	0.01
R0254:Tmem87a	UTSW	2	120375507	missense	probably damaging	1.00
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
R2496:Tmem87a	UTSW	2	120394378	missense	probably damaging	0.96
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'- GAGGAAAGAAAGTGCAGCTTCCTTCA -3'
(R):5'- TGTGAGCAAAGACGATAATTCTGTGGT -3'

Sequencing Primer
(F):5'- GCAGCTTCCTTCATAGTATTGAG -3'
(R):5'- gactcctctccgcaccc -3'

Posted On

2013-04-16