Mutagenetix > Incidental Mutations

Incidental Mutation 'R2396:Tmem87a'

248511

Institutional Source

Beutler Lab

Gene Symbol

Tmem87a

Ensembl Gene

ENSMUSG00000033808

Gene Name

transmembrane protein 87A

Synonyms

A930025J12Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R2396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120355312-120404113 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 120404059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000106357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090042] [ENSMUST00000090046] [ENSMUST00000110729] [ENSMUST00000135074]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000043755

Predicted Effect

probably null
Transcript: ENSMUST00000090042
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: M1K

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 null
Transcript: ENSMUST00000090046
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: M1K

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 null
Transcript: ENSMUST00000110729
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: M1K

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: ENSMUST00000131523

Predicted Effect

probably benign
Transcript: ENSMUST00000135074

SMART Domains

Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC
Pfam:Gal_mutarotas_2	221	292	2.3e-21	PFAM
Pfam:Glyco_hydro_31	333	778	2.5e-137	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154574

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	C	5: 9,435,395	L519P	possibly damaging	Het
Adamtsl1	G	A	4: 86,343,119	W1189*	probably null	Het
Col4a4	C	G	1: 82,507,072	M491I	unknown	Het
Col5a1	C	A	2: 27,986,729	D813E	unknown	Het
Cyp4b1	T	C	4: 115,641,646	Y113C	probably benign	Het
Dmac1	A	G	4: 75,278,221	F11L	unknown	Het
Dnah9	G	T	11: 66,085,158	T1355K	probably benign	Het
Efemp1	G	A	11: 28,867,941	R140Q	possibly damaging	Het
Fndc3a	T	C	14: 72,683,683	D17G	possibly damaging	Het
Grm8	C	T	6: 27,761,242	A328T	probably damaging	Het
Lepr	C	A	4: 101,733,528	A101E	probably benign	Het
Ncapg	A	G	5: 45,678,373	N382S	probably benign	Het
Olfr1026	T	C	2: 85,923,925	I219T	probably benign	Het
Olfr1349	C	A	7: 6,514,785	V215F	probably damaging	Het
Pacs2	G	A	12: 113,063,367	D605N	probably damaging	Het
Pigb	T	A	9: 73,015,271	R11*	probably null	Het
Prl8a1	C	A	13: 27,574,024	R234L	probably benign	Het
Spred3	T	C	7: 29,166,634	H80R	probably damaging	Het
Sptlc3	T	C	2: 139,566,586	I207T	probably benign	Het
Tll1	C	A	8: 64,070,290	G463*	probably null	Het
Tm4sf4	T	G	3: 57,437,760	C196G	unknown	Het
Tmem92	A	G	11: 94,782,407	L10P	probably damaging	Het
Trdn	A	T	10: 33,195,982	E215V	probably damaging	Het
Trpm2	A	T	10: 77,930,637	D849E	probably benign	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
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'- AAATCTTCCTGGACCCCTTGG -3'
(R):5'- CAGTAGACTCAAAGTTTCTGGGG -3'

Sequencing Primer
(F):5'- ACCCCCTTCAGGCTCAGTAG -3'
(R):5'- CTCAAAGTTTCTGGGGCGCTC -3'

Posted On

2014-11-11