Mutagenetix > Incidental Mutations

Incidental Mutation 'R6261:Tmem87a'

506677

Institutional Source

Beutler Lab

Gene Symbol

Tmem87a

Ensembl Gene

ENSMUSG00000033808

Gene Name

transmembrane protein 87A

Synonyms

A930025J12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R6261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120355312-120404113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120404021 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000087500 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000043755

Predicted Effect

probably benign
Transcript: ENSMUST00000090042
AA Change: S14P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: S14P

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

possibly damaging
Transcript: ENSMUST00000090046
AA Change: S14P

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: S14P

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: S14P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: S14P

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: ENSMUST00000152437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151740

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	T	C	2: 164,795,059	D257G	probably damaging	Het
Adamtsl1	T	C	4: 86,336,878	V736A	probably benign	Het
Anln	A	G	9: 22,364,046	L521S	probably damaging	Het
Arfgap2	T	G	2: 91,270,282	S311A	probably benign	Het
Brdt	A	T	5: 107,348,503	E160D	probably benign	Het
Ccdc187	A	G	2: 26,276,203	I738T	probably damaging	Het
Cd59a	G	C	2: 104,104,205	G6A	probably damaging	Het
Cd5l	C	T	3: 87,368,608	P295L	probably benign	Het
Cnot1	A	G	8: 95,741,921	S1432P	probably benign	Het
Cnot8	T	A	11: 58,114,051	I192N	probably damaging	Het
Col4a1	G	T	8: 11,207,409		probably null	Het
Cuta	A	G	17: 26,939,327	L11P	possibly damaging	Het
Cyp2c39	G	A	19: 39,568,019	R433H	probably damaging	Het
Cyp4a12b	T	A	4: 115,414,543	Y150*	probably null	Het
Dcaf15	G	A	8: 84,099,105	A291V	probably benign	Het
Dcstamp	A	T	15: 39,754,735	H180L	possibly damaging	Het
Egfr	A	G	11: 16,889,964	I659M	probably benign	Het
Fzd8	A	G	18: 9,214,598	E560G	possibly damaging	Het
Gm28710	T	C	5: 16,812,185		noncoding transcript	Het
Gm5111	A	T	6: 48,589,592		probably benign	Het
Gm7945	T	C	14: 41,382,823	T214A	unknown	Het
Gpi1	T	C	7: 34,220,745	T168A	possibly damaging	Het
Gys2	T	C	6: 142,459,408	I218V	probably benign	Het
Gzmf	T	A	14: 56,206,492	I74L	probably benign	Het
Hacl1	G	A	14: 31,635,771	A70V	probably damaging	Het
Herc2	T	A	7: 56,197,072	L3590*	probably null	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Igfals	G	T	17: 24,881,365	V477F	possibly damaging	Het
Igkv8-28	A	T	6: 70,143,890	V23E	probably benign	Het
Isg20l2	T	A	3: 87,932,088	V202E	probably damaging	Het
Jakmip2	A	G	18: 43,575,534	I288T	probably benign	Het
Kansl3	A	G	1: 36,365,605	V88A	probably benign	Het
Kcna3	A	G	3: 107,037,950	T510A	possibly damaging	Het
Map2k5	G	T	9: 63,338,098	L140I	probably benign	Het
Map3k19	A	G	1: 127,822,599	I1005T	possibly damaging	Het
Mmp25	G	A	17: 23,630,794	A541V	possibly damaging	Het
Ms4a14	T	A	19: 11,304,020	E391D	probably benign	Het
Mtrf1l	A	G	10: 5,815,550		probably null	Het
Myom1	A	G	17: 71,126,137	N1591S	probably damaging	Het
Nos1	G	A	5: 117,936,570	V1060M	probably benign	Het
Nsun5	C	T	5: 135,371,531	T142M	probably damaging	Het
Odc1	A	G	12: 17,550,654	E430G	probably benign	Het
Olfr957	C	A	9: 39,510,809	V304F	probably benign	Het
P2ry12	T	C	3: 59,217,907	I116V	probably null	Het
Patl1	T	A	19: 11,920,331	V94E	probably damaging	Het
Plin3	A	T	17: 56,281,488	Y255*	probably null	Het
Pou6f1	T	C	15: 100,579,946	T439A	probably damaging	Het
Prdm13	T	C	4: 21,678,366	K708R	probably damaging	Het
Prr14l	A	G	5: 32,829,404	S916P	possibly damaging	Het
Rab34	T	A	11: 78,191,202		probably null	Het
Rps7	A	G	12: 28,635,594	S21P	possibly damaging	Het
Scn9a	A	T	2: 66,483,896	L1815Q	probably damaging	Het
Sesn3	A	G	9: 14,321,163	Y244C	probably benign	Het
Slc15a2	A	G	16: 36,761,611	F284L	probably benign	Het
Slc25a44	C	T	3: 88,420,911	G72D	probably damaging	Het
Slco6d1	A	G	1: 98,499,863	T640A	probably benign	Het
Sspo	A	T	6: 48,462,191	E1591V	possibly damaging	Het
Tbata	C	A	10: 61,175,865	T60K	possibly damaging	Het
Tbc1d2	T	A	4: 46,637,692	T185S	possibly damaging	Het
Tmem56	T	A	3: 121,235,059	I60F	possibly damaging	Het
Tnnt2	C	A	1: 135,850,554		probably null	Het
Trex1	A	G	9: 109,058,641	V94A	probably benign	Het
Ubtfl1	A	C	9: 18,409,296	D40A	possibly damaging	Het
Zc3hav1	A	T	6: 38,333,000	Y296N	probably benign	Het
Zfp521	T	A	18: 13,844,627	N910Y	probably damaging	Het
Zfp53	A	G	17: 21,508,713	E336G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AAATCTTCCTGGACCCCTTGG -3'
(R):5'- GTAGACTCAAAGTTTCTGGGGCG -3'

Sequencing Primer
(F):5'- CCTTGGGCCACCGTAGC -3'
(R):5'- CTCTGAGCGTCTGTGGGAAGAAG -3'

Posted On

2018-03-15