Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Tmem87a'

346125

Institutional Source

Beutler Lab

Gene Symbol

Tmem87a

Ensembl Gene

ENSMUSG00000033808

Gene Name

transmembrane protein 87A

Synonyms

A930025J12Rik

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120185793-120234594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120227905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 81 (S81P)

Ref Sequence

ENSEMBL: ENSMUSP00000106357 (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: S81P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: S81P

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: S81P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: S81P

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: S81P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: S81P

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

0.1313

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,672,494 (GRCm39)	V107M	probably damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gltp	C	T	5: 114,812,188 (GRCm39)	R106Q	probably damaging	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,274,655 (GRCm39)		probably benign	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,631,345 (GRCm39)	V244A	probably damaging	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Satb2	A	T	1: 56,884,778 (GRCm39)	V382E	probably damaging	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,637,274 (GRCm39)	D14G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	possibly damaging	Het

Other mutations in Tmem87a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Tmem87a	APN	2	120,210,261 (GRCm39)	splice site	probably benign
IGL00912:Tmem87a	APN	2	120,234,417 (GRCm39)	missense	possibly damaging	0.54
IGL01301:Tmem87a	APN	2	120,211,250 (GRCm39)	missense	probably benign	0.01
IGL01413:Tmem87a	APN	2	120,216,351 (GRCm39)	missense	probably benign	0.06
IGL01418:Tmem87a	APN	2	120,216,351 (GRCm39)	missense	probably benign	0.06
IGL02083:Tmem87a	APN	2	120,227,861 (GRCm39)	missense	probably damaging	1.00
IGL02150:Tmem87a	APN	2	120,190,557 (GRCm39)	missense	probably damaging	0.99
IGL02256:Tmem87a	APN	2	120,208,377 (GRCm39)	missense	probably damaging	1.00
IGL02314:Tmem87a	APN	2	120,234,502 (GRCm39)	missense	possibly damaging	0.57
IGL02501:Tmem87a	APN	2	120,234,534 (GRCm39)	missense	probably damaging	0.98
IGL02550:Tmem87a	APN	2	120,204,966 (GRCm39)	splice site	probably null
IGL03082:Tmem87a	APN	2	120,227,847 (GRCm39)	missense	possibly damaging	0.81
Fugal	UTSW	2	120,190,518 (GRCm39)	critical splice donor site	probably null
Ingenuity	UTSW	2	120,224,841 (GRCm39)	critical splice donor site	probably null
ANU18:Tmem87a	UTSW	2	120,211,250 (GRCm39)	missense	probably benign	0.01
R0254:Tmem87a	UTSW	2	120,205,988 (GRCm39)	missense	probably damaging	1.00
R0285:Tmem87a	UTSW	2	120,224,905 (GRCm39)	missense	probably benign	0.01
R0498:Tmem87a	UTSW	2	120,224,946 (GRCm39)	missense	probably benign	0.01
R0611:Tmem87a	UTSW	2	120,205,929 (GRCm39)	missense	possibly damaging	0.46
R0632:Tmem87a	UTSW	2	120,190,023 (GRCm39)	missense	probably damaging	1.00
R0787:Tmem87a	UTSW	2	120,200,965 (GRCm39)	missense	probably benign	0.22
R1599:Tmem87a	UTSW	2	120,224,868 (GRCm39)	missense	probably damaging	1.00
R1977:Tmem87a	UTSW	2	120,204,985 (GRCm39)	missense	probably benign	0.02
R2059:Tmem87a	UTSW	2	120,199,773 (GRCm39)	missense	probably damaging	1.00
R2396:Tmem87a	UTSW	2	120,234,540 (GRCm39)	start codon destroyed	probably null	0.02
R2496:Tmem87a	UTSW	2	120,224,859 (GRCm39)	missense	probably damaging	0.96
R4478:Tmem87a	UTSW	2	120,199,824 (GRCm39)	nonsense	probably null
R4739:Tmem87a	UTSW	2	120,190,518 (GRCm39)	critical splice donor site	probably null
R5138:Tmem87a	UTSW	2	120,202,026 (GRCm39)	missense	possibly damaging	0.88
R5314:Tmem87a	UTSW	2	120,208,407 (GRCm39)	missense	probably damaging	0.99
R5391:Tmem87a	UTSW	2	120,193,358 (GRCm39)	critical splice donor site	probably null
R5536:Tmem87a	UTSW	2	120,227,911 (GRCm39)	missense	probably damaging	0.96
R5618:Tmem87a	UTSW	2	120,199,787 (GRCm39)	missense	probably benign	0.44
R5642:Tmem87a	UTSW	2	120,234,427 (GRCm39)	missense	probably benign	0.00
R5884:Tmem87a	UTSW	2	120,234,605 (GRCm39)	unclassified	probably benign
R6104:Tmem87a	UTSW	2	120,224,905 (GRCm39)	missense	probably benign	0.01
R6158:Tmem87a	UTSW	2	120,190,584 (GRCm39)	splice site	probably null
R6195:Tmem87a	UTSW	2	120,222,656 (GRCm39)	splice site	probably null
R6233:Tmem87a	UTSW	2	120,222,656 (GRCm39)	splice site	probably null
R6261:Tmem87a	UTSW	2	120,234,502 (GRCm39)	missense	possibly damaging	0.57
R6403:Tmem87a	UTSW	2	120,211,252 (GRCm39)	missense	possibly damaging	0.94
R6405:Tmem87a	UTSW	2	120,210,231 (GRCm39)	missense	probably damaging	1.00
R6540:Tmem87a	UTSW	2	120,234,400 (GRCm39)	missense	probably benign	0.00
R6583:Tmem87a	UTSW	2	120,205,958 (GRCm39)	missense	possibly damaging	0.93
R6995:Tmem87a	UTSW	2	120,193,409 (GRCm39)	missense	possibly damaging	0.91
R7081:Tmem87a	UTSW	2	120,211,264 (GRCm39)	missense	possibly damaging	0.88
R7384:Tmem87a	UTSW	2	120,202,004 (GRCm39)	critical splice donor site	probably null
R7558:Tmem87a	UTSW	2	120,204,991 (GRCm39)	missense	probably benign	0.00
R7904:Tmem87a	UTSW	2	120,210,198 (GRCm39)	missense	probably damaging	1.00
R8124:Tmem87a	UTSW	2	120,222,676 (GRCm39)	missense	probably benign
R8165:Tmem87a	UTSW	2	120,200,959 (GRCm39)	missense	possibly damaging	0.95
R8259:Tmem87a	UTSW	2	120,227,928 (GRCm39)	missense	possibly damaging	0.65
R8315:Tmem87a	UTSW	2	120,234,441 (GRCm39)	missense	probably damaging	0.99
R8971:Tmem87a	UTSW	2	120,190,541 (GRCm39)	missense
R9124:Tmem87a	UTSW	2	120,224,841 (GRCm39)	critical splice donor site	probably null
R9157:Tmem87a	UTSW	2	120,210,093 (GRCm39)	missense	possibly damaging	0.66
R9188:Tmem87a	UTSW	2	120,233,244 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCTGAGAACTGCTGACACAAGC -3'
(R):5'- AGTTCTTTGTGTGACCCGAATTCC -3'

Sequencing Primer
(F):5'- CAGACTGAGACTCCTAGGCTATG -3'
(R):5'- TGTGTGACCCGAATTCCTTATG -3'

Posted On

2015-09-25