Mutagenetix > Incidental Mutation

Incidental Mutation 'R1520:Tmem87b'

167346

Institutional Source

Beutler Lab

Gene Symbol

Tmem87b

Ensembl Gene

ENSMUSG00000014353

Gene Name

transmembrane protein 87B

Synonyms

2810431I02Rik, 2610301K12Rik

MMRRC Submission

039564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128660038-128696181 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 128681176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110325] [ENSMUST00000152210]

AlphaFold

Q8BKU8

Predicted Effect

probably benign
Transcript: ENSMUST00000110325

SMART Domains

Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:Lung_7-TM_R	174	459	3.7e-103	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143398

Predicted Effect

probably null
Transcript: ENSMUST00000152210

SMART Domains

Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Lung_7-TM_R	159	452	1.6e-97	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000136169
Gene: ENSMUSG00000014353

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:Lung_7-TM_R	174	467	1.4e-97	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,844,664 (GRCm39)	N1491S	possibly damaging	Het
Abcb1b	G	A	5: 8,864,768 (GRCm39)	A249T	probably damaging	Het
Acacb	A	G	5: 114,340,001 (GRCm39)	D804G	possibly damaging	Het
Agpat3	A	T	10: 78,123,857 (GRCm39)	M1K	probably null	Het
Akr1c12	A	C	13: 4,326,298 (GRCm39)	I61R	probably damaging	Het
Antxr2	G	A	5: 98,108,551 (GRCm39)	A320V	probably benign	Het
Aoc1l2	T	A	6: 48,908,231 (GRCm39)	Y410*	probably null	Het
Arhgef1	A	G	7: 24,619,129 (GRCm39)	R454G	probably damaging	Het
C1ql4	T	C	15: 98,985,548 (GRCm39)	H21R	probably benign	Het
Celsr3	T	C	9: 108,725,857 (GRCm39)	S3029P	probably damaging	Het
Chaf1a	T	C	17: 56,354,302 (GRCm39)	C191R	unknown	Het
Corin	A	C	5: 72,488,238 (GRCm39)	C627G	probably damaging	Het
Cyp3a11	T	C	5: 145,799,263 (GRCm39)	Y308C	probably damaging	Het
Cyp4a32	A	G	4: 115,471,849 (GRCm39)	N420S	probably damaging	Het
Eftud2	A	G	11: 102,730,266 (GRCm39)	S889P	probably damaging	Het
Eng	A	G	2: 32,562,953 (GRCm39)	H267R	probably benign	Het
Ep400	A	G	5: 110,839,644 (GRCm39)		probably benign	Het
Fmo9	G	T	1: 166,495,024 (GRCm39)	H292Q	probably benign	Het
Frmpd4	T	C	X: 166,275,949 (GRCm39)	S373G	probably damaging	Het
Fsip2	T	A	2: 82,811,058 (GRCm39)	I2459K	possibly damaging	Het
Gbp5	A	T	3: 142,213,775 (GRCm39)	H523L	probably damaging	Het
Gpr65	T	C	12: 98,241,434 (GRCm39)	V29A	probably benign	Het
Igkv7-33	T	A	6: 70,036,132 (GRCm39)		probably benign	Het
Iqcc	G	A	4: 129,510,762 (GRCm39)	T251I	possibly damaging	Het
Jund	A	G	8: 71,151,923 (GRCm39)	T73A	probably benign	Het
Kif14	A	G	1: 136,431,062 (GRCm39)	D1153G	probably benign	Het
Mcm8	T	C	2: 132,681,375 (GRCm39)	V617A	probably benign	Het
Mdga1	A	G	17: 30,065,493 (GRCm39)	F646L	probably benign	Het
Morc3	A	G	16: 93,641,129 (GRCm39)	K54E	probably damaging	Het
Mutyh	T	C	4: 116,674,749 (GRCm39)	L357P	probably damaging	Het
Mylk4	T	C	13: 32,896,821 (GRCm39)		probably null	Het
Or4k41	G	A	2: 111,279,619 (GRCm39)	V45I	probably benign	Het
Osbpl3	T	A	6: 50,323,411 (GRCm39)	D224V	possibly damaging	Het
Parp4	T	C	14: 56,835,863 (GRCm39)	I469T	probably damaging	Het
Pkd1l2	A	G	8: 117,772,898 (GRCm39)	V1043A	probably benign	Het
Plod3	A	G	5: 137,020,165 (GRCm39)	N460S	probably damaging	Het
Preb	A	G	5: 31,115,868 (GRCm39)	F192L	probably benign	Het
Prkra	T	C	2: 76,469,622 (GRCm39)	T146A	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rag2	T	C	2: 101,460,476 (GRCm39)	I262T	probably damaging	Het
Rgr	A	G	14: 36,766,672 (GRCm39)	W125R	probably damaging	Het
Rit1	T	A	3: 88,636,620 (GRCm39)	F211I	probably benign	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Serinc2	C	T	4: 130,154,543 (GRCm39)	V234I	probably benign	Het
Srp54b	T	C	12: 55,304,354 (GRCm39)	M434T	possibly damaging	Het
Srrt	C	A	5: 137,297,028 (GRCm39)	R69L	probably damaging	Het
Sv2b	A	G	7: 74,807,077 (GRCm39)	L191P	probably damaging	Het
Tcf12	C	A	9: 71,790,388 (GRCm39)		probably null	Het
Tmem273	A	T	14: 32,527,083 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,647,392 (GRCm39)	E11031G	possibly damaging	Het
Uaca	A	T	9: 60,778,663 (GRCm39)	T1017S	probably benign	Het
Urb1	C	A	16: 90,571,633 (GRCm39)	V1059L	probably benign	Het
V1rd19	G	A	7: 23,702,623 (GRCm39)	A30T	probably damaging	Het
Vldlr	C	T	19: 27,217,943 (GRCm39)	L91F	probably damaging	Het
Vldlr	G	T	19: 27,224,466 (GRCm39)	A770S	possibly damaging	Het
Vmn2r80	A	G	10: 79,030,594 (GRCm39)	T807A	probably damaging	Het
Wwox	C	T	8: 115,438,873 (GRCm39)	P313L	probably benign	Het
Zap70	T	C	1: 36,810,036 (GRCm39)	S49P	probably damaging	Het
Zfp317	A	G	9: 19,559,144 (GRCm39)	I453V	possibly damaging	Het

Other mutations in Tmem87b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Tmem87b	APN	2	128,673,136 (GRCm39)	missense	probably damaging	1.00
IGL02224:Tmem87b	APN	2	128,676,127 (GRCm39)	missense	possibly damaging	0.91
IGL03387:Tmem87b	APN	2	128,665,019 (GRCm39)	missense	probably benign	0.08
PIT4445001:Tmem87b	UTSW	2	128,673,391 (GRCm39)	missense	probably benign	0.02
R0054:Tmem87b	UTSW	2	128,673,361 (GRCm39)	critical splice acceptor site	probably benign
R0054:Tmem87b	UTSW	2	128,673,361 (GRCm39)	critical splice acceptor site	probably benign
R0363:Tmem87b	UTSW	2	128,673,153 (GRCm39)	missense	probably damaging	1.00
R0750:Tmem87b	UTSW	2	128,660,356 (GRCm39)	missense	possibly damaging	0.92
R1496:Tmem87b	UTSW	2	128,668,313 (GRCm39)	splice site	probably null
R1766:Tmem87b	UTSW	2	128,681,090 (GRCm39)	missense	probably damaging	0.96
R1908:Tmem87b	UTSW	2	128,673,479 (GRCm39)	missense	probably damaging	1.00
R2041:Tmem87b	UTSW	2	128,673,509 (GRCm39)	missense	probably damaging	1.00
R3840:Tmem87b	UTSW	2	128,668,304 (GRCm39)	nonsense	probably null
R4426:Tmem87b	UTSW	2	128,688,670 (GRCm39)	missense	probably benign	0.00
R5105:Tmem87b	UTSW	2	128,673,509 (GRCm39)	missense	probably damaging	1.00
R5159:Tmem87b	UTSW	2	128,666,378 (GRCm39)	missense	probably benign	0.00
R5471:Tmem87b	UTSW	2	128,693,240 (GRCm39)	missense	possibly damaging	0.58
R6550:Tmem87b	UTSW	2	128,666,385 (GRCm39)	missense	possibly damaging	0.79
R7467:Tmem87b	UTSW	2	128,691,071 (GRCm39)	splice site	probably null
R7664:Tmem87b	UTSW	2	128,690,974 (GRCm39)	missense	possibly damaging	0.89
R7696:Tmem87b	UTSW	2	128,683,237 (GRCm39)	missense	probably damaging	0.96
R7971:Tmem87b	UTSW	2	128,692,250 (GRCm39)	missense	probably null	1.00
R9110:Tmem87b	UTSW	2	128,684,615 (GRCm39)	nonsense	probably null
R9150:Tmem87b	UTSW	2	128,687,401 (GRCm39)	missense	probably damaging	0.98
R9162:Tmem87b	UTSW	2	128,681,150 (GRCm39)	missense	probably benign
R9495:Tmem87b	UTSW	2	128,660,353 (GRCm39)	missense	probably damaging	0.97
R9586:Tmem87b	UTSW	2	128,660,260 (GRCm39)	start codon destroyed	probably null	0.77

Predicted Primers

PCR Primer
(F):5'- CACTCTAAGATCCTTTTGAGTGTCCCAC -3'
(R):5'- TTGTCTCTTTATCAGGTGTGAACTCTGC -3'

Sequencing Primer
(F):5'- accaagaataccagaggggag -3'
(R):5'- AGAGACAGTACTCTTTTTGTGCC -3'

Posted On

2014-04-13