Mutagenetix > Incidental Mutation

Incidental Mutation 'R9110:Tmem87b'

692181

Institutional Source

Beutler Lab

Gene Symbol

Tmem87b

Ensembl Gene

ENSMUSG00000014353

Gene Name

transmembrane protein 87B

Synonyms

2810431I02Rik, 2610301K12Rik

MMRRC Submission

068919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128660038-128696181 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 128684615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 459 (Q459*)

Ref Sequence

ENSEMBL: ENSMUSP00000105954 (fasta)

Gene Model

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

AlphaFold

Q8BKU8

Predicted Effect

probably null
Transcript: ENSMUST00000110325
AA Change: Q459*

SMART Domains

Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: Q459*

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

probably null
Transcript: ENSMUST00000152210
AA Change: Q452*

SMART Domains

Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: Q452*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,831,615 (GRCm39)		probably benign	Het
Adam20	A	G	8: 41,248,907 (GRCm39)	D339G	probably benign	Het
Adam3	T	A	8: 25,193,821 (GRCm39)	Y397F	probably benign	Het
Ago3	C	T	4: 126,248,829 (GRCm39)	G574E	probably damaging	Het
Angptl4	T	A	17: 33,999,800 (GRCm39)	Y133F	probably benign	Het
Ankrd61	T	C	5: 143,831,759 (GRCm39)	D15G	possibly damaging	Het
Arfgap1	T	A	2: 180,615,330 (GRCm39)	S174T	possibly damaging	Het
Arhgap12	T	C	18: 6,034,539 (GRCm39)	D549G	possibly damaging	Het
Arhgap25	T	C	6: 87,453,254 (GRCm39)	E182G	probably benign	Het
Astn1	T	G	1: 158,496,327 (GRCm39)	I1127S	probably benign	Het
Bivm	T	C	1: 44,168,526 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,945,258 (GRCm39)	S952T	possibly damaging	Het
Cfap44	T	A	16: 44,255,923 (GRCm39)	L1005Q	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cog1	T	C	11: 113,544,807 (GRCm39)	F330L	possibly damaging	Het
Dnah2	T	G	11: 69,435,208 (GRCm39)	D54A	probably benign	Het
Dntt	A	T	19: 41,044,197 (GRCm39)		probably null	Het
Eml2	A	G	7: 18,925,620 (GRCm39)	S240G	probably benign	Het
Fam174b	G	A	7: 73,416,371 (GRCm39)		probably benign	Het
Fancd2	T	C	6: 113,512,762 (GRCm39)	S33P	possibly damaging	Het
Fars2	A	T	13: 36,430,402 (GRCm39)	M277L	probably benign	Het
Ifnar1	G	A	16: 91,302,150 (GRCm39)	G542S	probably benign	Het
Itih5	T	C	2: 10,191,831 (GRCm39)	V122A	probably benign	Het
Jph3	A	G	8: 122,516,201 (GRCm39)	I740V	probably benign	Het
Krtap16-1	C	T	11: 99,877,386 (GRCm39)	C6Y	probably benign	Het
Mettl25b	G	A	3: 87,834,978 (GRCm39)	H57Y	probably benign	Het
Mpeg1	A	T	19: 12,440,014 (GRCm39)	T491S	probably benign	Het
Mroh8	T	A	2: 157,055,605 (GRCm39)	I998L	possibly damaging	Het
Nrxn1	G	A	17: 90,869,233 (GRCm39)	Q124*	probably null	Het
Nup188	T	A	2: 30,222,461 (GRCm39)	S1028T	possibly damaging	Het
Nxf1	A	T	19: 8,745,118 (GRCm39)	H456L	probably damaging	Het
Or2aj6	T	A	16: 19,443,743 (GRCm39)	I36F	possibly damaging	Het
Or2n1d	C	A	17: 38,646,434 (GRCm39)	P129T	probably damaging	Het
Or5af2	T	A	11: 58,707,959 (GRCm39)	S42T	possibly damaging	Het
Or5w19	T	A	2: 87,698,543 (GRCm39)	D69E	probably damaging	Het
Or6c66	T	A	10: 129,461,820 (GRCm39)	I37F	possibly damaging	Het
Otx2	T	C	14: 48,896,227 (GRCm39)	N277S	probably damaging	Het
Pax4	T	C	6: 28,445,201 (GRCm39)	N158S	probably benign	Het
Pgm2	T	G	5: 64,261,159 (GRCm39)	S218A	probably benign	Het
Plb1	T	C	5: 32,521,402 (GRCm39)	S1418P	probably benign	Het
Prkd3	T	A	17: 79,292,751 (GRCm39)	D107V	probably damaging	Het
Prl2a1	A	G	13: 27,992,398 (GRCm39)	E174G	probably benign	Het
Prr7	C	T	13: 55,620,574 (GRCm39)	P194L	probably damaging	Het
Psmd2	T	C	16: 20,470,994 (GRCm39)	S46P	probably damaging	Het
Ptbp2	C	T	3: 119,541,258 (GRCm39)	A231T	possibly damaging	Het
Rae1	A	G	2: 172,854,016 (GRCm39)	T265A	probably benign	Het
Sct	T	C	7: 140,859,007 (GRCm39)	E2G	unknown	Het
Sec14l3	T	G	11: 4,015,007 (GRCm39)		probably null	Het
Sfxn3	T	A	19: 45,038,727 (GRCm39)	N131K	probably damaging	Het
Slc18a2	A	T	19: 59,282,326 (GRCm39)	D511V	probably benign	Het
Slc20a2	T	C	8: 23,025,457 (GRCm39)	I53T	probably damaging	Het
Smad4	T	C	18: 73,782,941 (GRCm39)	D331G	probably damaging	Het
Srms	C	T	2: 180,848,050 (GRCm39)	R485H		Het
Szt2	C	A	4: 118,242,630 (GRCm39)	A1486S	possibly damaging	Het
Vdr	A	T	15: 97,782,753 (GRCm39)	I23N	probably damaging	Het
Vmn1r204	T	C	13: 22,740,564 (GRCm39)	V65A	possibly damaging	Het
Vps33b	A	G	7: 79,939,743 (GRCm39)	D498G	probably benign	Het
Zfp442	T	A	2: 150,250,093 (GRCm39)	Y603F	probably benign	Het
Zfp853	T	A	5: 143,275,320 (GRCm39)	Q115L	unknown	Het
Zmiz2	C	A	11: 6,348,271 (GRCm39)	Q303K	probably benign	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
R1520:Tmem87b	UTSW	2	128,681,176 (GRCm39)	critical splice donor 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
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'- CTCAGTCCTGCCTGTGTACG -3'
(R):5'- ACAGTCTCTGTCTGTGTGTTCTG -3'

Sequencing Primer
(F):5'- AGTCCTGCCTGTGTACGGTTTG -3'
(R):5'- ATCTACTGCAGCTTCCTGGGTAAATG -3'

Posted On

2021-12-30