Mutagenetix > Incidental Mutation

Incidental Mutation 'R2041:Tmem87b'

224884

Institutional Source

Beutler Lab

Gene Symbol

Tmem87b

Ensembl Gene

ENSMUSG00000014353

Gene Name

transmembrane protein 87B

Synonyms

2810431I02Rik, 2610301K12Rik

MMRRC Submission

040048-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128660038-128696181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128673509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 251 (V251A)

Ref Sequence

ENSEMBL: ENSMUSP00000119093 (fasta)

Gene Model

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

AlphaFold

Q8BKU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110325
AA Change: V266A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: V266A

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: ENSMUST00000143398

Predicted Effect

probably damaging
Transcript: ENSMUST00000152210
AA Change: V251A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: V251A

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

probably damaging
Transcript: ENSMUST00000178354
AA Change: V266A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136169
Gene: ENSMUSG00000014353
AA Change: V266A

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,211 (GRCm39)	D265E	probably damaging	Het
2610021A01Rik	A	G	7: 41,275,403 (GRCm39)	R369G	possibly damaging	Het
Actr3b	T	C	5: 25,965,128 (GRCm39)		probably null	Het
Adamts12	A	T	15: 11,215,821 (GRCm39)	M281L	probably damaging	Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Akap12	C	T	10: 4,306,489 (GRCm39)	P1100S	probably benign	Het
Alox8	T	A	11: 69,088,517 (GRCm39)	H40L	possibly damaging	Het
Anks1	T	A	17: 28,227,388 (GRCm39)	F659L	probably damaging	Het
Asxl3	G	T	18: 22,656,508 (GRCm39)	R1506L	probably benign	Het
Bicd2	A	G	13: 49,495,252 (GRCm39)	T36A	probably benign	Het
Ccar1	A	T	10: 62,601,827 (GRCm39)	L448Q	probably damaging	Het
Ccdc17	T	G	4: 116,456,789 (GRCm39)	N497K	probably damaging	Het
Chek2	T	C	5: 110,996,530 (GRCm39)	I164T	probably damaging	Het
Cntnap5c	T	C	17: 58,411,765 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,505,984 (GRCm39)	D669E	probably benign	Het
Cpsf6	A	G	10: 117,195,033 (GRCm39)	I482T	probably damaging	Het
Csf3	C	T	11: 98,592,483 (GRCm39)	S65L	possibly damaging	Het
Dlc1	A	G	8: 37,049,922 (GRCm39)	Y1049H	probably damaging	Het
Dnah6	T	C	6: 73,050,422 (GRCm39)	D3048G	probably damaging	Het
Eif4g3	T	A	4: 137,832,617 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,084,070 (GRCm39)	K195R	probably damaging	Het
Epn1	T	C	7: 5,086,874 (GRCm39)	S41P	probably damaging	Het
Fam120a	C	A	13: 49,051,243 (GRCm39)	V721L	probably benign	Het
Fchsd1	T	A	18: 38,100,729 (GRCm39)		probably null	Het
Fer1l6	G	A	15: 58,430,155 (GRCm39)	G194D	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fyb1	A	C	15: 6,674,268 (GRCm39)	T635P	possibly damaging	Het
Gpr153	A	G	4: 152,367,810 (GRCm39)	S554G	probably benign	Het
Grm1	A	G	10: 10,622,347 (GRCm39)	F459L	probably damaging	Het
H60c	C	T	10: 3,209,972 (GRCm39)	G105D	probably damaging	Het
Ifnlr1	T	A	4: 135,433,148 (GRCm39)	M528K	possibly damaging	Het
Lama4	A	T	10: 38,945,987 (GRCm39)	D790V	probably damaging	Het
Mfsd13b	T	C	7: 120,591,139 (GRCm39)		probably benign	Het
Mis12	T	A	11: 70,916,132 (GRCm39)	I55N	probably damaging	Het
Morn1	T	C	4: 155,175,399 (GRCm39)	Y103H	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Ndst3	C	A	3: 123,465,864 (GRCm39)	G36V	probably benign	Het
Nlrp4a	T	A	7: 26,149,611 (GRCm39)	M406K	probably damaging	Het
Or4p18	T	C	2: 88,232,568 (GRCm39)	T237A	probably damaging	Het
Or51t4	T	A	7: 102,598,170 (GRCm39)	V156E	probably damaging	Het
Or5b106	A	T	19: 13,124,041 (GRCm39)		probably benign	Het
Or7g32	A	T	9: 19,408,131 (GRCm39)	D29V	probably benign	Het
Or9m1	T	C	2: 87,733,141 (GRCm39)	N293S	probably damaging	Het
Pars2	A	G	4: 106,510,814 (GRCm39)	T199A	probably damaging	Het
Plcb4	C	T	2: 135,780,191 (GRCm39)	T172I	probably damaging	Het
Pomgnt2	A	T	9: 121,811,354 (GRCm39)	W476R	probably benign	Het
Psg23	T	A	7: 18,348,703 (GRCm39)	S35C	possibly damaging	Het
Pycr3	T	A	15: 75,791,144 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rgs2	A	G	1: 143,877,960 (GRCm39)	F80S	probably damaging	Het
Sall1	A	G	8: 89,759,429 (GRCm39)	L225P	probably benign	Het
Setd3	A	G	12: 108,079,651 (GRCm39)	I284T	possibly damaging	Het
Slc4a9	C	T	18: 36,663,846 (GRCm39)	T290I	possibly damaging	Het
Ube3b	T	C	5: 114,525,294 (GRCm39)	L39P	probably damaging	Het
Ubr2	C	A	17: 47,296,973 (GRCm39)	R269L	probably damaging	Het
Vrk2	A	T	11: 26,497,914 (GRCm39)	I90K	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp984	A	T	4: 147,839,796 (GRCm39)	C352S	probably 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
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
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'- TAAAAGGGTCAGAGGCTCACAC -3'
(R):5'- AGTGCTTTACAAACTGAGCCAC -3'

Sequencing Primer
(F):5'- GGTCAGAGGCTCACACTGTTTC -3'
(R):5'- GCTTTACAAACTGAGCCACCTTCC -3'

Posted On

2014-08-25