Mutagenetix > Incidental Mutations

Incidental Mutation 'R1908:Tmem87b'

210028

Institutional Source

Beutler Lab

Gene Symbol

Tmem87b

Ensembl Gene

ENSMUSG00000014353

Gene Name

transmembrane protein 87B

Synonyms

MMRRC Submission

039927-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128818118-128854261 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128831559 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 241 (V241D)

Ref Sequence

ENSEMBL: ENSMUSP00000119093 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110325
AA Change: V256D

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

SMART Domains

Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: V256D

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: V241D

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

SMART Domains

Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: V241D

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: V256D

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

SMART Domains

Protein: ENSMUSP00000136169
Gene: ENSMUSG00000014353
AA Change: V256D

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,226,575	D292E	probably damaging	Het
4931406P16Rik	T	A	7: 34,258,036	I59L	probably benign	Het
Abca8b	C	A	11: 109,957,098	L852F	possibly damaging	Het
Abcc6	T	C	7: 46,020,134		probably null	Het
Alg11	T	G	8: 22,065,568	C240G	probably damaging	Het
Aox1	A	G	1: 58,102,624	I1190V	probably damaging	Het
Apc2	T	G	10: 80,314,844	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,652,763	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,724,259	S865R	probably benign	Het
Ass1	T	A	2: 31,493,148	Y190*	probably null	Het
B4galnt3	A	T	6: 120,210,090		probably null	Het
Btnl10	C	A	11: 58,920,541	P230Q	possibly damaging	Het
C3	A	G	17: 57,209,489	Y1348H	probably damaging	Het
Cebpz	A	T	17: 78,934,907	Y439*	probably null	Het
Cic	C	A	7: 25,286,840	T1229K	probably damaging	Het
Clip4	T	C	17: 71,837,749	S524P	probably damaging	Het
Col6a3	A	C	1: 90,811,699	I269R	probably damaging	Het
Dbh	C	T	2: 27,181,494	T533I	possibly damaging	Het
Dcaf17	A	T	2: 71,060,369	R83*	probably null	Het
Dnah1	A	G	14: 31,262,558	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,631,562	D510E	probably benign	Het
Dock6	A	G	9: 21,841,629	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,227,455	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,510,817	G461V	possibly damaging	Het
Epg5	T	A	18: 77,959,032	D555E	probably benign	Het
Fes	T	C	7: 80,386,861	R113G	probably damaging	Het
Gm10684	A	G	9: 45,110,213		probably benign	Het
Gm12185	T	C	11: 48,915,404	E320G	probably benign	Het
Gm14412	G	T	2: 177,315,476	H209N	probably damaging	Het
Gm14412	A	C	2: 177,315,837	S88R	probably benign	Het
Grhl1	T	A	12: 24,608,556	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,773,684	Y216*	probably null	Het
Hephl1	A	C	9: 15,074,124	Y745*	probably null	Het
Hmcn2	T	G	2: 31,411,910		probably null	Het
Hs3st6	A	G	17: 24,758,136	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,529,511	V9I	probably benign	Het
Jakmip2	T	C	18: 43,567,144	T450A	probably benign	Het
Lrp4	T	A	2: 91,498,408	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,457,841	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,083,834	I58F	probably benign	Het
Mga	T	A	2: 119,926,594	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,222	V1499E	probably damaging	Het
Myom2	G	T	8: 15,081,023	D320Y	probably damaging	Het
Olfr1220	G	A	2: 89,097,544	P128S	probably damaging	Het
Olfr1395	A	C	11: 49,148,274	N6H	possibly damaging	Het
Olfr458	C	T	6: 42,460,426	V198M	probably benign	Het
Olfr60	T	C	7: 140,345,465	I175V	probably benign	Het
Olfr74	A	T	2: 87,974,059	V202D	possibly damaging	Het
Olfr740	T	A	14: 50,453,838	M262K	probably damaging	Het
Pabpc4	G	T	4: 123,289,068	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,962	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prdm15	G	T	16: 97,837,685	D58E	probably benign	Het
Rgl2	A	G	17: 33,932,148	T117A	probably benign	Het
Rp1	A	G	1: 4,348,720	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,241,277	E233G	probably damaging	Het
Skint6	T	A	4: 112,891,990	S798C	probably benign	Het
Slc35f1	T	C	10: 53,021,904	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,656,308	N246S	probably damaging	Het
Slc7a2	T	C	8: 40,916,497	L663S	probably benign	Het
Slco1a4	A	G	6: 141,815,447		probably null	Het
Slit2	A	G	5: 48,281,988	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863	I227T	probably damaging	Het
Smg1	A	G	7: 118,154,199		probably benign	Het
Ssu2	A	T	6: 112,384,427	L23M	probably benign	Het
St5	G	A	7: 109,525,326	Q686*	probably null	Het
Syne2	A	G	12: 76,094,279		probably null	Het
Tekt1	T	C	11: 72,351,935	T249A	probably benign	Het
Tfr2	T	C	5: 137,571,692	V120A	probably benign	Het
Thsd7b	C	T	1: 129,678,109	P529L	probably damaging	Het
Tll1	C	T	8: 64,025,107	D871N	probably damaging	Het
Tlr11	A	C	14: 50,361,207	I217L	probably benign	Het
Tshz2	T	A	2: 169,885,545	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,041	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 85,234,052	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,952,442	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,797,570	T724A	probably benign	Het
Wdr11	T	C	7: 129,605,230	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,216,220	D379E	probably damaging	Het
Zfp78	C	T	7: 6,378,898	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,171,548	M1R	probably null	Het
Zkscan8	G	A	13: 21,525,155	P191L	probably damaging	Het

Other mutations in Tmem87b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Tmem87b	APN	2	128831216	missense	probably damaging	1.00
IGL02224:Tmem87b	APN	2	128834207	missense	possibly damaging	0.91
IGL03387:Tmem87b	APN	2	128823099	missense	probably benign	0.08
PIT4445001:Tmem87b	UTSW	2	128831471	missense	probably benign	0.02
R0054:Tmem87b	UTSW	2	128831441	critical splice acceptor site	probably benign
R0054:Tmem87b	UTSW	2	128831441	critical splice acceptor site	probably benign
R0363:Tmem87b	UTSW	2	128831233	missense	probably damaging	1.00
R0750:Tmem87b	UTSW	2	128818436	missense	possibly damaging	0.92
R1496:Tmem87b	UTSW	2	128826393	splice site	probably null
R1520:Tmem87b	UTSW	2	128839256	critical splice donor site	probably null
R1766:Tmem87b	UTSW	2	128839170	missense	probably damaging	0.96
R2041:Tmem87b	UTSW	2	128831589	missense	probably damaging	1.00
R3840:Tmem87b	UTSW	2	128826384	nonsense	probably null
R4426:Tmem87b	UTSW	2	128846750	missense	probably benign	0.00
R5105:Tmem87b	UTSW	2	128831589	missense	probably damaging	1.00
R5159:Tmem87b	UTSW	2	128824458	missense	probably benign	0.00
R5471:Tmem87b	UTSW	2	128851320	missense	possibly damaging	0.58
R6550:Tmem87b	UTSW	2	128824465	missense	possibly damaging	0.79
R7467:Tmem87b	UTSW	2	128849151	splice site	probably null
R7664:Tmem87b	UTSW	2	128849054	missense	possibly damaging	0.89
R7696:Tmem87b	UTSW	2	128841317	missense	probably damaging	0.96
R7971:Tmem87b	UTSW	2	128850330	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATTGCTTTGACATGTCCTC -3'
(R):5'- CCGTCCTCTTTACTGGGAAC -3'

Sequencing Primer
(F):5'- CTGCTTTCAGAGAGACTAAGAAATG -3'
(R):5'- TGGGAACACAGATATTTGCAAACC -3'

Posted On

2014-06-30