Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Tmem87b'

717136

Institutional Source

Beutler Lab

Gene Symbol

Tmem87b

Ensembl Gene

ENSMUSG00000014353

Gene Name

transmembrane protein 87B

Synonyms

2810431I02Rik, 2610301K12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128660038-128696181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128660353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 32 (L32P)

Ref Sequence

ENSEMBL: ENSMUSP00000105954 (fasta)

Gene Model

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

AlphaFold

Q8BKU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110325
AA Change: L32P

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: L32P

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

possibly damaging
Transcript: ENSMUST00000152210
AA Change: L17P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: L17P

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,842 (GRCm39)	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl2fm1	T	C	3: 59,840,114 (GRCm39)	I62T	possibly damaging	Het
Acp5	G	A	9: 22,038,483 (GRCm39)	Q273*	probably null	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,835,660 (GRCm39)	N468K	probably damaging	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Bphl	A	T	13: 34,234,312 (GRCm39)	I143L	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cemip2	T	A	19: 21,779,249 (GRCm39)	V353D	probably damaging	Het
Cfap96	C	T	8: 46,409,458 (GRCm39)	S287N	probably damaging	Het
Colec10	A	G	15: 54,325,761 (GRCm39)	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,433,795 (GRCm39)	M759T	probably benign	Het
Ctc1	A	G	11: 68,913,593 (GRCm39)	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,345,208 (GRCm39)	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Erv3	C	A	2: 131,697,975 (GRCm39)	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fbn1	A	T	2: 125,160,984 (GRCm39)	N2185K	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Gemin4	A	G	11: 76,101,749 (GRCm39)	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,500,646 (GRCm39)	T124A	unknown	Het
Gm17669	G	T	18: 67,695,682 (GRCm39)	V76L	probably benign	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hcls1	A	T	16: 36,777,702 (GRCm39)	M274L	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Lrrc41	T	A	4: 115,932,806 (GRCm39)		probably null	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mix23	A	G	16: 35,892,491 (GRCm39)	E12G	probably benign	Het
Muc6	T	A	7: 141,237,398 (GRCm39)	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 19,760,462 (GRCm39)	K624N	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4d2	C	T	11: 87,784,082 (GRCm39)	V223M	probably benign	Het
Or6e1	T	C	14: 54,520,137 (GRCm39)	T72A	probably damaging	Het
Otud4	T	C	8: 80,400,087 (GRCm39)	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pdc	T	C	1: 150,208,919 (GRCm39)	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkn1	C	T	8: 84,410,799 (GRCm39)	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Podn	C	T	4: 107,876,106 (GRCm39)	V517I	probably benign	Het
Pomk	T	C	8: 26,473,344 (GRCm39)	D203G	probably damaging	Het
Ppil4	A	G	10: 7,675,355 (GRCm39)	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,354,647 (GRCm39)	I276T	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Rbm12	G	T	2: 155,939,738 (GRCm39)	T178K	unknown	Het
Sctr	T	C	1: 119,959,403 (GRCm39)		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,066,744 (GRCm39)		probably benign	Het
Spata31e4	T	A	13: 50,855,465 (GRCm39)	S368T	possibly damaging	Het
Steap1	A	T	5: 5,786,458 (GRCm39)	D326E	probably damaging	Het
Stra6	G	A	9: 58,059,175 (GRCm39)	V513I	probably benign	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tcea3	T	A	4: 135,991,885 (GRCm39)	C190S	probably damaging	Het
Tfr2	G	A	5: 137,572,701 (GRCm39)	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Ulbp1	C	A	10: 7,406,371 (GRCm39)	M196I	probably benign	Het
Vash1	G	A	12: 86,738,663 (GRCm39)	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Vta1	A	G	10: 14,531,583 (GRCm39)	I264T	probably benign	Het
Zcchc8	A	T	5: 123,838,633 (GRCm39)	M635K	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
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
R9586:Tmem87b	UTSW	2	128,660,260 (GRCm39)	start codon destroyed	probably null	0.77

Predicted Primers

PCR Primer
(F):5'- TGAGCCTATTTCCTCTAACAGC -3'
(R):5'- CCCTAGTGAATGTGCCCAAG -3'

Sequencing Primer
(F):5'- CTATCCGCTTCAGCCCAAG -3'
(R):5'- AAGGCCAGACTGGTCCG -3'

Posted On

2022-07-18