Mutagenetix > Incidental Mutations

Incidental Mutation 'R0520:Plekhm1'

48468

Institutional Source

Beutler Lab

Gene Symbol

Plekhm1

Ensembl Gene

ENSMUSG00000034247

Gene Name

pleckstrin homology domain containing, family M (with RUN domain) member 1

Synonyms

B2, D330036J23Rik, AP162

MMRRC Submission

038713-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0520 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103364275-103412687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103394944 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 222 (I222V)

Ref Sequence

ENSEMBL: ENSMUSP00000047327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041272]

Predicted Effect

probably benign
Transcript: ENSMUST00000041272
AA Change: I222V

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: I222V

Domain	Start	End	E-Value	Type
RUN	117	180	3.36e-20	SMART
low complexity region	246	273	N/A	INTRINSIC
low complexity region	336	350	N/A	INTRINSIC
low complexity region	361	373	N/A	INTRINSIC
Blast:DUF4206	448	543	2e-11	BLAST
PH	552	644	2.16e-9	SMART
low complexity region	658	674	N/A	INTRINSIC
PH	702	797	2.15e-4	SMART
DUF4206	864	1068	7.51e-103	SMART
C1	1005	1058	2.72e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184350

Meta Mutation Damage Score

0.0826

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased trabecular bone mass and decreased bone resorption capacity of osteoclasts caused by defects in the peripheral positioning and secretion of lysosomes. Mice homozygous for a gene trap insertion do not exhibit any detectable phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010005H15Rik	A	G	16: 36,253,091	I16V	probably benign	Het
Acod1	T	C	14: 103,051,516	I154T	possibly damaging	Het
Acr	G	T	15: 89,573,227	C226F	probably damaging	Het
Aff1	C	T	5: 103,847,751	R1070*	probably null	Het
Aldh9a1	C	T	1: 167,361,391		probably benign	Het
Apaf1	A	T	10: 91,079,989	H12Q	probably damaging	Het
Asic1	A	T	15: 99,695,535	I291F	probably damaging	Het
Aspm	T	A	1: 139,478,820	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,522,986	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,186,534	W299*	probably null	Het
B3gntl1	C	A	11: 121,623,488	V313F	possibly damaging	Het
B4galnt4	T	A	7: 141,067,373	C345*	probably null	Het
Bicc1	A	T	10: 70,957,190	F211L	probably damaging	Het
Cachd1	T	G	4: 100,897,703	V117G	probably damaging	Het
Cdc16	G	A	8: 13,760,569		probably null	Het
Cers6	C	T	2: 69,105,091	Q312*	probably null	Het
Dclre1c	A	G	2: 3,436,475	H115R	probably damaging	Het
Ddx20	T	C	3: 105,687,376	T18A	probably benign	Het
Dhx57	A	G	17: 80,258,175	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,516,994	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072	M178L	probably benign	Het
Ecd	A	T	14: 20,328,664	S454T	probably benign	Het
Efcab6	G	A	15: 83,950,046	H454Y	probably benign	Het
Exo1	T	A	1: 175,899,465	D447E	probably benign	Het
F5	T	G	1: 164,209,587	I1965S	probably benign	Het
Fbn2	A	G	18: 58,013,749	C2692R	probably damaging	Het
Fggy	T	A	4: 95,601,103	L152Q	probably damaging	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Gm9871	A	G	6: 101,801,579		noncoding transcript	Het
Gnai2	A	T	9: 107,620,173	D7E	probably benign	Het
Gon7	C	T	12: 102,757,788		probably benign	Het
H2-K1	A	T	17: 33,997,416	V272E	probably damaging	Het
Hectd4	G	T	5: 121,331,707	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,181,110	R360G	probably benign	Het
Igsf9b	C	A	9: 27,323,250	S470R	probably benign	Het
Inpp5d	T	C	1: 87,705,920		probably benign	Het
Inpp5k	C	A	11: 75,639,530	Y265*	probably null	Het
Klhl33	T	G	14: 50,891,683	E436D	probably damaging	Het
Krt80	A	G	15: 101,370,017	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,873,861		probably benign	Het
March10	T	C	11: 105,389,882	T526A	probably benign	Het
Mcrs1	A	G	15: 99,248,455		probably null	Het
Msh2	G	T	17: 87,717,544	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,541,530		probably benign	Het
Nek4	T	A	14: 30,959,306		probably benign	Het
Olfr1054	G	T	2: 86,333,131	T75K	probably damaging	Het
Olfr1410	T	A	1: 92,608,749	V304E	probably damaging	Het
Olfr871	G	A	9: 20,212,495	V49I	probably benign	Het
Olfr875	T	C	9: 37,773,553	V298A	probably benign	Het
Osgin1	A	G	8: 119,442,508	H48R	probably damaging	Het
Pam	T	A	1: 97,884,195	T369S	probably benign	Het
Pclo	C	T	5: 14,713,830	Q821*	probably null	Het
Ptprg	T	G	14: 12,199,783	N65K	possibly damaging	Het
Pum2	T	A	12: 8,721,710	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,107,230		probably benign	Het
Smchd1	A	T	17: 71,429,543	D587E	possibly damaging	Het
Stap1	A	G	5: 86,090,964	M164V	probably benign	Het
Stat5a	T	C	11: 100,861,426	V30A	probably damaging	Het
Stk36	T	G	1: 74,602,206		probably benign	Het
Tiam1	G	T	16: 89,817,951		probably benign	Het
Tmc5	T	C	7: 118,666,576	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,229,412	Y89N	possibly damaging	Het
Tpp2	A	G	1: 43,990,530	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,359,151	K615E	possibly damaging	Het
Ubac2	C	T	14: 121,994,342	P227S	probably damaging	Het
Vit	A	C	17: 78,625,159	K565T	probably damaging	Het
Vps13c	T	C	9: 67,945,851	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,726,392	T173A	probably damaging	Het
Zfp759	T	C	13: 67,137,355	I60T	probably benign	Het
Zfp81	A	G	17: 33,334,377	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het

Other mutations in Plekhm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Plekhm1	APN	11	103394783	missense	possibly damaging	0.54
IGL01876:Plekhm1	APN	11	103376751	missense	probably damaging	1.00
IGL02159:Plekhm1	APN	11	103380231	missense	probably benign	0.04
IGL02404:Plekhm1	APN	11	103394998	missense	probably benign	0.18
IGL02537:Plekhm1	APN	11	103397192	missense	probably damaging	1.00
IGL02568:Plekhm1	APN	11	103395050	missense	probably damaging	1.00
IGL02660:Plekhm1	APN	11	103374094	splice site	probably benign
IGL03130:Plekhm1	APN	11	103377381	missense	probably benign	0.17
IGL03208:Plekhm1	APN	11	103376770	missense	probably benign	0.00
R0442:Plekhm1	UTSW	11	103397174	missense	possibly damaging	0.45
R0491:Plekhm1	UTSW	11	103394776	missense	probably benign	0.05
R0964:Plekhm1	UTSW	11	103395082	nonsense	probably null
R1189:Plekhm1	UTSW	11	103387062	missense	probably benign	0.00
R1501:Plekhm1	UTSW	11	103387062	missense	probably benign	0.00
R1697:Plekhm1	UTSW	11	103376884	missense	probably damaging	1.00
R1781:Plekhm1	UTSW	11	103394856	missense	probably damaging	1.00
R1873:Plekhm1	UTSW	11	103373998	missense	probably benign	0.01
R2087:Plekhm1	UTSW	11	103397025	critical splice donor site	probably null
R2215:Plekhm1	UTSW	11	103376985	missense	probably damaging	1.00
R2271:Plekhm1	UTSW	11	103387122	missense	probably benign	0.00
R4256:Plekhm1	UTSW	11	103370934	missense	probably damaging	0.98
R4393:Plekhm1	UTSW	11	103376965	missense	possibly damaging	0.51
R4526:Plekhm1	UTSW	11	103395304	missense	probably damaging	0.97
R5119:Plekhm1	UTSW	11	103387315	missense	possibly damaging	0.62
R5975:Plekhm1	UTSW	11	103376691	missense	possibly damaging	0.49
R6389:Plekhm1	UTSW	11	103366894	missense	probably benign	0.21
R6454:Plekhm1	UTSW	11	103377382	missense	probably damaging	1.00
R6755:Plekhm1	UTSW	11	103387243	missense	possibly damaging	0.65
R6830:Plekhm1	UTSW	11	103376889	missense	probably damaging	0.97
R7039:Plekhm1	UTSW	11	103395228	missense	probably damaging	1.00
R7066:Plekhm1	UTSW	11	103370988	missense	possibly damaging	0.47
R7149:Plekhm1	UTSW	11	103394916	missense	probably damaging	0.98
R7349:Plekhm1	UTSW	11	103387334	missense	probably damaging	0.98
R7505:Plekhm1	UTSW	11	103380029	splice site	probably null
R7792:Plekhm1	UTSW	11	103397060	missense	probably damaging	0.99
R7867:Plekhm1	UTSW	11	103380327	missense	probably damaging	1.00
R7950:Plekhm1	UTSW	11	103380327	missense	probably damaging	1.00
X0058:Plekhm1	UTSW	11	103377366	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGGGACCATTCTCTTGGAGCAG -3'
(R):5'- TGTGCGAGTACTATCAGCCCACAG -3'

Sequencing Primer
(F):5'- ATTCTCTTGGAGCAGGCAGC -3'
(R):5'- ACAGCCCTGCTTCGAGATG -3'

Posted On

2013-06-12