Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Plekhm1'

42488

Institutional Source

Beutler Lab

Gene Symbol

Plekhm1

Ensembl Gene

ENSMUSG00000034247

Gene Name

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

Synonyms

AP162, B2, D330036J23Rik

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103255101-103303513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103285602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 278 (K278E)

Ref Sequence

ENSEMBL: ENSMUSP00000047327 (fasta)

Gene Model

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

AlphaFold

Q7TSI1

Predicted Effect

probably benign
Transcript: ENSMUST00000041272
AA Change: K278E

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: K278E

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

0.0619

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	Het

Other mutations in Plekhm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Plekhm1	APN	11	103,285,609 (GRCm39)	missense	possibly damaging	0.54
IGL01876:Plekhm1	APN	11	103,267,577 (GRCm39)	missense	probably damaging	1.00
IGL02159:Plekhm1	APN	11	103,271,057 (GRCm39)	missense	probably benign	0.04
IGL02404:Plekhm1	APN	11	103,285,824 (GRCm39)	missense	probably benign	0.18
IGL02537:Plekhm1	APN	11	103,288,018 (GRCm39)	missense	probably damaging	1.00
IGL02568:Plekhm1	APN	11	103,285,876 (GRCm39)	missense	probably damaging	1.00
IGL02660:Plekhm1	APN	11	103,264,920 (GRCm39)	splice site	probably benign
IGL03130:Plekhm1	APN	11	103,268,207 (GRCm39)	missense	probably benign	0.17
IGL03208:Plekhm1	APN	11	103,267,596 (GRCm39)	missense	probably benign	0.00
R0442:Plekhm1	UTSW	11	103,288,000 (GRCm39)	missense	possibly damaging	0.45
R0520:Plekhm1	UTSW	11	103,285,770 (GRCm39)	missense	probably benign	0.17
R0964:Plekhm1	UTSW	11	103,285,908 (GRCm39)	nonsense	probably null
R1189:Plekhm1	UTSW	11	103,277,888 (GRCm39)	missense	probably benign	0.00
R1501:Plekhm1	UTSW	11	103,277,888 (GRCm39)	missense	probably benign	0.00
R1697:Plekhm1	UTSW	11	103,267,710 (GRCm39)	missense	probably damaging	1.00
R1781:Plekhm1	UTSW	11	103,285,682 (GRCm39)	missense	probably damaging	1.00
R1873:Plekhm1	UTSW	11	103,264,824 (GRCm39)	missense	probably benign	0.01
R2087:Plekhm1	UTSW	11	103,287,851 (GRCm39)	critical splice donor site	probably null
R2215:Plekhm1	UTSW	11	103,267,811 (GRCm39)	missense	probably damaging	1.00
R2271:Plekhm1	UTSW	11	103,277,948 (GRCm39)	missense	probably benign	0.00
R4256:Plekhm1	UTSW	11	103,261,760 (GRCm39)	missense	probably damaging	0.98
R4393:Plekhm1	UTSW	11	103,267,791 (GRCm39)	missense	possibly damaging	0.51
R4526:Plekhm1	UTSW	11	103,286,130 (GRCm39)	missense	probably damaging	0.97
R5119:Plekhm1	UTSW	11	103,278,141 (GRCm39)	missense	possibly damaging	0.62
R5975:Plekhm1	UTSW	11	103,267,517 (GRCm39)	missense	possibly damaging	0.49
R6389:Plekhm1	UTSW	11	103,257,720 (GRCm39)	missense	probably benign	0.21
R6454:Plekhm1	UTSW	11	103,268,208 (GRCm39)	missense	probably damaging	1.00
R6755:Plekhm1	UTSW	11	103,278,069 (GRCm39)	missense	possibly damaging	0.65
R6830:Plekhm1	UTSW	11	103,267,715 (GRCm39)	missense	probably damaging	0.97
R7039:Plekhm1	UTSW	11	103,286,054 (GRCm39)	missense	probably damaging	1.00
R7066:Plekhm1	UTSW	11	103,261,814 (GRCm39)	missense	possibly damaging	0.47
R7149:Plekhm1	UTSW	11	103,285,742 (GRCm39)	missense	probably damaging	0.98
R7349:Plekhm1	UTSW	11	103,278,160 (GRCm39)	missense	probably damaging	0.98
R7505:Plekhm1	UTSW	11	103,270,855 (GRCm39)	splice site	probably null
R7792:Plekhm1	UTSW	11	103,287,886 (GRCm39)	missense	probably damaging	0.99
R7867:Plekhm1	UTSW	11	103,271,153 (GRCm39)	missense	probably damaging	1.00
R8124:Plekhm1	UTSW	11	103,257,775 (GRCm39)	missense	probably benign	0.02
R8194:Plekhm1	UTSW	11	103,285,886 (GRCm39)	missense	possibly damaging	0.68
R8725:Plekhm1	UTSW	11	103,258,444 (GRCm39)	missense	probably damaging	1.00
R8727:Plekhm1	UTSW	11	103,258,444 (GRCm39)	missense	probably damaging	1.00
R8734:Plekhm1	UTSW	11	103,285,778 (GRCm39)	missense	probably damaging	1.00
R8927:Plekhm1	UTSW	11	103,268,039 (GRCm39)	missense	probably benign	0.04
R8928:Plekhm1	UTSW	11	103,268,039 (GRCm39)	missense	probably benign	0.04
R9681:Plekhm1	UTSW	11	103,258,950 (GRCm39)	missense	possibly damaging	0.82
X0058:Plekhm1	UTSW	11	103,268,192 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGGCCAAAGTCTCGGTTCAACTC -3'
(R):5'- AGGACATCGAAGTCCAACACTCAGG -3'

Sequencing Primer
(F):5'- ggaaacgagatgagtcccag -3'
(R):5'- TCAGGCCATAAGATCCGCAG -3'

Posted On

2013-05-23