Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Plekhm1'

471708

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103255101-103303513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103267517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 818 (V818E)

Ref Sequence

ENSEMBL: ENSMUSP00000047327 (fasta)

Gene Model

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

AlphaFold

Q7TSI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041272
AA Change: V818E

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: V818E

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

0.1190

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,150 (GRCm39)		probably null	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,119,826 (GRCm39)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,349,410 (GRCm39)	V62I	probably benign	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,453,784 (GRCm39)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,740,962 (GRCm39)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,142,581 (GRCm39)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rab26	T	C	17: 24,749,373 (GRCm39)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	possibly 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
R0491:Plekhm1	UTSW	11	103,285,602 (GRCm39)	missense	probably benign	0.05
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
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'- GTCCCACCCAGTATTAGGAGATG -3'
(R):5'- CCTTCTTCAAAATCATCACGGC -3'

Sequencing Primer
(F):5'- CCACCCAGTATTAGGAGATGTCAAG -3'
(R):5'- CCAAGGCCGTCCTGAAACTG -3'

Posted On

2017-03-31