Mutagenetix > Incidental Mutation

Incidental Mutation 'R8727:Plekhm1'

662523

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

068575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103255101-103303513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103258444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1031 (F1031L)

Ref Sequence

ENSEMBL: ENSMUSP00000047327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041272] [ENSMUST00000092557]

AlphaFold

Q7TSI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041272
AA Change: F1031L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: F1031L

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: ENSMUST00000092557

SMART Domains

Protein: ENSMUSP00000102637
Gene: ENSMUSG00000034255

Domain	Start	End	E-Value	Type
SH3	9	68	1.59e-1	SMART
low complexity region	73	89	N/A	INTRINSIC
low complexity region	220	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184350

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	C	T	16: 97,867,651 (GRCm39)	A104T	probably damaging	Het
Abhd18	T	A	3: 40,884,627 (GRCm39)	L222Q	probably damaging	Het
Adam30	C	T	3: 98,070,348 (GRCm39)	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,058,729 (GRCm39)	Q137L	probably damaging	Het
Alpl	C	T	4: 137,475,127 (GRCm39)	V269I	probably benign	Het
Ang2	C	T	14: 51,432,996 (GRCm39)	G129S	probably benign	Het
Atp6v0a1	A	T	11: 100,920,015 (GRCm39)	H216L	possibly damaging	Het
BC030500	C	T	8: 59,366,049 (GRCm39)	T61I	unknown	Het
Brpf1	T	G	6: 113,293,491 (GRCm39)	L520R	probably damaging	Het
Btbd10	A	G	7: 112,927,626 (GRCm39)	I243T	possibly damaging	Het
Bub1	C	A	2: 127,646,139 (GRCm39)	C947F	probably damaging	Het
C4b	T	C	17: 34,953,459 (GRCm39)	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,155,323 (GRCm39)	T1188A	probably benign	Het
Cdcp3	A	G	7: 130,875,485 (GRCm39)	T1770A	unknown	Het
Cnn1	G	T	9: 22,010,557 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,662 (GRCm39)	M233T	probably damaging	Het
Cox15	A	T	19: 43,735,181 (GRCm39)	C195*	probably null	Het
Cped1	A	T	6: 22,059,941 (GRCm39)	R202S	possibly damaging	Het
Dact2	A	T	17: 14,417,146 (GRCm39)	C351*	probably null	Het
Dbnl	A	G	11: 5,738,582 (GRCm39)	N8S	probably benign	Het
Depdc1a	T	A	3: 159,228,356 (GRCm39)	N369K	probably benign	Het
Dnah2	A	T	11: 69,415,005 (GRCm39)	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,341,759 (GRCm39)	Y57N	probably benign	Het
Eif2b3	A	G	4: 116,927,944 (GRCm39)	T388A	probably benign	Het
Eif4h	A	C	5: 134,654,393 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,810,667 (GRCm39)	Q288*	probably null	Het
Fbxl5	A	T	5: 43,908,362 (GRCm39)		probably benign	Het
Fgl2	C	T	5: 21,580,677 (GRCm39)	R340*	probably null	Het
Fut4	T	C	9: 14,662,082 (GRCm39)	D404G	probably damaging	Het
Glmn	G	A	5: 107,718,152 (GRCm39)	P255L	probably benign	Het
Gm14322	C	T	2: 177,411,481 (GRCm39)	T97I	probably benign	Het
Gm44511	C	A	6: 128,797,997 (GRCm39)	C32F	probably damaging	Het
Gm5478	A	G	15: 101,553,871 (GRCm39)	F247S	probably damaging	Het
Golgb1	T	A	16: 36,739,563 (GRCm39)	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,849,000 (GRCm39)	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,798,064 (GRCm39)	N140S	probably benign	Het
Htr4	A	T	18: 62,561,209 (GRCm39)	I157L	probably damaging	Het
Igf2bp3	G	T	6: 49,086,009 (GRCm39)		probably benign	Het
Kcnma1	T	G	14: 23,436,332 (GRCm39)	M790L	probably benign	Het
Kcnv1	G	A	15: 44,977,999 (GRCm39)	S13L	unknown	Het
Kctd20	C	T	17: 29,184,025 (GRCm39)	R312*	probably null	Het
Kdm3b	T	A	18: 34,960,435 (GRCm39)	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,292,919 (GRCm39)	F1286L	unknown	Het
Knl1	T	A	2: 118,899,524 (GRCm39)	F408L	probably benign	Het
Lypd5	G	T	7: 24,053,101 (GRCm39)	G253W	probably damaging	Het
Mea1	A	G	17: 46,992,614 (GRCm39)	T21A	probably benign	Het
Metrnl	A	G	11: 121,606,842 (GRCm39)	E299G	possibly damaging	Het
Mindy4	T	A	6: 55,256,055 (GRCm39)		probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,238,073 (GRCm39)	F61I	probably benign	Het
Or6c1b	T	C	10: 129,273,334 (GRCm39)	Y218H	probably benign	Het
Or6c70	T	A	10: 129,710,092 (GRCm39)	D178V	probably damaging	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pgr	C	A	9: 8,901,544 (GRCm39)	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,908,031 (GRCm39)	V157I	probably benign	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Pltp	A	G	2: 164,696,301 (GRCm39)	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,487,154 (GRCm39)	E177V	probably benign	Het
Pstk	G	T	7: 130,973,024 (GRCm39)	R41L	possibly damaging	Het
Ptprk	C	A	10: 28,442,541 (GRCm39)		probably benign	Het
Rasgrp1	T	C	2: 117,119,158 (GRCm39)	E493G	probably benign	Het
Rtn3	A	G	19: 7,434,726 (GRCm39)	L422P	probably benign	Het
Rusc2	C	T	4: 43,401,351 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,911,090 (GRCm39)	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,798,695 (GRCm39)	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 58,939,992 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,177,125 (GRCm39)	E1163G	probably benign	Het
Strip1	G	C	3: 107,521,964 (GRCm39)	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,333,299 (GRCm39)	R255C	probably benign	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Tln1	A	T	4: 43,555,911 (GRCm39)	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,905,028 (GRCm39)		probably benign	Het
Tspan11	A	T	6: 127,900,674 (GRCm39)	I82F	possibly damaging	Het
Ttn	T	C	2: 76,779,320 (GRCm39)	K1233E	unknown	Het
U2af2	T	A	7: 5,070,432 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,965,917 (GRCm39)	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,482,056 (GRCm39)	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,503 (GRCm39)	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,508,462 (GRCm39)	S221P	probably damaging	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zpld2	T	C	4: 133,930,150 (GRCm39)	K52E	probably benign	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
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
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'- ATGTCAGTGCTCTAGGGCCATC -3'
(R):5'- GCCATCTAAGACTGGTCTCCAC -3'

Sequencing Primer
(F):5'- CAACCCATTTGTAGACTGAGTCG -3'
(R):5'- AAGACTGGTCTCCACTTGTTC -3'

Posted On

2021-03-08