Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01738:Zmpste24'

105775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

121059237-121098241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121061111 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 438 (L438Q)

Ref Sequence

ENSEMBL: ENSMUSP00000053900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058754]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058754
AA Change: L438Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: L438Q

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M48_N	41	225	2.5e-70	PFAM
Pfam:Peptidase_M48	228	473	5.5e-75	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are deficient in proteolytic processing of prelamin A and display many abnormalities including retarded growth, bone fragility, hair loss, cardiomyopathy, muscular dystrophy and lipodystrophy. Most die prematurely, but some survive and reproduce. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 105,710,036	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,381,038	V29I	probably benign	Het
Akap6	G	T	12: 52,886,817	C364F	probably damaging	Het
Calcrl	T	G	2: 84,370,449	M84L	probably benign	Het
Cep128	C	A	12: 91,230,842	G402C	probably damaging	Het
Cfap43	A	G	19: 47,797,185	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,375,617		probably benign	Het
Col27a1	A	G	4: 63,263,779		probably benign	Het
Cyp3a44	A	G	5: 145,794,935	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922	L179R	possibly damaging	Het
Ell	T	A	8: 70,581,681		probably null	Het
Gfm1	A	G	3: 67,456,661	E490G	probably benign	Het
Glt1d1	T	G	5: 127,632,355		probably benign	Het
Gm10267	A	T	18: 44,159,275	I10K	possibly damaging	Het
Htra4	A	G	8: 25,025,711	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,623,441	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,256,459		probably benign	Het
Ipcef1	A	T	10: 6,890,575	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,723,900	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,737,241	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,570,645	F126L	probably damaging	Het
Myo1e	A	G	9: 70,359,370	K631E	probably damaging	Het
Olfr902	A	C	9: 38,449,646	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,433,780		probably benign	Het
Serpina3b	T	G	12: 104,130,832	L124R	probably damaging	Het
Srgap2	T	C	1: 131,296,426	I95V	probably benign	Het
Sstr5	A	T	17: 25,491,610	I215N	probably damaging	Het
Top3b	G	A	16: 16,880,604	V104M	probably benign	Het
Tspan8	G	A	10: 115,817,665		probably null	Het
Vmn2r102	A	G	17: 19,677,758	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,429,498	G472S	probably damaging	Het

Other mutations in Zmpste24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Zmpste24	APN	4	121082815	unclassified	probably benign
IGL00672:Zmpste24	APN	4	121065860	missense	probably damaging	1.00
IGL00828:Zmpste24	APN	4	121074520	missense	possibly damaging	0.66
IGL01731:Zmpste24	APN	4	121097884	missense	probably benign
IGL02668:Zmpste24	APN	4	121061100	missense	probably damaging	1.00
R0097:Zmpste24	UTSW	4	121095543	splice site	probably benign
R0097:Zmpste24	UTSW	4	121095543	splice site	probably benign
R0226:Zmpste24	UTSW	4	121081209	missense	probably benign	0.00
R0277:Zmpste24	UTSW	4	121082853	missense	probably damaging	1.00
R0323:Zmpste24	UTSW	4	121082853	missense	probably damaging	1.00
R1822:Zmpste24	UTSW	4	121087316	missense	possibly damaging	0.78
R2233:Zmpste24	UTSW	4	121097965	missense	probably benign	0.05
R2374:Zmpste24	UTSW	4	121074537	missense	probably benign
R3683:Zmpste24	UTSW	4	121061091	missense	probably damaging	1.00
R4810:Zmpste24	UTSW	4	121061054	missense	probably damaging	1.00
R5169:Zmpste24	UTSW	4	121068717	missense	probably damaging	1.00
R5650:Zmpste24	UTSW	4	121082877	missense	possibly damaging	0.67
R5709:Zmpste24	UTSW	4	121065878	missense	probably benign
R6429:Zmpste24	UTSW	4	121095670	missense	probably damaging	0.99
R7165:Zmpste24	UTSW	4	121082894	missense	probably null	1.00
R7353:Zmpste24	UTSW	4	121095581	missense	probably damaging	1.00
R7498:Zmpste24	UTSW	4	121082831	missense	probably benign	0.00
R8416:Zmpste24	UTSW	4	121083359	missense	probably benign	0.42

Posted On

2014-01-21