Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01731:Zmpste24'

105479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120955081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 39 (Q39L)

Ref Sequence

ENSEMBL: ENSMUSP00000053900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058754] [ENSMUST00000135788]

AlphaFold

Q80W54

Predicted Effect

probably benign
Transcript: ENSMUST00000058754
AA Change: Q39L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: Q39L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135788

SMART Domains

Protein: ENSMUSP00000122588
Gene: ENSMUSG00000043207

Domain	Start	End	E-Value	Type
PDB:2YPT\|E	1	146	5e-58	PDB

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,762,711 (GRCm39)		probably benign	Het
Abca13	T	C	11: 9,199,749 (GRCm39)		probably benign	Het
Abcc6	G	A	7: 45,652,034 (GRCm39)	P611L	possibly damaging	Het
Acsl6	A	G	11: 54,241,385 (GRCm39)	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472 (GRCm39)	F337L	possibly damaging	Het
Alg1	C	T	16: 5,062,383 (GRCm39)	R422C	probably benign	Het
Ankrd23	A	G	1: 36,573,147 (GRCm39)	L75S	probably damaging	Het
Arid5b	T	C	10: 67,933,439 (GRCm39)	H578R	probably damaging	Het
Atp10a	G	T	7: 58,447,310 (GRCm39)	W684L	probably benign	Het
Bzw2	T	C	12: 36,157,647 (GRCm39)		probably null	Het
C2cd2	A	T	16: 97,671,372 (GRCm39)	I509K	probably damaging	Het
Card11	T	C	5: 140,868,057 (GRCm39)	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,993,948 (GRCm39)	S278P	possibly damaging	Het
Chd8	T	C	14: 52,450,111 (GRCm39)	I208V	probably benign	Het
Cstf2t	T	C	19: 31,061,738 (GRCm39)	S425P	probably benign	Het
Cxcl1	A	G	5: 91,039,436 (GRCm39)	T60A	probably benign	Het
Diaph1	G	T	18: 37,986,762 (GRCm39)		probably benign	Het
Dnai4	T	C	4: 102,919,632 (GRCm39)	I139V	probably benign	Het
Exoc3l	T	G	8: 106,019,587 (GRCm39)	K394T	probably benign	Het
Fabp4	T	C	3: 10,270,293 (GRCm39)		probably benign	Het
Fam234b	T	A	6: 135,188,903 (GRCm39)	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,849,593 (GRCm39)	D204Y	possibly damaging	Het
Hephl1	A	T	9: 14,981,066 (GRCm39)	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,053,252 (GRCm39)	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,619,462 (GRCm39)	D226E	probably benign	Het
Lipo4	T	A	19: 33,490,013 (GRCm39)	Q163L	probably damaging	Het
Med13l	T	C	5: 118,880,472 (GRCm39)	I1188T	probably benign	Het
Mki67	T	C	7: 135,298,278 (GRCm39)	E2252G	probably benign	Het
Nepn	G	T	10: 52,276,660 (GRCm39)	R132L	probably benign	Het
Nlrp9b	T	A	7: 19,757,342 (GRCm39)	L193*	probably null	Het
Ntn1	A	G	11: 68,276,244 (GRCm39)	S235P	probably damaging	Het
Nup210l	G	T	3: 90,061,873 (GRCm39)	R684L	probably damaging	Het
Obi1	T	C	14: 104,716,738 (GRCm39)	D545G	probably damaging	Het
Obp2b	A	G	2: 25,629,293 (GRCm39)	S154G	possibly damaging	Het
Or10ag59	A	G	2: 87,406,282 (GRCm39)	T285A	probably benign	Het
Or4f57	A	G	2: 111,790,980 (GRCm39)	V146A	probably benign	Het
Or51b6b	T	A	7: 103,310,053 (GRCm39)	T135S	probably benign	Het
Or5p1	A	T	7: 107,916,682 (GRCm39)	I194F	probably benign	Het
Polr3b	A	T	10: 84,467,704 (GRCm39)	R95*	probably null	Het
Prelid2	C	T	18: 42,070,714 (GRCm39)	V40M	probably benign	Het
Ptprb	T	G	10: 116,208,781 (GRCm39)	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,551,240 (GRCm39)	V79A	probably benign	Het
Stam2	A	G	2: 52,598,162 (GRCm39)	I259T	probably damaging	Het
Tdpoz4	A	T	3: 93,704,189 (GRCm39)	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,259,721 (GRCm39)	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,757 (GRCm39)	*852K	probably null	Het
Zfp7	C	T	15: 76,772,505 (GRCm39)	Q69*	probably null	Het
Zfp865	G	T	7: 5,032,875 (GRCm39)	A287S	probably benign	Het

Other mutations in Zmpste24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Zmpste24	APN	4	120,940,012 (GRCm39)	unclassified	probably benign
IGL00672:Zmpste24	APN	4	120,923,057 (GRCm39)	missense	probably damaging	1.00
IGL00828:Zmpste24	APN	4	120,931,717 (GRCm39)	missense	possibly damaging	0.66
IGL01738:Zmpste24	APN	4	120,918,308 (GRCm39)	missense	probably damaging	1.00
IGL02668:Zmpste24	APN	4	120,918,297 (GRCm39)	missense	probably damaging	1.00
R0097:Zmpste24	UTSW	4	120,952,740 (GRCm39)	splice site	probably benign
R0097:Zmpste24	UTSW	4	120,952,740 (GRCm39)	splice site	probably benign
R0226:Zmpste24	UTSW	4	120,938,406 (GRCm39)	missense	probably benign	0.00
R0277:Zmpste24	UTSW	4	120,940,050 (GRCm39)	missense	probably damaging	1.00
R0323:Zmpste24	UTSW	4	120,940,050 (GRCm39)	missense	probably damaging	1.00
R1822:Zmpste24	UTSW	4	120,944,513 (GRCm39)	missense	possibly damaging	0.78
R2233:Zmpste24	UTSW	4	120,955,162 (GRCm39)	missense	probably benign	0.05
R2374:Zmpste24	UTSW	4	120,931,734 (GRCm39)	missense	probably benign
R3683:Zmpste24	UTSW	4	120,918,288 (GRCm39)	missense	probably damaging	1.00
R4810:Zmpste24	UTSW	4	120,918,251 (GRCm39)	missense	probably damaging	1.00
R5169:Zmpste24	UTSW	4	120,925,914 (GRCm39)	missense	probably damaging	1.00
R5650:Zmpste24	UTSW	4	120,940,074 (GRCm39)	missense	possibly damaging	0.67
R5709:Zmpste24	UTSW	4	120,923,075 (GRCm39)	missense	probably benign
R6429:Zmpste24	UTSW	4	120,952,867 (GRCm39)	missense	probably damaging	0.99
R7165:Zmpste24	UTSW	4	120,940,091 (GRCm39)	missense	probably null	1.00
R7353:Zmpste24	UTSW	4	120,952,778 (GRCm39)	missense	probably damaging	1.00
R7498:Zmpste24	UTSW	4	120,940,028 (GRCm39)	missense	probably benign	0.00
R8416:Zmpste24	UTSW	4	120,940,556 (GRCm39)	missense	probably benign	0.42
R8958:Zmpste24	UTSW	4	120,944,508 (GRCm39)	nonsense	probably null
R9138:Zmpste24	UTSW	4	120,923,018 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21