Mutagenetix > Incidental Mutation

Incidental Mutation 'R3683:Zmpste24'

269417

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

040681-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R3683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120918288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 445 (F445L)

Ref Sequence

ENSEMBL: ENSMUSP00000053900 (fasta)

Gene Model

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

AlphaFold

Q80W54

Predicted Effect

probably damaging
Transcript: ENSMUST00000058754
AA Change: F445L

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

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: F445L

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 80,463,841 (GRCm39)	D622G	possibly damaging	Het
Acad11	T	C	9: 103,992,543 (GRCm39)	I495T	probably damaging	Het
Acat1	C	T	9: 53,498,765 (GRCm39)	A307T	probably damaging	Het
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Bmp2	T	A	2: 133,396,392 (GRCm39)	V16D	probably benign	Het
Cables2	G	A	2: 179,906,263 (GRCm39)	R121*	probably null	Het
Calb2	A	G	8: 110,883,620 (GRCm39)	Y35H	probably benign	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Clcn7	T	C	17: 25,369,567 (GRCm39)	L301P	possibly damaging	Het
Corin	T	C	5: 72,488,198 (GRCm39)	D610G	probably damaging	Het
Csrnp2	A	T	15: 100,379,879 (GRCm39)	S471T	probably benign	Het
Dnah7a	C	A	1: 53,483,675 (GRCm39)	M3367I	probably benign	Het
Elp4	A	T	2: 105,533,106 (GRCm39)	M413K	possibly damaging	Het
Fat1	A	G	8: 45,470,975 (GRCm39)	D1593G	probably benign	Het
Fbxw24	G	A	9: 109,437,110 (GRCm39)	P259L	possibly damaging	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gldn	G	A	9: 54,245,624 (GRCm39)	E392K	possibly damaging	Het
Klra9	T	C	6: 130,168,260 (GRCm39)	N2S	probably benign	Het
Lama1	A	G	17: 68,075,328 (GRCm39)	D1015G	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Nrxn1	T	C	17: 90,930,880 (GRCm39)	D779G	probably damaging	Het
Or2d3c	G	A	7: 106,526,301 (GRCm39)	R122*	probably null	Het
Or4a73	C	A	2: 89,421,099 (GRCm39)	R120L	probably damaging	Het
Or4c118	A	T	2: 88,975,364 (GRCm39)	M1K	probably null	Het
Or5d37	T	A	2: 87,923,603 (GRCm39)	I226F	probably damaging	Het
Osmr	A	C	15: 6,866,534 (GRCm39)	V380G	possibly damaging	Het
Phf21b	A	G	15: 84,682,891 (GRCm39)	I222T	probably damaging	Het
Ptprq	G	T	10: 107,544,489 (GRCm39)	T347K	probably benign	Het
Sema6d	G	T	2: 124,496,146 (GRCm39)	L63F	possibly damaging	Het
Serpinb9b	C	T	13: 33,213,581 (GRCm39)	A46V	probably damaging	Het
Sf3b3	A	G	8: 111,540,253 (GRCm39)		probably null	Het
Smpd1	T	A	7: 105,204,609 (GRCm39)	C163S	probably damaging	Het
Stat4	C	T	1: 52,052,981 (GRCm39)	T54I	possibly damaging	Het
Tacc2	A	G	7: 130,226,800 (GRCm39)	S1162G	probably benign	Het
Tbc1d20	C	T	2: 152,153,737 (GRCm39)	T354I	probably benign	Het
Tbc1d31	T	C	15: 57,815,210 (GRCm39)		probably null	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Unc79	T	A	12: 103,041,062 (GRCm39)	N698K	probably benign	Het
Utrn	A	G	10: 12,542,579 (GRCm39)	M1802T	probably benign	Het
Vmn1r8	A	C	6: 57,013,260 (GRCm39)	T104P	probably damaging	Het
Vmn2r13	C	A	5: 109,304,721 (GRCm39)	R570I	probably damaging	Het
Zfand6	G	A	7: 84,283,570 (GRCm39)	P11S	probably damaging	Het
Zfp1005	A	G	2: 150,109,976 (GRCm39)	K222R	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
IGL01731:Zmpste24	APN	4	120,955,081 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACATCAAGAGCCGGAACATG -3'
(R):5'- AACTGTCCAGTCCTTTGAGCG -3'

Sequencing Primer
(F):5'- TGCTGCCAGGACAGAATAACCG -3'
(R):5'- TCCTGACCTGTACGGCAG -3'

Posted On

2015-02-19