Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Zmpste24'

570722

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

045439-MU

Accession Numbers

Essential gene?

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

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120952778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 81 (S81P)

Ref Sequence

ENSEMBL: ENSMUSP00000053900 (fasta)

Gene Model

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

AlphaFold

Q80W54

Predicted Effect

probably damaging
Transcript: ENSMUST00000058754
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: S81P

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 damaging
Transcript: ENSMUST00000135788
AA Change: S40P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122588
Gene: ENSMUSG00000043207
AA Change: S40P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,714 (GRCm39)	A11S	unknown	Het
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abcc9	T	A	6: 142,546,731 (GRCm39)	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,403,495 (GRCm39)	I427F	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,542,993 (GRCm39)	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,211,710 (GRCm39)	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,306,341 (GRCm39)	T454A	probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Boc	C	T	16: 44,306,100 (GRCm39)	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,413,368 (GRCm39)	N635K	probably benign	Het
Ccr2	T	C	9: 123,906,793 (GRCm39)	S358P	probably damaging	Het
Ccser2	T	C	14: 36,663,100 (GRCm39)	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,386,335 (GRCm39)	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,933,161 (GRCm39)	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,943 (GRCm39)	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,107,230 (GRCm39)	R304L	possibly damaging	Het
Dop1a	T	A	9: 86,394,912 (GRCm39)	M664K	probably damaging	Het
Emilin3	T	A	2: 160,750,741 (GRCm39)	E336V	probably damaging	Het
Eml5	A	G	12: 98,791,683 (GRCm39)	Y63H		Het
Fbxo41	G	T	6: 85,456,958 (GRCm39)	R404S	possibly damaging	Het
Gpr155	A	T	2: 73,197,835 (GRCm39)	Y456*	probably null	Het
Gpr156	T	A	16: 37,812,523 (GRCm39)	N286K	probably damaging	Het
Kcna5	A	G	6: 126,511,808 (GRCm39)	S107P	probably benign	Het
Kcne2	A	T	16: 92,093,710 (GRCm39)	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,648,025 (GRCm39)	M113L	probably benign	Het
Lad1	T	A	1: 135,755,513 (GRCm39)	L263Q	probably damaging	Het
Lctl	G	A	9: 64,034,249 (GRCm39)	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,437,424 (GRCm39)	I205F	possibly damaging	Het
Magel2	G	T	7: 62,029,079 (GRCm39)	R661L	unknown	Het
Mcm10	G	A	2: 5,011,920 (GRCm39)	P180S	possibly damaging	Het
Mia3	G	T	1: 183,108,247 (GRCm39)	A446D		Het
N4bp2	G	A	5: 65,963,714 (GRCm39)	V588M	probably benign	Het
Naip6	C	T	13: 100,436,259 (GRCm39)	V755M	probably benign	Het
Neurl1a	T	C	19: 47,229,099 (GRCm39)	V213A	probably damaging	Het
Nrdc	A	G	4: 108,896,946 (GRCm39)	T522A	probably damaging	Het
Ntng1	T	C	3: 110,042,763 (GRCm39)	Q21R	probably damaging	Het
Nup160	T	C	2: 90,534,296 (GRCm39)	L707S	probably damaging	Het
Oas2	A	T	5: 120,876,587 (GRCm39)	V452D	probably damaging	Het
Or10a3n	A	G	7: 108,493,429 (GRCm39)	F67L	probably damaging	Het
Or1j1	A	G	2: 36,702,915 (GRCm39)	L63P	probably damaging	Het
Or1j4	A	T	2: 36,740,081 (GRCm39)	M8L	probably benign	Het
Or1n1	G	A	2: 36,749,680 (GRCm39)	R227*	probably null	Het
Or52s1	A	C	7: 102,861,516 (GRCm39)	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,914,327 (GRCm39)	T1405S		Het
Pnrc1	G	A	4: 33,248,300 (GRCm39)	P33L	probably damaging	Het
Prkag2	A	T	5: 25,085,684 (GRCm39)	V312E	possibly damaging	Het
Rps17	T	A	7: 80,994,093 (GRCm39)	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,904,038 (GRCm39)	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,205,807 (GRCm39)	N460S	probably benign	Het
Slco2b1	A	T	7: 99,339,764 (GRCm39)	C56S	possibly damaging	Het
Speer1f	G	A	5: 11,466,403 (GRCm39)	D7N	possibly damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Sult2a8	T	C	7: 14,147,640 (GRCm39)	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,724,315 (GRCm39)	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,934,278 (GRCm39)	M1313L	probably benign	Het
Tmc2	G	A	2: 130,038,497 (GRCm39)		probably null	Het
Tstd1	G	T	1: 171,247,523 (GRCm39)	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,638,567 (GRCm39)	D252G	probably benign	Het
Ulk2	T	C	11: 61,710,174 (GRCm39)	N345D	probably damaging	Het
Unc13c	T	C	9: 73,481,355 (GRCm39)	D1694G	probably benign	Het
Vill	T	C	9: 118,894,561 (GRCm39)	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,564,887 (GRCm39)	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,232,452 (GRCm39)	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,315,088 (GRCm39)	S263P	probably benign	Het
Zfp980	A	G	4: 145,428,714 (GRCm39)	D481G	probably benign	Het
Znrf4	A	G	17: 56,819,169 (GRCm39)	V46A	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
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
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'- TCAGGTCCATCTGCAATGCTG -3'
(R):5'- CAAATTAATGCTACAGACCATTCGG -3'

Sequencing Primer
(F):5'- TGGCGCATACACCATTGATG -3'
(R):5'- CCATTCGGTGTTTGATCACAAATTAC -3'

Posted On

2019-09-13