Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Zmpste24'

33909

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

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

Stock #

R0226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120938406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 244 (S244R)

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: S244R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: S244R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157543

Meta Mutation Damage Score

0.1237

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,379,569 (GRCm39)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,451,544 (GRCm39)	E876V	possibly damaging	Het
Aasdh	A	T	5: 77,049,849 (GRCm39)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,847,844 (GRCm39)		probably null	Het
Ablim1	A	T	19: 57,032,302 (GRCm39)	L556Q	probably damaging	Het
Afdn	A	G	17: 14,119,408 (GRCm39)	T1700A	probably benign	Het
Agl	G	A	3: 116,545,720 (GRCm39)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,113,863 (GRCm39)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,586 (GRCm39)	C180*	probably null	Het
Aim2	A	G	1: 173,289,899 (GRCm39)		probably benign	Het
Angpt1	T	C	15: 42,331,631 (GRCm39)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,225,727 (GRCm39)		probably null	Het
Ap1g1	C	T	8: 110,581,694 (GRCm39)	S654L	probably benign	Het
Bpifa1	T	A	2: 153,987,977 (GRCm39)	S173R	probably benign	Het
Brd8	T	C	18: 34,736,947 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,381,670 (GRCm39)	T161A	probably benign	Het
Car6	T	C	4: 150,271,965 (GRCm39)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,557,559 (GRCm39)	L273P	probably damaging	Het
Cit	G	A	5: 116,122,899 (GRCm39)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,169,638 (GRCm39)	L48P	probably damaging	Het
Cttn	A	G	7: 143,995,589 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,743,619 (GRCm39)		probably benign	Het
Dtnbp1	A	G	13: 45,076,669 (GRCm39)	L175P	probably damaging	Het
Efl1	T	C	7: 82,342,219 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,162,830 (GRCm39)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,751,061 (GRCm39)	S665T	probably benign	Het
Gm9843	A	T	16: 76,200,449 (GRCm39)		noncoding transcript	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm39)		probably benign	Het
Hdgfl1	A	T	13: 26,953,979 (GRCm39)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,425,443 (GRCm39)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,005,456 (GRCm39)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,686,039 (GRCm39)	V168G	probably damaging	Het
Itch	T	C	2: 155,041,314 (GRCm39)	I454T	probably benign	Het
Itih2	T	C	2: 10,120,110 (GRCm39)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,819,935 (GRCm39)	I304V	probably benign	Het
Kcnh1	G	A	1: 191,959,112 (GRCm39)	W222*	probably null	Het
Kcnh1	G	T	1: 191,959,113 (GRCm39)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm39)	K287*	probably null	Het
Lrig3	A	G	10: 125,807,986 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,367,907 (GRCm39)	C202S	probably null	Het
Lrrc37	A	T	11: 103,494,067 (GRCm39)	F663L	probably benign	Het
Lrrn2	A	G	1: 132,865,558 (GRCm39)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,852,880 (GRCm39)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,791,790 (GRCm39)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,697,849 (GRCm39)		probably benign	Het
Mgat4e	A	G	1: 134,468,841 (GRCm39)	V401A	probably benign	Het
Mllt3	C	A	4: 87,758,969 (GRCm39)	V360L	probably benign	Het
Mrm1	G	A	11: 84,709,996 (GRCm39)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,788,558 (GRCm39)		probably benign	Het
Myo3b	A	G	2: 70,047,510 (GRCm39)	T311A	probably benign	Het
Myo5b	T	C	18: 74,875,251 (GRCm39)	F1552L	probably benign	Het
Myo7b	C	T	18: 32,105,949 (GRCm39)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,806,476 (GRCm39)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,329,988 (GRCm39)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,685,641 (GRCm39)	S703P	probably damaging	Het
Pclo	T	C	5: 14,815,237 (GRCm39)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,206,032 (GRCm39)		probably benign	Het
Pfkl	T	C	10: 77,828,368 (GRCm39)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,390,180 (GRCm39)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,332,692 (GRCm39)	T106S	probably benign	Het
Prrc1	A	G	18: 57,496,363 (GRCm39)	M105V	probably benign	Het
Psg26	A	G	7: 18,217,883 (GRCm39)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,622,263 (GRCm39)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,787,442 (GRCm39)	K977R	probably damaging	Het
Sart1	C	T	19: 5,431,150 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,998,167 (GRCm39)	S509G	probably benign	Het
Sin3b	A	T	8: 73,471,136 (GRCm39)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,576,795 (GRCm39)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,728,215 (GRCm39)	S388P	probably damaging	Het
Srms	A	G	2: 180,854,175 (GRCm39)	S131P	probably benign	Het
Sting1	A	T	18: 35,872,141 (GRCm39)	F120L	probably benign	Het
Stxbp5	T	C	10: 9,742,442 (GRCm39)		probably benign	Het
Taar2	T	C	10: 23,816,961 (GRCm39)	V167A	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,899 (GRCm39)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,544,513 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,878,495 (GRCm39)	K771R	probably damaging	Het
Treml1	C	T	17: 48,667,486 (GRCm39)	L124F	probably damaging	Het
Ttn	G	T	2: 76,611,141 (GRCm39)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,449,685 (GRCm39)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,402,508 (GRCm39)	V248L	possibly damaging	Het
Vps35	T	C	8: 86,000,204 (GRCm39)	Q474R	probably damaging	Het
Wdr17	T	A	8: 55,116,043 (GRCm39)	T580S	probably benign	Het
Xpnpep1	T	C	19: 52,998,583 (GRCm39)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,096,511 (GRCm39)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,414,161 (GRCm39)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,393,188 (GRCm39)	K57M	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GGATTTGGCATCAGGCTACCAGTTTC -3'
(R):5'- GCCATTTCCACCAGCATGAACAAGG -3'

Sequencing Primer
(F):5'- cttggctcctctggaagaac -3'
(R):5'- TGGCTTACAGTGCCAGAAATC -3'

Posted On

2013-05-09