Mutagenetix > Incidental Mutation

Incidental Mutation 'R0323:Zmpste24'

65003

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

038533-MU

Accession Numbers

Essential gene?

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

Stock #

R0323 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120940050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 199 (Y199H)

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: Y199H

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

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: Y199H

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: ENSMUST00000157543

Meta Mutation Damage Score

0.4689

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 94.2%
20x: 86.1%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,446,674 (GRCm39)	T816S	possibly damaging	Het
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
4931429P17Rik	A	C	13: 48,114,493 (GRCm39)		noncoding transcript	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Accsl	T	A	2: 93,691,425 (GRCm39)	Q351L	probably benign	Het
Acot6	A	C	12: 84,155,953 (GRCm39)	E300D	probably benign	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Agps	T	A	2: 75,724,505 (GRCm39)	Y506*	probably null	Het
Appl1	A	T	14: 26,664,695 (GRCm39)	V446D	possibly damaging	Het
Arcn1	A	T	9: 44,670,356 (GRCm39)	I90N	probably damaging	Het
Aspscr1	G	A	11: 120,569,246 (GRCm39)	V15I	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Barx1	A	G	13: 48,819,430 (GRCm39)	T243A	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Cacul1	A	G	19: 60,531,498 (GRCm39)	I257T	probably benign	Het
Chml	A	T	1: 175,514,650 (GRCm39)	F424I	probably benign	Het
Clcn1	A	T	6: 42,287,074 (GRCm39)	E710D	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dnajc13	A	G	9: 104,034,091 (GRCm39)	S2188P	probably damaging	Het
Dyrk1b	C	A	7: 27,884,781 (GRCm39)	Q399K	probably benign	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgr1	T	C	3: 96,193,145 (GRCm39)	E284G	possibly damaging	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Fsip2	T	C	2: 82,816,240 (GRCm39)	I3991T	probably benign	Het
Galnt15	A	T	14: 31,770,042 (GRCm39)	H249L	probably damaging	Het
Gm10803	T	A	2: 93,394,415 (GRCm39)	Y62*	probably null	Het
Gm20730	G	A	6: 43,058,449 (GRCm39)		probably null	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gmpr2	A	G	14: 55,910,203 (GRCm39)	D11G	probably damaging	Het
Gucy1b1	T	A	3: 81,945,463 (GRCm39)		probably null	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hyal4	A	T	6: 24,756,193 (GRCm39)	N137I	probably benign	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Ldb3	G	A	14: 34,266,002 (GRCm39)	T531I	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Lrp2	T	C	2: 69,299,983 (GRCm39)	Y3023C	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Lrriq1	A	T	10: 103,057,150 (GRCm39)	C217S	possibly damaging	Het
Mmrn2	A	T	14: 34,119,991 (GRCm39)	Q287L	probably damaging	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Or10ag60	G	A	2: 87,437,841 (GRCm39)	M36I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6n2	A	G	1: 173,896,893 (GRCm39)	T10A	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde11a	C	T	2: 75,877,118 (GRCm39)		probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Polrmt	T	C	10: 79,577,832 (GRCm39)	T287A	probably benign	Het
Ppfia2	A	G	10: 106,732,281 (GRCm39)	I943V	possibly damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Scn9a	T	C	2: 66,398,475 (GRCm39)	E45G	probably damaging	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,033,978 (GRCm39)	M777K	probably benign	Het
Shc1	T	C	3: 89,331,020 (GRCm39)	L106P	probably damaging	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slc28a3	C	A	13: 58,711,866 (GRCm39)	G487*	probably null	Het
Slc49a4	ACC	AC	16: 35,539,730 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Spta1	A	G	1: 174,046,017 (GRCm39)	T1594A	probably damaging	Het
Srarp	G	A	4: 141,160,690 (GRCm39)	Q48*	probably null	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Trpc6	A	T	9: 8,610,276 (GRCm39)	H248L	probably damaging	Het
Trpc6	A	G	9: 8,643,537 (GRCm39)	K441E	probably damaging	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Vmn1r63	A	G	7: 5,806,335 (GRCm39)	V99A	probably benign	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfhx2	C	A	14: 55,303,436 (GRCm39)	S1516I	possibly 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
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
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

Posted On

2013-08-08