Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Zmpste24'

65290

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

038499-MU

Accession Numbers

Essential gene?

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

Stock #

R0277 (G1)

Quality Score

209

Status

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: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 124,917,815 (GRCm39)	K69R	unknown	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Acad11	T	C	9: 104,001,224 (GRCm39)	M708T	probably damaging	Het
Adam7	T	C	14: 68,748,306 (GRCm39)		probably null	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
Ak3	A	G	19: 29,025,192 (GRCm39)	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,481,305 (GRCm39)		probably benign	Het
Arhgef1	A	T	7: 24,623,224 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,223,051 (GRCm39)	N182S	probably benign	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
Atp8b3	T	C	10: 80,362,743 (GRCm39)	K672E	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
Casp6	T	A	3: 129,704,172 (GRCm39)	V86E	probably benign	Het
Cdca5	A	G	19: 6,140,742 (GRCm39)	E260G	unknown	Het
Cpb2	T	A	14: 75,502,898 (GRCm39)	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046 (GRCm39)	D1823G	probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	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
Fcgbp	G	T	7: 27,784,918 (GRCm39)		probably null	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
Gldc	A	G	19: 30,093,851 (GRCm39)	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619 (GRCm39)	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gnl3	A	C	14: 30,735,384 (GRCm39)		probably null	Het
Gsto1	A	T	19: 47,846,416 (GRCm39)	I88F	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
Hipk3	T	A	2: 104,271,593 (GRCm39)	L446F	probably damaging	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,827,274 (GRCm39)	D266G	probably benign	Het
Ipo4	T	C	14: 55,869,572 (GRCm39)	S363G	probably benign	Het
Kcnip3	A	G	2: 127,301,899 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,501,640 (GRCm39)	Y367C	probably damaging	Het
Klk1b4	C	G	7: 43,861,053 (GRCm39)	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Mark1	A	G	1: 184,677,149 (GRCm39)	S34P	possibly damaging	Het
Megf11	G	A	9: 64,598,632 (GRCm39)		probably null	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Myo18b	A	G	5: 112,841,213 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,808,596 (GRCm39)		probably benign	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,776,855 (GRCm39)		probably benign	Het
Nfe2l3	T	A	6: 51,434,448 (GRCm39)	M336K	probably benign	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Nsun3	A	T	16: 62,597,007 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,315 (GRCm39)	E591G	probably benign	Het
Or10g1b	T	C	14: 52,627,846 (GRCm39)	Y128C	probably damaging	Het
Or10s1	G	A	9: 39,986,010 (GRCm39)	V140I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or4k2	T	C	14: 50,423,789 (GRCm39)	N296S	probably null	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
Or6z6	T	A	7: 6,491,433 (GRCm39)	M147L	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,887,208 (GRCm39)		probably benign	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620 (GRCm39)	P100Q	probably damaging	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
Prune2	A	T	19: 17,098,753 (GRCm39)	D1419V	probably 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
Rab11fip4	A	G	11: 79,577,455 (GRCm39)	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,437,813 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,821,897 (GRCm39)	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,817,272 (GRCm39)	M1K	probably null	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
Sipa1	A	T	19: 5,704,093 (GRCm39)	M743K	probably benign	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slco6b1	A	T	1: 96,916,398 (GRCm39)		noncoding transcript	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Sort1	T	C	3: 108,231,908 (GRCm39)		probably benign	Het
Spg21	A	T	9: 65,372,629 (GRCm39)	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,795,173 (GRCm39)	I1544F	probably benign	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,712,715 (GRCm39)		probably benign	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Sv2b	A	T	7: 74,856,187 (GRCm39)	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,711,856 (GRCm39)	S255P	probably damaging	Het
Tbx15	C	T	3: 99,259,707 (GRCm39)	P526L	probably damaging	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,948,384 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,109 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 130,123,000 (GRCm39)	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,636,771 (GRCm39)		probably null	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Wdfy4	T	C	14: 32,805,742 (GRCm39)	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,235,225 (GRCm39)	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfp455	G	T	13: 67,346,728 (GRCm39)		probably null	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
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

Posted On

2013-08-08