Mutagenetix > Incidental Mutation

Incidental Mutation 'R6429:Zmpste24'

518415

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

044567-MU

Accession Numbers

Essential gene?

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

Stock #

R6429 (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 120952867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 10 (V10A)

Ref Sequence

ENSEMBL: ENSMUSP00000122588 (fasta)

Gene Model

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

AlphaFold

Q80W54

Predicted Effect

probably damaging
Transcript: ENSMUST00000058754
AA Change: V51A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: V51A

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: V10A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122588
Gene: ENSMUSG00000043207
AA Change: V10A

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,366,652 (GRCm39)	E1565K	probably damaging	Het
Amy1	T	C	3: 113,363,158 (GRCm39)	N63S	probably damaging	Het
Arhgef15	G	T	11: 68,838,622 (GRCm39)	N591K	probably damaging	Het
AW551984	A	G	9: 39,511,910 (GRCm39)	S34P	probably damaging	Het
C2cd3	A	G	7: 100,081,298 (GRCm39)	D127G	probably damaging	Het
Ccdc87	T	A	19: 4,891,263 (GRCm39)	V585E	probably benign	Het
Cemip2	T	C	19: 21,779,272 (GRCm39)	C361R	probably benign	Het
Cul2	T	C	18: 3,421,345 (GRCm39)	I223T	probably damaging	Het
Dgkq	C	T	5: 108,801,574 (GRCm39)	V495M	probably damaging	Het
Dpp10	A	G	1: 123,295,330 (GRCm39)	I570T	possibly damaging	Het
Dstyk	C	T	1: 132,377,542 (GRCm39)	Q383*	probably null	Het
Emilin2	C	A	17: 71,617,951 (GRCm39)		probably benign	Het
Fnip1	A	G	11: 54,406,393 (GRCm39)	I1163M	probably damaging	Het
Fryl	C	T	5: 73,248,094 (GRCm39)	E1008K	possibly damaging	Het
Gm35315	A	T	5: 110,226,525 (GRCm39)	Y305N	possibly damaging	Het
Grhl3	T	A	4: 135,284,507 (GRCm39)	D195V	probably damaging	Het
Ift56	T	A	6: 38,375,248 (GRCm39)	S250T	possibly damaging	Het
Il33	T	C	19: 29,929,400 (GRCm39)	F41S	probably benign	Het
Il4	A	G	11: 53,504,736 (GRCm39)	S15P	possibly damaging	Het
Inf2	C	T	12: 112,570,690 (GRCm39)	P410S	probably benign	Het
Kalrn	T	A	16: 34,152,534 (GRCm39)	D349V	possibly damaging	Het
Krt4	A	G	15: 101,831,229 (GRCm39)	M224T	probably benign	Het
Lrp2	C	T	2: 69,291,631 (GRCm39)	S3516N	probably damaging	Het
Macf1	A	T	4: 123,295,387 (GRCm39)		probably null	Het
Msr1	G	A	8: 40,068,858 (GRCm39)	P213S	probably damaging	Het
Nptx1	G	T	11: 119,435,547 (GRCm39)	C256*	probably null	Het
Nr1d1	T	C	11: 98,662,840 (GRCm39)	Y51C	probably damaging	Het
Or4c11c	G	A	2: 88,661,869 (GRCm39)	R136Q	probably benign	Het
Panx3	T	C	9: 37,572,461 (GRCm39)	D363G	probably damaging	Het
Pira13	A	T	7: 3,825,345 (GRCm39)	H432Q	possibly damaging	Het
Prkag1	A	G	15: 98,712,404 (GRCm39)	F143L	probably damaging	Het
Ptger4	T	C	15: 5,272,478 (GRCm39)	K72R	possibly damaging	Het
Pvrig-ps	A	G	5: 138,340,312 (GRCm39)	T28A	probably benign	Het
Rhod	C	T	19: 4,476,133 (GRCm39)	C206Y	probably benign	Het
Rngtt	C	A	4: 33,320,606 (GRCm39)	S51*	probably null	Het
Rreb1	T	G	13: 38,116,105 (GRCm39)	S1155A	probably benign	Het
Scn9a	A	C	2: 66,357,307 (GRCm39)	I998S	possibly damaging	Het
Sfmbt1	T	A	14: 30,495,868 (GRCm39)	F50L	probably damaging	Het
Six4	A	T	12: 73,150,247 (GRCm39)	V766D	probably damaging	Het
Smpd1	T	C	7: 105,206,135 (GRCm39)	I421T	probably damaging	Het
Son	T	A	16: 91,455,054 (GRCm39)	M1267K	probably benign	Het
Styk1	T	A	6: 131,287,027 (GRCm39)	D156V	possibly damaging	Het
Supt3	A	G	17: 45,430,030 (GRCm39)	E361G	probably benign	Het
Tbx3	T	A	5: 119,812,256 (GRCm39)	Y185*	probably null	Het
Trpm1	A	T	7: 63,918,252 (GRCm39)	T531S	probably benign	Het
Tspan32	T	A	7: 142,572,479 (GRCm39)	W172R	possibly damaging	Het
Urb1	A	T	16: 90,559,318 (GRCm39)		probably null	Het
Vmn2r70	T	A	7: 85,208,276 (GRCm39)	I734F	probably damaging	Het
Vwa7	A	G	17: 35,243,175 (GRCm39)	T618A	probably benign	Het
Wac	T	A	18: 7,920,163 (GRCm39)	V339E	probably damaging	Het
Wrn	G	A	8: 33,833,024 (GRCm39)	T156M	probably damaging	Het
Zeb1	T	A	18: 5,770,498 (GRCm39)	C884S	probably damaging	Het
Zfp747l1	T	C	7: 126,984,214 (GRCm39)		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
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'- GACACTGGACTGCTAAAGGC -3'
(R):5'- GGTCAGTGTTCTTGACTAAATGC -3'

Sequencing Primer
(F):5'- ACTGCTAAAGGCTGGCAC -3'
(R):5'- CAGTGTTCTTGACTAAATGCAAAAC -3'

Posted On

2018-05-24