Mutagenetix > Incidental Mutation

Incidental Mutation 'R5169:Zmpste24'

397430

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

042749-MU

Accession Numbers

Essential gene?

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

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120925914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 351 (I351N)

Ref Sequence

ENSEMBL: ENSMUSP00000053900 (fasta)

Gene Model

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

AlphaFold

Q80W54

Predicted Effect

probably damaging
Transcript: ENSMUST00000058754
AA Change: I351N

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

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: I351N

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

noncoding transcript
Transcript: ENSMUST00000143768

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,841,552 (GRCm39)	Y964*	probably null	Het
Acsbg2	T	C	17: 57,156,913 (GRCm39)	K375R	probably benign	Het
Ago4	C	A	4: 126,405,520 (GRCm39)	R415L	probably benign	Het
Alpk1	A	T	3: 127,464,750 (GRCm39)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,440,252 (GRCm39)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,980,051 (GRCm39)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,052,413 (GRCm39)	M299L	probably benign	Het
Ddx54	C	A	5: 120,761,328 (GRCm39)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,102,994 (GRCm39)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dop1a	T	C	9: 86,415,074 (GRCm39)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ints7	T	C	1: 191,345,202 (GRCm39)	F631L	probably benign	Het
Itih1	A	T	14: 30,655,403 (GRCm39)	Y597*	probably null	Het
Kctd1	T	C	18: 15,195,822 (GRCm39)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,284,329 (GRCm39)	T185A	probably benign	Het
Maco1	T	C	4: 134,555,774 (GRCm39)	H233R	probably benign	Het
Masp2	T	C	4: 148,690,571 (GRCm39)	I276T	probably damaging	Het
Med17	A	T	9: 15,188,900 (GRCm39)	F122I	probably benign	Het
Milr1	C	T	11: 106,645,754 (GRCm39)	R99*	probably null	Het
Mpp4	T	C	1: 59,169,256 (GRCm39)		probably null	Het
Ms4a4d	C	T	19: 11,535,340 (GRCm39)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,650,818 (GRCm39)	N1100S	probably benign	Het
Myom3	T	C	4: 135,502,889 (GRCm39)	I322T	probably benign	Het
Nav2	C	T	7: 49,198,231 (GRCm39)	Q1287*	probably null	Het
Nr3c2	A	T	8: 77,635,666 (GRCm39)	N256Y	probably damaging	Het
Nrde2	A	G	12: 100,095,552 (GRCm39)		probably null	Het
Otog	G	T	7: 45,947,572 (GRCm39)	A2242S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,710,415 (GRCm39)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 80,005,095 (GRCm39)	P880S	probably benign	Het
Pcid2	A	G	8: 13,129,632 (GRCm39)		probably null	Het
Phkb	A	G	8: 86,623,120 (GRCm39)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,555,360 (GRCm39)	S1106P	probably benign	Het
Pnpla7	A	T	2: 24,940,321 (GRCm39)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,814,930 (GRCm39)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,223,196 (GRCm39)	A267V	probably damaging	Het
Psg29	C	T	7: 16,945,578 (GRCm39)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,295,324 (GRCm39)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,401,254 (GRCm39)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,783,949 (GRCm39)	N92K	probably benign	Het
Rragc	A	G	4: 123,829,457 (GRCm39)	N391S	probably damaging	Het
Ryr3	C	T	2: 112,501,005 (GRCm39)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,286,126 (GRCm39)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm39)	Y1014F	possibly damaging	Het
Slc24a3	G	A	2: 145,482,184 (GRCm39)	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,864,309 (GRCm39)	S486P	probably damaging	Het
Spi1	A	T	2: 90,945,428 (GRCm39)	K170*	probably null	Het
Srgn	C	A	10: 62,330,866 (GRCm39)	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,504,857 (GRCm39)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,982,945 (GRCm39)	K134*	probably null	Het
Szt2	T	C	4: 118,247,027 (GRCm39)	T863A	probably benign	Het
Tcea3	A	T	4: 135,992,181 (GRCm39)		probably null	Het
Tg	T	A	15: 66,550,629 (GRCm39)	L253*	probably null	Het
Timm8a2	T	A	14: 122,272,138 (GRCm39)	S14T	probably benign	Het
Tppp3	G	C	8: 106,194,501 (GRCm39)	N166K	probably benign	Het
Trav2	G	A	14: 52,804,759 (GRCm39)	V4M	probably benign	Het
Trmt5	T	C	12: 73,329,495 (GRCm39)	D221G	probably damaging	Het
Ttc27	T	A	17: 75,054,690 (GRCm39)	L332*	probably null	Het
V1rd19	A	G	7: 23,703,209 (GRCm39)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,274,184 (GRCm39)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,657,515 (GRCm39)	N185I	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
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'- CTGGGTCTCCTGAGCTCTTAAG -3'
(R):5'- TTGATTAGATGGGTCAAGGCTAAAG -3'

Sequencing Primer
(F):5'- GACACATTTCTGAGTTTGACGCCAG -3'
(R):5'- ATGGGTCAAGGCTAAAGATATAAATG -3'

Posted On

2016-07-06