Mutagenetix > Incidental Mutation

Incidental Mutation 'R5650:Zmpste24'

441354

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

043296-MU

Accession Numbers

Essential gene?

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

Stock #

R5650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120940074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 191 (I191F)

Ref Sequence

ENSEMBL: ENSMUSP00000053900 (fasta)

Gene Model

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

AlphaFold

Q80W54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058754
AA Change: I191F

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: I191F

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

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 96.0%

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
Alms1	T	C	6: 85,597,253 (GRCm39)	L693P	probably damaging	Het
Ankrd11	T	C	8: 123,614,136 (GRCm39)	T2524A	probably damaging	Het
Cdr2	A	G	7: 120,557,559 (GRCm39)	I322T	probably damaging	Het
Cep76	A	T	18: 67,758,136 (GRCm39)	C385S	probably damaging	Het
Cercam	C	T	2: 29,771,827 (GRCm39)	S549F	probably damaging	Het
Coro1b	C	T	19: 4,200,610 (GRCm39)	T209I	possibly damaging	Het
Dlec1	G	T	9: 118,972,662 (GRCm39)	E1462*	probably null	Het
Dlgap5	C	T	14: 47,649,196 (GRCm39)	G166D	probably benign	Het
Ep400	C	T	5: 110,843,818 (GRCm39)		probably null	Het
Fam3d	A	T	14: 8,357,142 (GRCm38)	V96E	probably damaging	Het
Fgr	T	G	4: 132,727,533 (GRCm39)	V478G	probably benign	Het
Fmo9	T	A	1: 166,491,015 (GRCm39)	I437F	probably damaging	Het
Gabrd	A	T	4: 155,473,081 (GRCm39)	V64E	probably damaging	Het
Gsap	A	G	5: 21,456,051 (GRCm39)	Y385C	probably damaging	Het
H4c4	A	T	13: 23,765,778 (GRCm39)	N65I	possibly damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Helz	T	A	11: 107,485,972 (GRCm39)	M127K	probably null	Het
Hsp90b1	G	A	10: 86,529,367 (GRCm39)	A310V	probably damaging	Het
Hspa4	T	C	11: 53,155,919 (GRCm39)	Y662C	probably damaging	Het
Kif7	C	T	7: 79,360,727 (GRCm39)	R216H	probably damaging	Het
Klhl33	A	G	14: 51,129,285 (GRCm39)	I648T	probably benign	Het
Knl1	T	A	2: 118,912,031 (GRCm39)	L1716*	probably null	Het
Lgals9	T	A	11: 78,863,980 (GRCm39)	N55I	probably damaging	Het
Lmo7	A	T	14: 102,136,110 (GRCm39)	T606S	probably damaging	Het
Mdn1	A	G	4: 32,667,467 (GRCm39)		probably null	Het
Mip	A	T	10: 128,061,934 (GRCm39)	I62F	possibly damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Npepl1	T	C	2: 173,963,329 (GRCm39)	F454L	possibly damaging	Het
Or10h28	A	T	17: 33,487,858 (GRCm39)	E53D	probably benign	Het
Or1j21	T	A	2: 36,683,277 (GRCm39)	S10T	probably benign	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or8b1b	A	T	9: 38,376,023 (GRCm39)	K229*	probably null	Het
Oxct1	T	A	15: 4,172,332 (GRCm39)	V466D	probably damaging	Het
Piezo2	T	A	18: 63,144,792 (GRCm39)	I2768F	probably damaging	Het
Pitpnm1	C	A	19: 4,153,319 (GRCm39)	D158E	possibly damaging	Het
Plekho2	T	C	9: 65,464,018 (GRCm39)	N277S	probably benign	Het
Rab33b	T	C	3: 51,400,837 (GRCm39)	Y104H	probably damaging	Het
Rpap1	T	C	2: 119,604,331 (GRCm39)	S473G	probably benign	Het
Serpina1b	T	A	12: 103,694,694 (GRCm39)		probably null	Het
Slc25a17	A	T	15: 81,213,377 (GRCm39)		probably null	Het
Slc43a2	T	C	11: 75,436,633 (GRCm39)	C160R	probably damaging	Het
Slc7a4	G	T	16: 17,393,548 (GRCm39)	L84M	possibly damaging	Het
Slco1a4	T	A	6: 141,755,120 (GRCm39)	I561F	possibly damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Specc1	T	C	11: 62,008,793 (GRCm39)	I183T	probably damaging	Het
Sucla2	A	G	14: 73,828,569 (GRCm39)	K362E	probably benign	Het
Tcf12	A	T	9: 71,792,584 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,658 (GRCm39)	P215S	probably benign	Het
Tmem41b	A	G	7: 109,574,072 (GRCm39)	S198P	probably damaging	Het
Tubgcp3	A	G	8: 12,698,670 (GRCm39)	F427S	probably damaging	Het
Wdr81	T	A	11: 75,335,574 (GRCm39)	S1752C	probably damaging	Het
Zbtb7a	A	G	10: 80,980,883 (GRCm39)	Y359C	probably damaging	Het
Zfp37	T	C	4: 62,110,002 (GRCm39)	Y354C	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
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
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'- TCAAGAATAAGAGGCCATGAGTTTG -3'
(R):5'- ATTGTCCTAGGCTGCCTACC -3'

Sequencing Primer
(F):5'- CCATGAGTTTGAGAGGGAGTG -3'
(R):5'- AGGCTGCCTACCTTATGTTCTTTAAG -3'

Posted On

2016-11-08