Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00429:Pm20d2'

6697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pm20d2

Ensembl Gene

ENSMUSG00000054659

Gene Name

peptidase M20 domain containing 2

Synonyms

LOC242377, Acy1l2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

33174230-33189737 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 33187205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098181] [ENSMUST00000119167]

AlphaFold

A3KG59

Predicted Effect

probably benign
Transcript: ENSMUST00000098181

SMART Domains

Protein: ENSMUSP00000095783
Gene: ENSMUSG00000054659

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	126	141	N/A	INTRINSIC
Pfam:M20_dimer	199	297	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119167

SMART Domains

Protein: ENSMUSP00000113669
Gene: ENSMUSG00000054659

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	126	141	N/A	INTRINSIC
Pfam:M20_dimer	199	297	5.4e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009J07Rik	G	A	10: 77,729,673 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,040,983 (GRCm39)	L38P	probably damaging	Het
Abca1	A	G	4: 53,059,255 (GRCm39)		probably null	Het
Abca15	T	A	7: 119,996,277 (GRCm39)	I1401N	probably damaging	Het
Adam3	A	C	8: 25,184,294 (GRCm39)	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,555,192 (GRCm39)	S458G	probably damaging	Het
Asxl3	C	T	18: 22,658,280 (GRCm39)	P2097S	probably benign	Het
AW551984	T	C	9: 39,504,145 (GRCm39)	D607G	probably benign	Het
Ccdc158	C	A	5: 92,805,740 (GRCm39)	M338I	probably benign	Het
Cdh23	A	G	10: 60,256,920 (GRCm39)	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,448 (GRCm39)	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,432,171 (GRCm39)		probably benign	Het
Dus4l	A	G	12: 31,691,668 (GRCm39)	V180A	probably benign	Het
Dysf	A	T	6: 84,166,826 (GRCm39)	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,340 (GRCm39)	L141Q	probably damaging	Het
Fhod3	A	G	18: 25,127,597 (GRCm39)	E313G	probably damaging	Het
Gm4884	A	G	7: 40,693,809 (GRCm39)	T593A	probably benign	Het
H2bc14	T	C	13: 21,906,310 (GRCm39)	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,537,812 (GRCm39)	E526K	possibly damaging	Het
Lama4	A	T	10: 38,887,022 (GRCm39)	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,690,557 (GRCm39)	Q48P	probably damaging	Het
Magi3	T	A	3: 103,922,294 (GRCm39)	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,714,109 (GRCm39)	F237L	probably damaging	Het
Mst1r	A	T	9: 107,790,449 (GRCm39)		probably benign	Het
Mtcl2	A	C	2: 156,872,784 (GRCm39)	F909C	probably damaging	Het
Myh2	C	T	11: 67,071,616 (GRCm39)	Q478*	probably null	Het
Mylip	C	A	13: 45,562,043 (GRCm39)	P282T	probably benign	Het
Mymk	T	C	2: 26,952,799 (GRCm39)	Y103C	probably damaging	Het
Necab1	A	T	4: 15,052,656 (GRCm39)	N107K	probably damaging	Het
Pclo	T	C	5: 14,730,753 (GRCm39)		probably benign	Het
Phgdh	T	C	3: 98,235,631 (GRCm39)	K129E	probably damaging	Het
Plxna4	T	C	6: 32,139,026 (GRCm39)	Y1714C	probably damaging	Het
Ppfibp2	A	G	7: 107,296,801 (GRCm39)	T172A	probably benign	Het
Prkca	T	C	11: 108,234,334 (GRCm39)	T54A	probably benign	Het
Prlr	A	G	15: 10,328,410 (GRCm39)	D295G	probably benign	Het
Rdh12	A	G	12: 79,258,176 (GRCm39)	I68V	probably benign	Het
Slc14a2	A	G	18: 78,193,653 (GRCm39)	F850L	possibly damaging	Het
Smad2	A	T	18: 76,431,566 (GRCm39)	S185C	possibly damaging	Het
Trav13n-4	T	A	14: 53,601,288 (GRCm39)	L19Q	probably benign	Het
Ush2a	T	A	1: 188,132,311 (GRCm39)	C844*	probably null	Het
Vwce	T	A	19: 10,641,875 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,518,709 (GRCm39)		probably benign	Het
Zfp143	T	C	7: 109,690,979 (GRCm39)	I510T	probably damaging	Het
Zfp930	G	T	8: 69,680,634 (GRCm39)	K90N	probably damaging	Het

Other mutations in Pm20d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03184:Pm20d2	APN	4	33,179,241 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Pm20d2	UTSW	4	33,183,152 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Pm20d2	UTSW	4	33,181,715 (GRCm39)	missense	probably damaging	0.99
PIT4791001:Pm20d2	UTSW	4	33,174,756 (GRCm39)	missense	probably benign	0.09
R0594:Pm20d2	UTSW	4	33,181,746 (GRCm39)	missense	probably damaging	0.99
R0973:Pm20d2	UTSW	4	33,174,734 (GRCm39)	splice site	probably benign
R1584:Pm20d2	UTSW	4	33,174,772 (GRCm39)	missense	probably damaging	1.00
R3850:Pm20d2	UTSW	4	33,174,414 (GRCm39)	missense	probably damaging	0.96
R4831:Pm20d2	UTSW	4	33,179,293 (GRCm39)	missense	probably damaging	1.00
R5166:Pm20d2	UTSW	4	33,181,803 (GRCm39)	missense	probably benign
R6025:Pm20d2	UTSW	4	33,181,833 (GRCm39)	missense	probably damaging	0.98
R7030:Pm20d2	UTSW	4	33,174,752 (GRCm39)	missense	possibly damaging	0.65
R7109:Pm20d2	UTSW	4	33,187,186 (GRCm39)	missense	probably damaging	1.00
R8335:Pm20d2	UTSW	4	33,189,245 (GRCm39)	missense	probably benign	0.01
Z1177:Pm20d2	UTSW	4	33,181,687 (GRCm39)	missense	possibly damaging	0.95

Posted On

2012-04-20