Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00434:Pm20d1'

7376

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pm20d1

Ensembl Gene

ENSMUSG00000042251

Gene Name

peptidase M20 domain containing 1

Synonyms

4732466D17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL00434

Quality Score

Status

Chromosome

Chromosomal Location

131725122-131749210 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 131741738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048660] [ENSMUST00000112393]

AlphaFold

Q8C165

Predicted Effect

probably benign
Transcript: ENSMUST00000048660

SMART Domains

Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Peptidase_M20	121	489	3.5e-34	PFAM
Pfam:M20_dimer	240	389	5.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112393

SMART Domains

Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Peptidase_M20	121	489	7e-33	PFAM
Pfam:M20_dimer	240	389	5.7e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132450

Predicted Effect

probably benign
Transcript: ENSMUST00000152989

SMART Domains

Protein: ENSMUSP00000116936
Gene: ENSMUSG00000042251

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M20	2	85	6.9e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,269,181 (GRCm39)	V1098A	probably damaging	Het
Bltp1	T	C	3: 37,041,448 (GRCm39)	F2609L	probably damaging	Het
Ccdc126	C	T	6: 49,311,239 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,135,271 (GRCm39)	L54P	probably damaging	Het
Cdsn	A	T	17: 35,865,740 (GRCm39)	S90C	unknown	Het
Clcn6	G	T	4: 148,098,195 (GRCm39)	D581E	probably damaging	Het
Clec4f	T	A	6: 83,630,198 (GRCm39)	H120L	possibly damaging	Het
Col12a1	T	C	9: 79,560,614 (GRCm39)	T1838A	probably benign	Het
Col22a1	T	C	15: 71,878,524 (GRCm39)	D211G	possibly damaging	Het
Cpne8	T	C	15: 90,381,261 (GRCm39)		probably benign	Het
Dgkk	T	A	X: 6,772,697 (GRCm39)	M462K	probably benign	Het
Dhx29	T	A	13: 113,091,759 (GRCm39)	H834Q	probably benign	Het
Esyt1	A	G	10: 128,353,504 (GRCm39)	Y578H	possibly damaging	Het
Fnip2	C	A	3: 79,419,796 (GRCm39)		probably benign	Het
Fut1	T	G	7: 45,268,855 (GRCm39)	C270G	probably damaging	Het
Ganab	T	A	19: 8,884,707 (GRCm39)	V170D	probably damaging	Het
Gys1	T	A	7: 45,094,256 (GRCm39)	M364K	possibly damaging	Het
Ighv1-85	A	C	12: 115,963,654 (GRCm39)	C115W	probably damaging	Het
Igkv4-74	T	G	6: 69,162,044 (GRCm39)	T42P	probably damaging	Het
Jmjd4	A	G	11: 59,341,321 (GRCm39)	Y84C	probably damaging	Het
Kif11	A	C	19: 37,399,857 (GRCm39)	E781D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Klf1	C	T	8: 85,628,628 (GRCm39)	P9S	possibly damaging	Het
Lrrn3	T	C	12: 41,502,191 (GRCm39)		probably benign	Het
Ltbp4	C	A	7: 27,028,230 (GRCm39)	R309L	probably damaging	Het
Marchf10	T	C	11: 105,293,014 (GRCm39)	E131G	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mgme1	T	A	2: 144,121,056 (GRCm39)		probably benign	Het
Nkiras2	G	A	11: 100,515,808 (GRCm39)	G45D	probably damaging	Het
Orc2	A	T	1: 58,532,875 (GRCm39)	D16E	possibly damaging	Het
Pcyox1l	T	C	18: 61,830,613 (GRCm39)	T420A	probably benign	Het
Pira13	C	A	7: 3,826,088 (GRCm39)	G302C	probably damaging	Het
Ppp1r3c	T	C	19: 36,711,503 (GRCm39)	D89G	probably damaging	Het
Ppp2ca	G	A	11: 52,012,776 (GRCm39)	R302H	probably benign	Het
Riok3	T	C	18: 12,281,904 (GRCm39)	V291A	probably damaging	Het
Rragd	A	G	4: 33,007,219 (GRCm39)		probably benign	Het
Scai	C	A	2: 38,998,406 (GRCm39)	L174F	probably damaging	Het
Slc25a44	T	C	3: 88,323,369 (GRCm39)	I227V	probably benign	Het
Slc35f1	T	C	10: 52,938,548 (GRCm39)	L160P	probably damaging	Het
Slc38a1	A	G	15: 96,483,504 (GRCm39)	Y275H	possibly damaging	Het
Slco6b1	A	G	1: 96,916,375 (GRCm39)		noncoding transcript	Het
Spag8	G	T	4: 43,652,890 (GRCm39)	C190*	probably null	Het
Tbr1	T	C	2: 61,635,625 (GRCm39)	F192L	probably benign	Het
Tti1	C	T	2: 157,850,886 (GRCm39)	E118K	probably damaging	Het
Tti1	T	A	2: 157,850,885 (GRCm39)	E118V	probably damaging	Het
Vcan	G	T	13: 89,852,821 (GRCm39)	P713Q	probably damaging	Het
Vcf2	A	T	X: 149,181,395 (GRCm39)	V132E	possibly damaging	Het
Wt1	G	T	2: 104,974,486 (GRCm39)		probably null	Het
Xylt1	T	A	7: 117,249,912 (GRCm39)	I694N	probably damaging	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Pm20d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Pm20d1	APN	1	131,729,497 (GRCm39)	nonsense	probably null
IGL02684:Pm20d1	APN	1	131,732,697 (GRCm39)	missense	probably benign	0.01
R1725:Pm20d1	UTSW	1	131,743,796 (GRCm39)	missense	probably damaging	1.00
R1808:Pm20d1	UTSW	1	131,730,165 (GRCm39)	missense	probably benign	0.02
R2010:Pm20d1	UTSW	1	131,739,852 (GRCm39)	missense	probably benign	0.02
R4663:Pm20d1	UTSW	1	131,726,340 (GRCm39)	missense	probably damaging	1.00
R4790:Pm20d1	UTSW	1	131,739,777 (GRCm39)	missense	probably benign	0.08
R5211:Pm20d1	UTSW	1	131,734,647 (GRCm39)	missense	possibly damaging	0.90
R5578:Pm20d1	UTSW	1	131,743,760 (GRCm39)	missense	probably benign	0.01
R6314:Pm20d1	UTSW	1	131,743,754 (GRCm39)	missense	possibly damaging	0.82
R6410:Pm20d1	UTSW	1	131,726,334 (GRCm39)	missense	probably benign	0.30
R6880:Pm20d1	UTSW	1	131,731,839 (GRCm39)	missense	probably benign	0.00
R7128:Pm20d1	UTSW	1	131,725,292 (GRCm39)	missense	probably benign	0.01
R8088:Pm20d1	UTSW	1	131,729,501 (GRCm39)	missense	probably benign	0.37
R8922:Pm20d1	UTSW	1	131,728,853 (GRCm39)	missense	possibly damaging	0.94
R8942:Pm20d1	UTSW	1	131,739,785 (GRCm39)	missense	possibly damaging	0.93
R9026:Pm20d1	UTSW	1	131,739,822 (GRCm39)	missense	probably benign	0.04
R9093:Pm20d1	UTSW	1	131,743,753 (GRCm39)	missense	probably benign	0.16
R9094:Pm20d1	UTSW	1	131,730,481 (GRCm39)	missense	possibly damaging	0.69
R9165:Pm20d1	UTSW	1	131,743,825 (GRCm39)	missense	possibly damaging	0.64
R9189:Pm20d1	UTSW	1	131,730,115 (GRCm39)	missense	probably damaging	1.00
R9562:Pm20d1	UTSW	1	131,730,501 (GRCm39)	missense	probably damaging	0.99
Z1176:Pm20d1	UTSW	1	131,725,296 (GRCm39)	missense	possibly damaging	0.89
Z1177:Pm20d1	UTSW	1	131,729,006 (GRCm39)	missense	probably benign	0.15

Posted On

2012-04-20