Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Pm20d1'

552431

Institutional Source

Beutler Lab

Gene Symbol

Pm20d1

Ensembl Gene

ENSMUSG00000042251

Gene Name

peptidase M20 domain containing 1

Synonyms

4732466D17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131725122-131749210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131725292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 46 (E46G)

Ref Sequence

ENSEMBL: ENSMUSP00000046079 (fasta)

Gene Model

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

AlphaFold

Q8C165

Predicted Effect

probably benign
Transcript: ENSMUST00000048660
AA Change: E46G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: E46G

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
AA Change: E46G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: E46G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,347,985 (GRCm39)	D25G	probably benign	Het
Ak9	T	C	10: 41,300,713 (GRCm39)	V1641A	unknown	Het
Akirin2	T	C	4: 34,562,435 (GRCm39)	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,540,361 (GRCm39)	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,326,971 (GRCm39)	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,553,063 (GRCm39)	R93*	probably null	Het
Brd10	T	C	19: 29,693,881 (GRCm39)	T1871A	possibly damaging	Het
Catsper3	A	G	13: 55,946,662 (GRCm39)	I120V	probably benign	Het
Cavin2	A	G	1: 51,328,579 (GRCm39)	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,417,188 (GRCm39)	F39Y	probably damaging	Het
Chfr	T	C	5: 110,291,502 (GRCm39)	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Defb4	T	A	8: 19,251,220 (GRCm39)	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,566,645 (GRCm39)	T619A	probably benign	Het
Duxf1	T	C	10: 58,059,479 (GRCm39)	Q425R	unknown	Het
Emc3	A	G	6: 113,494,881 (GRCm39)	L179P	probably damaging	Het
Eno3	G	C	11: 70,549,430 (GRCm39)	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,812,642 (GRCm39)	V43M	probably damaging	Het
Fbxo30	T	A	10: 11,165,860 (GRCm39)	L194*	probably null	Het
Galnt14	T	C	17: 73,852,096 (GRCm39)	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601 (GRCm39)	I51T	probably benign	Het
Gm1527	C	T	3: 28,969,460 (GRCm39)	S270F	possibly damaging	Het
Gm3336	A	G	8: 71,171,203 (GRCm39)	M1V	probably null	Het
Gm4744	T	C	6: 40,927,310 (GRCm39)	D15G		Het
Gm4924	G	A	10: 82,214,533 (GRCm39)	C777Y	unknown	Het
Gm5901	G	A	7: 105,027,408 (GRCm39)	G306S	probably damaging	Het
Gon4l	T	A	3: 88,802,999 (GRCm39)	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,138,026 (GRCm39)	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,236,326 (GRCm39)	E1285G	probably benign	Het
Irx6	T	C	8: 93,403,994 (GRCm39)	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,322,089 (GRCm39)	Y117H	probably benign	Het
Itln1	C	A	1: 171,358,143 (GRCm39)	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,975,972 (GRCm39)	S242P	probably benign	Het
Lrrk2	A	G	15: 91,686,088 (GRCm39)	H2143R	probably benign	Het
Lynx1	G	A	15: 74,623,398 (GRCm39)	R50*	probably null	Het
Lypd11	C	T	7: 24,425,424 (GRCm39)		probably null	Het
Map10	A	G	8: 126,398,592 (GRCm39)	I662V	probably benign	Het
Mlxipl	T	C	5: 135,162,705 (GRCm39)	L691P	probably damaging	Het
Muc16	A	G	9: 18,554,300 (GRCm39)	S3998P	unknown	Het
Nalcn	A	T	14: 123,831,914 (GRCm39)	V120E	probably damaging	Het
Nfat5	T	C	8: 108,085,323 (GRCm39)	S539P	probably benign	Het
Olfml3	T	C	3: 103,644,484 (GRCm39)	M62V	probably benign	Het
Orm3	T	C	4: 63,276,062 (GRCm39)	V158A	probably benign	Het
Pakap	T	C	4: 57,855,816 (GRCm39)	S382P	probably benign	Het
Pced1b	A	T	15: 97,282,479 (GRCm39)	K173*	probably null	Het
Pdzd7	T	C	19: 45,016,388 (GRCm39)	D911G	probably damaging	Het
Pkn3	A	G	2: 29,973,327 (GRCm39)	D383G	probably damaging	Het
Pyroxd2	A	T	19: 42,719,842 (GRCm39)	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,515,364 (GRCm39)	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,661,911 (GRCm39)	N30S	probably benign	Het
Shisal2a	G	T	4: 108,225,100 (GRCm39)	T154K	probably benign	Het
Slfn3	T	A	11: 83,105,721 (GRCm39)	C573S	probably benign	Het
Smc6	A	G	12: 11,351,632 (GRCm39)	E887G	probably damaging	Het
Sp140	A	T	1: 85,547,846 (GRCm39)	D191V	possibly damaging	Het
Srf	C	T	17: 46,866,372 (GRCm39)	S128N	possibly damaging	Het
Sult6b1	T	C	17: 79,202,070 (GRCm39)	D144G	probably damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Syt10	A	T	15: 89,698,314 (GRCm39)	D343E	probably damaging	Het
Tgtp2	G	A	11: 48,950,135 (GRCm39)	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,266,496 (GRCm39)		probably benign	Het
Tnfrsf1a	A	T	6: 125,338,499 (GRCm39)	T337S	probably benign	Het
Tns1	A	T	1: 74,034,463 (GRCm39)	I144N		Het
Trim11	A	G	11: 58,869,103 (GRCm39)	E13G	probably damaging	Het
Trpm6	A	T	19: 18,789,137 (GRCm39)	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,576,569 (GRCm39)	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,820,936 (GRCm39)	N169K	probably damaging	Het
Vmn2r60	C	T	7: 41,844,536 (GRCm39)	T633I	probably damaging	Het
Wt1	T	C	2: 104,957,670 (GRCm39)	Y177H	probably benign	Het

Other mutations in Pm20d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Pm20d1	APN	1	131,741,738 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGATTGGTCAGCAGCGAGTC -3'
(R):5'- CTAGGCAAGGGATTACCGAC -3'

Sequencing Primer
(F):5'- GGCTATTAGGTCCAAACTCTAGC -3'
(R):5'- CGCAAGTGCTAGACCAGTG -3'

Posted On

2019-05-15