Mutagenetix > Incidental Mutation

Incidental Mutation 'R9094:Pm20d1'

691185

Institutional Source

Beutler Lab

Gene Symbol

Pm20d1

Ensembl Gene

ENSMUSG00000042251

Gene Name

peptidase M20 domain containing 1

Synonyms

4732466D17Rik

MMRRC Submission

068909-MU

Accession Numbers

Essential gene?

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

Stock #

R9094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131725122-131749210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 131730481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 245 (A245D)

Ref Sequence

ENSEMBL: ENSMUSP00000046079 (fasta)

Gene Model

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

AlphaFold

Q8C165

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048660
AA Change: A245D

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: A245D

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

possibly damaging
Transcript: ENSMUST00000112393
AA Change: A245D

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: A245D

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110021N24Rik	T	C	4: 108,637,744 (GRCm39)	V37A	unknown	Het
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abi3bp	A	G	16: 56,456,590 (GRCm39)	I1021V	probably benign	Het
Agrn	C	A	4: 156,253,264 (GRCm39)	K1848N	probably benign	Het
Anln	A	G	9: 22,249,283 (GRCm39)	V1005A	probably benign	Het
Arb2a	A	G	13: 78,311,725 (GRCm39)	K356R	possibly damaging	Het
Arid3b	A	G	9: 57,741,327 (GRCm39)	Y40H	probably damaging	Het
Bco1	A	C	8: 117,859,917 (GRCm39)	D540A	probably benign	Het
Blnk	A	G	19: 40,982,482 (GRCm39)	I7T	probably benign	Het
Brca2	T	G	5: 150,475,770 (GRCm39)	D2493E	probably benign	Het
Bsn	T	A	9: 107,988,052 (GRCm39)	M2567L	unknown	Het
Cacna1e	T	A	1: 154,355,064 (GRCm39)	Y693F	possibly damaging	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Cpa4	G	T	6: 30,574,393 (GRCm39)	D61Y	possibly damaging	Het
Cpne1	A	C	2: 155,921,080 (GRCm39)	V70G	probably damaging	Het
Dnase1l3	A	T	14: 7,987,306 (GRCm38)	N81K	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fbxo34	C	G	14: 47,767,928 (GRCm39)	H480Q	probably benign	Het
Frmd4b	T	C	6: 97,398,559 (GRCm39)	E96G		Het
Gdpgp1	T	A	7: 79,888,216 (GRCm39)	D82E	probably benign	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Grpel1	A	G	5: 36,626,823 (GRCm39)	N35S	probably benign	Het
Il12rb1	A	G	8: 71,273,291 (GRCm39)	T665A	possibly damaging	Het
Il16	T	C	7: 83,301,559 (GRCm39)	T886A	probably benign	Het
Insig1	T	A	5: 28,278,570 (GRCm39)	C128*	probably null	Het
Kcnk10	T	A	12: 98,484,775 (GRCm39)	E120D	probably benign	Het
Kctd1	T	C	18: 15,195,369 (GRCm39)	N418S	possibly damaging	Het
Kifbp	A	G	10: 62,395,037 (GRCm39)	V535A	probably damaging	Het
Klhl20	T	A	1: 160,933,055 (GRCm39)	H251L	probably damaging	Het
Ldlrad3	T	C	2: 101,888,326 (GRCm39)	D127G	probably damaging	Het
Lrp3	T	C	7: 34,903,182 (GRCm39)	Y388C	probably damaging	Het
Lrrc4	G	A	6: 28,830,206 (GRCm39)	R47W	possibly damaging	Het
Luzp1	A	T	4: 136,272,562 (GRCm39)	D1022V	probably damaging	Het
Mllt1	C	A	17: 57,212,737 (GRCm39)	R132L	probably damaging	Het
Ncoa1	G	T	12: 4,345,494 (GRCm39)	H618N	possibly damaging	Het
Nelfcd	T	C	2: 174,265,861 (GRCm39)	S318P	probably damaging	Het
Ngly1	A	C	14: 16,280,721 (GRCm38)	T301P	probably damaging	Het
Npy5r	G	A	8: 67,133,560 (GRCm39)	T411I	probably damaging	Het
Or55b10	T	C	7: 102,143,568 (GRCm39)	E138G	possibly damaging	Het
Or5d46	A	G	2: 88,170,248 (GRCm39)	N113S	probably benign	Het
Pcdha6	T	A	18: 37,101,593 (GRCm39)	I262N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Rars1	T	C	11: 35,718,182 (GRCm39)		probably benign	Het
Rbms2	T	A	10: 127,987,107 (GRCm39)	I62F	probably damaging	Het
Rev3l	A	T	10: 39,700,809 (GRCm39)	T1769S	probably benign	Het
Rexo1	A	G	10: 80,378,854 (GRCm39)	Y1061H	probably damaging	Het
Rgs3	A	T	4: 62,500,240 (GRCm39)	I26F	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtkn	A	T	6: 83,128,018 (GRCm39)	N406Y	possibly damaging	Het
Rtn4r	A	T	16: 17,969,708 (GRCm39)	I379F	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Slmap	T	C	14: 26,137,355 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,975,050 (GRCm39)	N519K	possibly damaging	Het
Srebf2	A	T	15: 82,056,975 (GRCm39)	I237F	possibly damaging	Het
Szt2	T	C	4: 118,242,651 (GRCm39)	S1479G	possibly damaging	Het
Tbc1d24	C	A	17: 24,400,274 (GRCm39)	E537*	probably null	Het
Ttf1	T	A	2: 28,957,080 (GRCm39)	I450K	probably benign	Het
Ube2e2	A	G	14: 18,893,288 (GRCm38)	S2P	unknown	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn2r25	C	T	6: 123,805,391 (GRCm39)	V489I	probably benign	Het
Wfdc8	C	T	2: 164,439,245 (GRCm39)	R379H	unknown	Het
Zeb2	C	T	2: 45,003,136 (GRCm39)		probably benign	Het
Zfp3	C	T	11: 70,663,241 (GRCm39)	T400I	probably benign	Het
Zfp760	T	C	17: 21,941,932 (GRCm39)	I369T	possibly damaging	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
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
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'- TCCTTTCAACATGCCCTGGG -3'
(R):5'- CTTCTCCCCAGGCCAATTTGAG -3'

Sequencing Primer
(F):5'- CCCTGGGCGTCTTCTGGTATTG -3'
(R):5'- GCACAGGCTGGTTCTTCAG -3'

Posted On

2021-12-30