Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01649:Ppm1n'

102787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1n

Ensembl Gene

ENSMUSG00000030402

Gene Name

protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL01649

Quality Score

Status

Chromosome

Chromosomal Location

19010730-19013989 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 19012122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032559] [ENSMUST00000032560]

AlphaFold

Q8BGL1

Predicted Effect

probably benign
Transcript: ENSMUST00000032559

SMART Domains

Protein: ENSMUSP00000032559
Gene: ENSMUSG00000030401

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	70	85	N/A	INTRINSIC
low complexity region	119	144	N/A	INTRINSIC
Pfam:Reticulon	272	436	2.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032560

SMART Domains

Protein: ENSMUSP00000032560
Gene: ENSMUSG00000030402

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
PP2Cc	49	317	2.02e-82	SMART
PP2C_SIG	72	319	1.08e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209186

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,217,116 (GRCm39)	S220P	probably benign	Het
Adam18	T	C	8: 25,104,912 (GRCm39)	N634S	possibly damaging	Het
Arhgef18	T	A	8: 3,491,211 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,911,541 (GRCm39)	S1518G	probably benign	Het
Cltc	A	G	11: 86,617,226 (GRCm39)	V341A	probably benign	Het
Dlg5	A	G	14: 24,188,759 (GRCm39)	V1721A	probably damaging	Het
Dnah10	A	T	5: 124,809,553 (GRCm39)	I274F	probably damaging	Het
Dock1	T	A	7: 134,379,139 (GRCm39)	L622Q	probably damaging	Het
Dysf	A	G	6: 84,176,821 (GRCm39)	D1960G	probably damaging	Het
Fat3	T	C	9: 16,288,015 (GRCm39)	T503A	possibly damaging	Het
Glb1	A	G	9: 114,253,016 (GRCm39)	Y73C	probably damaging	Het
Gm9396	G	T	3: 129,862,268 (GRCm39)		noncoding transcript	Het
Gml2	G	T	15: 74,696,070 (GRCm39)	E155*	probably null	Het
Ikzf4	G	A	10: 128,471,689 (GRCm39)	R323C	probably damaging	Het
Kiz	A	G	2: 146,731,229 (GRCm39)	T240A	probably benign	Het
Lzts3	T	C	2: 130,477,351 (GRCm39)	K480E	probably damaging	Het
Mcm7	T	C	5: 138,167,698 (GRCm39)	H105R	probably damaging	Het
Mpdz	A	G	4: 81,221,870 (GRCm39)	L1464P	probably damaging	Het
Mrgpra9	A	C	7: 46,884,900 (GRCm39)	L256V	probably benign	Het
Mrpl40	T	C	16: 18,691,329 (GRCm39)	Q127R	probably benign	Het
Myom2	G	T	8: 15,163,755 (GRCm39)	R1003L	probably benign	Het
Nav2	A	G	7: 49,225,477 (GRCm39)	T1806A	probably damaging	Het
Or10x4	T	C	1: 174,218,974 (GRCm39)	L113P	probably damaging	Het
Pibf1	A	T	14: 99,425,199 (GRCm39)	Y562F	possibly damaging	Het
Potefam1	A	T	2: 111,044,921 (GRCm39)		probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Septin8	T	A	11: 53,425,855 (GRCm39)	F143I	possibly damaging	Het
Sestd1	A	G	2: 77,029,389 (GRCm39)	Y330H	probably damaging	Het
Sntg1	C	T	1: 8,752,193 (GRCm39)		probably benign	Het
Stpg2	C	A	3: 139,125,623 (GRCm39)	P472Q	probably damaging	Het
Thbs1	A	G	2: 117,945,463 (GRCm39)	K314R	probably benign	Het
Vav3	T	C	3: 109,470,078 (GRCm39)	Y508H	probably benign	Het

Other mutations in Ppm1n

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Ppm1n	APN	7	19,012,109 (GRCm39)	missense	probably benign	0.00
IGL01338:Ppm1n	APN	7	19,013,179 (GRCm39)	missense	probably benign	0.04
IGL02388:Ppm1n	APN	7	19,013,097 (GRCm39)	missense	probably damaging	1.00
R0320:Ppm1n	UTSW	7	19,012,281 (GRCm39)	missense	probably damaging	0.98
R2153:Ppm1n	UTSW	7	19,012,110 (GRCm39)	missense	probably damaging	0.98
R5099:Ppm1n	UTSW	7	19,011,903 (GRCm39)	missense	possibly damaging	0.95
R7060:Ppm1n	UTSW	7	19,013,187 (GRCm39)	missense	probably damaging	1.00
R7167:Ppm1n	UTSW	7	19,013,666 (GRCm39)	missense	probably damaging	1.00
R8316:Ppm1n	UTSW	7	19,012,302 (GRCm39)	missense	probably damaging	1.00
Z1176:Ppm1n	UTSW	7	19,013,170 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21