Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01503:Plpp6'

88938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plpp6

Ensembl Gene

ENSMUSG00000040105

Gene Name

phospholipid phosphatase 6

Synonyms

Ppapdc2, 4932443D16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01503

Quality Score

Status

Chromosome

Chromosomal Location

28941353-28944211 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 28942279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 293 (*293W)

Ref Sequence

ENSEMBL: ENSMUSP00000047776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000045674] [ENSMUST00000160542] [ENSMUST00000161813] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]

AlphaFold

Q9D4F2

Predicted Effect

probably benign
Transcript: ENSMUST00000025872

SMART Domains

Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	1	91	1e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000045674
AA Change: *293W

SMART Domains

Protein: ENSMUSP00000047776
Gene: ENSMUSG00000040105
AA Change: *293W

Domain	Start	End	E-Value	Type
low complexity region	10	34	N/A	INTRINSIC
low complexity region	69	84	N/A	INTRINSIC
acidPPc	161	273	7.73e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160542

SMART Domains

Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	1	77	1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161813

Predicted Effect

probably benign
Transcript: ENSMUST00000162110

SMART Domains

Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	7	145	7.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164777

SMART Domains

Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	1	77	1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175647

SMART Domains

Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	6	78	4.5e-22	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	A	16: 88,971,757 (GRCm39)	Y26*	probably null	Het
Aadacl4fm4	T	A	4: 144,401,137 (GRCm39)	I116F	probably damaging	Het
Arpc1a	T	C	5: 145,032,964 (GRCm39)	V91A	probably damaging	Het
Atp2a1	T	A	7: 126,047,750 (GRCm39)	I687F	probably damaging	Het
B3gnt5	A	C	16: 19,588,531 (GRCm39)	Y250S	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
C1s2	T	C	6: 124,602,612 (GRCm39)	D527G	probably damaging	Het
Chrna5	T	A	9: 54,905,455 (GRCm39)		probably benign	Het
Cltc	C	A	11: 86,586,526 (GRCm39)		probably benign	Het
Dgkh	T	G	14: 78,853,710 (GRCm39)	I439L	possibly damaging	Het
Dnajc16	G	A	4: 141,491,008 (GRCm39)	T714I	possibly damaging	Het
Fam13a	A	T	6: 58,933,065 (GRCm39)	I349N	probably damaging	Het
Fig4	C	T	10: 41,132,514 (GRCm39)	D431N	probably benign	Het
Gabra4	A	T	5: 71,798,429 (GRCm39)	N183K	possibly damaging	Het
Ggt5	C	T	10: 75,445,944 (GRCm39)		probably benign	Het
Hdac6	A	G	X: 7,798,418 (GRCm39)	L798P	probably damaging	Het
Hectd4	T	C	5: 121,456,714 (GRCm39)	V2030A	probably benign	Het
Hecw2	A	G	1: 53,866,120 (GRCm39)	Y1514H	probably damaging	Het
Hmcn1	T	C	1: 150,480,823 (GRCm39)	D4451G	probably benign	Het
Krtcap3	T	C	5: 31,409,167 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,217,695 (GRCm39)		probably benign	Het
Mapkapk2	T	C	1: 130,986,499 (GRCm39)	M1V	probably null	Het
Mical3	A	T	6: 120,935,537 (GRCm39)	I1663N	probably benign	Het
Mvp	G	T	7: 126,601,133 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,170,324 (GRCm39)	I485V	probably damaging	Het
N4bp2	T	A	5: 65,960,890 (GRCm39)	C520*	probably null	Het
Nos2	A	G	11: 78,836,689 (GRCm39)		probably benign	Het
Ogdh	G	A	11: 6,305,069 (GRCm39)	V925M	probably damaging	Het
Pde2a	T	A	7: 101,151,143 (GRCm39)		probably benign	Het
Pole	T	A	5: 110,451,750 (GRCm39)	I864K	probably damaging	Het
Rexo4	A	T	2: 26,850,645 (GRCm39)	I239N	probably benign	Het
Scn1a	T	A	2: 66,152,687 (GRCm39)	I748F	probably damaging	Het
Sfmbt2	A	T	2: 10,584,165 (GRCm39)	R841*	probably null	Het
Sh3bp5l	A	G	11: 58,228,827 (GRCm39)	N100S	probably damaging	Het
Spic	T	A	10: 88,511,623 (GRCm39)	D211V	probably damaging	Het
Stab2	A	G	10: 86,776,477 (GRCm39)		probably benign	Het
Tshr	A	G	12: 91,478,708 (GRCm39)	Y83C	probably damaging	Het
Vsir	A	G	10: 60,204,373 (GRCm39)	E172G	probably damaging	Het
Wwp2	T	C	8: 108,276,413 (GRCm39)	S508P	probably damaging	Het

Other mutations in Plpp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03183:Plpp6	APN	19	28,942,071 (GRCm39)	missense	possibly damaging	0.58
R0031:Plpp6	UTSW	19	28,942,243 (GRCm39)	missense	probably benign	0.37
R1570:Plpp6	UTSW	19	28,942,178 (GRCm39)	missense	probably damaging	1.00
R1846:Plpp6	UTSW	19	28,941,680 (GRCm39)	missense	probably benign	0.10
R1871:Plpp6	UTSW	19	28,941,684 (GRCm39)	missense	probably damaging	1.00
R2291:Plpp6	UTSW	19	28,941,720 (GRCm39)	missense	probably damaging	1.00
R5503:Plpp6	UTSW	19	28,942,146 (GRCm39)	missense	probably damaging	0.99
R7304:Plpp6	UTSW	19	28,941,617 (GRCm39)	missense	probably benign
R8090:Plpp6	UTSW	19	28,942,271 (GRCm39)	nonsense	probably null
R8109:Plpp6	UTSW	19	28,941,891 (GRCm39)	missense	possibly damaging	0.62

Posted On

2013-12-03