Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01546:Dolpp1'

90341

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dolpp1

Ensembl Gene

ENSMUSG00000026856

Gene Name

dolichyl pyrophosphate phosphatase 1

Synonyms

0610011H20Rik, LSFR2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL01546

Quality Score

Status

Chromosome

Chromosomal Location

30282266-30290541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30287107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 180 (F180L)

Ref Sequence

ENSEMBL: ENSMUSP00000028209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000028209] [ENSMUST00000102855] [ENSMUST00000113612] [ENSMUST00000123202]

AlphaFold

Q9JMF7

Predicted Effect

probably benign
Transcript: ENSMUST00000028207

SMART Domains

Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	34	616	1.9e-235	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000028209
AA Change: F180L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856
AA Change: F180L

Domain	Start	End	E-Value	Type
acidPPc	59	180	1.31e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102855

SMART Domains

Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	35	615	2.4e-195	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113612

SMART Domains

Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
Pfam:PAP2	58	165	1.7e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123202
AA Change: F82L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856
AA Change: F82L

Domain	Start	End	E-Value	Type
Pfam:PAP2	1	90	8.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133991

Predicted Effect

probably benign
Transcript: ENSMUST00000137248

SMART Domains

Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
low complexity region	71	90	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156704

Predicted Effect

probably benign
Transcript: ENSMUST00000155196

SMART Domains

Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
low complexity region	69	88	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	C	A	17: 24,382,574 (GRCm39)	R22L	probably benign	Het
Arg2	T	C	12: 79,196,633 (GRCm39)		probably benign	Het
Catip	T	C	1: 74,401,954 (GRCm39)	L43P	probably damaging	Het
Ccdc30	A	C	4: 119,255,385 (GRCm39)	L123R	probably damaging	Het
Cep89	T	C	7: 35,120,325 (GRCm39)	L369P	probably damaging	Het
Kctd19	T	C	8: 106,113,594 (GRCm39)	H670R	probably benign	Het
Kntc1	T	A	5: 123,903,068 (GRCm39)	I315N	probably benign	Het
Mfsd4b2	A	T	10: 39,797,471 (GRCm39)	W295R	probably damaging	Het
Mgam	A	G	6: 40,631,627 (GRCm39)	T116A	probably damaging	Het
Mn1	A	T	5: 111,569,114 (GRCm39)	D1028V	probably damaging	Het
Or1e17	G	A	11: 73,832,020 (GRCm39)	G316D	probably benign	Het
Or2ag1b	A	G	7: 106,288,738 (GRCm39)	S67P	probably damaging	Het
Or52b1	T	C	7: 104,978,899 (GRCm39)	R167G	probably damaging	Het
Or52j3	A	T	7: 102,836,617 (GRCm39)	I270F	probably damaging	Het
Or7a40	A	G	16: 16,491,129 (GRCm39)	S239P	probably damaging	Het
Or7g27	T	G	9: 19,250,068 (GRCm39)	V104G	possibly damaging	Het
Phc3	C	A	3: 31,015,888 (GRCm39)	A108S	probably damaging	Het
Pkhd1l1	A	G	15: 44,429,712 (GRCm39)	Y3310C	probably damaging	Het
Ppp4r3b	T	C	11: 29,159,488 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,119 (GRCm39)	T159A	probably benign	Het
Sos1	T	A	17: 80,716,040 (GRCm39)	Y974F	probably damaging	Het
Spaca7b	T	A	8: 11,706,136 (GRCm39)	M133L	probably benign	Het
Taar8a	A	T	10: 23,952,813 (GRCm39)	Y139F	possibly damaging	Het
Vcam1	A	G	3: 115,909,591 (GRCm39)	C579R	possibly damaging	Het
Zdhhc17	C	T	10: 110,782,054 (GRCm39)	V547M	probably damaging	Het

Other mutations in Dolpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02896:Dolpp1	APN	2	30,286,242 (GRCm39)	missense	probably damaging	0.99
R1321:Dolpp1	UTSW	2	30,285,748 (GRCm39)	missense	possibly damaging	0.83
R2032:Dolpp1	UTSW	2	30,282,453 (GRCm39)	missense	probably damaging	1.00
R3722:Dolpp1	UTSW	2	30,287,500 (GRCm39)	missense	probably damaging	0.98
R4407:Dolpp1	UTSW	2	30,286,464 (GRCm39)	missense	possibly damaging	0.91
R5417:Dolpp1	UTSW	2	30,286,249 (GRCm39)	missense	probably damaging	1.00
R5895:Dolpp1	UTSW	2	30,285,658 (GRCm39)	splice site	probably benign
R6270:Dolpp1	UTSW	2	30,282,281 (GRCm39)	unclassified	probably benign
R7818:Dolpp1	UTSW	2	30,286,503 (GRCm39)	missense	probably benign	0.24
R8108:Dolpp1	UTSW	2	30,286,258 (GRCm39)	missense	probably benign	0.13
R9105:Dolpp1	UTSW	2	30,289,152 (GRCm39)	critical splice acceptor site	probably null
R9333:Dolpp1	UTSW	2	30,287,140 (GRCm39)	missense	probably damaging	1.00
R9544:Dolpp1	UTSW	2	30,282,515 (GRCm39)	missense	probably damaging	1.00
R9588:Dolpp1	UTSW	2	30,282,515 (GRCm39)	missense	probably damaging	1.00
R9684:Dolpp1	UTSW	2	30,285,748 (GRCm39)	missense	possibly damaging	0.83

Posted On

2013-12-03