Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02310:Pip4p1'

287767

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pip4p1

Ensembl Gene

ENSMUSG00000035953

Gene Name

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1

Synonyms

Tmem55b

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

IGL02310

Quality Score

Status

Chromosome

Chromosomal Location

51164672-51168306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51166667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 187 (T187A)

Ref Sequence

ENSEMBL: ENSMUSP00000124259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000049312] [ENSMUST00000049411] [ENSMUST00000128395] [ENSMUST00000136753] [ENSMUST00000154288] [ENSMUST00000160538] [ENSMUST00000160835] [ENSMUST00000161166] [ENSMUST00000162957] [ENSMUST00000162177] [ENSMUST00000159292] [ENSMUST00000160393] [ENSMUST00000160890] [ENSMUST00000160375] [ENSMUST00000226871]

AlphaFold

Q3TWL2

Predicted Effect

probably benign
Transcript: ENSMUST00000006452

SMART Domains

Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	186	1.1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049312
AA Change: T180A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953
AA Change: T180A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	270	9.8e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049411

SMART Domains

Protein: ENSMUSP00000042602
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	308	1.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128395

SMART Domains

Protein: ENSMUSP00000116319
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	9	35	N/A	INTRINSIC
Pfam:Exo_endo_phos	59	280	2.3e-24	PFAM
Pfam:Exo_endo_phos_2	138	284	4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136753

SMART Domains

Protein: ENSMUSP00000123148
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	177	3.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154288

SMART Domains

Protein: ENSMUSP00000122343
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	214	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159047

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160538
AA Change: T187A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953
AA Change: T187A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	197	1.9e-82	PFAM
low complexity region	221	235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160835
AA Change: T187A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953
AA Change: T187A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	4	277	2.8e-129	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160464

Predicted Effect

probably benign
Transcript: ENSMUST00000161166

SMART Domains

Protein: ENSMUSP00000125414
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	168	3.6e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162957

SMART Domains

Protein: ENSMUSP00000123697
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	174	2.9e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162177

SMART Domains

Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	1	220	1.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159292

SMART Domains

Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	301	3.6e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160393

SMART Domains

Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	301	3.6e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161669

Predicted Effect

probably benign
Transcript: ENSMUST00000160890

SMART Domains

Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	79	1.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160375

SMART Domains

Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	1	156	1.3e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163088

Predicted Effect

probably benign
Transcript: ENSMUST00000226871

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	A	10: 88,859,740 (GRCm39)	K382*	probably null	Het
Apoc2l	A	G	7: 19,405,688 (GRCm39)	*98Q	probably null	Het
Bcl9l	A	G	9: 44,420,602 (GRCm39)	Y1299C	probably damaging	Het
Best1	T	A	19: 9,966,516 (GRCm39)	H357L	probably benign	Het
Cdc26	T	C	4: 62,313,266 (GRCm39)		probably benign	Het
Esyt2	C	T	12: 116,329,541 (GRCm39)	L700F	probably benign	Het
Fkbp15	T	C	4: 62,258,553 (GRCm39)	Y138C	probably damaging	Het
Gbp6	T	C	5: 105,438,841 (GRCm39)	N16D	probably benign	Het
Hecw2	T	C	1: 53,963,075 (GRCm39)	D812G	probably null	Het
Hic2	G	A	16: 17,075,621 (GRCm39)	R150Q	probably damaging	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Klhl36	T	A	8: 120,596,356 (GRCm39)		probably null	Het
Matcap2	A	G	9: 22,335,724 (GRCm39)	Y114C	probably benign	Het
Mug2	C	T	6: 122,036,082 (GRCm39)		probably benign	Het
Or9s14	T	C	1: 92,535,787 (GRCm39)	V76A	possibly damaging	Het
Pdcl2	A	T	5: 76,465,728 (GRCm39)	I116N	probably damaging	Het
Pkn2	A	G	3: 142,517,341 (GRCm39)	I482T	probably damaging	Het
Prss53	T	G	7: 127,485,786 (GRCm39)	D518A	probably benign	Het
Psme4	A	G	11: 30,787,484 (GRCm39)	D1093G	probably benign	Het
Tmcc2	A	T	1: 132,286,645 (GRCm39)	I602N	probably damaging	Het
Ttn	C	T	2: 76,619,035 (GRCm39)	V16115I	possibly damaging	Het
Zbtb21	G	T	16: 97,752,990 (GRCm39)	T459K	possibly damaging	Het

Other mutations in Pip4p1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0016:Pip4p1	UTSW	14	51,166,351 (GRCm39)	missense	probably damaging	1.00
R0885:Pip4p1	UTSW	14	51,167,763 (GRCm39)	missense	probably damaging	1.00
R2483:Pip4p1	UTSW	14	51,167,749 (GRCm39)	missense	probably damaging	1.00
R2509:Pip4p1	UTSW	14	51,167,115 (GRCm39)	nonsense	probably null
R4202:Pip4p1	UTSW	14	51,168,112 (GRCm39)	missense	probably damaging	0.97
R4992:Pip4p1	UTSW	14	51,166,690 (GRCm39)	missense	probably damaging	0.98
R5381:Pip4p1	UTSW	14	51,166,495 (GRCm39)	missense	probably benign	0.00
R5629:Pip4p1	UTSW	14	51,165,373 (GRCm39)	missense	probably benign	0.05
R5844:Pip4p1	UTSW	14	51,166,499 (GRCm39)	missense	probably benign	0.03
R5865:Pip4p1	UTSW	14	51,166,332 (GRCm39)	unclassified	probably benign
R7177:Pip4p1	UTSW	14	51,167,634 (GRCm39)	missense	possibly damaging	0.65
R7732:Pip4p1	UTSW	14	51,168,090 (GRCm39)	missense	possibly damaging	0.69
R8773:Pip4p1	UTSW	14	51,166,503 (GRCm39)	missense	possibly damaging	0.48
R9751:Pip4p1	UTSW	14	51,165,436 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16