Mutagenetix > Incidental Mutation

Incidental Mutation 'R8773:Pip4p1'

664560

Institutional Source

Beutler Lab

Gene Symbol

Pip4p1

Ensembl Gene

ENSMUSG00000035953

Gene Name

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1

Synonyms

Tmem55b

MMRRC Submission

068627-MU

Accession Numbers

Essential gene?

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

Stock #

R8773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51164672-51168306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51166503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 194 (T194A)

Ref Sequence

ENSEMBL: ENSMUSP00000124782 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000049312
AA Change: T187A

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953
AA Change: T187A

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

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

possibly damaging
Transcript: ENSMUST00000160835
AA Change: T194A

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953
AA Change: T194A

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

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

silent
Transcript: ENSMUST00000160538

SMART Domains

Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953

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: ENSMUST00000160890

SMART Domains

Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

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

Predicted Effect

silent
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

silent
Transcript: ENSMUST00000161669

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

silent
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: ENSMUST00000226871

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,314,062 (GRCm39)	S539T	possibly damaging	Het
Abcc6	C	T	7: 45,634,569 (GRCm39)	R1136Q	probably benign	Het
Abhd12b	A	C	12: 70,213,708 (GRCm39)		probably null	Het
Agk	T	G	6: 40,334,050 (GRCm39)	V98G	possibly damaging	Het
Apbb2	A	G	5: 66,609,252 (GRCm39)	S132P	probably damaging	Het
Apc2	T	C	10: 80,142,046 (GRCm39)	S322P	probably damaging	Het
Armc3	T	C	2: 19,293,667 (GRCm39)	V486A	probably benign	Het
Asxl2	A	G	12: 3,507,200 (GRCm39)	K131E	probably damaging	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Bnc1	C	T	7: 81,623,719 (GRCm39)	G503S	probably damaging	Het
Bsn	C	A	9: 107,987,704 (GRCm39)	V2683F	unknown	Het
Btbd7	A	T	12: 102,804,241 (GRCm39)	N266K	probably benign	Het
Ccdc121rt2	T	C	5: 112,597,681 (GRCm39)	V76A	probably benign	Het
Cdca7l	G	A	12: 117,839,346 (GRCm39)	D350N	possibly damaging	Het
Cfap251	A	G	5: 123,411,913 (GRCm39)	D515G	probably benign	Het
Ciao2a	A	T	9: 66,045,667 (GRCm39)	N145I	probably damaging	Het
Col6a3	T	A	1: 90,696,171 (GRCm39)	D3239V	unknown	Het
Col9a1	T	A	1: 24,224,208 (GRCm39)	I130N	unknown	Het
Cr2	A	G	1: 194,840,913 (GRCm39)	W460R	probably damaging	Het
Cyb561d2	A	G	9: 107,417,583 (GRCm39)	F56S	probably damaging	Het
Dnaaf1	A	G	8: 120,302,194 (GRCm39)	I32V	probably benign	Het
Dnah11	T	A	12: 117,958,950 (GRCm39)	T2978S	possibly damaging	Het
Dsg2	T	A	18: 20,716,056 (GRCm39)	D302E	probably damaging	Het
Faf1	T	A	4: 109,699,507 (GRCm39)	F351I	possibly damaging	Het
Gimap8	C	A	6: 48,633,545 (GRCm39)	Q455K	probably benign	Het
Hps6	C	G	19: 45,994,141 (GRCm39)	R693G	possibly damaging	Het
Irx1	C	T	13: 72,107,635 (GRCm39)	G349D	probably damaging	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Lcat	T	C	8: 106,666,710 (GRCm39)	T271A	possibly damaging	Het
Mapkapk2	T	C	1: 130,983,679 (GRCm39)	H308R	probably damaging	Het
Mast1	A	T	8: 85,642,953 (GRCm39)	N947K	probably damaging	Het
Mpeg1	A	T	19: 12,440,419 (GRCm39)	I626F	probably damaging	Het
Mrtfa	T	C	15: 80,902,274 (GRCm39)	S349G	possibly damaging	Het
Myh15	T	C	16: 49,015,900 (GRCm39)	S1859P	possibly damaging	Het
Nlrx1	A	T	9: 44,167,712 (GRCm39)	D728E	probably benign	Het
Or1j8	A	G	2: 36,192,387 (GRCm39)	T279A	probably benign	Het
Or8c19-ps1	G	T	9: 38,220,516 (GRCm39)	V142F	probably benign	Het
Pcdhb18	A	T	18: 37,624,562 (GRCm39)	S631C	probably damaging	Het
Pcdhga11	C	A	18: 37,890,364 (GRCm39)	Y457*	probably null	Het
Pcdhga5	T	C	18: 37,829,823 (GRCm39)	I757T	probably benign	Het
Pcgf5	G	A	19: 36,389,348 (GRCm39)		probably benign	Het
Pdf	A	G	8: 107,775,100 (GRCm39)	V44A	possibly damaging	Het
Prtg	A	T	9: 72,819,583 (GRCm39)	*1192L	probably null	Het
Ptk7	A	G	17: 46,877,193 (GRCm39)	F955S	possibly damaging	Het
Rbp3	C	A	14: 33,684,492 (GRCm39)	Q1174K	possibly damaging	Het
Rufy1	T	C	11: 50,321,796 (GRCm39)	D46G	possibly damaging	Het
Sbf2	A	G	7: 109,948,202 (GRCm39)	V1216A	probably benign	Het
Serpina11	A	G	12: 103,952,722 (GRCm39)	V18A	unknown	Het
Serpinb6a	T	A	13: 34,115,543 (GRCm39)	N47I	probably damaging	Het
Shc2	T	C	10: 79,456,924 (GRCm39)	H564R	probably damaging	Het
Sirt7	T	A	11: 120,514,888 (GRCm39)	R115*	probably null	Het
Slc22a14	A	T	9: 119,059,290 (GRCm39)		probably benign	Het
Stra8	T	A	6: 34,912,581 (GRCm39)	S331T	probably damaging	Het
Tm9sf2	A	G	14: 122,380,883 (GRCm39)	T324A	probably benign	Het
Tmem268	T	C	4: 63,498,530 (GRCm39)	S224P	probably benign	Het
Tns1	T	C	1: 73,976,407 (GRCm39)	D1147G	probably damaging	Het
Tomm22	C	T	15: 79,555,311 (GRCm39)		probably benign	Het
Top1	A	G	2: 160,556,158 (GRCm39)	Y539C	probably damaging	Het
Tpp2	T	A	1: 44,009,552 (GRCm39)		probably benign	Het
Trav3-1	T	C	14: 52,818,428 (GRCm39)	V34A	probably damaging	Het
Tspyl5	T	C	15: 33,687,238 (GRCm39)	N236D	possibly damaging	Het
Ttc41	A	G	10: 86,565,679 (GRCm39)	D411G	probably benign	Het
Vmn1r128	A	T	7: 21,083,922 (GRCm39)	M209L	probably benign	Het
Xirp2	T	A	2: 67,355,527 (GRCm39)	D3429E	probably benign	Het
Zfp418	A	T	7: 7,185,797 (GRCm39)	T587S	probably benign	Het

Other mutations in Pip4p1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02310:Pip4p1	APN	14	51,166,667 (GRCm39)	missense	possibly damaging	0.83
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
R9751:Pip4p1	UTSW	14	51,165,436 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGACTGCCAAGAGTAAACC -3'
(R):5'- AGGGTCATCTGTGGACATTGC -3'

Sequencing Primer
(F):5'- AGCAGCAAATACATCTCTTCCTAGG -3'
(R):5'- GTCATCTGTGGACATTGCAAGAACAC -3'

Posted On

2021-03-08