Incidental Mutation 'R5844:Pip4p1'
ID 450610
Institutional Source Beutler Lab
Gene Symbol Pip4p1
Ensembl Gene ENSMUSG00000035953
Gene Name phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1
Synonyms Tmem55b
MMRRC Submission 044062-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R5844 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51164672-51168306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51166499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 160 (T160A)
Ref Sequence ENSEMBL: ENSMUSP00000123697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000049312] [ENSMUST00000049411] [ENSMUST00000128395] [ENSMUST00000136753] [ENSMUST00000154288] [ENSMUST00000160538] [ENSMUST00000160835] [ENSMUST00000161166] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000160890] [ENSMUST00000162177] [ENSMUST00000160393] [ENSMUST00000162957] [ENSMUST00000226871]
AlphaFold Q3TWL2
Predicted Effect probably benign
Transcript: ENSMUST00000006452
SMART Domains Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 186 1.1e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049312
AA Change: D188G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953
AA Change: D188G

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 270 9.8e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049411
SMART Domains Protein: ENSMUSP00000042602
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:Exo_endo_phos 64 214 1.1e-18 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160538
AA Change: T243A
SMART Domains Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953
AA Change: T243A

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 197 1.9e-82 PFAM
low complexity region 221 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159745
Predicted Effect probably benign
Transcript: ENSMUST00000160835
AA Change: D195G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953
AA Change: D195G

DomainStartEndE-ValueType
Pfam:Tmemb_55A 4 277 2.8e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161166
AA Change: T153A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125414
Gene: ENSMUSG00000035953
AA Change: T153A

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 168 3.6e-65 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000161669
AA Change: T19A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160464
Predicted Effect probably benign
Transcript: ENSMUST00000159292
SMART Domains Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160375
SMART Domains Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 156 1.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160890
SMART Domains Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 79 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162177
SMART Domains Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 220 1.1e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160393
SMART Domains Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162957
AA Change: T160A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123697
Gene: ENSMUSG00000035953
AA Change: T160A

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 174 2.9e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162935
Predicted Effect probably benign
Transcript: ENSMUST00000226871
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (55/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,950,065 (GRCm39) M1321L probably benign Het
Adra1a C T 14: 66,965,183 (GRCm39) T391I probably benign Het
Atf7ip C A 6: 136,583,812 (GRCm39) A1281D probably damaging Het
BC005624 T C 2: 30,866,023 (GRCm39) N141S probably benign Het
Catsperg2 A T 7: 29,397,257 (GRCm39) L1082Q possibly damaging Het
Cavin2 C T 1: 51,328,998 (GRCm39) R152C probably damaging Het
Ccdc33 C T 9: 57,940,489 (GRCm39) probably benign Het
Cfap43 T C 19: 47,784,135 (GRCm39) D466G probably benign Het
Cfap46 C A 7: 139,230,858 (GRCm39) M923I probably damaging Het
Chd1l T A 3: 97,479,883 (GRCm39) K621N probably benign Het
Cnksr1 A G 4: 133,955,575 (GRCm39) probably benign Het
Cym T C 3: 107,127,080 (GRCm39) H25R probably benign Het
Dagla T A 19: 10,248,489 (GRCm39) D57V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dse T A 10: 34,029,038 (GRCm39) D684V probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo10 A T 4: 45,058,760 (GRCm39) S326T probably benign Het
Galntl5 G T 5: 25,391,091 (GRCm39) probably benign Het
Grm5 A G 7: 87,453,232 (GRCm39) R290G possibly damaging Het
Gtpbp3 A G 8: 71,945,199 (GRCm39) T425A probably benign Het
Hepacam2 A G 6: 3,476,073 (GRCm39) I284T probably damaging Het
Ifi205 A C 1: 173,854,258 (GRCm39) probably null Het
Irs3 T C 5: 137,642,548 (GRCm39) T297A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Map4k4 T A 1: 40,039,036 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,697,542 (GRCm39) S782G probably benign Het
Mis18a G A 16: 90,523,969 (GRCm39) silent Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Myom2 G A 8: 15,181,182 (GRCm39) probably null Het
Ntaq1 A G 15: 58,017,056 (GRCm39) N157S probably benign Het
Or13a1 A T 6: 116,470,900 (GRCm39) E110V probably damaging Het
Or5g25 A G 2: 85,478,239 (GRCm39) V142A probably benign Het
Pde3b C T 7: 114,108,106 (GRCm39) T568I probably benign Het
Pkhd1 G T 1: 20,451,685 (GRCm39) D2203E probably benign Het
Ppp1r36 A G 12: 76,473,566 (GRCm39) K66E possibly damaging Het
Rfc1 C A 5: 65,451,130 (GRCm39) M319I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Runx1t1 T C 4: 13,881,068 (GRCm39) V456A probably damaging Het
Rxfp2 A G 5: 149,966,589 (GRCm39) K109R probably benign Het
Sgo2a T G 1: 58,055,556 (GRCm39) V580G probably damaging Het
Skint9 T C 4: 112,271,080 (GRCm39) Q110R probably benign Het
Slc38a9 A G 13: 112,868,035 (GRCm39) Y507C probably damaging Het
Smarca4 T A 9: 21,589,238 (GRCm39) probably benign Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tns3 A C 11: 8,384,580 (GRCm39) F1413V probably damaging Het
Trpm8 T C 1: 88,312,433 (GRCm39) *1105Q probably null Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zim1 T C 7: 6,681,115 (GRCm39) R183G probably benign Het
Zmiz1 T C 14: 25,657,354 (GRCm39) S871P probably damaging Het
Other mutations in Pip4p1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGTGACTGCCAAGAGTAAACC -3'
(R):5'- GGTCATCTGTGGACATTGCAAG -3'

Sequencing Primer
(F):5'- GCAAGAAGCAGCAAATACATCTCTTC -3'
(R):5'- GTCATCTGTGGACATTGCAAGAACAC -3'
Posted On 2016-12-20