Incidental Mutation 'R5234:Inpp5f'
ID 398218
Institutional Source Beutler Lab
Gene Symbol Inpp5f
Ensembl Gene ENSMUSG00000042105
Gene Name inositol polyphosphate-5-phosphatase F
Synonyms cI-27, 5830435P03Rik, SAC2
MMRRC Submission 042806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R5234 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 128213052-128298149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128265407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 121 (I121V)
Ref Sequence ENSEMBL: ENSMUSP00000045910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043138]
AlphaFold Q8CDA1
Predicted Effect probably benign
Transcript: ENSMUST00000043138
AA Change: I121V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: I121V

DomainStartEndE-ValueType
Pfam:Syja_N 49 416 1.2e-85 PFAM
Blast:IPPc 449 568 6e-13 BLAST
Pfam:hSac2 590 698 9.1e-25 PFAM
low complexity region 1042 1054 N/A INTRINSIC
low complexity region 1059 1065 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098007
SMART Domains Protein: ENSMUSP00000095616
Gene: ENSMUSG00000042105

DomainStartEndE-ValueType
Pfam:Syja_N 48 410 1.2e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148815
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,302,823 (GRCm39) T2132M probably damaging Het
Abca8b A T 11: 109,867,420 (GRCm39) F213I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adamts6 A G 13: 104,630,130 (GRCm39) Y1091C probably damaging Het
Adamtsl4 T C 3: 95,588,230 (GRCm39) M586V probably benign Het
Anapc4 T C 5: 53,006,118 (GRCm39) S336P probably damaging Het
Atp1a4 A T 1: 172,054,737 (GRCm39) I964K possibly damaging Het
Bcan A T 3: 87,903,453 (GRCm39) D246E probably damaging Het
Ccnf G A 17: 24,453,411 (GRCm39) R343* probably null Het
Col6a5 T C 9: 105,741,404 (GRCm39) H2505R probably damaging Het
Dlg5 T A 14: 24,242,930 (GRCm39) M72L probably damaging Het
Dnajc18 T C 18: 35,816,351 (GRCm39) T196A probably benign Het
Dnajc19 T A 3: 34,112,108 (GRCm39) I146F probably benign Het
Espnl A G 1: 91,272,515 (GRCm39) D581G probably benign Het
Fam167a T C 14: 63,689,787 (GRCm39) L28P probably damaging Het
Fra10ac1 T C 19: 38,204,294 (GRCm39) D94G probably damaging Het
Fut8 A G 12: 77,379,004 (GRCm39) H35R probably benign Het
Gad1-ps T A 10: 99,281,188 (GRCm39) noncoding transcript Het
Garin2 T A 12: 78,762,045 (GRCm39) Y236* probably null Het
Idh2 A T 7: 79,745,853 (GRCm39) V333E probably damaging Het
Itga1 A T 13: 115,185,839 (GRCm39) Y54* probably null Het
Lax1 A G 1: 133,608,321 (GRCm39) V140A probably benign Het
Ncoa6 A G 2: 155,279,933 (GRCm39) F28L probably benign Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or1q1 T C 2: 36,887,107 (GRCm39) V95A probably benign Het
Polr2a T C 11: 69,627,666 (GRCm39) I1414V probably benign Het
Ppp1r14b A G 19: 6,954,227 (GRCm39) E115G possibly damaging Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Psmd11 A G 11: 80,319,566 (GRCm39) I19V probably benign Het
Pthlh C A 6: 147,158,592 (GRCm39) G123W probably damaging Het
Qars1 T A 9: 108,391,364 (GRCm39) L572Q probably damaging Het
Rubcn T C 16: 32,656,828 (GRCm39) I516V probably damaging Het
Sgsm3 A T 15: 80,892,145 (GRCm39) S238C probably damaging Het
Slc25a22 C A 7: 141,014,116 (GRCm39) probably benign Het
Slc4a1 G A 11: 102,252,209 (GRCm39) R5W probably benign Het
Tie1 G A 4: 118,339,959 (GRCm39) T356I probably benign Het
Tnn A T 1: 159,972,569 (GRCm39) H344Q possibly damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Topaz1 C T 9: 122,619,258 (GRCm39) T1285M possibly damaging Het
Trank1 A T 9: 111,215,535 (GRCm39) S1822C probably damaging Het
Ttll11 A C 2: 35,830,745 (GRCm39) Y209D probably damaging Het
Unc45a C G 7: 79,978,547 (GRCm39) A634P probably benign Het
Vmn2r4 C T 3: 64,305,878 (GRCm39) V515I possibly damaging Het
Other mutations in Inpp5f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Inpp5f APN 7 128,265,991 (GRCm39) missense probably benign 0.04
IGL01316:Inpp5f APN 7 128,292,430 (GRCm39) splice site probably benign
IGL01455:Inpp5f APN 7 128,279,773 (GRCm39) missense probably damaging 1.00
IGL01471:Inpp5f APN 7 128,277,122 (GRCm39) missense probably damaging 0.99
IGL01590:Inpp5f APN 7 128,266,031 (GRCm39) critical splice donor site probably null
IGL01942:Inpp5f APN 7 128,269,493 (GRCm39) missense probably damaging 1.00
IGL02092:Inpp5f APN 7 128,286,948 (GRCm39) missense probably damaging 1.00
IGL02137:Inpp5f APN 7 128,296,853 (GRCm39) missense probably damaging 1.00
IGL02664:Inpp5f APN 7 128,265,738 (GRCm39) missense probably damaging 1.00
IGL02812:Inpp5f APN 7 128,284,030 (GRCm39) missense probably damaging 1.00
IGL02942:Inpp5f APN 7 128,296,624 (GRCm39) missense probably benign 0.29
PIT4480001:Inpp5f UTSW 7 128,286,858 (GRCm39) missense probably benign 0.32
PIT4812001:Inpp5f UTSW 7 128,294,032 (GRCm39) missense probably benign 0.39
R0243:Inpp5f UTSW 7 128,296,907 (GRCm39) missense probably damaging 1.00
R0346:Inpp5f UTSW 7 128,292,392 (GRCm39) missense probably damaging 1.00
R1186:Inpp5f UTSW 7 128,296,307 (GRCm39) missense probably benign
R1375:Inpp5f UTSW 7 128,265,753 (GRCm39) nonsense probably null
R1918:Inpp5f UTSW 7 128,265,693 (GRCm39) splice site probably benign
R2307:Inpp5f UTSW 7 128,296,034 (GRCm39) missense probably damaging 1.00
R3716:Inpp5f UTSW 7 128,292,394 (GRCm39) missense probably damaging 1.00
R4157:Inpp5f UTSW 7 128,281,423 (GRCm39) intron probably benign
R4647:Inpp5f UTSW 7 128,260,833 (GRCm39) missense possibly damaging 0.94
R4705:Inpp5f UTSW 7 128,265,711 (GRCm39) missense probably damaging 0.97
R4713:Inpp5f UTSW 7 128,265,449 (GRCm39) missense probably damaging 0.99
R4818:Inpp5f UTSW 7 128,286,853 (GRCm39) missense probably damaging 1.00
R4914:Inpp5f UTSW 7 128,286,840 (GRCm39) missense probably damaging 1.00
R4915:Inpp5f UTSW 7 128,286,840 (GRCm39) missense probably damaging 1.00
R4917:Inpp5f UTSW 7 128,286,840 (GRCm39) missense probably damaging 1.00
R5069:Inpp5f UTSW 7 128,278,451 (GRCm39) critical splice acceptor site probably null
R5181:Inpp5f UTSW 7 128,281,555 (GRCm39) missense probably damaging 1.00
R6299:Inpp5f UTSW 7 128,237,884 (GRCm39) missense possibly damaging 0.87
R6389:Inpp5f UTSW 7 128,279,780 (GRCm39) missense probably damaging 1.00
R6530:Inpp5f UTSW 7 128,265,802 (GRCm39) nonsense probably null
R6545:Inpp5f UTSW 7 128,296,280 (GRCm39) missense possibly damaging 0.88
R7259:Inpp5f UTSW 7 128,271,681 (GRCm39) missense probably benign 0.00
R7383:Inpp5f UTSW 7 128,296,310 (GRCm39) missense probably damaging 1.00
R7427:Inpp5f UTSW 7 128,281,529 (GRCm39) missense probably damaging 1.00
R7428:Inpp5f UTSW 7 128,281,529 (GRCm39) missense probably damaging 1.00
R7679:Inpp5f UTSW 7 128,296,247 (GRCm39) missense possibly damaging 0.68
R7809:Inpp5f UTSW 7 128,269,367 (GRCm39) missense probably damaging 1.00
R7840:Inpp5f UTSW 7 128,296,526 (GRCm39) missense probably benign
R7912:Inpp5f UTSW 7 128,294,037 (GRCm39) missense probably benign
R7915:Inpp5f UTSW 7 128,269,433 (GRCm39) missense probably benign 0.25
R7960:Inpp5f UTSW 7 128,295,638 (GRCm39) splice site probably null
R8027:Inpp5f UTSW 7 128,292,397 (GRCm39) missense probably damaging 1.00
R8154:Inpp5f UTSW 7 128,265,991 (GRCm39) missense possibly damaging 0.73
R8213:Inpp5f UTSW 7 128,281,529 (GRCm39) missense probably damaging 1.00
R9499:Inpp5f UTSW 7 128,295,437 (GRCm39) missense possibly damaging 0.62
R9519:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9544:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9597:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9598:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9634:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9701:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9702:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9784:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9802:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
R9803:Inpp5f UTSW 7 128,278,515 (GRCm39) missense possibly damaging 0.62
RF001:Inpp5f UTSW 7 128,296,807 (GRCm39) missense probably damaging 1.00
X0061:Inpp5f UTSW 7 128,284,021 (GRCm39) missense probably damaging 1.00
Z1088:Inpp5f UTSW 7 128,296,673 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ACCATAGCTATATCCTGCCTGC -3'
(R):5'- CCAAACACAGGACTGTCTTCTG -3'

Sequencing Primer
(F):5'- ATAGCTATATCCTGCCTGCTTAGTC -3'
(R):5'- ACACAGGACTGTCTTCTGATATAC -3'
Posted On 2016-07-06