Incidental Mutation 'R7383:Inpp5f'
ID 572874
Institutional Source Beutler Lab
Gene Symbol Inpp5f
Ensembl Gene ENSMUSG00000042105
Gene Name inositol polyphosphate-5-phosphatase F
Synonyms cI-27, 5830435P03Rik, SAC2
MMRRC Submission 045465-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R7383 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 128213052-128298149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128296310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 887 (D887G)
Ref Sequence ENSEMBL: ENSMUSP00000045910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043138] [ENSMUST00000057557] [ENSMUST00000118605] [ENSMUST00000119081] [ENSMUST00000151237] [ENSMUST00000202419]
AlphaFold Q8CDA1
Predicted Effect probably damaging
Transcript: ENSMUST00000043138
AA Change: D887G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: D887G

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 probably benign
Transcript: ENSMUST00000057557
SMART Domains Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170

DomainStartEndE-ValueType
Pfam:MCM_bind 37 166 1.6e-44 PFAM
Pfam:Racemase_4 352 451 1.5e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118605
AA Change: D260G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113700
Gene: ENSMUSG00000042105
AA Change: D260G

DomainStartEndE-ValueType
Pfam:hSac2 1 73 8.9e-21 PFAM
low complexity region 415 427 N/A INTRINSIC
low complexity region 432 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119081
SMART Domains Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170

DomainStartEndE-ValueType
Pfam:MCM_bind 36 588 3.6e-210 PFAM
low complexity region 603 623 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151237
AA Change: D196G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000202419
SMART Domains Protein: ENSMUSP00000143952
Gene: ENSMUSG00000042105

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:VMA21 30 84 9.9e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 T A 11: 5,818,548 (GRCm39) I511N probably damaging Het
Ap5m1 T G 14: 49,311,653 (GRCm39) V241G possibly damaging Het
BC049715 T A 6: 136,817,453 (GRCm39) I231N probably damaging Het
Bckdhb T G 9: 83,835,766 (GRCm39) V90G possibly damaging Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Chd8 T C 14: 52,452,776 (GRCm39) I1248V probably damaging Het
Ckap2l A T 2: 129,111,172 (GRCm39) M675K possibly damaging Het
Ckap4 A T 10: 84,364,148 (GRCm39) V305E probably damaging Het
Clasrp C A 7: 19,319,198 (GRCm39) R489L unknown Het
Col24a1 A G 3: 145,004,599 (GRCm39) I26V probably benign Het
Cort C T 4: 149,209,861 (GRCm39) A64T possibly damaging Het
Dmkn T A 7: 30,464,793 (GRCm39) N255K unknown Het
Dph2 A T 4: 117,748,566 (GRCm39) L69Q probably damaging Het
Fbxo11 A G 17: 88,310,282 (GRCm39) I432T Het
Fgd3 T C 13: 49,421,785 (GRCm39) K531R possibly damaging Het
Fgd5 A G 6: 91,964,099 (GRCm39) K111E probably benign Het
Gdf6 T A 4: 9,859,537 (GRCm39) D206E probably benign Het
Gtpbp1 T A 15: 79,600,354 (GRCm39) L429Q probably damaging Het
Hk2 A G 6: 82,726,276 (GRCm39) F90S probably damaging Het
Hrnr A T 3: 93,239,098 (GRCm39) Q3112L unknown Het
Hsd17b4 A C 18: 50,297,917 (GRCm39) K402T probably benign Het
Htr1f T C 16: 64,747,206 (GRCm39) T29A probably benign Het
Ikbkb C A 8: 23,159,066 (GRCm39) A471S probably benign Het
Ipo9 A G 1: 135,316,411 (GRCm39) L805P probably damaging Het
Jmjd1c A T 10: 67,025,537 (GRCm39) N118I probably benign Het
Kif26b T G 1: 178,358,275 (GRCm39) C129G probably damaging Het
Mga G A 2: 119,790,821 (GRCm39) A2236T probably damaging Het
Micu2 T C 14: 58,154,810 (GRCm39) Q405R possibly damaging Het
Myo1e T A 9: 70,204,577 (GRCm39) V59D probably damaging Het
Nav3 A G 10: 109,552,532 (GRCm39) I1770T probably damaging Het
Ndufa10 A T 1: 92,392,183 (GRCm39) I190N probably damaging Het
Niban3 A C 8: 72,056,470 (GRCm39) E390A possibly damaging Het
Npat T A 9: 53,474,078 (GRCm39) H623Q probably benign Het
Npc1l1 T C 11: 6,167,777 (GRCm39) T1005A probably benign Het
Or10ag58 A G 2: 87,265,721 (GRCm39) S297G possibly damaging Het
Or14c39 A T 7: 86,343,960 (GRCm39) I99F probably damaging Het
Or1e22 A G 11: 73,376,715 (GRCm39) *312Q probably null Het
Or2b4 A G 17: 38,116,972 (GRCm39) K312R probably benign Het
Or2w3 T C 11: 58,557,011 (GRCm39) S209P possibly damaging Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Or8s8 C G 15: 98,354,578 (GRCm39) P129R probably damaging Het
Pafah1b2 C T 9: 45,880,147 (GRCm39) G177R probably benign Het
Phc1 A G 6: 122,300,317 (GRCm39) S521P unknown Het
Plpp2 A T 10: 79,366,841 (GRCm39) L25Q probably null Het
Plxna4 A G 6: 32,129,734 (GRCm39) probably null Het
Ppl G T 16: 4,915,835 (GRCm39) P576Q probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Rbfox1 G A 16: 6,887,899 (GRCm39) G13S probably benign Het
Rhot1 C G 11: 80,114,760 (GRCm39) P56R probably damaging Het
Sipa1l2 A G 8: 126,174,385 (GRCm39) W1298R probably damaging Het
Slc16a14 G A 1: 84,890,292 (GRCm39) H338Y probably damaging Het
Slc8a3 T G 12: 81,362,579 (GRCm39) Y80S probably damaging Het
Slco6c1 A T 1: 97,003,608 (GRCm39) Y513* probably null Het
Smarcd2 A G 11: 106,155,602 (GRCm39) C405R probably damaging Het
Szt2 G A 4: 118,222,411 (GRCm39) R3198* probably null Het
Tmeff1 T A 4: 48,636,841 (GRCm39) C180S probably damaging Het
Tmem132a A T 19: 10,844,358 (GRCm39) M80K probably benign Het
Tnfsf12 A G 11: 69,577,892 (GRCm39) V175A probably damaging Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Togaram2 A T 17: 72,007,512 (GRCm39) I354F probably damaging Het
Uchl5 T A 1: 143,659,753 (GRCm39) S42R probably benign Het
Virma C A 4: 11,514,026 (GRCm39) L627I probably damaging Het
Vmn2r12 A T 5: 109,240,684 (GRCm39) I143K probably benign Het
Vmn2r95 T G 17: 18,660,734 (GRCm39) V382G probably benign Het
Wipf3 G T 6: 54,462,263 (GRCm39) A158S probably benign Het
Ylpm1 T G 12: 85,091,242 (GRCm39) S1809A possibly damaging Het
Zdhhc5 A T 2: 84,524,748 (GRCm39) C191S probably benign Het
Zer1 G A 2: 30,001,253 (GRCm39) R84C probably damaging Het
Zfhx2 A T 14: 55,305,710 (GRCm39) V991D probably benign Het
Zscan4b C A 7: 10,637,960 (GRCm39) M61I possibly damaging Het
Zswim2 A T 2: 83,745,672 (GRCm39) S589T 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
R5234:Inpp5f UTSW 7 128,265,407 (GRCm39) missense probably benign
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
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'- GTCTTGAGACCATGGAAAACCC -3'
(R):5'- CTCTGGCAGTAAACATCCATGGG -3'

Sequencing Primer
(F):5'- CCAGGAGTGATGGGTAATAAGGTCC -3'
(R):5'- GCAGTAAACATCCATGGGCTTTG -3'
Posted On 2019-09-13