Incidental Mutation 'R6545:Inpp5f'
ID 521108
Institutional Source Beutler Lab
Gene Symbol Inpp5f
Ensembl Gene ENSMUSG00000042105
Gene Name inositol polyphosphate-5-phosphatase F
Synonyms cI-27, 5830435P03Rik, SAC2
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 128213052-128298149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128296280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 250 (A250D)
Ref Sequence ENSEMBL: ENSMUSP00000113700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043138] [ENSMUST00000057557] [ENSMUST00000118605] [ENSMUST00000119081] [ENSMUST00000151237] [ENSMUST00000202419]
AlphaFold Q8CDA1
Predicted Effect possibly damaging
Transcript: ENSMUST00000043138
AA Change: A877D

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: A877D

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 noncoding transcript
Transcript: ENSMUST00000118475
Predicted Effect possibly damaging
Transcript: ENSMUST00000118605
AA Change: A250D

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113700
Gene: ENSMUSG00000042105
AA Change: A250D

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 noncoding transcript
Transcript: ENSMUST00000127807
Predicted Effect possibly damaging
Transcript: ENSMUST00000151237
AA Change: A186D

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142075
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign 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
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'- CGGCAACCTACGAAAATTAGG -3'
(R):5'- CAGGCCTTTCCCAAGTTCAC -3'

Sequencing Primer
(F):5'- GGAAACTTTACAAAGCCTGAAATG -3'
(R):5'- GTTCACTTCCAGGACCAGCAG -3'
Posted On 2018-06-06