Incidental Mutation 'IGL00899:Inppl1'
ID 27761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inppl1
Ensembl Gene ENSMUSG00000032737
Gene Name inositol polyphosphate phosphatase-like 1
Synonyms SHIP2
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # IGL00899
Quality Score
Status
Chromosome 7
Chromosomal Location 101471839-101487419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101478365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 617 (I617N)
Ref Sequence ENSEMBL: ENSMUSP00000139910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035836] [ENSMUST00000165052] [ENSMUST00000185929]
AlphaFold Q6P549
Predicted Effect probably damaging
Transcript: ENSMUST00000035836
AA Change: I617N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: I617N

DomainStartEndE-ValueType
SH2 19 108 1.21e-26 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 5e-14 BLAST
IPPc 423 736 3.98e-137 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
SAM 1192 1257 2.47e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165052
AA Change: I617N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: I617N

DomainStartEndE-ValueType
SH2 19 108 1.21e-26 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 5e-14 BLAST
IPPc 423 736 3.98e-137 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
SAM 1192 1257 2.47e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185929
AA Change: I617N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: I617N

DomainStartEndE-ValueType
SH2 19 108 7.6e-29 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 4e-14 BLAST
IPPc 423 736 1.9e-139 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000186316
AA Change: I36N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209861
Predicted Effect unknown
Transcript: ENSMUST00000210116
AA Change: I118N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211436
Coding Region Coverage
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 SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mice display decreased postnatal growth, decreased circulating levels of leptin, free fatty acids, triglycerides, and total cholesterol, and resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AU018091 A G 7: 3,208,603 (GRCm39) I442T probably benign Het
Bpifb9a T C 2: 154,106,647 (GRCm39) probably null Het
Ccp110 T A 7: 118,321,907 (GRCm39) C521S probably benign Het
Chd6 A G 2: 160,871,218 (GRCm39) probably benign Het
Cndp2 A T 18: 84,695,501 (GRCm39) D133E probably damaging Het
Crygs T C 16: 22,625,312 (GRCm39) E43G possibly damaging Het
Ednra C T 8: 78,401,700 (GRCm39) G197R probably damaging Het
Esyt1 A G 10: 128,352,932 (GRCm39) L656P probably damaging Het
Ets1 C T 9: 32,664,104 (GRCm39) P118L probably damaging Het
Fam98c A G 7: 28,852,278 (GRCm39) probably benign Het
Foxi1 G A 11: 34,155,772 (GRCm39) T286I probably benign Het
Gimap5 G A 6: 48,730,107 (GRCm39) A226T possibly damaging Het
Heatr1 C T 13: 12,450,057 (GRCm39) A2017V probably benign Het
Ikbkb T C 8: 23,150,463 (GRCm39) S740G possibly damaging Het
Itpkb T C 1: 180,160,558 (GRCm39) L228P probably benign Het
Kcnc4 T A 3: 107,365,779 (GRCm39) D143V possibly damaging Het
Krtdap T A 7: 30,489,387 (GRCm39) probably null Het
Lilra6 T A 7: 3,916,056 (GRCm39) T268S probably damaging Het
M6pr A G 6: 122,292,354 (GRCm39) E183G possibly damaging Het
Muc5ac T A 7: 141,366,440 (GRCm39) V2168D possibly damaging Het
Nbea A G 3: 55,550,266 (GRCm39) S2721P probably benign Het
Or1j20 A T 2: 36,760,222 (GRCm39) I215L probably benign Het
Pqbp1 T C X: 7,762,243 (GRCm39) N94S probably benign Het
Prl3d2 T C 13: 27,306,332 (GRCm39) S20P probably damaging Het
Psmb2 T C 4: 126,601,350 (GRCm39) I151T probably benign Het
Rapgef6 G T 11: 54,510,844 (GRCm39) E107* probably null Het
Slc2a13 T C 15: 91,381,602 (GRCm39) T296A probably benign Het
Tcl1b4 A G 12: 105,170,916 (GRCm39) T55A probably damaging Het
Tg T C 15: 66,545,922 (GRCm39) probably null Het
Trim80 T G 11: 115,338,491 (GRCm39) N440K probably benign Het
Ttc13 C T 8: 125,415,586 (GRCm39) probably benign Het
Ttc38 T A 15: 85,728,663 (GRCm39) I205N possibly damaging Het
Ufl1 T C 4: 25,262,238 (GRCm39) D336G probably damaging Het
Vmn2r74 A T 7: 85,606,338 (GRCm39) I336K probably benign Het
Zbtb26 G T 2: 37,326,270 (GRCm39) Y255* probably null Het
Zfp462 T A 4: 55,007,732 (GRCm39) V57E probably damaging Het
Other mutations in Inppl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Inppl1 APN 7 101,483,041 (GRCm39) nonsense probably null
IGL01678:Inppl1 APN 7 101,481,803 (GRCm39) missense probably benign 0.09
IGL02420:Inppl1 APN 7 101,481,526 (GRCm39) unclassified probably benign
IGL02423:Inppl1 APN 7 101,481,450 (GRCm39) missense probably benign 0.02
IGL02965:Inppl1 APN 7 101,477,478 (GRCm39) missense possibly damaging 0.87
IGL03329:Inppl1 APN 7 101,473,587 (GRCm39) missense possibly damaging 0.48
ditzel UTSW 7 101,476,663 (GRCm39) nonsense probably null
PIT4362001:Inppl1 UTSW 7 101,475,220 (GRCm39) missense probably benign 0.34
R0310:Inppl1 UTSW 7 101,477,706 (GRCm39) splice site probably benign
R0355:Inppl1 UTSW 7 101,476,664 (GRCm39) missense probably damaging 1.00
R0394:Inppl1 UTSW 7 101,477,402 (GRCm39) splice site probably benign
R0547:Inppl1 UTSW 7 101,480,210 (GRCm39) missense probably benign 0.02
R0578:Inppl1 UTSW 7 101,480,795 (GRCm39) missense probably damaging 1.00
R1506:Inppl1 UTSW 7 101,473,174 (GRCm39) missense probably benign 0.01
R1526:Inppl1 UTSW 7 101,482,153 (GRCm39) missense probably benign 0.02
R1901:Inppl1 UTSW 7 101,472,584 (GRCm39) missense possibly damaging 0.85
R2381:Inppl1 UTSW 7 101,478,439 (GRCm39) missense probably damaging 1.00
R3690:Inppl1 UTSW 7 101,481,275 (GRCm39) missense probably damaging 0.99
R4911:Inppl1 UTSW 7 101,481,516 (GRCm39) missense possibly damaging 0.94
R5637:Inppl1 UTSW 7 101,478,055 (GRCm39) missense probably benign 0.08
R6227:Inppl1 UTSW 7 101,473,506 (GRCm39) missense possibly damaging 0.88
R6409:Inppl1 UTSW 7 101,478,168 (GRCm39) missense probably damaging 1.00
R6678:Inppl1 UTSW 7 101,481,477 (GRCm39) missense probably damaging 0.99
R6752:Inppl1 UTSW 7 101,481,749 (GRCm39) nonsense probably null
R7095:Inppl1 UTSW 7 101,476,663 (GRCm39) nonsense probably null
R7196:Inppl1 UTSW 7 101,477,993 (GRCm39) missense probably benign 0.05
R7421:Inppl1 UTSW 7 101,482,144 (GRCm39) missense probably damaging 0.99
R7575:Inppl1 UTSW 7 101,477,689 (GRCm39) missense probably damaging 1.00
R7664:Inppl1 UTSW 7 101,479,304 (GRCm39) missense probably damaging 0.97
R7767:Inppl1 UTSW 7 101,473,545 (GRCm39) missense probably benign 0.03
R8131:Inppl1 UTSW 7 101,479,268 (GRCm39) missense possibly damaging 0.50
R8206:Inppl1 UTSW 7 101,472,783 (GRCm39) missense possibly damaging 0.52
R8492:Inppl1 UTSW 7 101,475,985 (GRCm39) missense probably damaging 1.00
R8559:Inppl1 UTSW 7 101,478,834 (GRCm39) nonsense probably null
R8707:Inppl1 UTSW 7 101,478,903 (GRCm39) missense
R8876:Inppl1 UTSW 7 101,472,750 (GRCm39) missense possibly damaging 0.71
R8921:Inppl1 UTSW 7 101,472,593 (GRCm39) missense possibly damaging 0.92
R9021:Inppl1 UTSW 7 101,480,915 (GRCm39) missense probably damaging 0.96
R9113:Inppl1 UTSW 7 101,475,231 (GRCm39) missense probably benign 0.05
Posted On 2013-04-17