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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |