Incidental Mutation 'IGL02965:Inppl1'
ID |
365547 |
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: 0.848)
|
Stock # |
IGL02965
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
101471839-101487419 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101477478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 715
(V715F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132883
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
AlphaFold |
Q6P549 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035836
AA Change: V715F
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048057 Gene: ENSMUSG00000032737 AA Change: V715F
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 |
possibly damaging
Transcript: ENSMUST00000165052
AA Change: V715F
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132883 Gene: ENSMUSG00000032737 AA Change: V715F
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 |
possibly damaging
Transcript: ENSMUST00000185929
AA Change: V715F
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139910 Gene: ENSMUSG00000032737 AA Change: V715F
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: V134F
|
Predicted Effect |
unknown
Transcript: ENSMUST00000210116
AA Change: V216F
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,071,439 (GRCm39) |
K1471R |
probably benign |
Het |
Add1 |
A |
G |
5: 34,777,467 (GRCm39) |
S77G |
probably damaging |
Het |
Atm |
G |
T |
9: 53,364,863 (GRCm39) |
N2642K |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,767,267 (GRCm39) |
M10K |
possibly damaging |
Het |
Btd |
T |
A |
14: 31,389,193 (GRCm39) |
S305T |
probably damaging |
Het |
Cmya5 |
C |
T |
13: 93,229,065 (GRCm39) |
V2008I |
probably benign |
Het |
Cpd |
T |
G |
11: 76,681,814 (GRCm39) |
|
probably benign |
Het |
Dis3l |
A |
G |
9: 64,217,766 (GRCm39) |
F772L |
probably damaging |
Het |
Dlg5 |
A |
T |
14: 24,222,091 (GRCm39) |
I517N |
probably damaging |
Het |
Fig4 |
G |
A |
10: 41,161,661 (GRCm39) |
T34M |
probably damaging |
Het |
Flna |
C |
T |
X: 73,270,816 (GRCm39) |
V2235I |
probably damaging |
Het |
Flot2 |
T |
C |
11: 77,950,031 (GRCm39) |
I371T |
possibly damaging |
Het |
Fsip2 |
G |
A |
2: 82,813,398 (GRCm39) |
S3239N |
probably benign |
Het |
Gbp3 |
A |
G |
3: 142,273,343 (GRCm39) |
I297V |
probably benign |
Het |
Gcnt3 |
T |
C |
9: 69,942,235 (GRCm39) |
E111G |
probably benign |
Het |
Gdi1 |
G |
T |
X: 73,351,331 (GRCm39) |
A148S |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
Hsp90aa1 |
A |
G |
12: 110,662,113 (GRCm39) |
M1T |
probably null |
Het |
Il22b |
A |
G |
10: 118,130,762 (GRCm39) |
S45P |
probably damaging |
Het |
Kansl1 |
T |
C |
11: 104,225,991 (GRCm39) |
Y975C |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,807,338 (GRCm39) |
|
probably benign |
Het |
Krt40 |
T |
A |
11: 99,432,492 (GRCm39) |
R175W |
probably damaging |
Het |
Map3k19 |
T |
C |
1: 127,751,803 (GRCm39) |
D516G |
probably damaging |
Het |
Mfsd3 |
A |
G |
15: 76,587,352 (GRCm39) |
H345R |
probably benign |
Het |
Mlkl |
A |
T |
8: 112,058,469 (GRCm39) |
I162N |
probably benign |
Het |
Mtnr1a |
A |
T |
8: 45,522,419 (GRCm39) |
N58I |
probably damaging |
Het |
Nsmf |
T |
C |
2: 24,951,774 (GRCm39) |
V499A |
probably damaging |
Het |
Nudt6 |
A |
G |
3: 37,473,655 (GRCm39) |
L22P |
probably damaging |
Het |
Nxf7 |
T |
G |
X: 134,490,159 (GRCm39) |
E35A |
probably damaging |
Het |
Or11h23 |
A |
C |
14: 50,948,653 (GRCm39) |
I289L |
probably damaging |
Het |
Paf1 |
T |
C |
7: 28,095,629 (GRCm39) |
|
probably null |
Het |
Pcdhb11 |
G |
T |
18: 37,557,021 (GRCm39) |
V784L |
probably benign |
Het |
Pglyrp2 |
T |
C |
17: 32,637,560 (GRCm39) |
D156G |
probably benign |
Het |
Pnpt1 |
A |
G |
11: 29,106,939 (GRCm39) |
D670G |
probably damaging |
Het |
Polr1b |
T |
A |
2: 128,967,443 (GRCm39) |
H945Q |
probably benign |
Het |
Ptk6 |
C |
T |
2: 180,840,861 (GRCm39) |
|
probably benign |
Het |
Rftn1 |
C |
T |
17: 50,362,280 (GRCm39) |
E273K |
probably benign |
Het |
Rnf125 |
A |
G |
18: 21,116,168 (GRCm39) |
I117V |
probably benign |
Het |
Robo4 |
A |
G |
9: 37,321,765 (GRCm39) |
K742R |
possibly damaging |
Het |
Sez6l |
T |
C |
5: 112,623,440 (GRCm39) |
E37G |
probably damaging |
Het |
Skint4 |
A |
T |
4: 111,993,218 (GRCm39) |
I306L |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,506,081 (GRCm39) |
Y497* |
probably null |
Het |
Snx27 |
C |
A |
3: 94,489,733 (GRCm39) |
V42L |
probably damaging |
Het |
Sorbs1 |
T |
A |
19: 40,365,187 (GRCm39) |
T199S |
probably benign |
Het |
Sorcs2 |
A |
G |
5: 36,235,301 (GRCm39) |
Y72H |
probably benign |
Het |
Spef2 |
G |
T |
15: 9,725,192 (GRCm39) |
|
probably benign |
Het |
Sucla2 |
G |
T |
14: 73,816,871 (GRCm39) |
V204L |
probably benign |
Het |
Tescl |
C |
A |
7: 24,033,098 (GRCm39) |
V76F |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,928,628 (GRCm39) |
Y2681N |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,713,769 (GRCm39) |
T2A |
probably damaging |
Het |
Vdac3-ps1 |
T |
A |
13: 18,205,431 (GRCm39) |
|
noncoding transcript |
Het |
Wapl |
T |
A |
14: 34,461,181 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Inppl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00899:Inppl1
|
APN |
7 |
101,478,365 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-12-18 |