Incidental Mutation 'R8707:Inppl1'
| ID |
669304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inppl1
|
| Ensembl Gene |
ENSMUSG00000032737 |
| Gene Name |
inositol polyphosphate phosphatase-like 1 |
| Synonyms |
SHIP2 |
| MMRRC Submission |
068561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R8707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101471839-101487419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101478903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 33
(A33V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
| AlphaFold |
Q6P549 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035836
|
| SMART Domains |
Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
| 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 benign
Transcript: ENSMUST00000165052
|
| SMART Domains |
Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
| 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 benign
Transcript: ENSMUST00000185929
|
| SMART Domains |
Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
| 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 |
probably benign
Transcript: ENSMUST00000186316
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb18 |
A |
G |
1: 89,920,857 (GRCm39) |
L140P |
probably damaging |
Het |
| Ccdc8 |
C |
T |
7: 16,729,975 (GRCm39) |
A488V |
unknown |
Het |
| Cfap57 |
C |
A |
4: 118,450,203 (GRCm39) |
V640F |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,375 (GRCm39) |
T127S |
probably benign |
Het |
| Dars2 |
A |
G |
1: 160,884,081 (GRCm39) |
C263R |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,069,847 (GRCm39) |
M1135V |
probably damaging |
Het |
| Echdc2 |
G |
A |
4: 108,031,028 (GRCm39) |
R169Q |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,819,920 (GRCm39) |
A2549V |
probably benign |
Het |
| Fermt1 |
G |
A |
2: 132,766,881 (GRCm39) |
T362I |
probably benign |
Het |
| Fev |
A |
G |
1: 74,924,316 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,073,070 (GRCm39) |
D404V |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igfals |
C |
A |
17: 25,099,185 (GRCm39) |
A92E |
possibly damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,449 (GRCm39) |
V333A |
possibly damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,791,234 (GRCm39) |
R393* |
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,416 (GRCm39) |
C109S |
probably benign |
Het |
| Ms4a12 |
A |
G |
19: 11,192,736 (GRCm39) |
V200A |
possibly damaging |
Het |
| Mtnr1b |
C |
A |
9: 15,785,809 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
A |
16: 48,973,450 (GRCm39) |
C1240Y |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,552,875 (GRCm39) |
Y199C |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,510,359 (GRCm39) |
L47P |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,039 (GRCm39) |
T358I |
probably damaging |
Het |
| Pop1 |
C |
T |
15: 34,529,349 (GRCm39) |
T823I |
probably benign |
Het |
| Rad54l |
A |
G |
4: 115,954,533 (GRCm39) |
V690A |
probably benign |
Het |
| Setdb2 |
G |
A |
14: 59,660,907 (GRCm39) |
Q79* |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,070,197 (GRCm39) |
E2530* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,752,319 (GRCm39) |
D1012G |
probably benign |
Het |
| Thbs2 |
C |
T |
17: 14,911,645 (GRCm39) |
G11D |
probably damaging |
Het |
| Tmem177 |
G |
A |
1: 119,838,070 (GRCm39) |
A203V |
probably benign |
Het |
| Trappc3l |
A |
G |
10: 33,978,727 (GRCm39) |
Y177C |
unknown |
Het |
| Ube2d1 |
T |
C |
10: 71,092,478 (GRCm39) |
D122G |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,412,965 (GRCm39) |
T116A |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,540 (GRCm39) |
V213E |
unknown |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGTCAGGCATAGACAAG -3'
(R):5'- TTCCAGCCCCAAGAGAGATC -3'
Sequencing Primer
(F):5'- CTGAGGCAATGGGGGTCTC -3'
(R):5'- GCCCCAAGAGAGATCACTAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation