Incidental Mutation 'IGL01678:Inppl1'
| ID |
103707 |
| 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 # |
IGL01678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101471839-101487419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101481803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 180
(T180A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
| AlphaFold |
Q6P549 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035836
AA Change: T180A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: T180A
| 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 |
noncoding transcript
Transcript: ENSMUST00000098239
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165052
AA Change: T180A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: T180A
| 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
AA Change: T180A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: T180A
| 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 |
noncoding transcript
Transcript: ENSMUST00000209481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210116
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
| Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,790 (GRCm39) |
V317A |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
| Klhdc4 |
T |
C |
8: 122,523,677 (GRCm39) |
D513G |
possibly damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
| Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,537 (GRCm39) |
D173A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
| Sirpb1a |
G |
T |
3: 15,476,370 (GRCm39) |
S142R |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
| Top6bl |
T |
A |
19: 4,722,193 (GRCm39) |
I76L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
| Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,679,558 (GRCm39) |
|
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,392,064 (GRCm39) |
C7S |
probably damaging |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation