Incidental Mutation 'R6227:Inppl1'
| ID |
504399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inppl1
|
| Ensembl Gene |
ENSMUSG00000032737 |
| Gene Name |
inositol polyphosphate phosphatase-like 1 |
| Synonyms |
SHIP2 |
| MMRRC Submission |
044398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R6227 (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 101473506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1048
(T1048M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008090]
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
| AlphaFold |
Q6P549 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008090
|
| SMART Domains |
Protein: ENSMUSP00000008090
Gene: ENSMUSG00000007946
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
HOX
|
90 |
152 |
5.75e-27 |
SMART |
|
low complexity region
|
183 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035836
AA Change: T1048M
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: T1048M
| 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: T1048M
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: T1048M
| 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: T1048M
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: T1048M
| 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: T467M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211436
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (61/63) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
C |
2: 19,558,581 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
A |
3: 121,930,743 (GRCm39) |
Y205* |
probably null |
Het |
| Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,841 (GRCm39) |
D550G |
possibly damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,674 (GRCm39) |
Y462* |
probably null |
Het |
| Cfap97 |
T |
C |
8: 46,644,769 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,258,900 (GRCm39) |
Y706* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,621 (GRCm39) |
D3443G |
probably benign |
Het |
| Fktn |
C |
T |
4: 53,731,136 (GRCm39) |
A96V |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,976,097 (GRCm39) |
T1092A |
probably benign |
Het |
| Lactbl1 |
C |
A |
4: 136,365,229 (GRCm39) |
A527E |
probably benign |
Het |
| Miga1 |
C |
T |
3: 151,984,586 (GRCm39) |
A510T |
probably benign |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Naca |
T |
G |
10: 127,879,785 (GRCm39) |
|
probably benign |
Het |
| Or51f5 |
A |
T |
7: 102,423,883 (GRCm39) |
I51F |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,829,917 (GRCm39) |
Y216C |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,747,536 (GRCm39) |
T204S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,783,862 (GRCm39) |
M1986K |
probably damaging |
Het |
| Pex6 |
T |
A |
17: 47,023,034 (GRCm39) |
D203E |
probably benign |
Het |
| Rlbp1 |
T |
C |
7: 79,029,876 (GRCm39) |
N119S |
probably benign |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Rusc1 |
T |
A |
3: 88,999,048 (GRCm39) |
T245S |
probably benign |
Het |
| Slc26a5 |
A |
T |
5: 22,026,095 (GRCm39) |
C378S |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,477,624 (GRCm39) |
|
probably benign |
Het |
| Tes3-ps |
T |
C |
13: 49,647,516 (GRCm39) |
C131R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,911,190 (GRCm39) |
E331G |
probably null |
Het |
| Tlr4 |
T |
C |
4: 66,758,832 (GRCm39) |
Y542H |
probably benign |
Het |
| Trf |
G |
A |
9: 103,107,504 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,435,748 (GRCm39) |
H234L |
probably benign |
Het |
| Zan |
T |
G |
5: 137,466,605 (GRCm39) |
R417S |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,776,996 (GRCm39) |
T349A |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCCATTTGCAGTACCG -3'
(R):5'- TTGAAGGGGTCCCACATCAG -3'
Sequencing Primer
(F):5'- GGCCATTTGCAGTACCGAACAAG -3'
(R):5'- GTCCCACATCAGCTGCTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation