Incidental Mutation 'IGL02536:Inpp5a'
| ID |
297503 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inpp5a
|
| Ensembl Gene |
ENSMUSG00000025477 |
| Gene Name |
inositol polyphosphate-5-phosphatase A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138969025-139159568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139147338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 321
(I321T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097975]
[ENSMUST00000106098]
|
| AlphaFold |
Q7TNC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026550
AA Change: I321T
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
AA Change: I321T
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097975
AA Change: I329T
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
AA Change: I329T
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
25 |
408 |
1.84e-150 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106098
AA Change: I321T
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
AA Change: I321T
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152475
|
| 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 a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a gene trapped allele show preweaning lethality, while surviving mice exhibit decreased body size, small cerebellum, and early-onset, slowly progressive Purkinje cell degeneration, gliosis, and ataxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,685,665 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
C |
T |
11: 109,872,574 (GRCm39) |
R9H |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,873,368 (GRCm39) |
S858T |
probably benign |
Het |
| Alg1 |
C |
T |
16: 5,057,023 (GRCm39) |
Q245* |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,813,910 (GRCm39) |
Y423C |
probably damaging |
Het |
| Anp32a |
A |
T |
9: 62,279,110 (GRCm39) |
T55S |
probably damaging |
Het |
| Arhgef9 |
A |
C |
X: 94,102,443 (GRCm39) |
V406G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,259 (GRCm39) |
F275S |
possibly damaging |
Het |
| Card9 |
C |
T |
2: 26,248,844 (GRCm39) |
V102I |
possibly damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,526,788 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,910,913 (GRCm39) |
D915V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,754 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,435,540 (GRCm39) |
T827A |
probably benign |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,112,035 (GRCm39) |
E1885G |
probably damaging |
Het |
| Fstl4 |
C |
T |
11: 53,024,851 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
T |
A |
14: 44,575,015 (GRCm39) |
N57I |
probably damaging |
Het |
| Gnl2 |
C |
T |
4: 124,946,401 (GRCm39) |
Q541* |
probably null |
Het |
| Igkv3-1 |
T |
C |
6: 70,681,035 (GRCm39) |
V78A |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,951,959 (GRCm39) |
S1746T |
probably benign |
Het |
| Lrrc8c |
T |
C |
5: 105,755,038 (GRCm39) |
I271T |
probably benign |
Het |
| Mrps10 |
T |
C |
17: 47,685,928 (GRCm39) |
Y152H |
probably damaging |
Het |
| Myl9 |
C |
T |
2: 156,620,469 (GRCm39) |
S2L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,938,103 (GRCm39) |
H870Q |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,067,367 (GRCm39) |
I456F |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,009,723 (GRCm39) |
H550R |
probably benign |
Het |
| Or13f5 |
T |
A |
4: 52,825,817 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,320,164 (GRCm39) |
I25F |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,460 (GRCm39) |
L144P |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,903,300 (GRCm39) |
I230F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,216,063 (GRCm39) |
V2275A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,971,707 (GRCm39) |
T465I |
probably benign |
Het |
| Pnkd |
G |
A |
1: 74,391,059 (GRCm39) |
R415H |
probably damaging |
Het |
| Prdx4 |
T |
A |
X: 154,115,443 (GRCm39) |
I132F |
probably damaging |
Het |
| Pvr |
A |
G |
7: 19,652,717 (GRCm39) |
M66T |
probably benign |
Het |
| Rnf216 |
A |
G |
5: 143,065,995 (GRCm39) |
I531T |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,809,439 (GRCm39) |
F405Y |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,452,679 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,513 (GRCm39) |
K12R |
probably benign |
Het |
| Slc17a7 |
A |
G |
7: 44,820,370 (GRCm39) |
E275G |
probably damaging |
Het |
| Tnpo2 |
A |
T |
8: 85,771,696 (GRCm39) |
I245F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,689,463 (GRCm39) |
|
probably null |
Het |
| Yju2b |
A |
T |
8: 84,987,245 (GRCm39) |
Y109* |
probably null |
Het |
| Zcchc4 |
C |
T |
5: 52,965,658 (GRCm39) |
R321W |
probably damaging |
Het |
|
| Other mutations in Inpp5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Inpp5a
|
APN |
7 |
139,096,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01354:Inpp5a
|
APN |
7 |
139,118,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01734:Inpp5a
|
APN |
7 |
139,034,006 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03023:Inpp5a
|
APN |
7 |
139,105,702 (GRCm39) |
splice site |
probably null |
|
|
IGL03390:Inpp5a
|
APN |
7 |
139,105,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
Anza
|
UTSW |
7 |
139,105,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
borrego
|
UTSW |
7 |
139,105,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cervicalis
|
UTSW |
7 |
139,061,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Joshua_tree
|
UTSW |
7 |
139,154,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Inpp5a
|
UTSW |
7 |
139,091,369 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0724:Inpp5a
|
UTSW |
7 |
139,096,579 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0940:Inpp5a
|
UTSW |
7 |
139,105,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1258:Inpp5a
|
UTSW |
7 |
139,105,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Inpp5a
|
UTSW |
7 |
139,154,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2328:Inpp5a
|
UTSW |
7 |
139,058,010 (GRCm39) |
nonsense |
probably null |
|
|
R4223:Inpp5a
|
UTSW |
7 |
139,138,821 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4307:Inpp5a
|
UTSW |
7 |
139,154,879 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4703:Inpp5a
|
UTSW |
7 |
139,138,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Inpp5a
|
UTSW |
7 |
139,057,921 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4997:Inpp5a
|
UTSW |
7 |
138,980,654 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5762:Inpp5a
|
UTSW |
7 |
139,118,097 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6014:Inpp5a
|
UTSW |
7 |
139,154,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Inpp5a
|
UTSW |
7 |
138,980,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7255:Inpp5a
|
UTSW |
7 |
139,091,364 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7324:Inpp5a
|
UTSW |
7 |
139,105,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Inpp5a
|
UTSW |
7 |
139,158,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7561:Inpp5a
|
UTSW |
7 |
139,147,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7748:Inpp5a
|
UTSW |
7 |
139,154,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8178:Inpp5a
|
UTSW |
7 |
139,118,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Inpp5a
|
UTSW |
7 |
139,061,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8839:Inpp5a
|
UTSW |
7 |
138,969,349 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9242:Inpp5a
|
UTSW |
7 |
139,061,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9340:Inpp5a
|
UTSW |
7 |
138,969,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Inpp5a
|
UTSW |
7 |
139,105,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation