Incidental Mutation 'PIT4402001:Inpp5a'
ID |
555525 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5a
|
Ensembl Gene |
ENSMUSG00000025477 |
Gene Name |
inositol polyphosphate-5-phosphatase A |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
PIT4402001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
138969025-139159568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139091369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 118
(Y118H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097975]
[ENSMUST00000106098]
|
AlphaFold |
Q7TNC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026550
AA Change: Y118H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000026550 Gene: ENSMUSG00000025477 AA Change: Y118H
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: Y126H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000095589 Gene: ENSMUSG00000025477 AA Change: Y126H
Domain | Start | End | E-Value | Type |
IPPc
|
25 |
408 |
1.84e-150 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106098
AA Change: Y118H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000101704 Gene: ENSMUSG00000025477 AA Change: Y118H
Domain | Start | End | E-Value | Type |
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
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 |
1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
IGL02536:Inpp5a
|
APN |
7 |
139,147,338 (GRCm39) |
missense |
probably benign |
0.17 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGTTCACCTCTGCACTGTG -3'
(R):5'- TTGGCATGTGACCCAGGATG -3'
Sequencing Primer
(F):5'- CTCTGCACTGTGCTGGCTG -3'
(R):5'- GGCACCTCTCCTCAGGG -3'
|
Posted On |
2019-06-07 |