Incidental Mutation 'IGL01354:Inpp5a'
| ID |
75468 |
| 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 # |
IGL01354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139389109-139579652 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139538234 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 235
(F235L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097975]
[ENSMUST00000106098]
|
| AlphaFold |
Q7TNC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026550
AA Change: F235L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
AA Change: F235L
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097975
AA Change: F243L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
AA Change: F243L
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
25 |
408 |
1.84e-150 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106098
AA Change: F235L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
AA Change: F235L
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,527,376 (GRCm38) |
L41P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,968,889 (GRCm38) |
Q297R |
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,665,853 (GRCm38) |
Q184L |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,837,103 (GRCm38) |
D169G |
possibly damaging |
Het |
| Cyp2d34 |
G |
A |
15: 82,617,622 (GRCm38) |
T229M |
probably benign |
Het |
| Fgd5 |
C |
T |
6: 92,061,843 (GRCm38) |
R995* |
probably null |
Het |
| Gaa |
T |
C |
11: 119,270,568 (GRCm38) |
S146P |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,167,318 (GRCm38) |
|
probably benign |
Het |
| Lpp |
T |
A |
16: 24,762,066 (GRCm38) |
Y177* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,475,191 (GRCm38) |
Y654C |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,564,197 (GRCm38) |
I92T |
probably damaging |
Het |
| Or4k52 |
A |
C |
2: 111,780,901 (GRCm38) |
N194H |
possibly damaging |
Het |
| Or8b4 |
G |
A |
9: 37,919,544 (GRCm38) |
V301I |
possibly damaging |
Het |
| Otog |
A |
G |
7: 46,289,726 (GRCm38) |
N2060S |
probably damaging |
Het |
| Phc1 |
G |
A |
6: 122,334,083 (GRCm38) |
T98I |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 99,064,168 (GRCm38) |
I535T |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,762,435 (GRCm38) |
I712V |
probably benign |
Het |
| Psmc2 |
A |
G |
5: 21,795,836 (GRCm38) |
E103G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,343,891 (GRCm38) |
I1405V |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,777,316 (GRCm38) |
N260D |
possibly damaging |
Het |
| Reln |
G |
A |
5: 21,919,175 (GRCm38) |
Q2778* |
probably null |
Het |
| Slco1a8 |
T |
C |
6: 141,990,408 (GRCm38) |
N317S |
probably benign |
Het |
| Sptlc1 |
T |
A |
13: 53,333,951 (GRCm38) |
Q452L |
probably benign |
Het |
| Traf4 |
C |
A |
11: 78,165,400 (GRCm38) |
R14L |
possibly damaging |
Het |
| Ubap2 |
T |
C |
4: 41,207,005 (GRCm38) |
E191G |
probably damaging |
Het |
| Vstm4 |
A |
T |
14: 32,919,245 (GRCm38) |
T262S |
probably benign |
Het |
| Zrsr2-ps1 |
T |
A |
11: 22,974,190 (GRCm38) |
H321Q |
probably damaging |
Het |
|
| Other mutations in Inpp5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Inpp5a
|
APN |
7 |
139,516,721 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01734:Inpp5a
|
APN |
7 |
139,454,090 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02536:Inpp5a
|
APN |
7 |
139,567,422 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL03023:Inpp5a
|
APN |
7 |
139,525,786 (GRCm38) |
splice site |
probably null |
|
|
IGL03390:Inpp5a
|
APN |
7 |
139,525,748 (GRCm38) |
missense |
probably benign |
0.01 |
|
Anza
|
UTSW |
7 |
139,525,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
borrego
|
UTSW |
7 |
139,525,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Cervicalis
|
UTSW |
7 |
139,481,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Joshua_tree
|
UTSW |
7 |
139,574,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Inpp5a
|
UTSW |
7 |
139,511,453 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0724:Inpp5a
|
UTSW |
7 |
139,516,663 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0940:Inpp5a
|
UTSW |
7 |
139,525,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1258:Inpp5a
|
UTSW |
7 |
139,525,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2112:Inpp5a
|
UTSW |
7 |
139,574,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2328:Inpp5a
|
UTSW |
7 |
139,478,094 (GRCm38) |
nonsense |
probably null |
|
|
R4223:Inpp5a
|
UTSW |
7 |
139,558,905 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4307:Inpp5a
|
UTSW |
7 |
139,574,963 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4703:Inpp5a
|
UTSW |
7 |
139,558,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4781:Inpp5a
|
UTSW |
7 |
139,478,005 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4997:Inpp5a
|
UTSW |
7 |
139,400,738 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5762:Inpp5a
|
UTSW |
7 |
139,538,181 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6014:Inpp5a
|
UTSW |
7 |
139,574,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6381:Inpp5a
|
UTSW |
7 |
139,400,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7255:Inpp5a
|
UTSW |
7 |
139,511,448 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7324:Inpp5a
|
UTSW |
7 |
139,525,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7362:Inpp5a
|
UTSW |
7 |
139,578,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7561:Inpp5a
|
UTSW |
7 |
139,567,422 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7748:Inpp5a
|
UTSW |
7 |
139,574,995 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8178:Inpp5a
|
UTSW |
7 |
139,538,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8253:Inpp5a
|
UTSW |
7 |
139,481,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8839:Inpp5a
|
UTSW |
7 |
139,389,433 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9242:Inpp5a
|
UTSW |
7 |
139,481,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9340:Inpp5a
|
UTSW |
7 |
139,389,464 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Inpp5a
|
UTSW |
7 |
139,525,775 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation