Incidental Mutation 'IGL02092:Inpp5f'
| ID |
279466 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inpp5f
|
| Ensembl Gene |
ENSMUSG00000042105 |
| Gene Name |
inositol polyphosphate-5-phosphatase F |
| Synonyms |
cI-27, 5830435P03Rik, SAC2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128286948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 609
(L609S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
[ENSMUST00000118605]
[ENSMUST00000151237]
[ENSMUST00000202419]
|
| AlphaFold |
Q8CDA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043138
AA Change: L609S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: L609S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
49 |
416 |
1.2e-85 |
PFAM |
|
Blast:IPPc
|
449 |
568 |
6e-13 |
BLAST |
|
Pfam:hSac2
|
590 |
698 |
9.1e-25 |
PFAM |
|
low complexity region
|
1042 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1059 |
1065 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118605
|
| SMART Domains |
Protein: ENSMUSP00000113700
Gene: ENSMUSG00000042105
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hSac2
|
1 |
73 |
8.9e-21 |
PFAM |
|
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151237
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202419
|
| SMART Domains |
Protein: ENSMUSP00000143952
Gene: ENSMUSG00000042105
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:VMA21
|
30 |
84 |
9.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202892
|
| 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 inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
| Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
probably damaging |
Het |
|
| Other mutations in Inpp5f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Inpp5f
|
APN |
7 |
128,265,991 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01316:Inpp5f
|
APN |
7 |
128,292,430 (GRCm39) |
splice site |
probably benign |
|
|
IGL01455:Inpp5f
|
APN |
7 |
128,279,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01471:Inpp5f
|
APN |
7 |
128,277,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01590:Inpp5f
|
APN |
7 |
128,266,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01942:Inpp5f
|
APN |
7 |
128,269,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02137:Inpp5f
|
APN |
7 |
128,296,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Inpp5f
|
APN |
7 |
128,265,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Inpp5f
|
APN |
7 |
128,284,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Inpp5f
|
APN |
7 |
128,296,624 (GRCm39) |
missense |
probably benign |
0.29 |
|
PIT4480001:Inpp5f
|
UTSW |
7 |
128,286,858 (GRCm39) |
missense |
probably benign |
0.32 |
|
PIT4812001:Inpp5f
|
UTSW |
7 |
128,294,032 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0243:Inpp5f
|
UTSW |
7 |
128,296,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Inpp5f
|
UTSW |
7 |
128,292,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Inpp5f
|
UTSW |
7 |
128,296,307 (GRCm39) |
missense |
probably benign |
|
|
R1375:Inpp5f
|
UTSW |
7 |
128,265,753 (GRCm39) |
nonsense |
probably null |
|
|
R1918:Inpp5f
|
UTSW |
7 |
128,265,693 (GRCm39) |
splice site |
probably benign |
|
|
R2307:Inpp5f
|
UTSW |
7 |
128,296,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Inpp5f
|
UTSW |
7 |
128,292,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Inpp5f
|
UTSW |
7 |
128,281,423 (GRCm39) |
intron |
probably benign |
|
|
R4647:Inpp5f
|
UTSW |
7 |
128,260,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4705:Inpp5f
|
UTSW |
7 |
128,265,711 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4713:Inpp5f
|
UTSW |
7 |
128,265,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4818:Inpp5f
|
UTSW |
7 |
128,286,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Inpp5f
|
UTSW |
7 |
128,286,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Inpp5f
|
UTSW |
7 |
128,286,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Inpp5f
|
UTSW |
7 |
128,286,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Inpp5f
|
UTSW |
7 |
128,278,451 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5181:Inpp5f
|
UTSW |
7 |
128,281,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Inpp5f
|
UTSW |
7 |
128,265,407 (GRCm39) |
missense |
probably benign |
|
|
R6299:Inpp5f
|
UTSW |
7 |
128,237,884 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6389:Inpp5f
|
UTSW |
7 |
128,279,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Inpp5f
|
UTSW |
7 |
128,265,802 (GRCm39) |
nonsense |
probably null |
|
|
R6545:Inpp5f
|
UTSW |
7 |
128,296,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7259:Inpp5f
|
UTSW |
7 |
128,271,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7383:Inpp5f
|
UTSW |
7 |
128,296,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Inpp5f
|
UTSW |
7 |
128,281,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Inpp5f
|
UTSW |
7 |
128,281,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Inpp5f
|
UTSW |
7 |
128,296,247 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7809:Inpp5f
|
UTSW |
7 |
128,269,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Inpp5f
|
UTSW |
7 |
128,296,526 (GRCm39) |
missense |
probably benign |
|
|
R7912:Inpp5f
|
UTSW |
7 |
128,294,037 (GRCm39) |
missense |
probably benign |
|
|
R7915:Inpp5f
|
UTSW |
7 |
128,269,433 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7960:Inpp5f
|
UTSW |
7 |
128,295,638 (GRCm39) |
splice site |
probably null |
|
|
R8027:Inpp5f
|
UTSW |
7 |
128,292,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Inpp5f
|
UTSW |
7 |
128,265,991 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8213:Inpp5f
|
UTSW |
7 |
128,281,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Inpp5f
|
UTSW |
7 |
128,295,437 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9519:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9544:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9597:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9598:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9634:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9701:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9702:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9784:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9802:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9803:Inpp5f
|
UTSW |
7 |
128,278,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
RF001:Inpp5f
|
UTSW |
7 |
128,296,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Inpp5f
|
UTSW |
7 |
128,284,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Inpp5f
|
UTSW |
7 |
128,296,673 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2015-04-16 |
Incidental Mutation