Incidental Mutation 'R5234:Inpp5f'
ID |
398218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5f
|
Ensembl Gene |
ENSMUSG00000042105 |
Gene Name |
inositol polyphosphate-5-phosphatase F |
Synonyms |
cI-27, 5830435P03Rik, SAC2 |
MMRRC Submission |
042806-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R5234 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128265407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 121
(I121V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
|
AlphaFold |
Q8CDA1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043138
AA Change: I121V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000045910 Gene: ENSMUSG00000042105 AA Change: I121V
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 |
noncoding transcript
Transcript: ENSMUST00000098007
|
SMART Domains |
Protein: ENSMUSP00000095616 Gene: ENSMUSG00000042105
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
48 |
410 |
1.2e-79 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148815
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,630,130 (GRCm39) |
Y1091C |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
Bcan |
A |
T |
3: 87,903,453 (GRCm39) |
D246E |
probably damaging |
Het |
Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
Espnl |
A |
G |
1: 91,272,515 (GRCm39) |
D581G |
probably benign |
Het |
Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,185,839 (GRCm39) |
Y54* |
probably null |
Het |
Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,892,145 (GRCm39) |
S238C |
probably damaging |
Het |
Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
Ttll11 |
A |
C |
2: 35,830,745 (GRCm39) |
Y209D |
probably damaging |
Het |
Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
possibly 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 |
IGL02092:Inpp5f
|
APN |
7 |
128,286,948 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCATAGCTATATCCTGCCTGC -3'
(R):5'- CCAAACACAGGACTGTCTTCTG -3'
Sequencing Primer
(F):5'- ATAGCTATATCCTGCCTGCTTAGTC -3'
(R):5'- ACACAGGACTGTCTTCTGATATAC -3'
|
Posted On |
2016-07-06 |