Incidental Mutation 'R8154:Inpp5f'
ID |
633206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5f
|
Ensembl Gene |
ENSMUSG00000042105 |
Gene Name |
inositol polyphosphate-5-phosphatase F |
Synonyms |
cI-27, 5830435P03Rik, SAC2 |
MMRRC Submission |
067580-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R8154 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 128265991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 211
(W211G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
|
AlphaFold |
Q8CDA1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043138
AA Change: W211G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000045910 Gene: ENSMUSG00000042105 AA Change: W211G
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810037I17Rik |
G |
T |
3: 122,718,142 (GRCm39) |
G12C |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,424 (GRCm39) |
I600N |
probably damaging |
Het |
Adamts10 |
C |
A |
17: 33,756,902 (GRCm39) |
P357T |
probably damaging |
Het |
Bmyc |
T |
A |
2: 25,597,346 (GRCm39) |
S137T |
probably damaging |
Het |
Bpifa1 |
T |
A |
2: 153,987,654 (GRCm39) |
M168K |
possibly damaging |
Het |
Card11 |
T |
G |
5: 140,886,732 (GRCm39) |
K339T |
probably damaging |
Het |
Ccdc149 |
C |
T |
5: 52,542,446 (GRCm39) |
|
probably null |
Het |
Ccr9 |
T |
C |
9: 123,608,896 (GRCm39) |
S193P |
probably benign |
Het |
Cracd |
A |
T |
5: 76,989,644 (GRCm39) |
E62D |
unknown |
Het |
Csf2rb |
A |
G |
15: 78,224,642 (GRCm39) |
|
probably null |
Het |
Cux1 |
T |
C |
5: 136,281,434 (GRCm39) |
E576G |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,315,493 (GRCm39) |
N238S |
probably benign |
Het |
Dnaja3 |
C |
A |
16: 4,517,740 (GRCm39) |
T375K |
possibly damaging |
Het |
Espnl |
C |
T |
1: 91,252,921 (GRCm39) |
H217Y |
possibly damaging |
Het |
Exoc4 |
T |
C |
6: 33,887,473 (GRCm39) |
S754P |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,784,507 (GRCm39) |
D189G |
probably benign |
Het |
Gle1 |
T |
A |
2: 29,828,619 (GRCm39) |
|
probably null |
Het |
Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Gtf2i |
A |
T |
5: 134,280,721 (GRCm39) |
F583L |
probably benign |
Het |
Heatr9 |
T |
A |
11: 83,402,703 (GRCm39) |
Y532F |
possibly damaging |
Het |
Hic2 |
C |
T |
16: 17,076,344 (GRCm39) |
S391L |
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,656,652 (GRCm39) |
V905A |
probably damaging |
Het |
Katnip |
T |
C |
7: 125,412,802 (GRCm39) |
L382P |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,361,822 (GRCm39) |
Y1123F |
possibly damaging |
Het |
Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
Lmod3 |
T |
A |
6: 97,224,941 (GRCm39) |
K293N |
probably damaging |
Het |
Luzp1 |
T |
C |
4: 136,269,195 (GRCm39) |
S473P |
possibly damaging |
Het |
Lzic |
T |
A |
4: 149,573,141 (GRCm39) |
F98I |
probably damaging |
Het |
Map4k4 |
T |
G |
1: 40,060,302 (GRCm39) |
Y1030* |
probably null |
Het |
Miga1 |
A |
G |
3: 152,026,337 (GRCm39) |
|
probably benign |
Het |
Mrpl18 |
T |
C |
17: 13,130,608 (GRCm39) |
E167G |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,144,200 (GRCm39) |
E1190G |
probably damaging |
Het |
Ngef |
C |
T |
1: 87,468,482 (GRCm39) |
M92I |
probably benign |
Het |
Nlrc4 |
T |
A |
17: 74,752,904 (GRCm39) |
Y493F |
probably damaging |
Het |
Or52s19 |
A |
C |
7: 103,007,763 (GRCm39) |
C213G |
probably benign |
Het |
Otud7a |
C |
A |
7: 63,407,612 (GRCm39) |
F638L |
probably benign |
Het |
Padi2 |
T |
A |
4: 140,651,620 (GRCm39) |
|
probably null |
Het |
Pcdhgb1 |
A |
G |
18: 37,815,596 (GRCm39) |
I696V |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,304,948 (GRCm39) |
F1745S |
probably damaging |
Het |
Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
Prrc2b |
C |
T |
2: 32,108,689 (GRCm39) |
A1637V |
probably benign |
Het |
Rab3il1 |
A |
T |
19: 10,004,936 (GRCm39) |
M57L |
possibly damaging |
Het |
Rbl2 |
A |
G |
8: 91,833,825 (GRCm39) |
D885G |
probably damaging |
Het |
Rbm25 |
A |
G |
12: 83,691,205 (GRCm39) |
M47V |
unknown |
Het |
Rd3l |
T |
A |
12: 111,946,638 (GRCm39) |
H46L |
probably benign |
Het |
Scn5a |
C |
G |
9: 119,391,611 (GRCm39) |
R27P |
possibly damaging |
Het |
Set |
T |
A |
2: 29,959,100 (GRCm39) |
V99D |
probably benign |
Het |
Sh3tc1 |
T |
A |
5: 35,875,696 (GRCm39) |
I138F |
probably damaging |
Het |
Slf2 |
T |
A |
19: 44,923,596 (GRCm39) |
S137T |
possibly damaging |
Het |
Smg8 |
A |
T |
11: 86,976,063 (GRCm39) |
M506K |
possibly damaging |
Het |
Stpg2 |
G |
A |
3: 139,014,938 (GRCm39) |
V368M |
probably damaging |
Het |
Trav16d-dv11 |
T |
C |
14: 53,284,999 (GRCm39) |
V25A |
probably damaging |
Het |
Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
Vrk1 |
A |
G |
12: 106,036,793 (GRCm39) |
K360E |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,342,017 (GRCm39) |
H1419Q |
possibly damaging |
Het |
Yes1 |
T |
C |
5: 32,802,366 (GRCm39) |
F94L |
probably damaging |
Het |
Zc2hc1c |
T |
C |
12: 85,336,946 (GRCm39) |
L201P |
probably benign |
Het |
Zfp638 |
C |
T |
6: 83,954,391 (GRCm39) |
R1499W |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,897,157 (GRCm39) |
L589Q |
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 |
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 |
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 |
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'- TATAGCTTGACCTATGACCTGACC -3'
(R):5'- GCCATGGGCTATAAACCACC -3'
Sequencing Primer
(F):5'- TTGACCTATGACCTGACCAACTCG -3'
(R):5'- TGGGCTATAAACCACCTGAAGGC -3'
|
Posted On |
2020-06-30 |