Incidental Mutation 'R9544:Inpp5f'
ID |
719999 |
Institutional Source |
Beutler Lab
|
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 # |
R9544 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 128278515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 435
(D435A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
|
AlphaFold |
Q8CDA1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043138
AA Change: D435A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000045910 Gene: ENSMUSG00000042105 AA Change: D435A
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: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.7%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,202 (GRCm39) |
E82G |
possibly damaging |
Het |
Adra2a |
C |
G |
19: 54,035,454 (GRCm39) |
P270R |
probably benign |
Het |
Alox12b |
A |
T |
11: 69,054,812 (GRCm39) |
I272F |
possibly damaging |
Het |
Als2 |
C |
A |
1: 59,250,468 (GRCm39) |
E425D |
probably benign |
Het |
Arhgap21 |
C |
A |
2: 20,858,938 (GRCm39) |
C1252F |
possibly damaging |
Het |
Arhgap31 |
T |
G |
16: 38,423,976 (GRCm39) |
T697P |
probably damaging |
Het |
Aspm |
C |
A |
1: 139,385,523 (GRCm39) |
T389K |
probably benign |
Het |
B4galnt3 |
T |
A |
6: 120,209,905 (GRCm39) |
I73F |
probably damaging |
Het |
Btn2a2 |
A |
G |
13: 23,672,008 (GRCm39) |
V27A |
probably benign |
Het |
Cep97 |
A |
T |
16: 55,735,303 (GRCm39) |
N570K |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,036,266 (GRCm39) |
I751V |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,241,046 (GRCm39) |
C1516R |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,258,576 (GRCm39) |
F487L |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,348,186 (GRCm39) |
S266P |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,732,830 (GRCm39) |
Y1118* |
probably null |
Het |
Dolpp1 |
T |
A |
2: 30,282,515 (GRCm39) |
Y23N |
probably damaging |
Het |
Egf |
T |
C |
3: 129,511,617 (GRCm39) |
M517V |
probably benign |
Het |
Endou |
C |
A |
15: 97,609,969 (GRCm39) |
K442N |
probably damaging |
Het |
Fam210b |
C |
T |
2: 172,194,633 (GRCm39) |
R162W |
probably damaging |
Het |
Fbxw27 |
ATGT |
AT |
9: 109,602,322 (GRCm39) |
|
probably null |
Het |
Flt3 |
T |
A |
5: 147,291,442 (GRCm39) |
Q641L |
possibly damaging |
Het |
Ighv3-3 |
T |
A |
12: 114,160,270 (GRCm39) |
I47F |
probably damaging |
Het |
Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
Kcnq2 |
T |
G |
2: 180,729,407 (GRCm39) |
D532A |
probably damaging |
Het |
Krtap11-1 |
A |
C |
16: 89,368,062 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
T |
A |
16: 19,494,832 (GRCm39) |
|
probably null |
Het |
Lcn3 |
A |
T |
2: 25,656,151 (GRCm39) |
I69L |
probably benign |
Het |
Lrrc43 |
A |
T |
5: 123,641,307 (GRCm39) |
H497L |
probably damaging |
Het |
Luc7l2 |
T |
G |
6: 38,580,315 (GRCm39) |
S305A |
unknown |
Het |
Malrd1 |
C |
T |
2: 15,640,809 (GRCm39) |
T513I |
unknown |
Het |
Mllt3 |
T |
A |
4: 87,759,418 (GRCm39) |
D210V |
probably damaging |
Het |
Mmp14 |
A |
G |
14: 54,673,251 (GRCm39) |
H53R |
possibly damaging |
Het |
Ndst4 |
A |
C |
3: 125,476,808 (GRCm39) |
H11P |
probably damaging |
Het |
Nln |
G |
A |
13: 104,198,356 (GRCm39) |
T152M |
probably benign |
Het |
Oas1c |
A |
G |
5: 120,946,202 (GRCm39) |
F99L |
probably benign |
Het |
Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
Or1e35 |
T |
C |
11: 73,797,637 (GRCm39) |
K227R |
probably benign |
Het |
Or1j11 |
G |
T |
2: 36,311,784 (GRCm39) |
A125S |
probably damaging |
Het |
Or5w15 |
G |
A |
2: 87,568,644 (GRCm39) |
T8I |
probably benign |
Het |
Or7g25 |
T |
A |
9: 19,160,561 (GRCm39) |
I45F |
probably damaging |
Het |
Pappa2 |
C |
A |
1: 158,784,817 (GRCm39) |
Q64H |
probably damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,608,948 (GRCm39) |
F727L |
probably benign |
Het |
Pcsk1 |
A |
T |
13: 75,259,039 (GRCm39) |
N271I |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,410,239 (GRCm39) |
G2582D |
probably damaging |
Het |
Psma4 |
A |
T |
9: 54,862,245 (GRCm39) |
Q123L |
probably damaging |
Het |
Selenbp2 |
A |
T |
3: 94,605,368 (GRCm39) |
I127F |
possibly damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Slc29a3 |
G |
T |
10: 60,551,960 (GRCm39) |
C361* |
probably null |
Het |
Slx4 |
C |
A |
16: 3,797,917 (GRCm39) |
R1489L |
probably damaging |
Het |
Sorl1 |
A |
C |
9: 41,993,105 (GRCm39) |
Y306* |
probably null |
Het |
Tbc1d16 |
G |
T |
11: 119,101,335 (GRCm39) |
H58Q |
probably damaging |
Het |
Tfdp2 |
A |
G |
9: 96,169,663 (GRCm39) |
T5A |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,953,932 (GRCm39) |
G1061V |
probably damaging |
Het |
Timm29 |
G |
A |
9: 21,504,662 (GRCm39) |
R110H |
probably damaging |
Het |
Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,972,713 (GRCm39) |
T287A |
possibly damaging |
Het |
Unc119b |
G |
A |
5: 115,272,827 (GRCm39) |
T48M |
probably benign |
Het |
Vmn1r123 |
T |
C |
7: 20,896,987 (GRCm39) |
I293T |
probably benign |
Het |
Vmn2r67 |
G |
A |
7: 84,786,317 (GRCm39) |
H563Y |
possibly damaging |
Het |
Vps8 |
G |
T |
16: 21,336,893 (GRCm39) |
V763L |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,050,752 (GRCm39) |
Y722* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,920,756 (GRCm39) |
T1339A |
probably benign |
Het |
Zfp827 |
T |
A |
8: 79,905,604 (GRCm39) |
H860Q |
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 |
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 |
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'- GCCTGGACACACAGAGACTAAG -3'
(R):5'- GACCAAAAGTCAAAACAACGTTTT -3'
Sequencing Primer
(F):5'- TGCTGGCATTAAAACCTGAGC -3'
(R):5'- GTGCTTATGAGTCAGACGAACACTC -3'
|
Posted On |
2022-07-18 |