Incidental Mutation 'R7428:Inpp5f'
ID |
576247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5f
|
Ensembl Gene |
ENSMUSG00000042105 |
Gene Name |
inositol polyphosphate-5-phosphatase F |
Synonyms |
cI-27, 5830435P03Rik, SAC2 |
MMRRC Submission |
045506-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R7428 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128281529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 510
(D510G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
|
AlphaFold |
Q8CDA1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043138
AA Change: D510G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045910 Gene: ENSMUSG00000042105 AA Change: D510G
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 |
|
Meta Mutation Damage Score |
0.9551 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (71/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa10 |
T |
A |
8: 62,545,543 (GRCm39) |
Y63F |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,183,227 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
A |
G |
5: 123,648,794 (GRCm39) |
N53S |
probably damaging |
Het |
Bpifb5 |
G |
A |
2: 154,067,042 (GRCm39) |
M98I |
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 28,786,232 (GRCm39) |
M585T |
probably damaging |
Het |
Cbarp |
T |
C |
10: 79,967,138 (GRCm39) |
D701G |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,244,794 (GRCm39) |
S1221P |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,770,365 (GRCm39) |
S1842G |
probably benign |
Het |
Cntrl |
T |
A |
2: 35,060,546 (GRCm39) |
W1913R |
probably benign |
Het |
Creb5 |
C |
A |
6: 53,658,143 (GRCm39) |
Q158K |
unknown |
Het |
Crtam |
G |
C |
9: 40,892,478 (GRCm39) |
A266G |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,243,392 (GRCm39) |
D483G |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 16,073,864 (GRCm39) |
F2044L |
possibly damaging |
Het |
Cxcr6 |
A |
T |
9: 123,639,305 (GRCm39) |
Y109F |
probably benign |
Het |
Cyb5b |
A |
G |
8: 107,897,048 (GRCm39) |
D106G |
probably benign |
Het |
D630036H23Rik |
T |
C |
12: 36,431,537 (GRCm39) |
R154G |
unknown |
Het |
Ddit4l |
A |
G |
3: 137,331,931 (GRCm39) |
E99G |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,710,192 (GRCm39) |
T1495S |
possibly damaging |
Het |
Gm21886 |
A |
T |
18: 80,132,867 (GRCm39) |
L97Q |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,068,758 (GRCm39) |
V154A |
probably benign |
Het |
Hpdl |
A |
T |
4: 116,678,062 (GRCm39) |
L133Q |
probably damaging |
Het |
Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,025,909 (GRCm39) |
I1422T |
probably benign |
Het |
Leng8 |
C |
T |
7: 4,146,572 (GRCm39) |
R395W |
probably damaging |
Het |
Mocs2 |
A |
G |
13: 114,957,400 (GRCm39) |
I6V |
probably benign |
Het |
Mthfr |
A |
G |
4: 148,136,060 (GRCm39) |
M378V |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,223,390 (GRCm39) |
T237A |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,334,267 (GRCm39) |
E41G |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,204,494 (GRCm39) |
I1460N |
probably damaging |
Het |
Nup98 |
A |
T |
7: 101,784,208 (GRCm39) |
|
probably null |
Het |
Nxpe5 |
A |
C |
5: 138,238,022 (GRCm39) |
Y194S |
probably damaging |
Het |
Or12e9 |
G |
T |
2: 87,202,034 (GRCm39) |
V53L |
probably benign |
Het |
Or52m1 |
A |
G |
7: 102,289,533 (GRCm39) |
I27V |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,475 (GRCm39) |
R308* |
probably null |
Het |
Or5m3 |
A |
T |
2: 85,838,563 (GRCm39) |
I148L |
probably benign |
Het |
Or9s18 |
A |
G |
13: 65,300,866 (GRCm39) |
Y276C |
probably damaging |
Het |
Otof |
G |
T |
5: 30,547,169 (GRCm39) |
D383E |
probably damaging |
Het |
Pcdh9 |
G |
T |
14: 94,124,547 (GRCm39) |
T541K |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,800,531 (GRCm39) |
I1179F |
|
Het |
Pde6c |
T |
C |
19: 38,145,984 (GRCm39) |
|
probably null |
Het |
Pdia6 |
T |
C |
12: 17,328,546 (GRCm39) |
V167A |
probably damaging |
Het |
Phf7 |
C |
T |
14: 30,962,370 (GRCm39) |
R145Q |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,937,236 (GRCm39) |
V1139A |
probably benign |
Het |
Prkg1 |
T |
C |
19: 30,556,235 (GRCm39) |
I585M |
probably damaging |
Het |
Prom2 |
A |
G |
2: 127,381,731 (GRCm39) |
L195P |
probably damaging |
Het |
Ptprd |
G |
A |
4: 76,004,705 (GRCm39) |
P17S |
probably benign |
Het |
Rfx4 |
C |
A |
10: 84,731,876 (GRCm39) |
Q618K |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,084,654 (GRCm39) |
I15N |
probably damaging |
Het |
Sap30 |
C |
T |
8: 57,940,546 (GRCm39) |
V19M |
possibly damaging |
Het |
Scrib |
G |
A |
15: 75,933,047 (GRCm39) |
T721M |
probably damaging |
Het |
Slc12a1 |
C |
A |
2: 125,056,052 (GRCm39) |
T861N |
probably benign |
Het |
Slc35f1 |
T |
A |
10: 52,965,510 (GRCm39) |
S308R |
probably damaging |
Het |
Slc35f4 |
T |
A |
14: 49,536,355 (GRCm39) |
I427F |
probably damaging |
Het |
Slco4c1 |
T |
C |
1: 96,765,245 (GRCm39) |
T402A |
possibly damaging |
Het |
Sprr2f |
G |
A |
3: 92,273,251 (GRCm39) |
V17M |
unknown |
Het |
Stab1 |
T |
C |
14: 30,881,216 (GRCm39) |
T605A |
probably benign |
Het |
Taar8c |
A |
C |
10: 23,977,446 (GRCm39) |
L122R |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,649,965 (GRCm39) |
P24S |
probably benign |
Het |
Tex36 |
T |
C |
7: 133,196,866 (GRCm39) |
|
probably null |
Het |
Tmem145 |
T |
C |
7: 25,006,590 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
G |
2: 76,550,698 (GRCm39) |
D31528A |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,977,578 (GRCm39) |
V118E |
probably benign |
Het |
Vmn1r195 |
T |
C |
13: 22,463,022 (GRCm39) |
V164A |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,060,467 (GRCm39) |
I372M |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
Wnt9b |
T |
C |
11: 103,621,643 (GRCm39) |
Q338R |
probably benign |
Het |
Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
Zfp541 |
A |
T |
7: 15,826,793 (GRCm39) |
R1181W |
probably damaging |
Het |
Zfp867 |
C |
T |
11: 59,354,760 (GRCm39) |
G190S |
probably benign |
Het |
Zfp971 |
T |
A |
2: 177,674,967 (GRCm39) |
C189S |
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 |
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'- GGTCCCAAATTATGTCAGCTTTCC -3'
(R):5'- CTGTCATAGCCAAACATTCCAGAG -3'
Sequencing Primer
(F):5'- AGCTTTCCCTCTTTTTCTGTAATAC -3'
(R):5'- TAGCCAAACATTCCAGAGATAAATC -3'
|
Posted On |
2019-10-07 |