Incidental Mutation 'R7427:Inpp5f'
| ID |
576178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5f
|
| Ensembl Gene |
ENSMUSG00000042105 |
| Gene Name |
inositol polyphosphate-5-phosphatase F |
| Synonyms |
cI-27, 5830435P03Rik, SAC2 |
| MMRRC Submission |
045505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R7427 (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: 99.4%
|
| Validation Efficiency |
100% (78/78) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
T |
A |
15: 76,478,585 (GRCm39) |
C318S |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,385,354 (GRCm39) |
C333S |
probably benign |
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 |
| Ccn2 |
T |
G |
10: 24,473,397 (GRCm39) |
M312R |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,060,546 (GRCm39) |
W1913R |
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 |
| Cxcl16 |
A |
G |
11: 70,349,630 (GRCm39) |
V78A |
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 |
| Dnah9 |
T |
C |
11: 65,846,045 (GRCm39) |
T2998A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,286,988 (GRCm39) |
S1254P |
unknown |
Het |
| Gm21886 |
A |
T |
18: 80,132,867 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,832,129 (GRCm39) |
L1076F |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,009,485 (GRCm39) |
M1714T |
possibly 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 |
| Il1rn |
C |
A |
2: 24,239,554 (GRCm39) |
T150K |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,625,094 (GRCm39) |
I237V |
probably benign |
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 |
| Kit |
G |
A |
5: 75,806,507 (GRCm39) |
V671I |
possibly damaging |
Het |
| Klhdc8a |
A |
T |
1: 132,230,705 (GRCm39) |
N190I |
probably damaging |
Het |
| Lad1 |
C |
T |
1: 135,753,576 (GRCm39) |
T41I |
probably damaging |
Het |
| Lrrc7 |
G |
T |
3: 157,903,778 (GRCm39) |
T294K |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,037,796 (GRCm39) |
R771C |
probably benign |
Het |
| Micu3 |
A |
C |
8: 40,831,955 (GRCm39) |
N440T |
possibly damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,211 (GRCm39) |
N291D |
unknown |
Het |
| Mthfr |
A |
G |
4: 148,136,060 (GRCm39) |
M378V |
probably benign |
Het |
| Mup2 |
A |
T |
4: 60,138,454 (GRCm39) |
D79E |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,412,465 (GRCm39) |
T451A |
probably benign |
Het |
| Nlrp9c |
T |
C |
7: 26,070,860 (GRCm39) |
D907G |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,334,267 (GRCm39) |
E41G |
probably benign |
Het |
| Nup98 |
A |
T |
7: 101,784,208 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
A |
C |
5: 138,238,022 (GRCm39) |
Y194S |
probably damaging |
Het |
| Omd |
A |
T |
13: 49,745,745 (GRCm39) |
E385V |
possibly damaging |
Het |
| Or12d15 |
T |
C |
17: 37,694,190 (GRCm39) |
V244A |
probably damaging |
Het |
| Or12e9 |
G |
T |
2: 87,202,034 (GRCm39) |
V53L |
probably benign |
Het |
| Or2av9 |
A |
G |
11: 58,380,606 (GRCm39) |
I325T |
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 |
| Pcdh9 |
G |
T |
14: 94,124,547 (GRCm39) |
T541K |
probably damaging |
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 |
| Pitx3 |
T |
C |
19: 46,125,863 (GRCm39) |
D20G |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,937,236 (GRCm39) |
V1139A |
probably benign |
Het |
| Pon2 |
A |
T |
6: 5,268,995 (GRCm39) |
N226K |
probably damaging |
Het |
| Potegl |
C |
T |
2: 23,147,006 (GRCm39) |
R337C |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,241,025 (GRCm39) |
H642Q |
possibly damaging |
Het |
| Prom2 |
A |
G |
2: 127,381,731 (GRCm39) |
L195P |
probably damaging |
Het |
| Psg23 |
C |
T |
7: 18,345,908 (GRCm39) |
|
probably null |
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 |
| Rhot2 |
A |
T |
17: 26,060,583 (GRCm39) |
V233E |
probably damaging |
Het |
| Ripply2 |
T |
C |
9: 86,901,809 (GRCm39) |
S112P |
possibly 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 |
| Slco1a8 |
T |
G |
6: 141,949,234 (GRCm39) |
|
probably null |
Het |
| Sned1 |
G |
A |
1: 93,217,080 (GRCm39) |
V1322I |
probably benign |
Het |
| Sprr2f |
G |
A |
3: 92,273,251 (GRCm39) |
V17M |
unknown |
Het |
| Srd5a3 |
A |
G |
5: 76,302,490 (GRCm39) |
H285R |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,881,216 (GRCm39) |
T605A |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,223,718 (GRCm39) |
Q3054R |
probably damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,122,765 (GRCm39) |
T27A |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,719,209 (GRCm39) |
V237E |
probably benign |
Het |
| Trpv6 |
C |
T |
6: 41,602,087 (GRCm39) |
M407I |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,550,698 (GRCm39) |
D31528A |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,323,344 (GRCm39) |
D354V |
possibly damaging |
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 |
| 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 |
|
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'- GGTCCCAAATTATGTCAGCTTTCC -3'
(R):5'- CTGTCATAGCCAAACATTCCAGAG -3'
Sequencing Primer
(F):5'- AGCTTTCCCTCTTTTTCTGTAATAC -3'
(R):5'- TAGCCAAACATTCCAGAGATAAATC -3'
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| Posted On |
2019-10-07 |
Incidental Mutation