Incidental Mutation 'R7915:Inpp5f'
| ID |
648018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5f
|
| Ensembl Gene |
ENSMUSG00000042105 |
| Gene Name |
inositol polyphosphate-5-phosphatase F |
| Synonyms |
cI-27, 5830435P03Rik, SAC2 |
| MMRRC Submission |
045963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R7915 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128269433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 261
(T261K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
|
| AlphaFold |
Q8CDA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043138
AA Change: T261K
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: T261K
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (66/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
G |
17: 24,484,507 (GRCm39) |
H1585P |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,167,414 (GRCm39) |
T1063S |
probably benign |
Het |
| Actc1 |
T |
A |
2: 113,880,967 (GRCm39) |
K86M |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,190 (GRCm39) |
N51S |
probably benign |
Het |
| Arhgap33 |
G |
A |
7: 30,222,648 (GRCm39) |
P1095S |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,722,447 (GRCm39) |
T357A |
probably benign |
Het |
| C130032M10Rik |
A |
G |
9: 114,345,123 (GRCm39) |
R120G |
unknown |
Het |
| Cadps |
A |
G |
14: 12,705,544 (GRCm38) |
F284L |
possibly damaging |
Het |
| Ccdc83 |
G |
A |
7: 89,893,290 (GRCm39) |
Q156* |
probably null |
Het |
| Cdh20 |
T |
A |
1: 104,861,898 (GRCm39) |
M26K |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,143,668 (GRCm39) |
L2979P |
probably damaging |
Het |
| Cdhr17 |
A |
G |
5: 17,032,012 (GRCm39) |
N556D |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,141,363 (GRCm39) |
L1172P |
probably damaging |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,628 (GRCm39) |
|
probably null |
Het |
| Cyp2j9 |
T |
A |
4: 96,479,621 (GRCm39) |
|
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,677,266 (GRCm39) |
|
probably null |
Het |
| Dio3 |
A |
G |
12: 110,246,473 (GRCm39) |
M270V |
|
Het |
| Dll1 |
C |
A |
17: 15,588,690 (GRCm39) |
D662Y |
probably damaging |
Het |
| Drd1 |
G |
T |
13: 54,207,834 (GRCm39) |
P127T |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,544,206 (GRCm39) |
S652P |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,794,280 (GRCm39) |
M708I |
probably benign |
Het |
| Fam89a |
T |
C |
8: 125,467,895 (GRCm39) |
E139G |
probably damaging |
Het |
| Gpr141 |
T |
C |
13: 19,936,729 (GRCm39) |
I15M |
probably benign |
Het |
| Hcn4 |
G |
A |
9: 58,731,218 (GRCm39) |
E142K |
unknown |
Het |
| Hivep3 |
T |
A |
4: 119,954,962 (GRCm39) |
S1093T |
possibly damaging |
Het |
| Ints3 |
A |
T |
3: 90,340,132 (GRCm39) |
D42E |
probably benign |
Het |
| Krt90 |
A |
T |
15: 101,466,838 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrig1 |
C |
A |
6: 94,607,082 (GRCm39) |
|
probably null |
Het |
| Mapk14 |
A |
G |
17: 28,947,928 (GRCm39) |
T221A |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,373,807 (GRCm39) |
T202S |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,838,264 (GRCm39) |
F507I |
probably benign |
Het |
| Or7a35 |
A |
G |
10: 78,853,264 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,492,969 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,110 (GRCm39) |
*314L |
probably null |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,811,630 (GRCm39) |
Y3724* |
probably null |
Het |
| Plxnd1 |
T |
C |
6: 115,943,879 (GRCm39) |
D1140G |
probably benign |
Het |
| Pramel22 |
T |
C |
4: 143,382,315 (GRCm39) |
K127R |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,112 (GRCm39) |
S250P |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,162,277 (GRCm39) |
M777K |
possibly damaging |
Het |
| Prrc2c |
A |
C |
1: 162,519,977 (GRCm39) |
S2125A |
probably benign |
Het |
| Ptpn12 |
A |
G |
5: 21,214,449 (GRCm39) |
I229T |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,790,073 (GRCm39) |
V93A |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,865 (GRCm39) |
C376R |
probably benign |
Het |
| Sis |
A |
C |
3: 72,828,471 (GRCm39) |
H1201Q |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Slc3a2 |
G |
A |
19: 8,685,182 (GRCm39) |
R535W |
probably damaging |
Het |
| Slc5a2 |
T |
A |
7: 127,864,966 (GRCm39) |
L33Q |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,494,431 (GRCm39) |
R927L |
probably damaging |
Het |
| Spaca7b |
T |
C |
8: 11,728,645 (GRCm39) |
T9A |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,190,440 (GRCm39) |
D565G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,173,848 (GRCm39) |
K745R |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,033,113 (GRCm39) |
I71V |
probably damaging |
Het |
| Tgm1 |
T |
C |
14: 55,937,883 (GRCm39) |
D742G |
probably damaging |
Het |
| Tmem128 |
T |
A |
5: 38,423,875 (GRCm39) |
W30R |
probably benign |
Het |
| Tox |
T |
A |
4: 6,822,949 (GRCm39) |
M123L |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,569,413 (GRCm39) |
S547G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,567,539 (GRCm39) |
K27785* |
probably null |
Het |
| Tut7 |
T |
C |
13: 59,932,628 (GRCm39) |
I1345V |
probably benign |
Het |
| Usp38 |
A |
C |
8: 81,727,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,340,956 (GRCm39) |
H2840Q |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,975,731 (GRCm39) |
I229V |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,380 (GRCm39) |
Y81N |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,287,493 (GRCm39) |
D442V |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,813,389 (GRCm39) |
I3296V |
|
Het |
| Wwtr1 |
A |
G |
3: 57,483,020 (GRCm39) |
|
probably null |
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 |
|
|
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'- AGTAAGTAGCAGTGCTGTGC -3'
(R):5'- CTCCACTGCAGAAATCCGTCTC -3'
Sequencing Primer
(F):5'- TAGCAGTGCTGTGCAGAATATAAAC -3'
(R):5'- GCTAACAGTGCTTTCAAGGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation