Incidental Mutation 'R0346:Inpp5f'
| ID |
34274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5f
|
| Ensembl Gene |
ENSMUSG00000042105 |
| Gene Name |
inositol polyphosphate-5-phosphatase F |
| Synonyms |
cI-27, 5830435P03Rik, SAC2 |
| MMRRC Submission |
038553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R0346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128292392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 16
(L16Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
[ENSMUST00000118605]
[ENSMUST00000151237]
[ENSMUST00000202419]
|
| AlphaFold |
Q8CDA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043138
AA Change: L643Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: L643Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118475
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118605
AA Change: L16Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113700
Gene: ENSMUSG00000042105
AA Change: L16Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hSac2
|
1 |
73 |
8.9e-21 |
PFAM |
|
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151237
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202419
AA Change: C104S
|
| SMART Domains |
Protein: ENSMUSP00000143952
Gene: ENSMUSG00000042105
AA Change: C104S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:VMA21
|
30 |
84 |
9.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202892
|
| Meta Mutation Damage Score |
0.7572 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (79/79) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,516,278 (GRCm39) |
I4406L |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
| Add3 |
C |
T |
19: 53,205,387 (GRCm39) |
R46* |
probably null |
Het |
| Alas1 |
A |
T |
9: 106,120,550 (GRCm39) |
S82T |
possibly damaging |
Het |
| Alkbh5 |
C |
G |
11: 60,429,567 (GRCm39) |
R107G |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,582,479 (GRCm39) |
R365* |
probably null |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,034,718 (GRCm39) |
D168G |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Caln1 |
C |
A |
5: 130,851,762 (GRCm39) |
H184N |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,759,315 (GRCm39) |
V372A |
probably damaging |
Het |
| Ccng2 |
T |
G |
5: 93,418,753 (GRCm39) |
I126S |
probably damaging |
Het |
| Cep85 |
A |
T |
4: 133,859,733 (GRCm39) |
N643K |
probably damaging |
Het |
| Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
| Cntn1 |
G |
T |
15: 92,129,968 (GRCm39) |
|
probably benign |
Het |
| Cttn |
A |
T |
7: 144,006,276 (GRCm39) |
|
probably benign |
Het |
| Dedd2 |
T |
C |
7: 24,910,694 (GRCm39) |
S161G |
possibly damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,153,132 (GRCm39) |
D263G |
probably damaging |
Het |
| Dppa4 |
T |
A |
16: 48,109,687 (GRCm39) |
|
probably benign |
Het |
| Ear2 |
A |
G |
14: 44,340,363 (GRCm39) |
E7G |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,345,452 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
T |
2: 20,764,463 (GRCm39) |
|
probably null |
Het |
| Fbxo15 |
T |
A |
18: 84,978,346 (GRCm39) |
|
probably null |
Het |
| Gm9970 |
A |
G |
5: 31,398,182 (GRCm39) |
|
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,246,855 (GRCm39) |
S17P |
probably benign |
Het |
| Hgd |
C |
T |
16: 37,409,136 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,386,370 (GRCm39) |
C364R |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,183 (GRCm39) |
D404G |
probably damaging |
Het |
| Islr2 |
G |
A |
9: 58,105,626 (GRCm39) |
R545* |
probably null |
Het |
| Itgav |
G |
T |
2: 83,622,953 (GRCm39) |
C675F |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,967,695 (GRCm39) |
I403L |
possibly damaging |
Het |
| Kif14 |
T |
A |
1: 136,395,898 (GRCm39) |
I68N |
probably damaging |
Het |
| Kif26a |
G |
T |
12: 112,145,782 (GRCm39) |
K1764N |
probably null |
Het |
| Lrrd1 |
C |
A |
5: 3,900,215 (GRCm39) |
F173L |
probably benign |
Het |
| Mroh4 |
G |
C |
15: 74,486,141 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,248,864 (GRCm39) |
V723A |
probably benign |
Het |
| Mybph |
T |
G |
1: 134,125,492 (GRCm39) |
I279S |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,151,152 (GRCm39) |
I1936L |
probably benign |
Het |
| Myo1h |
A |
T |
5: 114,493,270 (GRCm39) |
T704S |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,254,333 (GRCm39) |
T2377K |
probably benign |
Het |
| Nipbl |
T |
G |
15: 8,390,440 (GRCm39) |
Q276H |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,758,440 (GRCm39) |
L559P |
probably damaging |
Het |
| Nup210l |
T |
A |
3: 90,096,745 (GRCm39) |
V1318E |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,283 (GRCm39) |
Y94H |
probably damaging |
Het |
| Or4z4 |
A |
T |
19: 12,076,803 (GRCm39) |
S67T |
probably damaging |
Het |
| Or6c8b |
C |
A |
10: 128,882,342 (GRCm39) |
V197F |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,707 (GRCm39) |
S170P |
probably benign |
Het |
| P2ry13 |
T |
C |
3: 59,116,987 (GRCm39) |
T264A |
possibly damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,198,710 (GRCm39) |
L966P |
probably benign |
Het |
| Prss35 |
A |
G |
9: 86,637,404 (GRCm39) |
K58R |
probably benign |
Het |
| Ptafr |
T |
A |
4: 132,307,390 (GRCm39) |
L260* |
probably null |
Het |
| Pum1 |
A |
T |
4: 130,507,116 (GRCm39) |
T1157S |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,445,991 (GRCm39) |
Y275C |
probably damaging |
Het |
| Rpl6 |
A |
T |
5: 121,346,554 (GRCm39) |
K218N |
possibly damaging |
Het |
| Rps6 |
T |
C |
4: 86,774,218 (GRCm39) |
T128A |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,767,013 (GRCm39) |
|
probably benign |
Het |
| Scel |
A |
T |
14: 103,767,420 (GRCm39) |
Q26H |
probably damaging |
Het |
| Sfxn4 |
A |
T |
19: 60,847,111 (GRCm39) |
D57E |
probably benign |
Het |
| Slc35d1 |
A |
C |
4: 103,048,044 (GRCm39) |
L240R |
probably damaging |
Het |
| Smcr8 |
A |
G |
11: 60,670,576 (GRCm39) |
I575V |
probably benign |
Het |
| Spata31e4 |
T |
C |
13: 50,857,346 (GRCm39) |
Y995H |
probably benign |
Het |
| Syk |
G |
A |
13: 52,794,695 (GRCm39) |
M476I |
probably damaging |
Het |
| Tbcel |
A |
T |
9: 42,348,539 (GRCm39) |
|
probably benign |
Het |
| Tob2 |
C |
A |
15: 81,742,424 (GRCm39) |
G65W |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,731,520 (GRCm39) |
N464D |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,332,776 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
A |
5: 114,768,590 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
A |
1: 37,879,600 (GRCm39) |
T64S |
possibly damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,756 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
C |
A |
7: 11,403,621 (GRCm39) |
V276L |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,655,333 (GRCm39) |
K1898N |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,645 (GRCm39) |
M823V |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,484 (GRCm39) |
|
probably benign |
Het |
| Zfp763 |
A |
T |
17: 33,238,721 (GRCm39) |
H141Q |
probably benign |
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 |
|
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 |
|
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'- TCATGTCTGGAACAGACCTCCCTTC -3'
(R):5'- TGATTAAACAGAGTGCGTGATGCCC -3'
Sequencing Primer
(F):5'- TCCCCCCAAAATGGATGTAGATTG -3'
(R):5'- GCCCAGATTGTGATGAATTCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation