Incidental Mutation 'R6545:Inpp5f'
ID |
521108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5f
|
Ensembl Gene |
ENSMUSG00000042105 |
Gene Name |
inositol polyphosphate-5-phosphatase F |
Synonyms |
cI-27, 5830435P03Rik, SAC2 |
MMRRC Submission |
044671-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R6545 (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 128296280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 250
(A250D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
[ENSMUST00000057557]
[ENSMUST00000118605]
[ENSMUST00000119081]
[ENSMUST00000151237]
[ENSMUST00000202419]
|
AlphaFold |
Q8CDA1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043138
AA Change: A877D
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045910 Gene: ENSMUSG00000042105 AA Change: A877D
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 |
probably benign
Transcript: ENSMUST00000057557
|
SMART Domains |
Protein: ENSMUSP00000062843 Gene: ENSMUSG00000048170
Domain | Start | End | E-Value | Type |
Pfam:MCM_bind
|
37 |
166 |
1.6e-44 |
PFAM |
Pfam:Racemase_4
|
352 |
451 |
1.5e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118475
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118605
AA Change: A250D
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113700 Gene: ENSMUSG00000042105 AA Change: A250D
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 |
probably benign
Transcript: ENSMUST00000119081
|
SMART Domains |
Protein: ENSMUSP00000113961 Gene: ENSMUSG00000048170
Domain | Start | End | E-Value | Type |
Pfam:MCM_bind
|
36 |
588 |
3.6e-210 |
PFAM |
low complexity region
|
603 |
623 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127807
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151237
AA Change: A186D
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202419
|
SMART Domains |
Protein: ENSMUSP00000143952 Gene: ENSMUSG00000042105
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: ENSMUST00000140714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142075
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
95% (42/44) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago1 |
C |
T |
4: 126,348,145 (GRCm39) |
A58T |
possibly damaging |
Het |
Ago4 |
T |
A |
4: 126,405,811 (GRCm39) |
Q366L |
probably benign |
Het |
Card10 |
C |
A |
15: 78,661,010 (GRCm39) |
G950V |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,173,279 (GRCm39) |
V303D |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,672,319 (GRCm39) |
R2917H |
probably benign |
Het |
Cit |
A |
G |
5: 115,984,493 (GRCm39) |
S22G |
probably null |
Het |
Cog4 |
A |
G |
8: 111,607,577 (GRCm39) |
E666G |
probably damaging |
Het |
Crocc2 |
A |
G |
1: 93,140,659 (GRCm39) |
D1103G |
probably benign |
Het |
Cttnbp2 |
A |
T |
6: 18,405,278 (GRCm39) |
|
probably null |
Het |
Dctn3 |
T |
C |
4: 41,723,084 (GRCm39) |
E16G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,021,715 (GRCm39) |
S3536P |
probably damaging |
Het |
Eef2 |
T |
A |
10: 81,016,948 (GRCm39) |
I675N |
probably damaging |
Het |
Gga3 |
A |
G |
11: 115,477,995 (GRCm39) |
F531S |
possibly damaging |
Het |
Gm19410 |
A |
G |
8: 36,257,652 (GRCm39) |
R697G |
possibly damaging |
Het |
Gm3173 |
T |
A |
14: 15,728,395 (GRCm39) |
M18K |
possibly damaging |
Het |
Gm5800 |
A |
T |
14: 51,949,419 (GRCm39) |
S175R |
possibly damaging |
Het |
Gria2 |
T |
C |
3: 80,648,451 (GRCm39) |
K95R |
probably damaging |
Het |
Gstm6 |
A |
G |
3: 107,849,681 (GRCm39) |
I76T |
probably damaging |
Het |
Harbi1 |
T |
G |
2: 91,542,640 (GRCm39) |
Y34D |
probably damaging |
Het |
Hectd2 |
C |
A |
19: 36,564,778 (GRCm39) |
Q20K |
probably benign |
Het |
Irf9 |
T |
C |
14: 55,842,684 (GRCm39) |
F59L |
probably damaging |
Het |
Itgam |
T |
A |
7: 127,707,044 (GRCm39) |
M625K |
probably damaging |
Het |
Kcnh5 |
C |
T |
12: 75,054,432 (GRCm39) |
R504Q |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,052,793 (GRCm39) |
T1389A |
probably benign |
Het |
Lin54 |
T |
A |
5: 100,632,996 (GRCm39) |
|
probably null |
Het |
Mettl23 |
A |
G |
11: 116,740,042 (GRCm39) |
D171G |
possibly damaging |
Het |
Mgll |
A |
G |
6: 88,802,685 (GRCm39) |
N296S |
probably benign |
Het |
Mpv17 |
T |
A |
5: 31,302,041 (GRCm39) |
|
probably benign |
Het |
Myof |
A |
T |
19: 37,930,745 (GRCm39) |
M1001K |
possibly damaging |
Het |
Myom1 |
A |
T |
17: 71,389,300 (GRCm39) |
Q850L |
probably benign |
Het |
Or10ab5 |
A |
T |
7: 108,245,662 (GRCm39) |
N40K |
probably damaging |
Het |
Pias2 |
A |
G |
18: 77,217,781 (GRCm39) |
I328V |
possibly damaging |
Het |
Polh |
G |
A |
17: 46,493,685 (GRCm39) |
P311S |
possibly damaging |
Het |
Prss34 |
A |
T |
17: 25,517,809 (GRCm39) |
R61S |
probably benign |
Het |
Rassf2 |
A |
T |
2: 131,840,237 (GRCm39) |
M280K |
probably damaging |
Het |
Rpsa |
A |
G |
9: 119,959,323 (GRCm39) |
H47R |
probably benign |
Het |
Rtp3 |
A |
G |
9: 110,815,894 (GRCm39) |
V219A |
possibly damaging |
Het |
Smarcc2 |
T |
C |
10: 128,319,997 (GRCm39) |
I790T |
probably benign |
Het |
Stag3 |
A |
G |
5: 138,296,614 (GRCm39) |
T491A |
possibly damaging |
Het |
Svil |
C |
T |
18: 5,108,621 (GRCm39) |
H2007Y |
probably benign |
Het |
Togaram1 |
T |
G |
12: 65,024,981 (GRCm39) |
C750G |
possibly damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,304,806 (GRCm39) |
|
probably null |
Het |
Vmn2r4 |
A |
T |
3: 64,313,777 (GRCm39) |
D401E |
possibly damaging |
Het |
Wdr97 |
C |
T |
15: 76,247,578 (GRCm39) |
R1585C |
probably damaging |
Het |
Wsb1 |
A |
T |
11: 79,141,881 (GRCm39) |
D45E |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,319,709 (GRCm39) |
Y313N |
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 |
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 |
|
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'- CGGCAACCTACGAAAATTAGG -3'
(R):5'- CAGGCCTTTCCCAAGTTCAC -3'
Sequencing Primer
(F):5'- GGAAACTTTACAAAGCCTGAAATG -3'
(R):5'- GTTCACTTCCAGGACCAGCAG -3'
|
Posted On |
2018-06-06 |