Incidental Mutation 'R7259:Inpp5f'
ID |
564484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5f
|
Ensembl Gene |
ENSMUSG00000042105 |
Gene Name |
inositol polyphosphate-5-phosphatase F |
Synonyms |
cI-27, 5830435P03Rik, SAC2 |
MMRRC Submission |
045351-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R7259 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128271681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 359
(C359S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
|
AlphaFold |
Q8CDA1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043138
AA Change: C359S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000045910 Gene: ENSMUSG00000042105 AA Change: C359S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,620,288 (GRCm39) |
Y258C |
probably benign |
Het |
Aebp2 |
A |
G |
6: 140,579,494 (GRCm39) |
S244G |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,230 (GRCm39) |
Y495N |
probably damaging |
Het |
Arhgap33 |
A |
G |
7: 30,231,625 (GRCm39) |
V120A |
probably damaging |
Het |
Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,604,132 (GRCm39) |
Y434H |
probably benign |
Het |
Atrnl1 |
C |
T |
19: 57,924,038 (GRCm39) |
R1268* |
probably null |
Het |
AW554918 |
A |
G |
18: 25,422,906 (GRCm39) |
|
probably null |
Het |
Canx |
A |
G |
11: 50,192,643 (GRCm39) |
W324R |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,224,424 (GRCm39) |
E202G |
unknown |
Het |
Crh |
C |
A |
3: 19,748,418 (GRCm39) |
A75S |
possibly damaging |
Het |
Ctnnal1 |
T |
A |
4: 56,817,299 (GRCm39) |
|
probably null |
Het |
Dmrta2 |
T |
A |
4: 109,839,104 (GRCm39) |
S284T |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,384,477 (GRCm39) |
V680A |
probably damaging |
Het |
Duox2 |
G |
A |
2: 122,125,657 (GRCm39) |
R317C |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,048,138 (GRCm39) |
L108P |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,825,792 (GRCm39) |
S540P |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,812,474 (GRCm39) |
A2931V |
possibly damaging |
Het |
Gipc2 |
A |
T |
3: 151,833,693 (GRCm39) |
I196K |
probably damaging |
Het |
Gli2 |
A |
G |
1: 118,764,264 (GRCm39) |
S1296P |
probably benign |
Het |
Gm21103 |
T |
A |
14: 17,482,882 (GRCm39) |
Q173L |
probably damaging |
Het |
Gpatch1 |
A |
T |
7: 34,986,546 (GRCm39) |
|
probably null |
Het |
Grm8 |
G |
A |
6: 27,760,175 (GRCm39) |
T385I |
probably null |
Het |
Gtf2f1 |
C |
A |
17: 57,311,562 (GRCm39) |
D283Y |
probably damaging |
Het |
Hcar1 |
T |
A |
5: 124,017,275 (GRCm39) |
T139S |
possibly damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,029,611 (GRCm39) |
T157S |
possibly damaging |
Het |
Htra2 |
T |
G |
6: 83,028,520 (GRCm39) |
Q436P |
possibly damaging |
Het |
Igkv1-133 |
A |
G |
6: 67,702,522 (GRCm39) |
D80G |
probably benign |
Het |
Il21 |
C |
A |
3: 37,281,803 (GRCm39) |
|
probably null |
Het |
Itgb6 |
A |
T |
2: 60,480,355 (GRCm39) |
I327N |
probably damaging |
Het |
Itgbl1 |
A |
T |
14: 124,081,316 (GRCm39) |
T232S |
probably damaging |
Het |
Kif1a |
T |
A |
1: 93,001,532 (GRCm39) |
K266* |
probably null |
Het |
Mcm10 |
C |
A |
2: 5,011,328 (GRCm39) |
E214D |
probably benign |
Het |
Mefv |
T |
A |
16: 3,530,917 (GRCm39) |
I522F |
probably damaging |
Het |
Naaladl2 |
T |
A |
3: 24,112,340 (GRCm39) |
I581F |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,440,863 (GRCm39) |
Y306N |
probably damaging |
Het |
Opn1sw |
T |
A |
6: 29,378,911 (GRCm39) |
H247L |
probably benign |
Het |
Or4c119 |
A |
C |
2: 88,986,854 (GRCm39) |
F222V |
probably benign |
Het |
Or51v15-ps1 |
A |
T |
7: 103,278,966 (GRCm39) |
M67K |
probably damaging |
Het |
Or5k1b |
T |
C |
16: 58,580,868 (GRCm39) |
T224A |
possibly damaging |
Het |
Or6c68 |
T |
A |
10: 129,157,663 (GRCm39) |
M57K |
probably benign |
Het |
Pbxip1 |
C |
A |
3: 89,352,940 (GRCm39) |
F195L |
probably benign |
Het |
Pcdh12 |
A |
T |
18: 38,414,677 (GRCm39) |
F816Y |
probably benign |
Het |
Pi4k2b |
C |
A |
5: 52,910,587 (GRCm39) |
N290K |
probably damaging |
Het |
Pias2 |
T |
C |
18: 77,240,416 (GRCm39) |
S598P |
possibly damaging |
Het |
Ppfia4 |
A |
G |
1: 134,240,838 (GRCm39) |
V835A |
probably damaging |
Het |
Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Scg2 |
T |
C |
1: 79,414,702 (GRCm39) |
Y7C |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,331,604 (GRCm39) |
V137A |
probably benign |
Het |
Setdb1 |
G |
A |
3: 95,247,224 (GRCm39) |
T525I |
probably benign |
Het |
Sgcg |
A |
T |
14: 61,462,666 (GRCm39) |
I227N |
probably benign |
Het |
Slc35e4 |
A |
T |
11: 3,862,530 (GRCm39) |
|
probably null |
Het |
Smarca2 |
C |
T |
19: 26,631,864 (GRCm39) |
Q560* |
probably null |
Het |
Stk10 |
A |
G |
11: 32,548,497 (GRCm39) |
N355S |
probably benign |
Het |
Supt6 |
A |
T |
11: 78,098,442 (GRCm39) |
D1716E |
probably damaging |
Het |
Taok3 |
C |
T |
5: 117,390,608 (GRCm39) |
A523V |
probably benign |
Het |
Tekt3 |
A |
G |
11: 62,974,592 (GRCm39) |
T304A |
possibly damaging |
Het |
Ttc6 |
G |
T |
12: 57,622,970 (GRCm39) |
R123L |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,296,713 (GRCm39) |
|
probably null |
Het |
Ulk2 |
A |
G |
11: 61,672,909 (GRCm39) |
L895P |
probably damaging |
Het |
Unc13c |
A |
T |
9: 73,424,645 (GRCm39) |
N1990K |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wipf1 |
A |
G |
2: 73,265,425 (GRCm39) |
S393P |
probably damaging |
Het |
Yju2b |
T |
C |
8: 84,986,946 (GRCm39) |
S184G |
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 |
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'- GGAAATCAGTGAGAGATAGGGTTTT -3'
(R):5'- TAAAGCAGCTGATTCGAGAGTATT -3'
Sequencing Primer
(F):5'- GAACACTGACTGCTCTTTCAGAGG -3'
(R):5'- CAGCTGATTCGAGAGTATTCTTAGC -3'
|
Posted On |
2019-06-26 |