Incidental Mutation 'R1375:Inpp5f'
| ID |
157470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5f
|
| Ensembl Gene |
ENSMUSG00000042105 |
| Gene Name |
inositol polyphosphate-5-phosphatase F |
| Synonyms |
cI-27, 5830435P03Rik, SAC2 |
| MMRRC Submission |
039439-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R1375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
128213052-128298149 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 128265753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 166
(L166*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
|
| AlphaFold |
Q8CDA1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043138
AA Change: L166*
|
| SMART Domains |
Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: L166*
| 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: ENSMUST00000098007
|
| SMART Domains |
Protein: ENSMUSP00000095616
Gene: ENSMUSG00000042105
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syja_N
|
48 |
410 |
1.2e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148815
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.8%
- 20x: 89.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,243,042 (GRCm39) |
V1268A |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,225,354 (GRCm39) |
D78E |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,513,095 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Defb15 |
T |
C |
8: 22,420,071 (GRCm39) |
N19D |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,956,269 (GRCm39) |
G2083D |
probably damaging |
Het |
| Ggn |
T |
C |
7: 28,871,366 (GRCm39) |
S249P |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,825 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,268,435 (GRCm39) |
L514Q |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,547,246 (GRCm39) |
H678N |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,679 (GRCm39) |
I846T |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,232,854 (GRCm39) |
|
probably null |
Het |
| Il17b |
T |
C |
18: 61,823,325 (GRCm39) |
V53A |
probably benign |
Het |
| Mdfic2 |
C |
T |
6: 98,215,260 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,653,568 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,543 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,177,006 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,484,039 (GRCm39) |
N11S |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,081 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,305 (GRCm39) |
L82P |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,506,241 (GRCm39) |
L12Q |
probably null |
Het |
| Or8b46 |
T |
A |
9: 38,450,830 (GRCm39) |
V213D |
possibly damaging |
Het |
| Pipox |
C |
A |
11: 77,772,036 (GRCm39) |
E363* |
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rpp30 |
T |
C |
19: 36,078,673 (GRCm39) |
|
probably null |
Het |
| Septin1 |
T |
C |
7: 126,817,333 (GRCm39) |
D25G |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,805,106 (GRCm39) |
N152D |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,626,029 (GRCm39) |
V1307A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,087,423 (GRCm39) |
N1180I |
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 |
|
|
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'- TGACGTGGGCTTTGAATCCATCATC -3'
(R):5'- GCGACCTCTGCATAACAATGGCAAC -3'
Sequencing Primer
(F):5'- GGGCTTTGAATCCATCATCGATTAG -3'
(R):5'- ACCAATCTCAGTGAGAGCTTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation