Incidental Mutation 'R6276:Ppip5k1'
| ID |
507621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
044446-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R6276 (G1)
|
| Quality Score |
124.008 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 121153684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000155568]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052029
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.8e-110 |
PFAM |
|
low complexity region
|
1163 |
1181 |
N/A |
INTRINSIC |
|
coiled coil region
|
1402 |
1430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110625
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
|
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
|
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110626
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
1.1e-135 |
PFAM |
|
low complexity region
|
1163 |
1181 |
N/A |
INTRINSIC |
|
coiled coil region
|
1402 |
1430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110627
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
|
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
|
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110628
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
886 |
3.9e-101 |
PFAM |
|
low complexity region
|
1143 |
1161 |
N/A |
INTRINSIC |
|
coiled coil region
|
1382 |
1410 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127255
|
| SMART Domains |
Protein: ENSMUSP00000118597
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
54 |
6.7e-9 |
PFAM |
|
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132114
|
| SMART Domains |
Protein: ENSMUSP00000117948
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
117 |
1.4e-30 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132613
AA Change: C161S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155568
|
| SMART Domains |
Protein: ENSMUSP00000116335
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
107 |
8.6e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,874 (GRCm39) |
D364E |
probably benign |
Het |
| Adra2c |
C |
T |
5: 35,437,423 (GRCm39) |
T65I |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,925,229 (GRCm39) |
|
probably null |
Het |
| Ager |
T |
C |
17: 34,817,728 (GRCm39) |
V126A |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,736 (GRCm39) |
I288M |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,862,068 (GRCm39) |
S541C |
probably benign |
Het |
| Asb4 |
A |
G |
6: 5,431,043 (GRCm39) |
Y426C |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,878,406 (GRCm39) |
T82I |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,778,567 (GRCm39) |
R764S |
probably damaging |
Het |
| Ccdc146 |
A |
C |
5: 21,506,338 (GRCm39) |
I701S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,056 (GRCm39) |
K145E |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,345,903 (GRCm39) |
I172F |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,718,647 (GRCm39) |
E199G |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,478,921 (GRCm39) |
T216S |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,858 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,214,636 (GRCm39) |
N649S |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,579,458 (GRCm39) |
T335I |
possibly damaging |
Het |
| Epb41l2 |
G |
T |
10: 25,378,022 (GRCm39) |
G695C |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
| F2rl1 |
G |
T |
13: 95,650,446 (GRCm39) |
Y145* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,810,785 (GRCm39) |
Y2368F |
possibly damaging |
Het |
| Galnt7 |
C |
T |
8: 57,989,612 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,941,802 (GRCm39) |
Y627* |
probably null |
Het |
| Gm6811 |
T |
A |
17: 21,314,245 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6811 |
T |
G |
17: 21,314,952 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M1 |
G |
A |
17: 36,982,602 (GRCm39) |
T86M |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,720,347 (GRCm39) |
D170G |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,614,432 (GRCm39) |
A1325T |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,707,826 (GRCm39) |
Y89* |
probably null |
Het |
| Itga1 |
T |
C |
13: 115,117,388 (GRCm39) |
E871G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,429,421 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,979 (GRCm39) |
A756E |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,312,728 (GRCm39) |
C105* |
probably null |
Het |
| Lama1 |
G |
A |
17: 68,091,083 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
G |
18: 12,640,006 (GRCm39) |
N67S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,956,587 (GRCm39) |
|
probably null |
Het |
| Lypd9 |
T |
A |
11: 58,337,192 (GRCm39) |
I94L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,438,578 (GRCm39) |
V34A |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,549 (GRCm39) |
L487P |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,959,508 (GRCm39) |
S1430T |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,373,723 (GRCm39) |
T495I |
probably benign |
Het |
| Or1e31 |
A |
T |
11: 73,690,229 (GRCm39) |
M118K |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,966,457 (GRCm39) |
A980T |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,666 (GRCm39) |
I620N |
probably damaging |
Het |
| Pcdha6 |
A |
G |
18: 37,102,820 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
A |
18: 37,554,813 (GRCm39) |
V48M |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,697 (GRCm39) |
E139G |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phactr3 |
G |
A |
2: 177,920,812 (GRCm39) |
E222K |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,206,076 (GRCm39) |
H278R |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,886 (GRCm39) |
H91Q |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,264,503 (GRCm39) |
N78S |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,078 (GRCm39) |
I1614N |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,448,766 (GRCm39) |
Y593C |
probably damaging |
Het |
| Tcaf2 |
G |
C |
6: 42,606,687 (GRCm39) |
F422L |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,067,217 (GRCm39) |
F2216I |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,441 (GRCm39) |
E846G |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,580,313 (GRCm39) |
I753T |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,267,309 (GRCm39) |
T70M |
possibly damaging |
Het |
| Vmn1r124 |
A |
C |
7: 20,994,104 (GRCm39) |
F147V |
probably benign |
Het |
| Vmn1r220 |
T |
C |
13: 23,368,465 (GRCm39) |
D77G |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,493,730 (GRCm39) |
H72R |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,318 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,671,732 (GRCm39) |
A490S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,831,482 (GRCm39) |
A915T |
possibly damaging |
Het |
| Zmiz2 |
G |
T |
11: 6,345,604 (GRCm39) |
|
probably null |
Het |
| Zscan2 |
A |
G |
7: 80,525,557 (GRCm39) |
N426S |
probably benign |
Het |
|
| Other mutations in Ppip5k1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Ppip5k1
|
APN |
2 |
121,177,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01154:Ppip5k1
|
APN |
2 |
121,173,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01341:Ppip5k1
|
APN |
2 |
121,173,691 (GRCm39) |
nonsense |
probably null |
|
|
IGL01704:Ppip5k1
|
APN |
2 |
121,142,555 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01949:Ppip5k1
|
APN |
2 |
121,168,341 (GRCm39) |
missense |
probably benign |
|
|
IGL02101:Ppip5k1
|
APN |
2 |
121,162,089 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02499:Ppip5k1
|
APN |
2 |
121,162,034 (GRCm39) |
splice site |
probably null |
|
|
IGL02701:Ppip5k1
|
APN |
2 |
121,147,130 (GRCm39) |
splice site |
probably null |
|
|
IGL03188:Ppip5k1
|
APN |
2 |
121,157,327 (GRCm39) |
unclassified |
probably benign |
|
|
boca
|
UTSW |
2 |
121,142,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
lapidus
|
UTSW |
2 |
121,167,944 (GRCm39) |
missense |
probably benign |
0.29 |
|
Roca
|
UTSW |
2 |
121,167,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0363:Ppip5k1
|
UTSW |
2 |
121,177,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1315:Ppip5k1
|
UTSW |
2 |
121,142,486 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1664:Ppip5k1
|
UTSW |
2 |
121,167,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1753:Ppip5k1
|
UTSW |
2 |
121,173,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Ppip5k1
|
UTSW |
2 |
121,181,067 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1763:Ppip5k1
|
UTSW |
2 |
121,179,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Ppip5k1
|
UTSW |
2 |
121,168,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2037:Ppip5k1
|
UTSW |
2 |
121,173,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Ppip5k1
|
UTSW |
2 |
121,173,352 (GRCm39) |
unclassified |
probably benign |
|
|
R2103:Ppip5k1
|
UTSW |
2 |
121,152,134 (GRCm39) |
splice site |
probably null |
|
|
R3414:Ppip5k1
|
UTSW |
2 |
121,158,142 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4022:Ppip5k1
|
UTSW |
2 |
121,168,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Ppip5k1
|
UTSW |
2 |
121,174,044 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4783:Ppip5k1
|
UTSW |
2 |
121,171,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4843:Ppip5k1
|
UTSW |
2 |
121,157,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Ppip5k1
|
UTSW |
2 |
121,142,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Ppip5k1
|
UTSW |
2 |
121,142,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5493:Ppip5k1
|
UTSW |
2 |
121,167,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Ppip5k1
|
UTSW |
2 |
121,147,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5835:Ppip5k1
|
UTSW |
2 |
121,168,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5987:Ppip5k1
|
UTSW |
2 |
121,180,972 (GRCm39) |
nonsense |
probably null |
|
|
R6076:Ppip5k1
|
UTSW |
2 |
121,167,591 (GRCm39) |
missense |
probably null |
1.00 |
|
R6088:Ppip5k1
|
UTSW |
2 |
121,167,944 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6555:Ppip5k1
|
UTSW |
2 |
121,168,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6878:Ppip5k1
|
UTSW |
2 |
121,142,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7075:Ppip5k1
|
UTSW |
2 |
121,152,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Ppip5k1
|
UTSW |
2 |
121,178,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7332:Ppip5k1
|
UTSW |
2 |
121,142,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7359:Ppip5k1
|
UTSW |
2 |
121,171,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7462:Ppip5k1
|
UTSW |
2 |
121,167,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7568:Ppip5k1
|
UTSW |
2 |
121,168,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Ppip5k1
|
UTSW |
2 |
121,179,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Ppip5k1
|
UTSW |
2 |
121,168,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Ppip5k1
|
UTSW |
2 |
121,173,276 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7877:Ppip5k1
|
UTSW |
2 |
121,147,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7896:Ppip5k1
|
UTSW |
2 |
121,177,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Ppip5k1
|
UTSW |
2 |
121,142,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7911:Ppip5k1
|
UTSW |
2 |
121,173,139 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8167:Ppip5k1
|
UTSW |
2 |
121,173,282 (GRCm39) |
nonsense |
probably null |
|
|
R8179:Ppip5k1
|
UTSW |
2 |
121,172,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8766:Ppip5k1
|
UTSW |
2 |
121,166,919 (GRCm39) |
nonsense |
probably null |
|
|
R8954:Ppip5k1
|
UTSW |
2 |
121,153,701 (GRCm39) |
unclassified |
probably benign |
|
|
R8981:Ppip5k1
|
UTSW |
2 |
121,158,121 (GRCm39) |
unclassified |
probably benign |
|
|
R9127:Ppip5k1
|
UTSW |
2 |
121,158,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9165:Ppip5k1
|
UTSW |
2 |
121,162,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Ppip5k1
|
UTSW |
2 |
121,164,932 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9338:Ppip5k1
|
UTSW |
2 |
121,153,827 (GRCm39) |
missense |
|
|
|
R9662:Ppip5k1
|
UTSW |
2 |
121,174,054 (GRCm39) |
missense |
probably benign |
0.15 |
|
X0020:Ppip5k1
|
UTSW |
2 |
121,172,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ppip5k1
|
UTSW |
2 |
121,168,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTACAACTACCAGGCAGC -3'
(R):5'- ACGCTTGTGTCAGTCAGTG -3'
Sequencing Primer
(F):5'- GCAGCCTGGCCCCAATC -3'
(R):5'- GTGTCAGTCAGTGCCCCTCAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation