Incidental Mutation 'R9127:Ppip5k1'
ID |
693304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppip5k1
|
Ensembl Gene |
ENSMUSG00000033526 |
Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
Synonyms |
B430315C20Rik, Hisppd2a |
MMRRC Submission |
068926-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R9127 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 121158125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000155568]
|
AlphaFold |
A2ARP1 |
Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000132613
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (82/82) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,242,080 (GRCm39) |
D1314E |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,724,707 (GRCm39) |
R47W |
probably benign |
Het |
Abcc6 |
T |
C |
7: 45,629,184 (GRCm39) |
N1354S |
probably damaging |
Het |
Abracl |
T |
C |
10: 17,887,444 (GRCm39) |
Y61C |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,208,027 (GRCm39) |
T633A |
probably benign |
Het |
Agap3 |
G |
A |
5: 24,681,439 (GRCm39) |
|
probably benign |
Het |
Ago4 |
A |
T |
4: 126,400,904 (GRCm39) |
M647K |
probably damaging |
Het |
Akap7 |
G |
T |
10: 25,155,676 (GRCm39) |
S72R |
unknown |
Het |
Arhgef12 |
A |
G |
9: 42,885,870 (GRCm39) |
L1251S |
possibly damaging |
Het |
Astn2 |
A |
T |
4: 66,322,164 (GRCm39) |
V145E |
unknown |
Het |
Atxn2l |
A |
T |
7: 126,097,393 (GRCm39) |
S304R |
probably damaging |
Het |
Cd226 |
A |
T |
18: 89,287,155 (GRCm39) |
I318F |
probably damaging |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Cfap65 |
A |
T |
1: 74,958,510 (GRCm39) |
|
probably benign |
Het |
Cfap96 |
T |
G |
8: 46,415,403 (GRCm39) |
D201A |
probably benign |
Het |
Chtf8 |
A |
G |
8: 107,613,640 (GRCm39) |
V18A |
probably benign |
Het |
Cit |
G |
T |
5: 116,074,896 (GRCm39) |
E683* |
probably null |
Het |
Ckmt2 |
T |
C |
13: 92,007,337 (GRCm39) |
R286G |
probably damaging |
Het |
Clec4a2 |
T |
A |
6: 123,116,218 (GRCm39) |
W128R |
probably damaging |
Het |
Clec4n |
T |
G |
6: 123,212,447 (GRCm39) |
S88A |
probably damaging |
Het |
Cndp2 |
G |
A |
18: 84,699,121 (GRCm39) |
A48V |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,273,286 (GRCm39) |
T849A |
probably benign |
Het |
Cts3 |
A |
T |
13: 61,715,235 (GRCm39) |
Y199* |
probably null |
Het |
Dag1 |
A |
T |
9: 108,085,734 (GRCm39) |
L469* |
probably null |
Het |
Dclre1c |
T |
C |
2: 3,439,125 (GRCm39) |
V225A |
|
Het |
Dedd |
A |
G |
1: 171,166,409 (GRCm39) |
D115G |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,741,407 (GRCm39) |
V2166D |
probably benign |
Het |
Eif2ak3 |
T |
A |
6: 70,860,704 (GRCm39) |
W427R |
probably damaging |
Het |
Fbln2 |
T |
A |
6: 91,210,473 (GRCm39) |
V139D |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,223,985 (GRCm39) |
M588K |
possibly damaging |
Het |
Gm17019 |
A |
T |
5: 15,081,113 (GRCm39) |
Y109* |
probably null |
Het |
Gm32742 |
T |
A |
9: 51,056,015 (GRCm39) |
N1255Y |
probably damaging |
Het |
Gm5431 |
T |
A |
11: 48,779,600 (GRCm39) |
K441* |
probably null |
Het |
Golga2 |
A |
G |
2: 32,196,079 (GRCm39) |
D898G |
|
Het |
Gramd4 |
G |
A |
15: 85,975,525 (GRCm39) |
R39H |
probably benign |
Het |
Gucy1a2 |
A |
G |
9: 3,634,553 (GRCm39) |
N199S |
probably damaging |
Het |
Heyl |
G |
A |
4: 123,139,885 (GRCm39) |
R148H |
probably damaging |
Het |
Ifi208 |
A |
T |
1: 173,523,400 (GRCm39) |
M557L |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,958,238 (GRCm39) |
V145A |
probably damaging |
Het |
Ighv1-4 |
A |
T |
12: 114,450,879 (GRCm39) |
Y76* |
probably null |
Het |
Ikzf4 |
T |
C |
10: 128,468,487 (GRCm39) |
D664G |
unknown |
Het |
Il1a |
T |
A |
2: 129,146,715 (GRCm39) |
Y126F |
possibly damaging |
Het |
Lmf2 |
C |
A |
15: 89,239,771 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
C |
13: 13,808,827 (GRCm39) |
S166P |
probably damaging |
Het |
Mgat5 |
A |
C |
1: 127,294,197 (GRCm39) |
T180P |
probably benign |
Het |
Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
Mov10 |
G |
T |
3: 104,711,659 (GRCm39) |
Y209* |
probably null |
Het |
Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
Numa1 |
T |
A |
7: 101,641,869 (GRCm39) |
S106T |
possibly damaging |
Het |
Or1e1d-ps1 |
A |
T |
11: 73,819,167 (GRCm39) |
E39V |
probably damaging |
Het |
Or4c124 |
G |
A |
2: 89,156,474 (GRCm39) |
Q17* |
probably null |
Het |
Or5b107 |
A |
G |
19: 13,142,396 (GRCm39) |
N6S |
probably damaging |
Het |
Or7g27 |
A |
G |
9: 19,250,026 (GRCm39) |
H90R |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,582,091 (GRCm39) |
N399S |
probably damaging |
Het |
Plcl2 |
T |
A |
17: 50,918,032 (GRCm39) |
S944T |
probably benign |
Het |
Pml |
A |
T |
9: 58,127,660 (GRCm39) |
I695N |
probably benign |
Het |
Ppard |
G |
T |
17: 28,505,349 (GRCm39) |
R12L |
unknown |
Het |
Ppp1r3g |
T |
C |
13: 36,152,621 (GRCm39) |
S14P |
probably benign |
Het |
Pramel55 |
A |
G |
5: 95,951,623 (GRCm39) |
Y470C |
probably damaging |
Het |
Prrc2b |
C |
A |
2: 32,103,764 (GRCm39) |
R1081S |
probably damaging |
Het |
Rasgrp2 |
A |
T |
19: 6,454,438 (GRCm39) |
E160D |
possibly damaging |
Het |
Rb1cc1 |
G |
A |
1: 6,333,073 (GRCm39) |
V1331I |
probably damaging |
Het |
Rnd3 |
A |
T |
2: 51,022,413 (GRCm39) |
S210T |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,312,764 (GRCm39) |
T1426A |
probably benign |
Het |
Sin3b |
C |
T |
8: 73,460,034 (GRCm39) |
T207I |
possibly damaging |
Het |
Slc26a7 |
A |
T |
4: 14,593,873 (GRCm39) |
Y81N |
probably damaging |
Het |
Slc28a3 |
C |
T |
13: 58,724,581 (GRCm39) |
M224I |
probably benign |
Het |
Slc30a1 |
T |
C |
1: 191,639,342 (GRCm39) |
I75T |
probably damaging |
Het |
Slc6a21 |
T |
A |
7: 44,929,674 (GRCm39) |
|
probably benign |
Het |
Slco2a1 |
T |
A |
9: 102,945,243 (GRCm39) |
L206Q |
probably damaging |
Het |
Spata31d1e |
A |
G |
13: 59,890,828 (GRCm39) |
S331P |
probably benign |
Het |
Sptbn1 |
A |
G |
11: 30,104,356 (GRCm39) |
V116A |
probably damaging |
Het |
Syngap1 |
G |
A |
17: 27,181,095 (GRCm39) |
D1008N |
probably damaging |
Het |
Syt11 |
T |
C |
3: 88,669,643 (GRCm39) |
D83G |
probably benign |
Het |
Syt14 |
G |
A |
1: 192,584,131 (GRCm39) |
T428I |
probably damaging |
Het |
Taf15 |
T |
A |
11: 83,395,085 (GRCm39) |
Y338* |
probably null |
Het |
Tfap4 |
A |
T |
16: 4,365,183 (GRCm39) |
M253K |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,713,680 (GRCm39) |
S703P |
possibly damaging |
Het |
Trrap |
G |
A |
5: 144,767,830 (GRCm39) |
D2577N |
probably benign |
Het |
Uqcc6 |
A |
T |
10: 82,458,588 (GRCm39) |
M21K |
probably benign |
Het |
Wdr20 |
C |
T |
12: 110,759,597 (GRCm39) |
S161L |
possibly damaging |
Het |
Zfp503 |
C |
A |
14: 22,037,418 (GRCm39) |
V62L |
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 |
R6276:Ppip5k1
|
UTSW |
2 |
121,153,684 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
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'- GTACAAACTGATGCAGCCAGG -3'
(R):5'- TTGGGTGTCCTGAATGCAGC -3'
Sequencing Primer
(F):5'- AGTGGAGGAGTCCTGGCTC -3'
(R):5'- CCTGAATGCAGCTTTGTGC -3'
|
Posted On |
2022-01-20 |