Incidental Mutation 'R9338:Ppip5k1'
| ID |
707287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R9338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121153827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 113
(R113Q)
|
| 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 |
|
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adam30 |
G |
A |
3: 98,070,129 (GRCm39) |
G654D |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,706 (GRCm39) |
V343A |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,266,204 (GRCm39) |
T358A |
unknown |
Het |
| Cox6a2 |
T |
C |
7: 127,804,914 (GRCm39) |
Y94C |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,386,703 (GRCm39) |
I1521F |
probably damaging |
Het |
| Dclk3 |
C |
A |
9: 111,268,373 (GRCm39) |
A14E |
unknown |
Het |
| Dlgap2 |
T |
C |
8: 14,229,683 (GRCm39) |
|
probably null |
Het |
| Dop1b |
C |
A |
16: 93,600,448 (GRCm39) |
Q2042K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,525,427 (GRCm39) |
S61G |
probably null |
Het |
| Ext2 |
T |
A |
2: 93,526,603 (GRCm39) |
N678Y |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,863,561 (GRCm39) |
C28* |
probably null |
Het |
| Gon4l |
C |
A |
3: 88,809,019 (GRCm39) |
D1754E |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,004,693 (GRCm39) |
C430* |
probably null |
Het |
| Htr7 |
C |
T |
19: 35,941,780 (GRCm39) |
|
probably null |
Het |
| Idh3b |
A |
T |
2: 130,122,392 (GRCm39) |
M331K |
probably damaging |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,118 (GRCm39) |
F56I |
probably benign |
Het |
| Inpp5k |
C |
T |
11: 75,536,411 (GRCm39) |
H330Y |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,744,058 (GRCm39) |
Y1385H |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,074,561 (GRCm39) |
L543P |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,666,536 (GRCm39) |
H158L |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,951,249 (GRCm39) |
T511S |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,245 (GRCm39) |
E178G |
possibly damaging |
Het |
| Msh4 |
T |
C |
3: 153,573,444 (GRCm39) |
I737V |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,762,238 (GRCm39) |
L1186P |
|
Het |
| Nckap1l |
A |
G |
15: 103,379,991 (GRCm39) |
T346A |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Npy5r |
T |
C |
8: 67,134,658 (GRCm39) |
N45S |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,610 (GRCm39) |
N81S |
probably benign |
Het |
| Pde6a |
G |
A |
18: 61,354,109 (GRCm39) |
A145T |
probably damaging |
Het |
| Pfkp |
A |
C |
13: 6,634,724 (GRCm39) |
S678A |
probably damaging |
Het |
| Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,227 (GRCm39) |
L942F |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,019,914 (GRCm39) |
T179S |
probably benign |
Het |
| Popdc2 |
G |
A |
16: 38,194,509 (GRCm39) |
C310Y |
probably benign |
Het |
| Prmt7 |
C |
T |
8: 106,961,665 (GRCm39) |
R193C |
unknown |
Het |
| Prph |
G |
C |
15: 98,955,359 (GRCm39) |
R442P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,098,779 (GRCm39) |
Y697C |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,069,143 (GRCm39) |
R962S |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,529,300 (GRCm39) |
S654P |
unknown |
Het |
| Reln |
A |
G |
5: 22,202,937 (GRCm39) |
F1288L |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,145,568 (GRCm39) |
I553N |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,110,801 (GRCm39) |
|
probably null |
Het |
| Slamf6 |
T |
A |
1: 171,747,157 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
10: 121,689,458 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,954,555 (GRCm39) |
P544S |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,427,377 (GRCm39) |
V195A |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,942,399 (GRCm39) |
M59V |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,727,019 (GRCm39) |
S1184P |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,925 (GRCm39) |
S549G |
probably benign |
Het |
| Unc5d |
T |
A |
8: 29,709,471 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,308,489 (GRCm39) |
|
probably null |
Het |
| Usp45 |
T |
C |
4: 21,784,755 (GRCm39) |
V147A |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,994 (GRCm39) |
N773K |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,858,977 (GRCm39) |
N2809I |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,032,078 (GRCm39) |
S984R |
possibly damaging |
Het |
| Yeats2 |
T |
A |
16: 20,041,533 (GRCm39) |
L1141Q |
probably damaging |
Het |
| Zfp58 |
T |
A |
13: 67,639,394 (GRCm39) |
T366S |
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 |
|
|
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 |
|
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'- GCAAAGCAATCAGTCCCAGG -3'
(R):5'- CTCTTCTTCCGAGTGAGGGATG -3'
Sequencing Primer
(F):5'- CAGGGTAGTGGCAGCAGC -3'
(R):5'- ATGGACCGTGGCTCTGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation