Incidental Mutation 'R4022:Ppip5k1'
| ID |
313281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
040956-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R4022 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121168108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 715
(R715H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000155568]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052029
AA Change: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: R715H
| 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 damaging
Transcript: ENSMUST00000110625
AA Change: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: R715H
| 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 damaging
Transcript: ENSMUST00000110626
AA Change: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: R715H
| 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 damaging
Transcript: ENSMUST00000110627
AA Change: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: R715H
| 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 damaging
Transcript: ENSMUST00000110628
AA Change: R715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: R715H
| 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 |
noncoding transcript
Transcript: ENSMUST00000142364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132617
|
| 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 |
|
| Meta Mutation Damage Score |
0.8893 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
T |
A |
2: 26,733,812 (GRCm39) |
Y131F |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
| Ago3 |
T |
A |
4: 126,262,386 (GRCm39) |
N388I |
probably benign |
Het |
| Arfgef2 |
G |
T |
2: 166,715,865 (GRCm39) |
V1385L |
probably benign |
Het |
| Camk2a |
A |
T |
18: 61,097,000 (GRCm39) |
K28* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,904,560 (GRCm39) |
Y385* |
probably null |
Het |
| Cd209g |
A |
T |
8: 4,185,955 (GRCm39) |
Q46L |
possibly damaging |
Het |
| Cdh22 |
T |
C |
2: 164,999,173 (GRCm39) |
T220A |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,611,174 (GRCm39) |
C562S |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,913,465 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Erbb2 |
T |
G |
11: 98,326,123 (GRCm39) |
C966W |
probably benign |
Het |
| Exoc1 |
C |
T |
5: 76,697,417 (GRCm39) |
T405I |
possibly damaging |
Het |
| Fbxo28 |
T |
C |
1: 182,157,475 (GRCm39) |
N108S |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,352,409 (GRCm39) |
E157G |
probably benign |
Het |
| Gstcd |
C |
T |
3: 132,787,829 (GRCm39) |
V290M |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,089,425 (GRCm39) |
V2A |
possibly damaging |
Het |
| Ilrun |
T |
C |
17: 28,005,236 (GRCm39) |
E107G |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,674,927 (GRCm39) |
R23H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lax1 |
C |
T |
1: 133,610,774 (GRCm39) |
G105S |
probably benign |
Het |
| Lin7c |
G |
T |
2: 109,726,790 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
T |
C |
1: 132,866,852 (GRCm39) |
V639A |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,269,504 (GRCm39) |
S576P |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,377 (GRCm39) |
A48E |
probably damaging |
Het |
| Mat2a |
G |
A |
6: 72,413,227 (GRCm39) |
R168C |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,037,200 (GRCm39) |
V700A |
probably damaging |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,070,230 (GRCm39) |
E421* |
probably null |
Het |
| Or12d2 |
T |
A |
17: 37,625,165 (GRCm39) |
I37L |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,483 (GRCm39) |
I150M |
possibly damaging |
Het |
| Pecam1 |
T |
C |
11: 106,545,986 (GRCm39) |
N693D |
probably benign |
Het |
| Prune2 |
A |
G |
19: 16,977,384 (GRCm39) |
T40A |
probably damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Reln |
T |
C |
5: 22,432,628 (GRCm39) |
Q124R |
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sall3 |
T |
A |
18: 81,013,055 (GRCm39) |
E1127V |
probably benign |
Het |
| Sertad3 |
A |
G |
7: 27,176,120 (GRCm39) |
N185D |
probably damaging |
Het |
| Sox1 |
A |
G |
8: 12,446,719 (GRCm39) |
Y120C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
| Spart |
G |
T |
3: 55,025,157 (GRCm39) |
V251L |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,636 (GRCm39) |
E3631G |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,721,480 (GRCm39) |
T848A |
probably benign |
Het |
| Tmem11 |
T |
C |
11: 60,756,154 (GRCm39) |
D12G |
possibly damaging |
Het |
| Trim28 |
T |
C |
7: 12,762,485 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
T |
A |
6: 115,524,948 (GRCm39) |
V49E |
probably damaging |
Het |
| Tspan1 |
C |
T |
4: 116,024,232 (GRCm39) |
M10I |
probably benign |
Het |
| Uncx |
A |
T |
5: 139,532,444 (GRCm39) |
T170S |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,421 (GRCm39) |
|
probably benign |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,857 (GRCm39) |
I267V |
probably benign |
Het |
| Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
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 |
|
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 |
|
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'- TCCCTTATGTGAGACCCACCTG -3'
(R):5'- CCCAGCTCTGTAGGTTGGTATG -3'
Sequencing Primer
(F):5'- CTGGGGAATGACCACGTCAG -3'
(R):5'- GTTGGTATGAATACTACTGACCGCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation