Incidental Mutation 'IGL01704:Ppip5k1'
| ID |
104529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01704
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121142555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1278
(T1278M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000094639]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000110639]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052029
AA Change: T1298M
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: T1298M
| 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: ENSMUST00000094639
|
| SMART Domains |
Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
286 |
538 |
2e-54 |
BLAST |
|
SCOP:d1eq1a_
|
584 |
699 |
8e-5 |
SMART |
|
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
1228 |
1239 |
N/A |
INTRINSIC |
|
low complexity region
|
1334 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1540 |
1555 |
N/A |
INTRINSIC |
|
coiled coil region
|
1573 |
1602 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1616 |
1726 |
7.66e-6 |
PROSPERO |
|
coiled coil region
|
1747 |
1771 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1774 |
1888 |
7.66e-6 |
PROSPERO |
|
low complexity region
|
2060 |
2084 |
N/A |
INTRINSIC |
|
low complexity region
|
2121 |
2133 |
N/A |
INTRINSIC |
|
low complexity region
|
2156 |
2169 |
N/A |
INTRINSIC |
|
low complexity region
|
2383 |
2396 |
N/A |
INTRINSIC |
|
low complexity region
|
2436 |
2460 |
N/A |
INTRINSIC |
|
low complexity region
|
2517 |
2541 |
N/A |
INTRINSIC |
|
low complexity region
|
2589 |
2600 |
N/A |
INTRINSIC |
|
low complexity region
|
2662 |
2682 |
N/A |
INTRINSIC |
|
low complexity region
|
2685 |
2704 |
N/A |
INTRINSIC |
|
low complexity region
|
2716 |
2728 |
N/A |
INTRINSIC |
|
low complexity region
|
2766 |
2790 |
N/A |
INTRINSIC |
|
low complexity region
|
2980 |
2988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110625
AA Change: T1277M
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: T1277M
| 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
AA Change: T1298M
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: T1298M
| 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 |
possibly damaging
Transcript: ENSMUST00000110627
AA Change: T1277M
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: T1277M
| 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 |
possibly damaging
Transcript: ENSMUST00000110628
AA Change: T1278M
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: T1278M
| 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: ENSMUST00000110639
|
| SMART Domains |
Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
48 |
300 |
3e-54 |
BLAST |
|
SCOP:d1eq1a_
|
346 |
461 |
1e-4 |
SMART |
|
low complexity region
|
505 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1106 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1317 |
N/A |
INTRINSIC |
|
coiled coil region
|
1335 |
1364 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1378 |
1488 |
5.43e-6 |
PROSPERO |
|
coiled coil region
|
1509 |
1533 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1536 |
1650 |
5.43e-6 |
PROSPERO |
|
low complexity region
|
1822 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1883 |
1895 |
N/A |
INTRINSIC |
|
low complexity region
|
1918 |
1931 |
N/A |
INTRINSIC |
|
low complexity region
|
2145 |
2158 |
N/A |
INTRINSIC |
|
low complexity region
|
2198 |
2222 |
N/A |
INTRINSIC |
|
low complexity region
|
2279 |
2303 |
N/A |
INTRINSIC |
|
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
low complexity region
|
2424 |
2444 |
N/A |
INTRINSIC |
|
low complexity region
|
2447 |
2466 |
N/A |
INTRINSIC |
|
low complexity region
|
2478 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2528 |
2552 |
N/A |
INTRINSIC |
|
low complexity region
|
2742 |
2750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133283
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brsk1 |
A |
G |
7: 4,707,260 (GRCm39) |
E271G |
probably benign |
Het |
| Card9 |
A |
G |
2: 26,246,874 (GRCm39) |
F325L |
probably benign |
Het |
| Cct8l1 |
T |
A |
5: 25,722,097 (GRCm39) |
S271T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,800,979 (GRCm39) |
Y125H |
probably benign |
Het |
| Csn1s2b |
T |
G |
5: 87,960,970 (GRCm39) |
S25R |
probably damaging |
Het |
| Dnmt1 |
C |
T |
9: 20,821,476 (GRCm39) |
V1227I |
probably damaging |
Het |
| Fpr1 |
G |
A |
17: 18,097,234 (GRCm39) |
R252W |
possibly damaging |
Het |
| Gm15155 |
T |
A |
X: 155,086,252 (GRCm39) |
D69E |
unknown |
Het |
| Hltf |
T |
C |
3: 20,137,910 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,056,692 (GRCm39) |
I130V |
possibly damaging |
Het |
| Klra9 |
G |
T |
6: 130,166,744 (GRCm39) |
S40* |
probably null |
Het |
| Ldoc1 |
C |
A |
X: 60,753,537 (GRCm39) |
Y74* |
probably null |
Het |
| Lias |
G |
T |
5: 65,562,673 (GRCm39) |
V318F |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,926,932 (GRCm39) |
V48A |
possibly damaging |
Het |
| Myo9b |
C |
T |
8: 71,812,286 (GRCm39) |
P2019L |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,059,588 (GRCm39) |
|
probably benign |
Het |
| Or5b97 |
T |
C |
19: 12,879,103 (GRCm39) |
I14V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,839,783 (GRCm39) |
D497G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,504 (GRCm39) |
D1535G |
probably damaging |
Het |
| Pcx |
G |
T |
19: 4,671,088 (GRCm39) |
K1103N |
probably damaging |
Het |
| Pdgfd |
G |
A |
9: 6,337,327 (GRCm39) |
V220M |
probably damaging |
Het |
| Pola2 |
A |
G |
19: 5,992,047 (GRCm39) |
S542P |
probably damaging |
Het |
| Pramel11 |
C |
T |
4: 143,622,201 (GRCm39) |
D385N |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,262,795 (GRCm39) |
V11A |
possibly damaging |
Het |
| Rhox2f |
T |
A |
X: 36,753,634 (GRCm39) |
V124E |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,340,702 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,041,913 (GRCm39) |
|
probably benign |
Het |
| Smco1 |
T |
C |
16: 32,092,704 (GRCm39) |
V125A |
probably benign |
Het |
| Tg |
A |
T |
15: 66,543,200 (GRCm39) |
Q38L |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,630,192 (GRCm39) |
S633T |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,168,073 (GRCm39) |
F776L |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,895,676 (GRCm39) |
V724G |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation