Incidental Mutation 'R7462:Ppip5k1'
| ID |
578489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
045536-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R7462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121167232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 847
(V847D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057632
(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: V847D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: V847D
| 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: V847D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: V847D
| 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: V847D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: V847D
| 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: V847D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: V847D
| 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: V827D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: V827D
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117948
Gene: ENSMUSG00000033526
AA Change: V57D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
117 |
1.4e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132613
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155568
AA Change: V48D
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116335
Gene: ENSMUSG00000033526
AA Change: V48D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
107 |
8.6e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.8991 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
G |
C |
3: 126,736,683 (GRCm39) |
T3067S |
unknown |
Het |
| Ankrd28 |
T |
C |
14: 31,500,886 (GRCm39) |
N35S |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,060 (GRCm39) |
S996T |
possibly damaging |
Het |
| Btbd7 |
T |
C |
12: 102,803,981 (GRCm39) |
E353G |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,494,764 (GRCm39) |
Y924F |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,628,621 (GRCm39) |
I362T |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,253,462 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
T |
A |
8: 37,405,118 (GRCm39) |
T224S |
unknown |
Het |
| Dmxl2 |
T |
C |
9: 54,273,916 (GRCm39) |
|
probably null |
Het |
| Dnajc1 |
A |
G |
2: 18,313,710 (GRCm39) |
F137S |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,836,722 (GRCm39) |
T24A |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,301,638 (GRCm39) |
E317G |
probably null |
Het |
| Fpr-rs6 |
A |
G |
17: 20,402,485 (GRCm39) |
L292P |
probably damaging |
Het |
| Gca |
G |
T |
2: 62,502,753 (GRCm39) |
D54Y |
possibly damaging |
Het |
| Gm45861 |
G |
A |
8: 28,024,517 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,080,055 (GRCm39) |
|
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
| Hgsnat |
T |
C |
8: 26,447,241 (GRCm39) |
N351S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,383 (GRCm39) |
V303E |
probably damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,063 (GRCm39) |
W302L |
probably damaging |
Het |
| Igkv4-74 |
T |
A |
6: 69,162,100 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,476,673 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
A |
G |
7: 97,155,335 (GRCm39) |
D329G |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,650,073 (GRCm39) |
F249S |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,932,089 (GRCm39) |
E672G |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,974,083 (GRCm39) |
I359T |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,003,041 (GRCm39) |
E2030G |
|
Het |
| Macf1 |
T |
A |
4: 123,386,556 (GRCm39) |
K1114N |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,892 (GRCm39) |
M701V |
possibly damaging |
Het |
| Mcemp1 |
A |
T |
8: 3,717,065 (GRCm39) |
M69L |
probably benign |
Het |
| Mfsd4b2 |
T |
A |
10: 39,797,877 (GRCm39) |
K159N |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,938,109 (GRCm39) |
D243E |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,931,568 (GRCm39) |
S873G |
unknown |
Het |
| Mug1 |
A |
T |
6: 121,852,399 (GRCm39) |
Q829L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,439 (GRCm39) |
V726E |
probably damaging |
Het |
| Nfib |
T |
C |
4: 82,271,826 (GRCm39) |
Q247R |
probably benign |
Het |
| Npbwr1 |
T |
C |
1: 5,987,151 (GRCm39) |
N121S |
probably damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,296 (GRCm39) |
D171G |
probably benign |
Het |
| Or52b2 |
T |
A |
7: 104,986,707 (GRCm39) |
D72V |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,379 (GRCm39) |
C240* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,355,409 (GRCm39) |
S726G |
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ripor2 |
G |
A |
13: 24,880,290 (GRCm39) |
V385M |
unknown |
Het |
| Rufy1 |
C |
T |
11: 50,298,655 (GRCm39) |
V379M |
possibly damaging |
Het |
| S100a5 |
A |
G |
3: 90,517,207 (GRCm39) |
K26R |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 57,002,809 (GRCm39) |
S234P |
probably benign |
Het |
| Sirt7 |
G |
A |
11: 120,511,618 (GRCm39) |
T225I |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 24,006,401 (GRCm39) |
T476S |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,351 (GRCm39) |
M331K |
probably benign |
Het |
| Spam1 |
T |
C |
6: 24,796,907 (GRCm39) |
I286T |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,002,793 (GRCm39) |
I214F |
possibly damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,226,643 (GRCm39) |
L427P |
probably damaging |
Het |
| Tpbg |
G |
A |
9: 85,726,903 (GRCm39) |
A291T |
possibly damaging |
Het |
| Zfp40 |
A |
G |
17: 23,397,362 (GRCm39) |
F45S |
possibly damaging |
Het |
| Zfp451 |
C |
T |
1: 33,816,094 (GRCm39) |
V619M |
probably damaging |
Het |
| Zim1 |
A |
G |
7: 6,680,811 (GRCm39) |
L284P |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
| Zmynd11 |
T |
A |
13: 9,748,720 (GRCm39) |
N154Y |
probably benign |
Het |
| Zscan12 |
A |
T |
13: 21,553,457 (GRCm39) |
H427L |
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 |
|
|
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 |
|
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'- TGCCCAAGGACAAGTCAGAG -3'
(R):5'- TCAACAAGCTGCATCCCCTG -3'
Sequencing Primer
(F):5'- GGAAACGGCAAAAGGTCCC -3'
(R):5'- AAGCTGCATCCCCTGTGAGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation