Incidental Mutation 'R2293:Pip5k1c'
| ID |
245082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip5k1c
|
| Ensembl Gene |
ENSMUSG00000034902 |
| Gene Name |
phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma |
| Synonyms |
PIP5KIgamma |
| MMRRC Submission |
040292-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81128797-81155807 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81149918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 42
(E42G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045469]
[ENSMUST00000105327]
[ENSMUST00000160291]
[ENSMUST00000161719]
[ENSMUST00000163075]
[ENSMUST00000161854]
[ENSMUST00000161869]
|
| AlphaFold |
O70161 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045469
AA Change: E590G
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038225
Gene: ENSMUSG00000034902
AA Change: E590G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
|
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105327
AA Change: E590G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000100964
Gene: ENSMUSG00000034902
AA Change: E590G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
|
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160291
|
| SMART Domains |
Protein: ENSMUSP00000125645
Gene: ENSMUSG00000034902
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161586
AA Change: E42G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124612
Gene: ENSMUSG00000034902
AA Change: E42G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161719
|
| SMART Domains |
Protein: ENSMUSP00000125461
Gene: ENSMUSG00000034902
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIP5K
|
1 |
133 |
1.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163075
AA Change: E590G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124155
Gene: ENSMUSG00000034902
AA Change: E590G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
|
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161854
|
| SMART Domains |
Protein: ENSMUSP00000124004
Gene: ENSMUSG00000034902
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161869
|
| SMART Domains |
Protein: ENSMUSP00000124235
Gene: ENSMUSG00000034902
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
T |
C |
7: 140,682,428 (GRCm39) |
N640S |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,261,096 (GRCm39) |
I143N |
probably damaging |
Het |
| Arhgef11 |
C |
T |
3: 87,635,297 (GRCm39) |
R869C |
probably damaging |
Het |
| Bcl6 |
T |
C |
16: 23,796,359 (GRCm39) |
N23D |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,483,999 (GRCm39) |
F2939L |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,417,670 (GRCm39) |
T318S |
possibly damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,180 (GRCm39) |
S1009A |
probably benign |
Het |
| Dlx6 |
A |
G |
6: 6,867,246 (GRCm39) |
Y283C |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,896,285 (GRCm39) |
Y3550H |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,854,606 (GRCm39) |
S1553G |
probably damaging |
Het |
| Ice1 |
C |
A |
13: 70,763,076 (GRCm39) |
D193Y |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,615,759 (GRCm39) |
L547* |
probably null |
Het |
| Mgat4a |
C |
A |
1: 37,491,673 (GRCm39) |
R215L |
probably damaging |
Het |
| Msantd2 |
A |
G |
9: 37,401,100 (GRCm39) |
T69A |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,360,936 (GRCm39) |
T1416A |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,916,887 (GRCm39) |
S1181P |
probably benign |
Het |
| Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
| Slc16a14 |
A |
T |
1: 84,890,564 (GRCm39) |
M247K |
probably benign |
Het |
| Slc35b2 |
T |
A |
17: 45,878,067 (GRCm39) |
V398E |
probably damaging |
Het |
| Slc44a5 |
C |
A |
3: 153,945,934 (GRCm39) |
L156I |
probably benign |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably damaging |
Het |
|
| Other mutations in Pip5k1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Pip5k1c
|
APN |
10 |
81,141,545 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02274:Pip5k1c
|
APN |
10 |
81,142,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02500:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02565:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02577:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02579:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02581:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02604:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02610:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02613:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02616:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02617:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02639:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02641:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02642:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02724:Pip5k1c
|
APN |
10 |
81,149,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02751:Pip5k1c
|
APN |
10 |
81,153,155 (GRCm39) |
splice site |
probably null |
|
|
PIT4366001:Pip5k1c
|
UTSW |
10 |
81,144,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0257:Pip5k1c
|
UTSW |
10 |
81,150,930 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1643:Pip5k1c
|
UTSW |
10 |
81,150,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1663:Pip5k1c
|
UTSW |
10 |
81,148,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Pip5k1c
|
UTSW |
10 |
81,142,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2295:Pip5k1c
|
UTSW |
10 |
81,141,020 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2310:Pip5k1c
|
UTSW |
10 |
81,142,142 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2406:Pip5k1c
|
UTSW |
10 |
81,144,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4504:Pip5k1c
|
UTSW |
10 |
81,150,945 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4772:Pip5k1c
|
UTSW |
10 |
81,151,774 (GRCm39) |
missense |
probably benign |
|
|
R5022:Pip5k1c
|
UTSW |
10 |
81,146,723 (GRCm39) |
splice site |
probably null |
|
|
R5023:Pip5k1c
|
UTSW |
10 |
81,146,723 (GRCm39) |
splice site |
probably null |
|
|
R5033:Pip5k1c
|
UTSW |
10 |
81,141,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5057:Pip5k1c
|
UTSW |
10 |
81,146,723 (GRCm39) |
splice site |
probably null |
|
|
R5482:Pip5k1c
|
UTSW |
10 |
81,128,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6305:Pip5k1c
|
UTSW |
10 |
81,151,768 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6511:Pip5k1c
|
UTSW |
10 |
81,146,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6544:Pip5k1c
|
UTSW |
10 |
81,144,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Pip5k1c
|
UTSW |
10 |
81,150,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7581:Pip5k1c
|
UTSW |
10 |
81,144,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Pip5k1c
|
UTSW |
10 |
81,142,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Pip5k1c
|
UTSW |
10 |
81,147,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8927:Pip5k1c
|
UTSW |
10 |
81,128,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8928:Pip5k1c
|
UTSW |
10 |
81,128,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9048:Pip5k1c
|
UTSW |
10 |
81,152,710 (GRCm39) |
intron |
probably benign |
|
|
R9049:Pip5k1c
|
UTSW |
10 |
81,152,710 (GRCm39) |
intron |
probably benign |
|
|
R9100:Pip5k1c
|
UTSW |
10 |
81,145,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9443:Pip5k1c
|
UTSW |
10 |
81,153,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9448:Pip5k1c
|
UTSW |
10 |
81,141,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Pip5k1c
|
UTSW |
10 |
81,152,710 (GRCm39) |
intron |
probably benign |
|
|
R9775:Pip5k1c
|
UTSW |
10 |
81,147,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9780:Pip5k1c
|
UTSW |
10 |
81,141,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Pip5k1c
|
UTSW |
10 |
81,150,866 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACCCCAGGCTAGGACTC -3'
(R):5'- CGAGACCACAGTGCATTTTC -3'
Sequencing Primer
(F):5'- AGGCTAGGACTCCCTGGGAAC -3'
(R):5'- CTGGCCTTGAACTCACAGAGATTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation