Incidental Mutation 'IGL01467:Pip4k2c'
| ID |
88144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pip4k2c
|
| Ensembl Gene |
ENSMUSG00000025417 |
| Gene Name |
phosphatidylinositol-5-phosphate 4-kinase, type II, gamma |
| Synonyms |
Pip5k2c |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127032936-127047454 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127035498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 347
(F347L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013970]
[ENSMUST00000038217]
[ENSMUST00000116229]
[ENSMUST00000130855]
[ENSMUST00000144322]
|
| AlphaFold |
Q91XU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013970
AA Change: F347L
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
AA Change: F347L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
41 |
N/A |
INTRINSIC |
|
PIPKc
|
72 |
420 |
2.3e-172 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038217
|
| SMART Domains |
Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
73 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
154 |
N/A |
INTRINSIC |
|
RING
|
164 |
202 |
1.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116229
|
| SMART Domains |
Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
73 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
154 |
N/A |
INTRINSIC |
|
RING
|
164 |
202 |
1.04e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130855
|
| SMART Domains |
Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
76 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
157 |
N/A |
INTRINSIC |
|
RING
|
167 |
205 |
1.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144322
|
| SMART Domains |
Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
76 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218386
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele develop enhanced immune responses associated with T cell hyperactivation, increased T cell proliferation, increased immune infiltrates in various tissues, increased plasma cytokine levels, and increased mTORC1 signaling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
G |
5: 121,657,791 (GRCm39) |
C501R |
probably damaging |
Het |
| Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
| Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,003,512 (GRCm39) |
N221S |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
| Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
| Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
| Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
| Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
| Or2m13 |
T |
C |
16: 19,226,539 (GRCm39) |
T77A |
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,116,398 (GRCm39) |
T251A |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
| Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
| Pnisr |
C |
T |
4: 21,874,650 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
| Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,403,767 (GRCm39) |
C369* |
probably null |
Het |
|
| Other mutations in Pip4k2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0281:Pip4k2c
|
UTSW |
10 |
127,041,690 (GRCm39) |
splice site |
probably null |
|
|
R0433:Pip4k2c
|
UTSW |
10 |
127,044,815 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0834:Pip4k2c
|
UTSW |
10 |
127,036,704 (GRCm39) |
splice site |
probably benign |
|
|
R1170:Pip4k2c
|
UTSW |
10 |
127,047,262 (GRCm39) |
missense |
unknown |
|
|
R1851:Pip4k2c
|
UTSW |
10 |
127,036,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Pip4k2c
|
UTSW |
10 |
127,034,958 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4750:Pip4k2c
|
UTSW |
10 |
127,047,286 (GRCm39) |
missense |
unknown |
|
|
R4915:Pip4k2c
|
UTSW |
10 |
127,035,196 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4916:Pip4k2c
|
UTSW |
10 |
127,035,196 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4918:Pip4k2c
|
UTSW |
10 |
127,035,196 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4985:Pip4k2c
|
UTSW |
10 |
127,035,244 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6019:Pip4k2c
|
UTSW |
10 |
127,034,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Pip4k2c
|
UTSW |
10 |
127,044,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7586:Pip4k2c
|
UTSW |
10 |
127,034,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8793:Pip4k2c
|
UTSW |
10 |
127,042,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8829:Pip4k2c
|
UTSW |
10 |
127,037,037 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8832:Pip4k2c
|
UTSW |
10 |
127,037,037 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8942:Pip4k2c
|
UTSW |
10 |
127,036,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Pip4k2c
|
UTSW |
10 |
127,035,246 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9610:Pip4k2c
|
UTSW |
10 |
127,036,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Pip4k2c
|
UTSW |
10 |
127,036,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Pip4k2c
|
UTSW |
10 |
127,041,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation