Incidental Mutation 'R4985:Pip4k2c'
| ID |
385838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip4k2c
|
| Ensembl Gene |
ENSMUSG00000025417 |
| Gene Name |
phosphatidylinositol-5-phosphate 4-kinase, type II, gamma |
| Synonyms |
Pip5k2c |
| MMRRC Submission |
042579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4985 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127032936-127047454 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127035244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 375
(I375V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013970]
[ENSMUST00000038217]
[ENSMUST00000116229]
[ENSMUST00000130855]
[ENSMUST00000137151]
[ENSMUST00000144322]
|
| AlphaFold |
Q91XU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013970
AA Change: I375V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
AA Change: I375V
| 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: ENSMUST00000137151
|
| 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
|
| Meta Mutation Damage Score |
0.0763 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921508M14Rik |
A |
T |
12: 34,924,457 (GRCm39) |
|
probably benign |
Het |
| Actn4 |
A |
G |
7: 28,618,411 (GRCm39) |
L83P |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,276,376 (GRCm39) |
R331G |
possibly damaging |
Het |
| Bmal1 |
T |
C |
7: 112,884,280 (GRCm39) |
V106A |
probably damaging |
Het |
| Brf1 |
G |
T |
12: 112,932,990 (GRCm39) |
|
probably null |
Het |
| Cd248 |
C |
T |
19: 5,119,820 (GRCm39) |
T556I |
probably damaging |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,480 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,901,772 (GRCm39) |
E399G |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,245,193 (GRCm39) |
R134H |
unknown |
Het |
| Ddb2 |
T |
C |
2: 91,042,643 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
A |
G |
16: 31,606,953 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
G |
14: 31,008,855 (GRCm39) |
E1973A |
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,691,017 (GRCm39) |
T284A |
probably benign |
Het |
| Ecm1 |
C |
T |
3: 95,643,415 (GRCm39) |
R295H |
possibly damaging |
Het |
| Efcab5 |
T |
A |
11: 77,029,055 (GRCm39) |
H92L |
probably damaging |
Het |
| Egfr |
C |
A |
11: 16,809,029 (GRCm39) |
Y74* |
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,040,692 (GRCm39) |
I838V |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,454,643 (GRCm39) |
R79Q |
probably damaging |
Het |
| Gm11568 |
C |
A |
11: 99,749,274 (GRCm39) |
P160T |
unknown |
Het |
| Gm29106 |
A |
T |
1: 118,126,950 (GRCm39) |
D214V |
probably benign |
Het |
| Htr3b |
C |
A |
9: 48,847,241 (GRCm39) |
V425F |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,146 (GRCm39) |
E347V |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,551 (GRCm39) |
I708V |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,645 (GRCm39) |
K221I |
probably damaging |
Het |
| Lmntd2 |
A |
C |
7: 140,793,190 (GRCm39) |
S127R |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,234,743 (GRCm39) |
|
probably null |
Het |
| Mettl26 |
T |
A |
17: 26,095,750 (GRCm39) |
*202R |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,656,016 (GRCm39) |
K485E |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,325,944 (GRCm39) |
C88R |
probably benign |
Het |
| Or2d2 |
C |
A |
7: 106,728,234 (GRCm39) |
R122L |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,658 (GRCm39) |
I47N |
possibly damaging |
Het |
| Pafah1b1 |
T |
G |
11: 74,576,814 (GRCm39) |
D159A |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,698 (GRCm39) |
V235A |
probably benign |
Het |
| Pcf11 |
T |
C |
7: 92,311,110 (GRCm39) |
T293A |
probably benign |
Het |
| Pidd1 |
A |
C |
7: 141,018,504 (GRCm39) |
*916E |
probably null |
Het |
| Pou3f2 |
A |
T |
4: 22,487,588 (GRCm39) |
S182T |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,334,821 (GRCm39) |
D164V |
unknown |
Het |
| Rnf8 |
T |
C |
17: 29,845,834 (GRCm39) |
S199P |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,195 (GRCm39) |
S185P |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,193,059 (GRCm39) |
V565L |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,078,033 (GRCm39) |
F274I |
probably damaging |
Het |
| Tgif1 |
T |
C |
17: 71,151,867 (GRCm39) |
Y248C |
probably benign |
Het |
| Tlx1 |
C |
A |
19: 45,139,421 (GRCm39) |
Q23K |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Tspyl1 |
G |
A |
10: 34,158,334 (GRCm39) |
D20N |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,959 (GRCm39) |
F24L |
probably damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,230 (GRCm39) |
V287D |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,340,228 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
T |
G |
8: 123,994,646 (GRCm39) |
V571G |
probably damaging |
Het |
|
| Other mutations in Pip4k2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01467:Pip4k2c
|
APN |
10 |
127,035,498 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACTCACAGGAGCTCTC -3'
(R):5'- TCTATGCTATCCGGAGTGCG -3'
Sequencing Primer
(F):5'- GGAGCTCTCCGCCTCCC -3'
(R):5'- CCTGGAAATGTTAGGGGGAGC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation