Incidental Mutation 'IGL01559:Pi4kb'
ID |
90797 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pi4kb
|
Ensembl Gene |
ENSMUSG00000038861 |
Gene Name |
phosphatidylinositol 4-kinase beta |
Synonyms |
Pik4cb, ESTM41 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
IGL01559
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
94882042-94914154 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94891440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 52
(L52Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000138209]
[ENSMUST00000167008]
|
AlphaFold |
Q8BKC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072287
AA Change: L40Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000072134 Gene: ENSMUSG00000038861 AA Change: L40Q
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
SCOP:d1e8xa1
|
140 |
231 |
5e-22 |
SMART |
PI3Kc
|
545 |
799 |
6.47e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107251
AA Change: L40Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000102872 Gene: ENSMUSG00000038861 AA Change: L40Q
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
SCOP:d1e8xa1
|
140 |
231 |
5e-22 |
SMART |
PI3Kc
|
560 |
814 |
6.47e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125476
AA Change: L52Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000121965 Gene: ENSMUSG00000038861 AA Change: L52Q
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
SCOP:d1e8xa1
|
152 |
243 |
5e-22 |
SMART |
PI3Kc
|
572 |
826 |
6.47e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167008
|
SMART Domains |
Protein: ENSMUSP00000132150 Gene: ENSMUSG00000038861
Domain | Start | End | E-Value | Type |
PI3Kc
|
228 |
482 |
6.47e-105 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,259,020 (GRCm39) |
N2915K |
possibly damaging |
Het |
Abca5 |
T |
C |
11: 110,163,352 (GRCm39) |
N1621S |
probably benign |
Het |
Asb18 |
G |
A |
1: 89,882,172 (GRCm39) |
S122F |
probably damaging |
Het |
Atg4c |
A |
G |
4: 99,106,440 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
T |
C |
3: 36,648,659 (GRCm39) |
Y363C |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,314,183 (GRCm39) |
T1281A |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,775,883 (GRCm39) |
N295S |
probably damaging |
Het |
Csn1s2b |
A |
T |
5: 87,968,810 (GRCm39) |
K80* |
probably null |
Het |
Dennd6a |
A |
G |
14: 26,329,720 (GRCm39) |
D97G |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,054,005 (GRCm39) |
Y2537C |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,001,235 (GRCm39) |
|
probably null |
Het |
Exoc4 |
A |
G |
6: 33,243,011 (GRCm39) |
T75A |
probably damaging |
Het |
Fbll1 |
T |
C |
11: 35,688,372 (GRCm39) |
E297G |
probably damaging |
Het |
Gm10642 |
T |
A |
9: 70,563,874 (GRCm39) |
D152V |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,076,725 (GRCm39) |
|
probably benign |
Het |
Kif17 |
A |
G |
4: 138,021,080 (GRCm39) |
I850V |
probably damaging |
Het |
Or2l13 |
T |
C |
16: 19,306,209 (GRCm39) |
L207P |
probably benign |
Het |
Sec14l1 |
C |
A |
11: 117,034,110 (GRCm39) |
|
probably null |
Het |
Slc28a2 |
T |
A |
2: 122,285,021 (GRCm39) |
H336Q |
probably damaging |
Het |
Usp17lb |
A |
G |
7: 104,490,436 (GRCm39) |
S164P |
probably damaging |
Het |
|
Other mutations in Pi4kb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00424:Pi4kb
|
APN |
3 |
94,911,574 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03003:Pi4kb
|
APN |
3 |
94,892,123 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03087:Pi4kb
|
APN |
3 |
94,892,075 (GRCm39) |
missense |
probably benign |
|
R0014:Pi4kb
|
UTSW |
3 |
94,906,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R0196:Pi4kb
|
UTSW |
3 |
94,906,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R0387:Pi4kb
|
UTSW |
3 |
94,892,051 (GRCm39) |
missense |
probably benign |
0.42 |
R0394:Pi4kb
|
UTSW |
3 |
94,904,116 (GRCm39) |
intron |
probably benign |
|
R0394:Pi4kb
|
UTSW |
3 |
94,904,115 (GRCm39) |
intron |
probably benign |
|
R1485:Pi4kb
|
UTSW |
3 |
94,901,698 (GRCm39) |
missense |
probably damaging |
0.99 |
R3700:Pi4kb
|
UTSW |
3 |
94,901,599 (GRCm39) |
missense |
probably benign |
0.09 |
R4449:Pi4kb
|
UTSW |
3 |
94,892,046 (GRCm39) |
missense |
probably benign |
0.41 |
R4502:Pi4kb
|
UTSW |
3 |
94,903,918 (GRCm39) |
missense |
probably benign |
0.02 |
R4717:Pi4kb
|
UTSW |
3 |
94,906,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4737:Pi4kb
|
UTSW |
3 |
94,911,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R4763:Pi4kb
|
UTSW |
3 |
94,911,720 (GRCm39) |
intron |
probably benign |
|
R5322:Pi4kb
|
UTSW |
3 |
94,901,560 (GRCm39) |
missense |
probably benign |
0.04 |
R5427:Pi4kb
|
UTSW |
3 |
94,901,518 (GRCm39) |
missense |
probably benign |
0.09 |
R5622:Pi4kb
|
UTSW |
3 |
94,906,172 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5625:Pi4kb
|
UTSW |
3 |
94,891,988 (GRCm39) |
missense |
probably benign |
0.15 |
R5755:Pi4kb
|
UTSW |
3 |
94,901,608 (GRCm39) |
splice site |
probably null |
|
R5926:Pi4kb
|
UTSW |
3 |
94,906,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6904:Pi4kb
|
UTSW |
3 |
94,900,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R6984:Pi4kb
|
UTSW |
3 |
94,904,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R7221:Pi4kb
|
UTSW |
3 |
94,901,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R7312:Pi4kb
|
UTSW |
3 |
94,891,888 (GRCm39) |
missense |
probably benign |
0.12 |
R7511:Pi4kb
|
UTSW |
3 |
94,896,623 (GRCm39) |
missense |
probably benign |
0.00 |
R7571:Pi4kb
|
UTSW |
3 |
94,906,425 (GRCm39) |
critical splice donor site |
probably null |
|
R7885:Pi4kb
|
UTSW |
3 |
94,906,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R8327:Pi4kb
|
UTSW |
3 |
94,906,192 (GRCm39) |
missense |
probably benign |
0.02 |
R8331:Pi4kb
|
UTSW |
3 |
94,903,995 (GRCm39) |
missense |
probably null |
0.99 |
R8829:Pi4kb
|
UTSW |
3 |
94,900,344 (GRCm39) |
missense |
probably damaging |
0.99 |
R8832:Pi4kb
|
UTSW |
3 |
94,900,344 (GRCm39) |
missense |
probably damaging |
0.99 |
R9047:Pi4kb
|
UTSW |
3 |
94,900,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R9255:Pi4kb
|
UTSW |
3 |
94,906,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R9269:Pi4kb
|
UTSW |
3 |
94,891,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R9326:Pi4kb
|
UTSW |
3 |
94,900,506 (GRCm39) |
critical splice donor site |
probably null |
|
Z1088:Pi4kb
|
UTSW |
3 |
94,891,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |