Incidental Mutation 'R1485:Pi4kb'
ID |
163378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pi4kb
|
Ensembl Gene |
ENSMUSG00000038861 |
Gene Name |
phosphatidylinositol 4-kinase beta |
Synonyms |
Pik4cb, ESTM41 |
MMRRC Submission |
039538-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R1485 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94882042-94914154 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94901698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 455
(E455G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000133297]
[ENSMUST00000138209]
[ENSMUST00000167008]
|
AlphaFold |
Q8BKC8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072287
AA Change: E455G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072134 Gene: ENSMUSG00000038861 AA Change: E455G
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: E470G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102872 Gene: ENSMUSG00000038861 AA Change: E470G
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: E482G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000121965 Gene: ENSMUSG00000038861 AA Change: E482G
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: ENSMUST00000133297
|
SMART Domains |
Protein: ENSMUSP00000123529 Gene: ENSMUSG00000038861
Domain | Start | End | E-Value | Type |
PI3Kc
|
1 |
225 |
7.13e-43 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138209
AA Change: E138G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167008
AA Change: E138G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000132150 Gene: ENSMUSG00000038861 AA Change: E138G
Domain | Start | End | E-Value | Type |
PI3Kc
|
228 |
482 |
6.47e-105 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143287
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,727,738 (GRCm39) |
S301P |
probably damaging |
Het |
AI987944 |
C |
A |
7: 41,023,954 (GRCm39) |
G342* |
probably null |
Het |
Alox5 |
A |
T |
6: 116,401,125 (GRCm39) |
F212I |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,896,105 (GRCm39) |
D322E |
probably benign |
Het |
Aste1 |
T |
A |
9: 105,275,009 (GRCm39) |
Y355* |
probably null |
Het |
Bloc1s6 |
T |
G |
2: 122,588,063 (GRCm39) |
|
probably null |
Het |
Bltp2 |
A |
G |
11: 78,176,406 (GRCm39) |
Y1836C |
probably damaging |
Het |
Castor2 |
T |
A |
5: 134,165,972 (GRCm39) |
L240Q |
probably damaging |
Het |
Ccdc77 |
G |
A |
6: 120,315,101 (GRCm39) |
Q183* |
probably null |
Het |
Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
Coch |
G |
T |
12: 51,645,072 (GRCm39) |
V209F |
probably damaging |
Het |
Cops3 |
G |
A |
11: 59,718,715 (GRCm39) |
T193M |
possibly damaging |
Het |
Cped1 |
T |
C |
6: 22,132,387 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
A |
T |
6: 87,088,067 (GRCm39) |
S77C |
unknown |
Het |
Defb7 |
A |
G |
8: 19,545,110 (GRCm39) |
|
probably null |
Het |
Dnaaf9 |
A |
G |
2: 130,590,603 (GRCm39) |
|
probably null |
Het |
Entpd6 |
T |
A |
2: 150,610,843 (GRCm39) |
|
probably null |
Het |
Evc2 |
C |
T |
5: 37,527,900 (GRCm39) |
A303V |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,063,430 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,712,676 (GRCm39) |
F54I |
probably benign |
Het |
Gm7104 |
C |
A |
12: 88,252,333 (GRCm39) |
|
noncoding transcript |
Het |
Grid1 |
A |
T |
14: 34,544,540 (GRCm39) |
D37V |
probably damaging |
Het |
Icam5 |
G |
A |
9: 20,947,702 (GRCm39) |
A560T |
probably benign |
Het |
Igf2r |
A |
C |
17: 12,910,172 (GRCm39) |
I2019S |
probably damaging |
Het |
Kcnj9 |
A |
G |
1: 172,153,929 (GRCm39) |
V65A |
probably benign |
Het |
Kif3b |
T |
C |
2: 153,164,851 (GRCm39) |
|
probably null |
Het |
Kmt2a |
T |
G |
9: 44,738,225 (GRCm39) |
|
probably benign |
Het |
Marchf6 |
T |
A |
15: 31,498,839 (GRCm39) |
T153S |
probably damaging |
Het |
Mcam |
T |
A |
9: 44,048,060 (GRCm39) |
I72N |
probably damaging |
Het |
Ncoa4-ps |
A |
G |
12: 119,224,785 (GRCm39) |
|
noncoding transcript |
Het |
Nkain3 |
T |
C |
4: 20,484,932 (GRCm39) |
I48M |
probably damaging |
Het |
Nop58 |
T |
A |
1: 59,737,504 (GRCm39) |
I107N |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,007,573 (GRCm39) |
H441R |
probably benign |
Het |
Nr1d1 |
G |
A |
11: 98,661,187 (GRCm39) |
R360C |
probably benign |
Het |
Or56a5 |
A |
G |
7: 104,792,888 (GRCm39) |
I210T |
probably benign |
Het |
Pclo |
T |
C |
5: 14,763,793 (GRCm39) |
S4089P |
unknown |
Het |
Piezo1 |
T |
C |
8: 123,208,788 (GRCm39) |
Y2525C |
probably damaging |
Het |
Pik3c2a |
A |
G |
7: 116,016,908 (GRCm39) |
V283A |
possibly damaging |
Het |
Pramel12 |
G |
A |
4: 143,144,188 (GRCm39) |
R178Q |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,426,401 (GRCm39) |
I815T |
probably benign |
Het |
Rev1 |
A |
T |
1: 38,127,653 (GRCm39) |
D202E |
probably benign |
Het |
Septin14 |
C |
T |
5: 129,770,118 (GRCm39) |
A193T |
probably damaging |
Het |
Sh3tc1 |
T |
C |
5: 35,876,370 (GRCm39) |
S112G |
probably benign |
Het |
Siah3 |
T |
A |
14: 75,762,994 (GRCm39) |
Y82N |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,250,853 (GRCm39) |
S425P |
probably damaging |
Het |
Slc9a2 |
C |
T |
1: 40,765,548 (GRCm39) |
L313F |
probably damaging |
Het |
Smdt1 |
T |
C |
15: 82,230,433 (GRCm39) |
V50A |
probably benign |
Het |
Spata31e2 |
T |
G |
1: 26,724,961 (GRCm39) |
K73T |
possibly damaging |
Het |
Supt3 |
G |
A |
17: 45,347,607 (GRCm39) |
A197T |
probably benign |
Het |
Tex10 |
A |
G |
4: 48,436,492 (GRCm39) |
I742T |
possibly damaging |
Het |
Tex44 |
T |
A |
1: 86,355,640 (GRCm39) |
H516Q |
possibly damaging |
Het |
Tfdp1 |
T |
G |
8: 13,420,917 (GRCm39) |
D171E |
probably damaging |
Het |
Trim31 |
A |
C |
17: 37,209,568 (GRCm39) |
D108A |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,791,579 (GRCm39) |
N135S |
probably benign |
Het |
Uso1 |
G |
A |
5: 92,328,422 (GRCm39) |
V340I |
possibly damaging |
Het |
Utp6 |
A |
C |
11: 79,839,749 (GRCm39) |
V313G |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,595,109 (GRCm39) |
V554A |
possibly damaging |
Het |
Xdh |
C |
A |
17: 74,221,014 (GRCm39) |
E572* |
probably null |
Het |
Zbtb7c |
T |
C |
18: 76,270,061 (GRCm39) |
S50P |
probably damaging |
Het |
Zfp672 |
A |
G |
11: 58,220,395 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,791,635 (GRCm39) |
|
probably null |
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 |
IGL01559:Pi4kb
|
APN |
3 |
94,891,440 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACTGCTGATGAAGGTTGGAAC -3'
(R):5'- CTCCTGCTGTAAGAGGAGCTTGAAC -3'
Sequencing Primer
(F):5'- AGGTAGTGGCAAATGCTCTCTC -3'
(R):5'- CTGTAAGAGGAGCTTGAACCTATTC -3'
|
Posted On |
2014-03-28 |