Incidental Mutation 'R4502:Pi4kb'
| ID |
331841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4kb
|
| Ensembl Gene |
ENSMUSG00000038861 |
| Gene Name |
phosphatidylinositol 4-kinase beta |
| Synonyms |
Pik4cb, ESTM41 |
| MMRRC Submission |
041754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R4502 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94882042-94914154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94903918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 501
(H501Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000133297]
[ENSMUST00000138209]
[ENSMUST00000167008]
|
| AlphaFold |
Q8BKC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072287
AA Change: H501Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: H501Q
| 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: H516Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: H516Q
| 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: H528Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: H528Q
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167008
AA Change: H184Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861
AA Change: H184Q
| Domain | Start | End | E-Value | Type |
|---|
|
PI3Kc
|
228 |
482 |
6.47e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141787
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
A |
C |
3: 20,369,962 (GRCm39) |
Y215D |
probably damaging |
Het |
| Arf5 |
T |
C |
6: 28,425,775 (GRCm39) |
V123A |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,407,246 (GRCm39) |
V1164A |
possibly damaging |
Het |
| Atp6v0d1 |
A |
G |
8: 106,292,430 (GRCm39) |
C39R |
probably damaging |
Het |
| Bmp8a |
T |
A |
4: 123,236,192 (GRCm39) |
S104C |
probably damaging |
Het |
| Cand1 |
T |
C |
10: 119,052,572 (GRCm39) |
T185A |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,560 (GRCm39) |
E1284G |
probably damaging |
Het |
| Chodl |
A |
G |
16: 78,728,332 (GRCm39) |
S26G |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,987,892 (GRCm39) |
P620S |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,387,837 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
G |
T |
3: 118,591,186 (GRCm39) |
G225C |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,286,772 (GRCm39) |
V5560M |
probably damaging |
Het |
| Eea1 |
G |
A |
10: 95,875,427 (GRCm39) |
E1233K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,245,740 (GRCm39) |
D1139G |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hc |
T |
C |
2: 34,896,264 (GRCm39) |
D1173G |
probably benign |
Het |
| Htr2a |
T |
A |
14: 74,879,428 (GRCm39) |
M19K |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,665,335 (GRCm39) |
S653L |
possibly damaging |
Het |
| Kcnt2 |
G |
T |
1: 140,435,485 (GRCm39) |
C484F |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,282 (GRCm39) |
S158P |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,826,749 (GRCm39) |
D62G |
probably damaging |
Het |
| Ldhb |
T |
C |
6: 142,436,183 (GRCm39) |
K329E |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,916 (GRCm39) |
I185N |
probably damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,539 (GRCm39) |
I15V |
probably benign |
Het |
| Or6aa1 |
T |
A |
7: 86,044,485 (GRCm39) |
T74S |
possibly damaging |
Het |
| Ppargc1b |
T |
C |
18: 61,435,750 (GRCm39) |
K910R |
probably benign |
Het |
| Ppp1r12a |
G |
T |
10: 108,085,339 (GRCm39) |
R428I |
probably benign |
Het |
| Rbbp8nl |
G |
T |
2: 179,920,989 (GRCm39) |
T465N |
possibly damaging |
Het |
| Rpl5 |
T |
C |
5: 108,052,723 (GRCm39) |
F223S |
possibly damaging |
Het |
| Scpep1 |
T |
C |
11: 88,835,211 (GRCm39) |
K154R |
probably benign |
Het |
| Sil1 |
T |
C |
18: 35,450,928 (GRCm39) |
Y249C |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,067,964 (GRCm39) |
L1017Q |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,556,154 (GRCm39) |
N264S |
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,539,787 (GRCm39) |
M345V |
probably benign |
Het |
| Tdrd5 |
T |
A |
1: 156,128,334 (GRCm39) |
M141L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,960,259 (GRCm39) |
C182R |
probably damaging |
Het |
| Thap4 |
T |
C |
1: 93,678,709 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,991 (GRCm39) |
R973* |
probably null |
Het |
| Ulk3 |
A |
G |
9: 57,500,512 (GRCm39) |
Y307C |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,912,284 (GRCm39) |
L1001P |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 78,984,764 (GRCm39) |
T39S |
probably benign |
Het |
| Vps33b |
G |
A |
7: 79,937,655 (GRCm39) |
A468T |
possibly damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,363 (GRCm39) |
S130P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,655,079 (GRCm39) |
E730G |
probably benign |
Het |
| Zfp689 |
C |
A |
7: 127,047,925 (GRCm39) |
V36L |
probably benign |
Het |
| Zfp938 |
A |
G |
10: 82,062,105 (GRCm39) |
S172P |
possibly 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 |
|
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 |
|
|
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 |
|
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'- TGAAGAATACAAGGCTCTCTGC -3'
(R):5'- AGGAAGCCTGATGAGTGTTTAG -3'
Sequencing Primer
(F):5'- CAAGGCTCTCTGCATTTTAACATG -3'
(R):5'- AAGCCTGATGAGTGTTTAGATGTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation