Incidental Mutation 'R5322:Pi4kb'
| ID |
404886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4kb
|
| Ensembl Gene |
ENSMUSG00000038861 |
| Gene Name |
phosphatidylinositol 4-kinase beta |
| Synonyms |
Pik4cb, ESTM41 |
| MMRRC Submission |
042905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R5322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94882042-94914154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94901560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 436
(R436Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121965
(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: R409Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: R409Q
| 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: R424Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: R424Q
| 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: R436Q
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: R436Q
| 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: R92Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167008
AA Change: R92Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861
AA Change: R92Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,855,159 (GRCm39) |
|
probably null |
Het |
| Ankar |
T |
C |
1: 72,729,545 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
| Appbp2 |
A |
G |
11: 85,086,890 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
C |
16: 18,215,508 (GRCm39) |
M176T |
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,809,319 (GRCm39) |
I268T |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,204,484 (GRCm39) |
S933P |
probably damaging |
Het |
| Cfi |
C |
T |
3: 129,666,689 (GRCm39) |
P471S |
probably damaging |
Het |
| Ckmt2 |
G |
T |
13: 92,009,891 (GRCm39) |
T143K |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,078 (GRCm39) |
D15E |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,468,029 (GRCm39) |
K680N |
probably benign |
Het |
| D2hgdh |
T |
C |
1: 93,757,620 (GRCm39) |
|
probably null |
Het |
| Dcn |
A |
T |
10: 97,353,464 (GRCm39) |
T338S |
probably benign |
Het |
| Dipk2a |
A |
G |
9: 94,402,615 (GRCm39) |
I349T |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,850,630 (GRCm39) |
G1644D |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,384,390 (GRCm39) |
I3045V |
probably benign |
Het |
| Dock3 |
G |
A |
9: 106,779,028 (GRCm39) |
T307I |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,007,715 (GRCm39) |
I1498N |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,081,557 (GRCm39) |
N62Y |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,521,950 (GRCm39) |
H295N |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,541 (GRCm39) |
Y129C |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,172,387 (GRCm39) |
D2139E |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,571 (GRCm39) |
F495I |
probably damaging |
Het |
| Gm43302 |
C |
T |
5: 105,365,347 (GRCm39) |
A554T |
probably benign |
Het |
| Gpr157 |
A |
G |
4: 150,183,309 (GRCm39) |
N160D |
probably benign |
Het |
| Il1rn |
G |
A |
2: 24,238,641 (GRCm39) |
|
probably null |
Het |
| Kctd13 |
T |
A |
7: 126,528,378 (GRCm39) |
L51Q |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,516,722 (GRCm39) |
F1561L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,190,608 (GRCm39) |
|
probably null |
Het |
| Mib1 |
A |
G |
18: 10,792,975 (GRCm39) |
H637R |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,120,151 (GRCm39) |
N93I |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,423,119 (GRCm39) |
|
probably null |
Het |
| Myot |
T |
C |
18: 44,487,216 (GRCm39) |
F351S |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,947,800 (GRCm39) |
N143K |
possibly damaging |
Het |
| Or10ac1 |
T |
C |
6: 42,515,950 (GRCm39) |
D2G |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,879 (GRCm39) |
I193V |
possibly damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,371 (GRCm39) |
V155I |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,502 (GRCm39) |
I213L |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,898,223 (GRCm39) |
R134* |
probably null |
Het |
| Paxbp1 |
T |
C |
16: 90,812,050 (GRCm39) |
I887V |
probably benign |
Het |
| Pla2g3 |
A |
G |
11: 3,438,686 (GRCm39) |
E112G |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,322 (GRCm39) |
|
probably null |
Het |
| Rela |
T |
A |
19: 5,695,408 (GRCm39) |
S311R |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,101,985 (GRCm39) |
|
probably benign |
Het |
| Smco2 |
T |
C |
6: 146,772,785 (GRCm39) |
L329P |
probably damaging |
Het |
| Speer4f1 |
A |
T |
5: 17,682,347 (GRCm39) |
I77F |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,402,298 (GRCm39) |
I462V |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,724,306 (GRCm39) |
R385W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,781,034 (GRCm39) |
V2974A |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,652,476 (GRCm39) |
T31I |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,616,481 (GRCm39) |
N247S |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,887,107 (GRCm39) |
M582R |
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 |
|
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 |
|
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 |
|
|
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'- GGCATGTACACCCTTTACCC -3'
(R):5'- GCTGTGCCCCTAGGATTATCTC -3'
Sequencing Primer
(F):5'- GATGGAATACAAGCTCCTACCTGTG -3'
(R):5'- GGATTATCTCCTTGGAGATCCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation