Incidental Mutation 'R5625:Pi4kb'
ID |
441777 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pi4kb
|
Ensembl Gene |
ENSMUSG00000038861 |
Gene Name |
phosphatidylinositol 4-kinase beta |
Synonyms |
Pik4cb, ESTM41 |
MMRRC Submission |
043164-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R5625 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
94882042-94914154 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94891988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 223
(M223V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000138209]
[ENSMUST00000167008]
|
AlphaFold |
Q8BKC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072287
AA Change: M223V
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000072134 Gene: ENSMUSG00000038861 AA Change: M223V
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: M223V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102872 Gene: ENSMUSG00000038861 AA Change: M223V
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: M235V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000121965 Gene: ENSMUSG00000038861 AA Change: M235V
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 |
|
Meta Mutation Damage Score |
0.0698 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
G |
9: 44,189,333 (GRCm39) |
D388A |
probably benign |
Het |
Ampd3 |
A |
C |
7: 110,401,730 (GRCm39) |
E408A |
probably damaging |
Het |
Bmp1 |
G |
T |
14: 70,723,606 (GRCm39) |
N743K |
probably benign |
Het |
Brsk1 |
A |
G |
7: 4,709,399 (GRCm39) |
K398E |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,101,888 (GRCm39) |
M11K |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,252,187 (GRCm39) |
M394R |
probably damaging |
Het |
Cfap44 |
G |
T |
16: 44,280,710 (GRCm39) |
|
probably null |
Het |
Col13a1 |
C |
T |
10: 61,679,388 (GRCm39) |
G713R |
unknown |
Het |
Cxcr2 |
A |
T |
1: 74,197,991 (GRCm39) |
K162* |
probably null |
Het |
Cyp3a44 |
C |
T |
5: 145,716,376 (GRCm39) |
D405N |
possibly damaging |
Het |
Exo1 |
G |
T |
1: 175,721,380 (GRCm39) |
D340Y |
possibly damaging |
Het |
Farp2 |
T |
G |
1: 93,456,470 (GRCm39) |
L51R |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,943,083 (GRCm39) |
I659F |
possibly damaging |
Het |
Gbp2b |
T |
A |
3: 142,304,806 (GRCm39) |
W81R |
probably damaging |
Het |
Gipc2 |
C |
T |
3: 151,871,541 (GRCm39) |
|
probably benign |
Het |
Gm10941 |
G |
T |
10: 77,094,670 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
A |
T |
7: 38,823,229 (GRCm39) |
|
noncoding transcript |
Het |
Hapln3 |
G |
T |
7: 78,767,006 (GRCm39) |
|
probably null |
Het |
Ifi213 |
A |
G |
1: 173,396,629 (GRCm39) |
S482P |
possibly damaging |
Het |
Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
Lrrn1 |
T |
A |
6: 107,544,315 (GRCm39) |
C38S |
probably damaging |
Het |
Mycbpap |
T |
C |
11: 94,396,519 (GRCm39) |
E107G |
probably damaging |
Het |
Neb |
A |
T |
2: 52,067,547 (GRCm39) |
L5848* |
probably null |
Het |
Nrg3 |
A |
T |
14: 38,092,950 (GRCm39) |
M545K |
probably damaging |
Het |
Nudt3 |
A |
G |
17: 27,802,202 (GRCm39) |
L28P |
probably damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,099 (GRCm39) |
M308L |
probably benign |
Het |
Otop1 |
A |
T |
5: 38,460,104 (GRCm39) |
Y557F |
probably damaging |
Het |
Pcare |
T |
A |
17: 72,058,321 (GRCm39) |
D452V |
probably damaging |
Het |
Pdgfra |
G |
A |
5: 75,349,998 (GRCm39) |
|
probably null |
Het |
Piezo1 |
T |
C |
8: 123,209,699 (GRCm39) |
T2335A |
probably benign |
Het |
Ppp6c |
A |
G |
2: 39,087,453 (GRCm39) |
V251A |
probably benign |
Het |
Prkg1 |
C |
T |
19: 31,742,162 (GRCm39) |
E21K |
possibly damaging |
Het |
Ptpru |
T |
C |
4: 131,530,691 (GRCm39) |
E521G |
probably null |
Het |
Rasl10b |
G |
T |
11: 83,309,640 (GRCm39) |
R199L |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,496,203 (GRCm39) |
R111C |
probably damaging |
Het |
Sec23ip |
G |
T |
7: 128,346,707 (GRCm39) |
|
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,910,273 (GRCm39) |
|
noncoding transcript |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
C |
12: 76,141,886 (GRCm39) |
S6141P |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tex46 |
T |
C |
4: 136,337,925 (GRCm39) |
F39S |
probably damaging |
Het |
Tmem50a |
AACCA |
AA |
4: 134,625,778 (GRCm39) |
|
probably benign |
Het |
Tmem62 |
G |
T |
2: 120,820,874 (GRCm39) |
W180L |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,904,185 (GRCm39) |
A1232T |
probably benign |
Het |
Tubgcp3 |
T |
C |
8: 12,674,888 (GRCm39) |
H744R |
possibly damaging |
Het |
Uggt2 |
A |
G |
14: 119,315,136 (GRCm39) |
I311T |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,584,197 (GRCm39) |
R469C |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,382,281 (GRCm39) |
L278S |
probably damaging |
Het |
Vmn2r129 |
A |
T |
4: 156,686,505 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,420,766 (GRCm39) |
T376A |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,077 (GRCm39) |
A188V |
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 |
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 |
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'- GGAGTGCAAGCCTACATTGG -3'
(R):5'- TGCTGCTGAGACTTATGCTG -3'
Sequencing Primer
(F):5'- TACATTGGCAACCGGCTC -3'
(R):5'- TGGCCGTAGCATCTGACTTAGAAC -3'
|
Posted On |
2016-11-08 |