Incidental Mutation 'IGL01636:Pik3cd'
ID |
93005 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pik3cd
|
Ensembl Gene |
ENSMUSG00000039936 |
Gene Name |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
Synonyms |
2610208K16Rik, 2410099E07Rik, p110delta |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
IGL01636
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
149733625-149787023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 149738772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 715
(M715T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101313
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000177654]
|
AlphaFold |
O35904 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038859
AA Change: M715T
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036434 Gene: ENSMUSG00000039936 AA Change: M715T
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
685 |
8.56e-87 |
SMART |
PI3Kc
|
776 |
1042 |
5.65e-128 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105688
AA Change: M715T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101313 Gene: ENSMUSG00000039936 AA Change: M715T
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
685 |
8.56e-87 |
SMART |
PI3Kc
|
775 |
1041 |
5.65e-128 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105689
AA Change: M714T
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101314 Gene: ENSMUSG00000039936 AA Change: M714T
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
684 |
1.35e-84 |
SMART |
PI3Kc
|
774 |
1040 |
5.65e-128 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105690
AA Change: M718T
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101315 Gene: ENSMUSG00000039936 AA Change: M718T
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
688 |
1.22e-82 |
SMART |
PI3Kc
|
778 |
1044 |
5.65e-128 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118704
AA Change: M717T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112863 Gene: ENSMUSG00000039936 AA Change: M717T
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
687 |
1.8e-80 |
SMART |
PI3Kc
|
777 |
1043 |
5.65e-128 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122059
AA Change: M711T
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113844 Gene: ENSMUSG00000039936 AA Change: M711T
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
408 |
6.47e-23 |
SMART |
PI3Ka
|
492 |
681 |
8.56e-87 |
SMART |
PI3Kc
|
771 |
1037 |
5.65e-128 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177654
AA Change: M718T
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136045 Gene: ENSMUSG00000039936 AA Change: M718T
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
688 |
1.22e-82 |
SMART |
PI3Kc
|
778 |
1044 |
5.65e-128 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185093
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010] PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired B and T cell antigen receptor signaling, reduced or ablated immune responses and decreased immunoglobulin levels. Mutants also develop inflammatory bowel disease. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
Adgrd1 |
G |
T |
5: 129,219,516 (GRCm39) |
|
probably benign |
Het |
Bmp7 |
T |
C |
2: 172,717,001 (GRCm39) |
|
probably benign |
Het |
Ccdc54 |
A |
G |
16: 50,410,277 (GRCm39) |
*330Q |
probably null |
Het |
Chd5 |
A |
T |
4: 152,469,110 (GRCm39) |
K1812* |
probably null |
Het |
Cnga3 |
T |
A |
1: 37,299,874 (GRCm39) |
I236N |
possibly damaging |
Het |
Ddost |
T |
G |
4: 138,036,707 (GRCm39) |
D135E |
possibly damaging |
Het |
Dicer1 |
T |
C |
12: 104,688,500 (GRCm39) |
D359G |
probably damaging |
Het |
Dnah17 |
A |
C |
11: 117,931,882 (GRCm39) |
S3697A |
probably benign |
Het |
Dnttip2 |
G |
A |
3: 122,076,123 (GRCm39) |
G685D |
possibly damaging |
Het |
Dst |
T |
G |
1: 34,254,650 (GRCm39) |
S4552R |
probably damaging |
Het |
Ebf2 |
G |
A |
14: 67,476,927 (GRCm39) |
E157K |
probably damaging |
Het |
Ehbp1 |
C |
T |
11: 22,039,584 (GRCm39) |
V839M |
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,729,620 (GRCm39) |
T639K |
probably damaging |
Het |
Esyt2 |
T |
C |
12: 116,329,550 (GRCm39) |
|
probably null |
Het |
Etv6 |
T |
C |
6: 134,225,350 (GRCm39) |
S194P |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,741,637 (GRCm39) |
H198R |
probably benign |
Het |
Fam210b |
T |
C |
2: 172,193,460 (GRCm39) |
F91S |
probably damaging |
Het |
Fam81a |
G |
A |
9: 70,006,434 (GRCm39) |
Q193* |
probably null |
Het |
Fto |
A |
G |
8: 92,135,969 (GRCm39) |
D79G |
probably damaging |
Het |
Haspin |
C |
T |
11: 73,028,231 (GRCm39) |
R286H |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,455,984 (GRCm39) |
C5312Y |
probably damaging |
Het |
Ik |
T |
A |
18: 36,884,254 (GRCm39) |
D245E |
possibly damaging |
Het |
Itga1 |
A |
G |
13: 115,143,484 (GRCm39) |
V349A |
possibly damaging |
Het |
Kdm8 |
T |
C |
7: 125,060,377 (GRCm39) |
V400A |
probably damaging |
Het |
Larp1b |
G |
T |
3: 40,924,913 (GRCm39) |
R177L |
probably benign |
Het |
Lifr |
T |
G |
15: 7,208,499 (GRCm39) |
|
probably benign |
Het |
Lrrn2 |
T |
C |
1: 132,864,959 (GRCm39) |
L8P |
possibly damaging |
Het |
Marcksl1 |
T |
A |
4: 129,408,587 (GRCm39) |
D55E |
probably benign |
Het |
Med12 |
C |
A |
X: 100,318,795 (GRCm39) |
S74R |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,564,838 (GRCm39) |
K231E |
probably benign |
Het |
Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
Or6c35 |
A |
T |
10: 129,168,752 (GRCm39) |
M1L |
probably damaging |
Het |
Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
Or8k39 |
G |
A |
2: 86,563,945 (GRCm39) |
Q4* |
probably null |
Het |
Orc3 |
A |
C |
4: 34,595,096 (GRCm39) |
L233R |
probably damaging |
Het |
Prss43 |
T |
A |
9: 110,656,505 (GRCm39) |
L64Q |
possibly damaging |
Het |
Pyroxd2 |
C |
A |
19: 42,726,771 (GRCm39) |
G209V |
probably benign |
Het |
Rab3b |
A |
G |
4: 108,797,916 (GRCm39) |
D198G |
possibly damaging |
Het |
Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
Smg6 |
T |
C |
11: 74,825,929 (GRCm39) |
|
probably null |
Het |
Ssrp1 |
T |
C |
2: 84,871,443 (GRCm39) |
|
probably benign |
Het |
Strip2 |
C |
A |
6: 29,931,192 (GRCm39) |
T381K |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,116,622 (GRCm39) |
L876Q |
possibly damaging |
Het |
Tle4 |
T |
C |
19: 14,429,897 (GRCm39) |
I625V |
probably damaging |
Het |
Tnfrsf23 |
T |
C |
7: 143,233,736 (GRCm39) |
T81A |
probably damaging |
Het |
Ttc41 |
A |
G |
10: 86,612,542 (GRCm39) |
K1272E |
probably benign |
Het |
Usp3 |
A |
G |
9: 66,469,834 (GRCm39) |
|
probably null |
Het |
Vmn1r121 |
C |
T |
7: 20,832,282 (GRCm39) |
V53M |
probably benign |
Het |
Vmn1r65 |
A |
T |
7: 6,011,720 (GRCm39) |
S171R |
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,313,657 (GRCm39) |
D441E |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,801,618 (GRCm39) |
H2353Q |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,435,794 (GRCm39) |
S1835P |
possibly damaging |
Het |
|
Other mutations in Pik3cd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Pik3cd
|
APN |
4 |
149,741,917 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01536:Pik3cd
|
APN |
4 |
149,737,123 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02794:Pik3cd
|
APN |
4 |
149,739,028 (GRCm39) |
missense |
probably benign |
|
grand_tetons
|
UTSW |
4 |
149,737,156 (GRCm39) |
missense |
probably damaging |
1.00 |
Helena
|
UTSW |
4 |
149,736,277 (GRCm39) |
missense |
probably damaging |
1.00 |
stinger
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Pik3cd
|
UTSW |
4 |
149,740,836 (GRCm39) |
critical splice donor site |
probably null |
|
R0309:Pik3cd
|
UTSW |
4 |
149,747,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R1246:Pik3cd
|
UTSW |
4 |
149,744,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R1259:Pik3cd
|
UTSW |
4 |
149,735,105 (GRCm39) |
nonsense |
probably null |
|
R1533:Pik3cd
|
UTSW |
4 |
149,739,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Pik3cd
|
UTSW |
4 |
149,743,207 (GRCm39) |
missense |
probably benign |
0.02 |
R1796:Pik3cd
|
UTSW |
4 |
149,738,576 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1887:Pik3cd
|
UTSW |
4 |
149,737,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1988:Pik3cd
|
UTSW |
4 |
149,747,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R2089:Pik3cd
|
UTSW |
4 |
149,737,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:Pik3cd
|
UTSW |
4 |
149,737,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Pik3cd
|
UTSW |
4 |
149,743,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Pik3cd
|
UTSW |
4 |
149,743,588 (GRCm39) |
missense |
probably damaging |
0.98 |
R5603:Pik3cd
|
UTSW |
4 |
149,743,312 (GRCm39) |
missense |
probably benign |
|
R6282:Pik3cd
|
UTSW |
4 |
149,744,200 (GRCm39) |
missense |
probably benign |
0.00 |
R6453:Pik3cd
|
UTSW |
4 |
149,736,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Pik3cd
|
UTSW |
4 |
149,744,171 (GRCm39) |
missense |
probably benign |
0.08 |
R7423:Pik3cd
|
UTSW |
4 |
149,736,220 (GRCm39) |
critical splice donor site |
probably null |
|
R7508:Pik3cd
|
UTSW |
4 |
149,739,040 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7665:Pik3cd
|
UTSW |
4 |
149,738,507 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7897:Pik3cd
|
UTSW |
4 |
149,741,726 (GRCm39) |
missense |
probably benign |
0.06 |
R8039:Pik3cd
|
UTSW |
4 |
149,744,323 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8476:Pik3cd
|
UTSW |
4 |
149,736,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R9015:Pik3cd
|
UTSW |
4 |
149,740,055 (GRCm39) |
missense |
probably benign |
0.06 |
R9252:Pik3cd
|
UTSW |
4 |
149,740,087 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9704:Pik3cd
|
UTSW |
4 |
149,739,839 (GRCm39) |
missense |
probably benign |
0.17 |
V7580:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
V7581:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
V7582:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
V7583:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Pik3cd
|
UTSW |
4 |
149,744,491 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Pik3cd
|
UTSW |
4 |
149,739,304 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2013-12-09 |