Incidental Mutation 'IGL01536:Pik3cd'
| ID |
89967 |
| 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 |
2410099E07Rik, p110delta, 2610208K16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL01536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
149649168-149702571 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149652666 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 891
(V891A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000039144]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000105691]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000177654]
|
| AlphaFold |
O35904 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038859
AA Change: V889A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: V889A
| 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 |
probably benign
Transcript: ENSMUST00000039144
|
| SMART Domains |
Protein: ENSMUSP00000036962
Gene: ENSMUSG00000039953
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
162 |
1.25e-11 |
SMART |
|
CA
|
185 |
263 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
365 |
510 |
3.3e-9 |
PFAM |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
transmembrane domain
|
860 |
882 |
N/A |
INTRINSIC |
|
coiled coil region
|
915 |
949 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105688
AA Change: V888A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: V888A
| 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 |
probably damaging
Transcript: ENSMUST00000105689
AA Change: V887A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: V887A
| 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 |
probably damaging
Transcript: ENSMUST00000105690
AA Change: V891A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: V891A
| 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 |
probably benign
Transcript: ENSMUST00000105691
|
| SMART Domains |
Protein: ENSMUSP00000101316
Gene: ENSMUSG00000039953
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
152 |
2.91e-12 |
SMART |
|
CA
|
175 |
253 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
350 |
544 |
1.1e-12 |
PFAM |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
transmembrane domain
|
850 |
872 |
N/A |
INTRINSIC |
|
coiled coil region
|
905 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118704
AA Change: V890A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: V890A
| 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 damaging
Transcript: ENSMUST00000122059
AA Change: V884A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: V884A
| 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 |
probably damaging
Transcript: ENSMUST00000177654
AA Change: V891A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: V891A
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp5a1 |
T |
C |
18: 77,780,312 |
|
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,505 |
I81V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,531,411 |
D560G |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,079,423 |
Y826H |
probably damaging |
Het |
| Dtx2 |
A |
G |
5: 136,010,086 |
|
probably benign |
Het |
| Enpp4 |
T |
C |
17: 44,099,603 |
K361E |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,662,423 |
K294* |
probably null |
Het |
| Erbb4 |
T |
A |
1: 68,290,282 |
Y636F |
probably benign |
Het |
| Fads1 |
C |
A |
19: 10,194,030 |
Q342K |
probably benign |
Het |
| Fntb |
A |
T |
12: 76,920,130 |
T447S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,930,146 |
|
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,326,524 |
I463T |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,752,289 |
T726K |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,422,743 |
S275P |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,740,796 |
S425P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,110,883 |
I2224V |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,715,584 |
T173S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,763,966 |
Y2590H |
possibly damaging |
Het |
| Myo18a |
C |
T |
11: 77,820,851 |
P676L |
probably damaging |
Het |
| Olfr1023 |
T |
C |
2: 85,887,600 |
S267P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,474,993 |
M426T |
probably benign |
Het |
| Polr1b |
A |
G |
2: 129,125,555 |
N956S |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,444,591 |
M1V |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,200 |
S238T |
possibly damaging |
Het |
| Shc3 |
A |
C |
13: 51,516,559 |
S51A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,589,629 |
|
probably null |
Het |
| Smg5 |
A |
G |
3: 88,349,245 |
K273E |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,583,200 |
|
probably null |
Het |
| Sstr4 |
T |
C |
2: 148,395,880 |
L137P |
probably damaging |
Het |
| Taar8b |
C |
T |
10: 24,091,595 |
V234I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,260,992 |
Y860C |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,074,289 |
S399R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,919,648 |
|
probably benign |
Het |
| Trim10 |
T |
A |
17: 36,877,288 |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,732,351 |
|
probably null |
Het |
| Usp43 |
T |
C |
11: 67,855,938 |
D981G |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,463,281 |
C554S |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,605,155 |
Y464N |
probably damaging |
Het |
| Vmn2r31 |
T |
C |
7: 7,384,848 |
K575E |
probably damaging |
Het |
| Vmn2r50 |
C |
T |
7: 10,037,683 |
C697Y |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,720,719 |
|
probably null |
Het |
|
| Other mutations in Pik3cd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Pik3cd
|
APN |
4 |
149657460 |
missense |
probably damaging |
1.00 |
|
IGL01636:Pik3cd
|
APN |
4 |
149654315 |
missense |
possibly damaging |
0.82 |
|
IGL02794:Pik3cd
|
APN |
4 |
149654571 |
missense |
probably benign |
|
|
grand_tetons
|
UTSW |
4 |
149652699 |
missense |
probably damaging |
1.00 |
|
Helena
|
UTSW |
4 |
149651820 |
missense |
probably damaging |
1.00 |
|
stinger
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
F5770:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
R0003:Pik3cd
|
UTSW |
4 |
149656379 |
critical splice donor site |
probably null |
|
|
R0309:Pik3cd
|
UTSW |
4 |
149663220 |
missense |
probably damaging |
1.00 |
|
R1246:Pik3cd
|
UTSW |
4 |
149659800 |
missense |
probably damaging |
1.00 |
|
R1259:Pik3cd
|
UTSW |
4 |
149650648 |
nonsense |
probably null |
|
|
R1533:Pik3cd
|
UTSW |
4 |
149655196 |
missense |
probably damaging |
1.00 |
|
R1756:Pik3cd
|
UTSW |
4 |
149658750 |
missense |
probably benign |
0.02 |
|
R1796:Pik3cd
|
UTSW |
4 |
149654119 |
missense |
possibly damaging |
0.83 |
|
R1887:Pik3cd
|
UTSW |
4 |
149652634 |
missense |
probably damaging |
1.00 |
|
R1988:Pik3cd
|
UTSW |
4 |
149663203 |
missense |
probably damaging |
1.00 |
|
R2089:Pik3cd
|
UTSW |
4 |
149652699 |
missense |
probably damaging |
1.00 |
|
R2091:Pik3cd
|
UTSW |
4 |
149652699 |
missense |
probably damaging |
1.00 |
|
R4997:Pik3cd
|
UTSW |
4 |
149658984 |
missense |
probably damaging |
1.00 |
|
R5391:Pik3cd
|
UTSW |
4 |
149659131 |
missense |
probably damaging |
0.98 |
|
R5603:Pik3cd
|
UTSW |
4 |
149658855 |
missense |
probably benign |
|
|
R6282:Pik3cd
|
UTSW |
4 |
149659743 |
missense |
probably benign |
0.00 |
|
R6453:Pik3cd
|
UTSW |
4 |
149652302 |
missense |
probably damaging |
1.00 |
|
R7286:Pik3cd
|
UTSW |
4 |
149659714 |
missense |
probably benign |
0.08 |
|
R7423:Pik3cd
|
UTSW |
4 |
149651763 |
critical splice donor site |
probably null |
|
|
R7508:Pik3cd
|
UTSW |
4 |
149654583 |
missense |
possibly damaging |
0.78 |
|
R7665:Pik3cd
|
UTSW |
4 |
149654050 |
missense |
possibly damaging |
0.70 |
|
R7897:Pik3cd
|
UTSW |
4 |
149657269 |
missense |
probably benign |
0.06 |
|
R8039:Pik3cd
|
UTSW |
4 |
149659866 |
missense |
possibly damaging |
0.91 |
|
R8476:Pik3cd
|
UTSW |
4 |
149651820 |
missense |
probably damaging |
1.00 |
|
R9015:Pik3cd
|
UTSW |
4 |
149655598 |
missense |
probably benign |
0.06 |
|
R9252:Pik3cd
|
UTSW |
4 |
149655630 |
missense |
possibly damaging |
0.88 |
|
R9704:Pik3cd
|
UTSW |
4 |
149655382 |
missense |
probably benign |
0.17 |
|
V7580:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
V7581:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
V7582:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
V7583:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
X0023:Pik3cd
|
UTSW |
4 |
149660034 |
missense |
probably benign |
0.04 |
|
Z1176:Pik3cd
|
UTSW |
4 |
149654847 |
frame shift |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation