Incidental Mutation 'IGL01897:Pkdcc'
ID |
179437 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pkdcc
|
Ensembl Gene |
ENSMUSG00000024247 |
Gene Name |
protein kinase domain containing, cytoplasmic |
Synonyms |
MAd1, ESTM17, Vlk, Adtk1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01897
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
83522721-83532499 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83527548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 242
(I242N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170794]
|
AlphaFold |
Q5RJI4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166528
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168118
|
Predicted Effect |
unknown
Transcript: ENSMUST00000170758
AA Change: I6N
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170794
AA Change: I242N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129238 Gene: ENSMUSG00000024247 AA Change: I242N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
28 |
55 |
N/A |
INTRINSIC |
low complexity region
|
72 |
86 |
N/A |
INTRINSIC |
low complexity region
|
92 |
128 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
139 |
321 |
1.3e-5 |
PFAM |
Pfam:PIP49_C
|
196 |
373 |
3.8e-11 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
A |
G |
1: 125,346,025 (GRCm39) |
Y21H |
possibly damaging |
Het |
Adamts15 |
A |
T |
9: 30,813,448 (GRCm39) |
S906T |
probably damaging |
Het |
Brat1 |
A |
G |
5: 140,703,670 (GRCm39) |
D641G |
probably benign |
Het |
Ccdc42 |
G |
A |
11: 68,485,101 (GRCm39) |
R205H |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,829,986 (GRCm39) |
|
probably null |
Het |
Cfi |
T |
C |
3: 129,652,034 (GRCm39) |
V235A |
probably damaging |
Het |
Ctps1 |
T |
A |
4: 120,424,476 (GRCm39) |
D46V |
probably damaging |
Het |
Cyb5d1 |
A |
T |
11: 69,284,587 (GRCm39) |
D188E |
probably benign |
Het |
Cyp19a1 |
G |
T |
9: 54,075,813 (GRCm39) |
T414N |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,792,217 (GRCm39) |
C242* |
probably null |
Het |
Eif3b |
A |
T |
5: 140,411,202 (GRCm39) |
T218S |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Heyl |
A |
T |
4: 123,140,400 (GRCm39) |
I320F |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,236 (GRCm39) |
V1618E |
probably damaging |
Het |
Kif7 |
A |
T |
7: 79,350,800 (GRCm39) |
I1007N |
probably damaging |
Het |
Lat2 |
A |
G |
5: 134,635,481 (GRCm39) |
|
probably benign |
Het |
Lipm |
A |
T |
19: 34,098,708 (GRCm39) |
D394V |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,782,977 (GRCm39) |
I307K |
possibly damaging |
Het |
Mief1 |
T |
C |
15: 80,132,709 (GRCm39) |
|
probably benign |
Het |
Mta2 |
C |
T |
19: 8,925,130 (GRCm39) |
Q333* |
probably null |
Het |
Neb |
T |
A |
2: 52,170,587 (GRCm39) |
E1695V |
possibly damaging |
Het |
Npc1l1 |
A |
T |
11: 6,177,879 (GRCm39) |
N510K |
probably benign |
Het |
Or5af1 |
T |
C |
11: 58,722,465 (GRCm39) |
F162L |
probably damaging |
Het |
P2rx3 |
A |
C |
2: 84,853,825 (GRCm39) |
|
probably benign |
Het |
Pdgfc |
A |
G |
3: 81,111,639 (GRCm39) |
E198G |
possibly damaging |
Het |
Pkn3 |
C |
T |
2: 29,972,824 (GRCm39) |
|
probably benign |
Het |
Rcan2 |
T |
G |
17: 44,147,325 (GRCm39) |
D54E |
probably damaging |
Het |
Tmeff2 |
T |
A |
1: 51,171,369 (GRCm39) |
Y202N |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,453,309 (GRCm39) |
L1827P |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wfdc15a |
G |
T |
2: 164,041,896 (GRCm39) |
Q21K |
probably benign |
Het |
Zfp951 |
C |
A |
5: 104,963,149 (GRCm39) |
S139I |
probably benign |
Het |
|
Other mutations in Pkdcc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02517:Pkdcc
|
APN |
17 |
83,531,295 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4791001:Pkdcc
|
UTSW |
17 |
83,527,577 (GRCm39) |
nonsense |
probably null |
|
R0180:Pkdcc
|
UTSW |
17 |
83,529,299 (GRCm39) |
critical splice donor site |
probably null |
|
R0321:Pkdcc
|
UTSW |
17 |
83,529,541 (GRCm39) |
splice site |
probably benign |
|
R0559:Pkdcc
|
UTSW |
17 |
83,523,454 (GRCm39) |
missense |
probably benign |
0.00 |
R0799:Pkdcc
|
UTSW |
17 |
83,531,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R1512:Pkdcc
|
UTSW |
17 |
83,527,473 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2484:Pkdcc
|
UTSW |
17 |
83,529,667 (GRCm39) |
splice site |
probably benign |
|
R2916:Pkdcc
|
UTSW |
17 |
83,523,378 (GRCm39) |
missense |
probably benign |
0.00 |
R2918:Pkdcc
|
UTSW |
17 |
83,523,378 (GRCm39) |
missense |
probably benign |
0.00 |
R3120:Pkdcc
|
UTSW |
17 |
83,527,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R3794:Pkdcc
|
UTSW |
17 |
83,531,382 (GRCm39) |
missense |
probably damaging |
0.97 |
R3795:Pkdcc
|
UTSW |
17 |
83,531,382 (GRCm39) |
missense |
probably damaging |
0.97 |
R4433:Pkdcc
|
UTSW |
17 |
83,528,570 (GRCm39) |
missense |
probably benign |
0.02 |
R4689:Pkdcc
|
UTSW |
17 |
83,523,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Pkdcc
|
UTSW |
17 |
83,523,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Pkdcc
|
UTSW |
17 |
83,527,511 (GRCm39) |
missense |
probably damaging |
0.96 |
R5654:Pkdcc
|
UTSW |
17 |
83,523,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Pkdcc
|
UTSW |
17 |
83,523,223 (GRCm39) |
missense |
probably benign |
0.44 |
R6456:Pkdcc
|
UTSW |
17 |
83,527,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Pkdcc
|
UTSW |
17 |
83,531,687 (GRCm39) |
missense |
probably damaging |
0.97 |
R7050:Pkdcc
|
UTSW |
17 |
83,523,073 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8557:Pkdcc
|
UTSW |
17 |
83,528,495 (GRCm39) |
missense |
probably benign |
0.02 |
R8833:Pkdcc
|
UTSW |
17 |
83,531,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R9104:Pkdcc
|
UTSW |
17 |
83,528,471 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Pkdcc
|
UTSW |
17 |
83,529,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-05-07 |