Incidental Mutation 'R2986:Dipk2a'
| ID |
257803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dipk2a
|
| Ensembl Gene |
ENSMUSG00000045414 |
| Gene Name |
divergent protein kinase domain 2A |
| Synonyms |
GoPro49, 1190002N15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R2986 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
94399917-94420134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94402570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 364
(C364F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113028]
|
| AlphaFold |
Q3USZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113028
AA Change: C364F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108651
Gene: ENSMUSG00000045414
AA Change: C364F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
Pfam:PIP49_C
|
206 |
405 |
2e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
T |
A |
17: 47,777,697 (GRCm39) |
C474* |
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,730,903 (GRCm39) |
T122A |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,248,478 (GRCm39) |
L75P |
probably damaging |
Het |
| Bltp3b |
T |
A |
10: 89,641,931 (GRCm39) |
V1034E |
probably benign |
Het |
| Cenpl |
C |
T |
1: 160,911,037 (GRCm39) |
|
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,511,453 (GRCm39) |
R227H |
possibly damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,677,690 (GRCm39) |
E141G |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,903,424 (GRCm39) |
C3024R |
probably damaging |
Het |
| Gss |
T |
C |
2: 155,429,363 (GRCm39) |
D43G |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,251,010 (GRCm39) |
D824V |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,727,221 (GRCm39) |
D116N |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,551,142 (GRCm39) |
D190G |
probably benign |
Het |
| Ttll11 |
G |
A |
2: 35,707,750 (GRCm39) |
S519L |
probably benign |
Het |
| Wdr49 |
T |
C |
3: 75,289,347 (GRCm39) |
M184V |
probably benign |
Het |
| Zfp384 |
T |
A |
6: 125,001,859 (GRCm39) |
V113E |
possibly damaging |
Het |
|
| Other mutations in Dipk2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01925:Dipk2a
|
APN |
9 |
94,402,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Dipk2a
|
UTSW |
9 |
94,406,533 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2109:Dipk2a
|
UTSW |
9 |
94,406,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4623:Dipk2a
|
UTSW |
9 |
94,402,451 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4677:Dipk2a
|
UTSW |
9 |
94,402,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Dipk2a
|
UTSW |
9 |
94,402,688 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4876:Dipk2a
|
UTSW |
9 |
94,419,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4994:Dipk2a
|
UTSW |
9 |
94,419,486 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5322:Dipk2a
|
UTSW |
9 |
94,402,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5425:Dipk2a
|
UTSW |
9 |
94,419,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Dipk2a
|
UTSW |
9 |
94,402,594 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6788:Dipk2a
|
UTSW |
9 |
94,406,502 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7390:Dipk2a
|
UTSW |
9 |
94,419,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Dipk2a
|
UTSW |
9 |
94,402,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCACATTGTGACTTAACTGTGC -3'
(R):5'- AATGGGATGCTCTGTATGAGAACG -3'
Sequencing Primer
(F):5'- GTGACTTAACTGTGCCAGATAGCC -3'
(R):5'- TGCTCTGTATGAGAACGTTAGGAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation