Incidental Mutation 'IGL02649:Dennd2a'
ID |
302078 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dennd2a
|
Ensembl Gene |
ENSMUSG00000038456 |
Gene Name |
DENN domain containing 2A |
Synonyms |
B930096L08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL02649
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
39439312-39534801 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39447290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 776
(H776L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036877]
|
AlphaFold |
Q8C4S8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036877
AA Change: H776L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000045367 Gene: ENSMUSG00000038456 AA Change: H776L
Domain | Start | End | E-Value | Type |
Blast:DENN
|
9 |
430 |
1e-149 |
BLAST |
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
low complexity region
|
508 |
520 |
N/A |
INTRINSIC |
uDENN
|
554 |
646 |
2.06e-31 |
SMART |
DENN
|
653 |
837 |
7.1e-76 |
SMART |
dDENN
|
888 |
953 |
1.84e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145541
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149162
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
A |
T |
11: 116,486,472 (GRCm39) |
I4F |
probably benign |
Het |
Adamts17 |
T |
G |
7: 66,499,626 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
A |
T |
11: 7,117,156 (GRCm39) |
M1008L |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atrnl1 |
T |
G |
19: 57,638,873 (GRCm39) |
|
probably benign |
Het |
Brd3 |
T |
A |
2: 27,344,362 (GRCm39) |
E456V |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,573,252 (GRCm39) |
L712H |
probably damaging |
Het |
Ccna1 |
T |
A |
3: 54,961,807 (GRCm39) |
T38S |
probably damaging |
Het |
Chadl |
T |
A |
15: 81,580,059 (GRCm39) |
I59F |
probably benign |
Het |
Chmp3 |
T |
C |
6: 71,529,417 (GRCm39) |
M27T |
possibly damaging |
Het |
Clcn1 |
C |
T |
6: 42,275,763 (GRCm39) |
T295I |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,604,369 (GRCm39) |
|
probably null |
Het |
Dimt1 |
G |
A |
13: 107,085,219 (GRCm39) |
R55K |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,196,319 (GRCm39) |
D1626V |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,487,465 (GRCm39) |
S3487P |
possibly damaging |
Het |
Hivep1 |
T |
C |
13: 42,310,787 (GRCm39) |
V1009A |
possibly damaging |
Het |
Ifna12 |
A |
T |
4: 88,521,091 (GRCm39) |
V152E |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,930,974 (GRCm39) |
C903S |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,313,672 (GRCm39) |
D1002G |
possibly damaging |
Het |
Isyna1 |
T |
C |
8: 71,048,904 (GRCm39) |
S328P |
probably damaging |
Het |
Itprid2 |
T |
C |
2: 79,472,303 (GRCm39) |
|
probably benign |
Het |
Lamc1 |
G |
A |
1: 153,122,788 (GRCm39) |
T764I |
possibly damaging |
Het |
Lta4h |
T |
C |
10: 93,308,831 (GRCm39) |
V377A |
probably benign |
Het |
Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,328,418 (GRCm39) |
L329F |
probably benign |
Het |
Nlgn2 |
T |
C |
11: 69,716,628 (GRCm39) |
T638A |
probably benign |
Het |
Oasl2 |
A |
G |
5: 115,035,753 (GRCm39) |
T10A |
probably damaging |
Het |
Or14j8 |
A |
T |
17: 38,263,864 (GRCm39) |
F17Y |
probably damaging |
Het |
Or5k1 |
T |
A |
16: 58,617,713 (GRCm39) |
R165S |
probably damaging |
Het |
Pde10a |
A |
T |
17: 9,172,604 (GRCm39) |
N296I |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,519,912 (GRCm39) |
I1385M |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,141,378 (GRCm39) |
V647A |
probably damaging |
Het |
Pnp |
T |
C |
14: 51,185,303 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
T |
16: 4,905,327 (GRCm39) |
I1656K |
probably damaging |
Het |
Rimbp3 |
G |
T |
16: 17,027,472 (GRCm39) |
E299* |
probably null |
Het |
Sbsn |
C |
A |
7: 30,452,683 (GRCm39) |
A566D |
probably damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,816,225 (GRCm39) |
M494K |
probably damaging |
Het |
Slc2a2 |
T |
A |
3: 28,772,885 (GRCm39) |
V226E |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,617,986 (GRCm39) |
I339N |
possibly damaging |
Het |
Tenm2 |
G |
T |
11: 36,097,912 (GRCm39) |
S445R |
possibly damaging |
Het |
Tlcd5 |
C |
A |
9: 43,022,783 (GRCm39) |
K190N |
probably benign |
Het |
Tnip2 |
A |
T |
5: 34,671,075 (GRCm39) |
L56Q |
probably damaging |
Het |
Trpv1 |
C |
T |
11: 73,141,612 (GRCm39) |
S485F |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,681,437 (GRCm39) |
M115T |
probably benign |
Het |
Zbtb38 |
G |
A |
9: 96,568,672 (GRCm39) |
T804I |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,520,167 (GRCm39) |
S430P |
possibly damaging |
Het |
|
Other mutations in Dennd2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01385:Dennd2a
|
APN |
6 |
39,500,070 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01482:Dennd2a
|
APN |
6 |
39,457,243 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02135:Dennd2a
|
APN |
6 |
39,457,205 (GRCm39) |
nonsense |
probably null |
|
IGL02206:Dennd2a
|
APN |
6 |
39,500,383 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03057:Dennd2a
|
APN |
6 |
39,485,182 (GRCm39) |
missense |
probably damaging |
0.98 |
R0310:Dennd2a
|
UTSW |
6 |
39,441,135 (GRCm39) |
splice site |
probably benign |
|
R0326:Dennd2a
|
UTSW |
6 |
39,474,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R0360:Dennd2a
|
UTSW |
6 |
39,485,233 (GRCm39) |
missense |
probably benign |
0.13 |
R0364:Dennd2a
|
UTSW |
6 |
39,485,233 (GRCm39) |
missense |
probably benign |
0.13 |
R0394:Dennd2a
|
UTSW |
6 |
39,499,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0680:Dennd2a
|
UTSW |
6 |
39,459,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R1741:Dennd2a
|
UTSW |
6 |
39,470,091 (GRCm39) |
missense |
probably damaging |
0.99 |
R1744:Dennd2a
|
UTSW |
6 |
39,457,185 (GRCm39) |
missense |
probably benign |
0.26 |
R2070:Dennd2a
|
UTSW |
6 |
39,442,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R3833:Dennd2a
|
UTSW |
6 |
39,483,657 (GRCm39) |
missense |
probably damaging |
0.98 |
R3833:Dennd2a
|
UTSW |
6 |
39,483,651 (GRCm39) |
missense |
probably damaging |
0.97 |
R4120:Dennd2a
|
UTSW |
6 |
39,442,030 (GRCm39) |
missense |
probably damaging |
0.99 |
R4583:Dennd2a
|
UTSW |
6 |
39,499,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R4842:Dennd2a
|
UTSW |
6 |
39,474,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4887:Dennd2a
|
UTSW |
6 |
39,474,093 (GRCm39) |
missense |
probably benign |
0.03 |
R4901:Dennd2a
|
UTSW |
6 |
39,499,621 (GRCm39) |
missense |
probably benign |
0.00 |
R5065:Dennd2a
|
UTSW |
6 |
39,472,110 (GRCm39) |
critical splice donor site |
probably null |
|
R5413:Dennd2a
|
UTSW |
6 |
39,441,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Dennd2a
|
UTSW |
6 |
39,462,554 (GRCm39) |
missense |
probably benign |
0.14 |
R6239:Dennd2a
|
UTSW |
6 |
39,465,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R6360:Dennd2a
|
UTSW |
6 |
39,470,076 (GRCm39) |
missense |
probably benign |
0.01 |
R7115:Dennd2a
|
UTSW |
6 |
39,483,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Dennd2a
|
UTSW |
6 |
39,500,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R7567:Dennd2a
|
UTSW |
6 |
39,499,743 (GRCm39) |
missense |
probably benign |
|
R7587:Dennd2a
|
UTSW |
6 |
39,460,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R7662:Dennd2a
|
UTSW |
6 |
39,470,037 (GRCm39) |
missense |
probably benign |
0.03 |
R7781:Dennd2a
|
UTSW |
6 |
39,470,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R7962:Dennd2a
|
UTSW |
6 |
39,457,207 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8683:Dennd2a
|
UTSW |
6 |
39,500,137 (GRCm39) |
nonsense |
probably null |
|
R8961:Dennd2a
|
UTSW |
6 |
39,462,555 (GRCm39) |
missense |
probably damaging |
0.96 |
R9424:Dennd2a
|
UTSW |
6 |
39,485,294 (GRCm39) |
nonsense |
probably null |
|
R9765:Dennd2a
|
UTSW |
6 |
39,473,907 (GRCm39) |
critical splice donor site |
probably null |
|
R9767:Dennd2a
|
UTSW |
6 |
39,483,709 (GRCm39) |
missense |
probably damaging |
0.98 |
X0026:Dennd2a
|
UTSW |
6 |
39,485,301 (GRCm39) |
missense |
possibly damaging |
0.61 |
Z1177:Dennd2a
|
UTSW |
6 |
39,500,408 (GRCm39) |
missense |
probably benign |
0.38 |
|
Posted On |
2015-04-16 |