Incidental Mutation 'IGL02032:Dennd2d'
| ID |
184384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dennd2d
|
| Ensembl Gene |
ENSMUSG00000027901 |
| Gene Name |
DENN domain containing 2D |
| Synonyms |
2010308M01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL02032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106389745-106410346 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106398543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 176
(I176T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029508]
[ENSMUST00000149225]
[ENSMUST00000183271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029508
AA Change: I166T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: I166T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
uDENN
|
47 |
139 |
4.15e-27 |
SMART |
|
DENN
|
146 |
330 |
8.1e-71 |
SMART |
|
dDENN
|
368 |
435 |
3.38e-18 |
SMART |
|
low complexity region
|
447 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061206
AA Change: I169T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: I169T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
uDENN
|
50 |
142 |
4.15e-27 |
SMART |
|
DENN
|
149 |
333 |
8.1e-71 |
SMART |
|
dDENN
|
371 |
438 |
3.38e-18 |
SMART |
|
low complexity region
|
450 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149225
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183271
AA Change: I176T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: I176T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
uDENN
|
57 |
149 |
4.15e-27 |
SMART |
|
DENN
|
156 |
340 |
8.1e-71 |
SMART |
|
dDENN
|
378 |
445 |
3.38e-18 |
SMART |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195305
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,828,340 (GRCm39) |
I944F |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,622,796 (GRCm39) |
K614R |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,703,767 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
G |
A |
1: 139,702,284 (GRCm39) |
P67S |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,269,474 (GRCm39) |
Y1491F |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,996,326 (GRCm39) |
Y2670C |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,107,769 (GRCm39) |
H833L |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,038,651 (GRCm39) |
A463T |
probably benign |
Het |
| Emsy |
G |
T |
7: 98,239,987 (GRCm39) |
D1089E |
possibly damaging |
Het |
| Erc1 |
T |
G |
6: 119,607,570 (GRCm39) |
K677N |
probably damaging |
Het |
| Exd1 |
T |
G |
2: 119,363,948 (GRCm39) |
Q140P |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,172,714 (GRCm39) |
V284E |
probably benign |
Het |
| Fbxo36 |
A |
G |
1: 84,874,387 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,179,002 (GRCm39) |
V16E |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,982,768 (GRCm39) |
Y31N |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,886 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,826,248 (GRCm39) |
T1023A |
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,994,773 (GRCm39) |
S296R |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,438,117 (GRCm39) |
T141S |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,268,145 (GRCm39) |
I254T |
probably benign |
Het |
| Spopfm1 |
T |
C |
3: 94,173,640 (GRCm39) |
V212A |
probably damaging |
Het |
| Stat5a |
A |
T |
11: 100,752,654 (GRCm39) |
D79V |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,432 (GRCm39) |
T2158N |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,017 (GRCm39) |
K287E |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,604,090 (GRCm39) |
E164V |
possibly damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,476 (GRCm39) |
T408S |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,466 (GRCm39) |
I629F |
probably damaging |
Het |
|
| Other mutations in Dennd2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Dennd2d
|
APN |
3 |
106,407,861 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
IGL01397:Dennd2d
|
APN |
3 |
106,394,365 (GRCm39) |
critical splice donor site |
probably null |
0.00 |
|
IGL01410:Dennd2d
|
APN |
3 |
106,398,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02022:Dennd2d
|
APN |
3 |
106,407,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02309:Dennd2d
|
APN |
3 |
106,402,284 (GRCm39) |
missense |
probably benign |
|
|
R0140:Dennd2d
|
UTSW |
3 |
106,399,799 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0648:Dennd2d
|
UTSW |
3 |
106,407,871 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1519:Dennd2d
|
UTSW |
3 |
106,399,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Dennd2d
|
UTSW |
3 |
106,394,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Dennd2d
|
UTSW |
3 |
106,394,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1674:Dennd2d
|
UTSW |
3 |
106,399,833 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2179:Dennd2d
|
UTSW |
3 |
106,399,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Dennd2d
|
UTSW |
3 |
106,407,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Dennd2d
|
UTSW |
3 |
106,389,939 (GRCm39) |
unclassified |
probably benign |
|
|
R4134:Dennd2d
|
UTSW |
3 |
106,389,977 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4135:Dennd2d
|
UTSW |
3 |
106,389,977 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5214:Dennd2d
|
UTSW |
3 |
106,393,637 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5767:Dennd2d
|
UTSW |
3 |
106,395,131 (GRCm39) |
intron |
probably benign |
|
|
R6001:Dennd2d
|
UTSW |
3 |
106,399,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Dennd2d
|
UTSW |
3 |
106,402,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Dennd2d
|
UTSW |
3 |
106,398,579 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7593:Dennd2d
|
UTSW |
3 |
106,407,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Dennd2d
|
UTSW |
3 |
106,393,580 (GRCm39) |
missense |
probably benign |
|
|
R9103:Dennd2d
|
UTSW |
3 |
106,397,684 (GRCm39) |
missense |
|
|
|
R9341:Dennd2d
|
UTSW |
3 |
106,397,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Dennd2d
|
UTSW |
3 |
106,397,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9388:Dennd2d
|
UTSW |
3 |
106,395,915 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1088:Dennd2d
|
UTSW |
3 |
106,407,190 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation