Incidental Mutation 'IGL00513:Dennd2d'
| ID |
6789 |
| 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 # |
IGL00513
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106389745-106410346 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106407861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 457
(Q457L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029508]
[ENSMUST00000039153]
[ENSMUST00000068301]
[ENSMUST00000121231]
[ENSMUST00000183271]
[ENSMUST00000192438]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029508
AA Change: Q447L
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: Q447L
| 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 benign
Transcript: ENSMUST00000039153
|
| SMART Domains |
Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
81 |
229 |
6.4e-23 |
PFAM |
|
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
transmembrane domain
|
316 |
338 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061206
AA Change: Q450L
PolyPhen 2
Score 0.020 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: Q450L
| 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 |
probably benign
Transcript: ENSMUST00000068301
|
| SMART Domains |
Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
81 |
328 |
3.2e-21 |
PFAM |
|
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121231
|
| SMART Domains |
Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
83 |
158 |
7.4e-18 |
PFAM |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
304 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183271
AA Change: Q457L
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: Q457L
| 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 |
probably benign
Transcript: ENSMUST00000192438
|
| SMART Domains |
Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
81 |
215 |
2.3e-20 |
PFAM |
|
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,555,119 (GRCm39) |
I157F |
possibly damaging |
Het |
| Adamts12 |
T |
A |
15: 11,257,047 (GRCm39) |
S467T |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,279,685 (GRCm39) |
I680T |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,984,086 (GRCm39) |
Y1280C |
unknown |
Het |
| Gtpbp10 |
A |
T |
5: 5,596,372 (GRCm39) |
M112K |
possibly damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,595,035 (GRCm39) |
M678I |
probably benign |
Het |
| Kif20b |
C |
A |
19: 34,925,060 (GRCm39) |
T739K |
possibly damaging |
Het |
| Plk2 |
T |
A |
13: 110,535,298 (GRCm39) |
M444K |
probably benign |
Het |
| Scn1a |
T |
G |
2: 66,165,875 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
A |
T |
3: 102,748,278 (GRCm39) |
I838K |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,229,440 (GRCm39) |
D341G |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,794,030 (GRCm39) |
L2235F |
probably damaging |
Het |
| Wdr7 |
T |
A |
18: 63,853,846 (GRCm39) |
L60I |
possibly damaging |
Het |
|
| Other mutations in Dennd2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02032:Dennd2d
|
APN |
3 |
106,398,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation