Incidental Mutation 'IGL01397:Dennd2d'
ID |
79520 |
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 # |
IGL01397
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
106389745-106410346 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 106394365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029508]
[ENSMUST00000149225]
[ENSMUST00000183271]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000029508
|
SMART Domains |
Protein: ENSMUSP00000029508 Gene: ENSMUSG00000027901
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 null
Transcript: ENSMUST00000061206
|
SMART Domains |
Protein: ENSMUSP00000053035 Gene: ENSMUSG00000027901
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 null
Transcript: ENSMUST00000061206
|
SMART Domains |
Protein: ENSMUSP00000053035 Gene: ENSMUSG00000027901
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 null
Transcript: ENSMUST00000061206
|
SMART Domains |
Protein: ENSMUSP00000053035 Gene: ENSMUSG00000027901
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 |
noncoding transcript
Transcript: ENSMUST00000164330
|
SMART Domains |
Protein: ENSMUSP00000127168 Gene: ENSMUSG00000091575
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183271
|
SMART Domains |
Protein: ENSMUSP00000138462 Gene: ENSMUSG00000027901
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: ENSMUST00000187757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190356
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193651
|
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 |
Acoxl |
A |
C |
2: 127,876,811 (GRCm39) |
T436P |
possibly damaging |
Het |
Afap1 |
T |
A |
5: 36,126,052 (GRCm39) |
V349E |
probably damaging |
Het |
Arfgef1 |
C |
T |
1: 10,229,796 (GRCm39) |
V1302I |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,862,321 (GRCm39) |
W58R |
probably damaging |
Het |
Brpf3 |
A |
T |
17: 29,036,606 (GRCm39) |
K670N |
probably benign |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,883,517 (GRCm39) |
E124G |
probably damaging |
Het |
Crybb3 |
T |
C |
5: 113,227,701 (GRCm39) |
E40G |
probably damaging |
Het |
Dhx34 |
A |
G |
7: 15,944,468 (GRCm39) |
L582P |
probably damaging |
Het |
Dst |
A |
G |
1: 34,296,825 (GRCm39) |
K5738R |
probably damaging |
Het |
Eif4g1 |
T |
A |
16: 20,498,425 (GRCm39) |
L328Q |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,015,897 (GRCm39) |
K357E |
probably benign |
Het |
F8 |
A |
G |
X: 74,423,145 (GRCm39) |
S25P |
probably benign |
Het |
Fgd2 |
A |
G |
17: 29,586,949 (GRCm39) |
E293G |
probably damaging |
Het |
Foxi1 |
T |
A |
11: 34,157,599 (GRCm39) |
Q142L |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,350,991 (GRCm39) |
E316G |
probably benign |
Het |
Glb1l3 |
C |
T |
9: 26,736,491 (GRCm39) |
D524N |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,941,152 (GRCm39) |
V1366D |
possibly damaging |
Het |
Idh1 |
T |
C |
1: 65,207,754 (GRCm39) |
T142A |
possibly damaging |
Het |
Lamc1 |
C |
A |
1: 153,126,880 (GRCm39) |
G422V |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,361,094 (GRCm39) |
H691Q |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,837,042 (GRCm39) |
Y1259C |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,778,498 (GRCm39) |
|
noncoding transcript |
Het |
Nphs1 |
A |
G |
7: 30,186,089 (GRCm39) |
D1240G |
probably benign |
Het |
Or3a1b |
T |
A |
11: 74,012,590 (GRCm39) |
N158K |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,487,249 (GRCm39) |
N5K |
probably damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,088 (GRCm39) |
T121I |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,679,098 (GRCm39) |
N290S |
probably benign |
Het |
Pex5l |
G |
A |
3: 33,006,746 (GRCm39) |
T541I |
probably damaging |
Het |
Plch1 |
A |
C |
3: 63,639,150 (GRCm39) |
|
probably null |
Het |
Ppp4r3b |
C |
T |
11: 29,163,594 (GRCm39) |
A722V |
probably benign |
Het |
Ptges3 |
T |
C |
10: 127,906,069 (GRCm39) |
S85P |
probably benign |
Het |
R3hdm2 |
C |
T |
10: 127,294,719 (GRCm39) |
R201W |
probably damaging |
Het |
Rcan2 |
C |
A |
17: 44,147,359 (GRCm39) |
Q66K |
possibly damaging |
Het |
Skint4 |
A |
G |
4: 111,977,207 (GRCm39) |
N199S |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,938,877 (GRCm39) |
T951A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,762,444 (GRCm39) |
|
probably benign |
Het |
Snx30 |
T |
C |
4: 59,894,526 (GRCm39) |
V368A |
probably benign |
Het |
Spata31d1a |
C |
T |
13: 59,849,552 (GRCm39) |
A859T |
probably damaging |
Het |
Tg |
G |
A |
15: 66,567,941 (GRCm39) |
|
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,775,792 (GRCm39) |
V422A |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,933,647 (GRCm39) |
S2356P |
probably damaging |
Het |
Vmn1r122 |
A |
G |
7: 20,867,707 (GRCm39) |
V116A |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,224,959 (GRCm39) |
D683G |
probably benign |
Het |
Wdr35 |
C |
A |
12: 9,058,550 (GRCm39) |
T580K |
probably benign |
Het |
Wwc2 |
T |
A |
8: 48,321,311 (GRCm39) |
N601I |
unknown |
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 |
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 |
2013-11-05 |