Incidental Mutation 'IGL01482:Dennd2a'
ID |
88670 |
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 # |
IGL01482
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
39439312-39534801 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39457243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 733
(H733R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036877]
|
AlphaFold |
Q8C4S8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036877
AA Change: H733R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045367 Gene: ENSMUSG00000038456 AA Change: H733R
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: ENSMUST00000149162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202707
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
T |
1: 120,099,201 (GRCm39) |
D98V |
probably benign |
Het |
Aatf |
G |
A |
11: 84,361,536 (GRCm39) |
R356C |
possibly damaging |
Het |
Abca15 |
A |
T |
7: 119,981,969 (GRCm39) |
T1095S |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,011,599 (GRCm39) |
F1148S |
probably benign |
Het |
Adam12 |
G |
T |
7: 133,569,577 (GRCm39) |
D299E |
probably damaging |
Het |
Alyref |
A |
T |
11: 120,486,762 (GRCm39) |
N166K |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,710,790 (GRCm39) |
I714N |
probably benign |
Het |
Bves |
A |
G |
10: 45,230,902 (GRCm39) |
E291G |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,500,692 (GRCm39) |
N183S |
possibly damaging |
Het |
Erbb3 |
C |
T |
10: 128,408,798 (GRCm39) |
G762S |
possibly damaging |
Het |
Gm29326 |
A |
C |
7: 29,260,136 (GRCm39) |
|
noncoding transcript |
Het |
Itgb2l |
A |
T |
16: 96,239,948 (GRCm39) |
L17Q |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,567,937 (GRCm39) |
D668E |
probably benign |
Het |
Ksr1 |
G |
A |
11: 78,927,409 (GRCm39) |
T308I |
probably damaging |
Het |
Mfap4 |
A |
G |
11: 61,378,583 (GRCm39) |
D177G |
probably damaging |
Het |
Mmut |
C |
T |
17: 41,267,162 (GRCm39) |
R579C |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,307,797 (GRCm39) |
I369F |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
Nckap5 |
G |
T |
1: 125,950,897 (GRCm39) |
S1598Y |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,526,159 (GRCm39) |
M60L |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,283,790 (GRCm39) |
N739S |
possibly damaging |
Het |
Or5p58 |
A |
C |
7: 107,694,693 (GRCm39) |
V28G |
probably benign |
Het |
Pappa |
A |
T |
4: 65,074,271 (GRCm39) |
H275L |
probably benign |
Het |
Plekhm2 |
A |
G |
4: 141,357,340 (GRCm39) |
S711P |
probably damaging |
Het |
Ptpn1 |
G |
A |
2: 167,809,712 (GRCm39) |
V107M |
probably damaging |
Het |
Ptprf |
G |
A |
4: 118,069,651 (GRCm39) |
R1498C |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,037 (GRCm39) |
I396T |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,751,762 (GRCm39) |
F3668S |
probably damaging |
Het |
Serpinb6d |
T |
C |
13: 33,855,346 (GRCm39) |
V340A |
probably benign |
Het |
Silc1 |
T |
A |
12: 27,191,893 (GRCm39) |
|
noncoding transcript |
Het |
Spaca3 |
G |
T |
11: 80,758,510 (GRCm39) |
V158L |
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,857,639 (GRCm39) |
N66S |
probably benign |
Het |
Tmem132d |
A |
T |
5: 128,346,270 (GRCm39) |
I84N |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,295,057 (GRCm39) |
D523V |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
Yeats2 |
C |
T |
16: 20,041,671 (GRCm39) |
T1202I |
probably 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 |
IGL02135:Dennd2a
|
APN |
6 |
39,457,205 (GRCm39) |
nonsense |
probably null |
|
IGL02206:Dennd2a
|
APN |
6 |
39,500,383 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02649:Dennd2a
|
APN |
6 |
39,447,290 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
2013-11-18 |