Incidental Mutation 'IGL02875:Daam2'
| ID |
406204 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Daam2
|
| Ensembl Gene |
ENSMUSG00000040260 |
| Gene Name |
dishevelled associated activator of morphogenesis 2 |
| Synonyms |
2310016D11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 49771056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 887
(I887S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057610]
|
| AlphaFold |
Q80U19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057610
AA Change: I887S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: I887S
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
40 |
228 |
4.89e-61 |
SMART |
|
Drf_FH3
|
231 |
429 |
1.19e-73 |
SMART |
|
Blast:FH2
|
476 |
513 |
4e-10 |
BLAST |
|
low complexity region
|
514 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
576 |
N/A |
INTRINSIC |
|
FH2
|
595 |
1085 |
7.36e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224954
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
| Asph |
A |
G |
4: 9,595,380 (GRCm39) |
S281P |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,896,713 (GRCm39) |
V1053A |
probably damaging |
Het |
| Btg4 |
T |
A |
9: 51,030,446 (GRCm39) |
F182Y |
probably benign |
Het |
| Casc3 |
T |
G |
11: 98,712,378 (GRCm39) |
V139G |
probably damaging |
Het |
| Ccno |
C |
A |
13: 113,124,586 (GRCm39) |
P52Q |
possibly damaging |
Het |
| Cdk1 |
T |
G |
10: 69,178,366 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,579,985 (GRCm39) |
D315G |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,115,698 (GRCm39) |
I1515V |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,864,231 (GRCm39) |
I1241K |
probably benign |
Het |
| Fam180a |
T |
C |
6: 35,290,617 (GRCm39) |
D122G |
probably damaging |
Het |
| Gm11992 |
C |
T |
11: 9,002,887 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
| Krt77 |
T |
C |
15: 101,777,584 (GRCm39) |
D157G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
T |
A |
16: 31,772,971 (GRCm39) |
L36Q |
probably damaging |
Het |
| Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,472 (GRCm39) |
M101V |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,970,601 (GRCm39) |
D130G |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,636,404 (GRCm39) |
M615K |
possibly damaging |
Het |
| Prep |
C |
A |
10: 45,034,529 (GRCm39) |
H680Q |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,493,365 (GRCm39) |
I264T |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
| Skint3 |
A |
T |
4: 112,113,079 (GRCm39) |
I230L |
possibly damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,104,253 (GRCm39) |
Y375H |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,082,821 (GRCm39) |
|
probably benign |
Het |
| Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
probably benign |
Het |
|
| Other mutations in Daam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02150:Daam2
|
APN |
17 |
49,797,332 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02373:Daam2
|
APN |
17 |
49,780,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Daam2
|
APN |
17 |
49,797,282 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02793:Daam2
|
APN |
17 |
49,771,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Daam2
|
APN |
17 |
49,776,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03370:Daam2
|
APN |
17 |
49,793,529 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0145:Daam2
|
UTSW |
17 |
49,787,806 (GRCm39) |
missense |
probably benign |
|
|
R0310:Daam2
|
UTSW |
17 |
49,770,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0362:Daam2
|
UTSW |
17 |
49,787,813 (GRCm39) |
splice site |
probably null |
|
|
R0423:Daam2
|
UTSW |
17 |
49,776,449 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Daam2
|
UTSW |
17 |
49,805,911 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0928:Daam2
|
UTSW |
17 |
49,795,255 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1444:Daam2
|
UTSW |
17 |
49,787,779 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1559:Daam2
|
UTSW |
17 |
49,803,148 (GRCm39) |
splice site |
probably benign |
|
|
R1733:Daam2
|
UTSW |
17 |
49,797,231 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1919:Daam2
|
UTSW |
17 |
49,792,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1930:Daam2
|
UTSW |
17 |
49,769,241 (GRCm39) |
splice site |
probably null |
|
|
R1968:Daam2
|
UTSW |
17 |
49,790,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Daam2
|
UTSW |
17 |
49,787,785 (GRCm39) |
nonsense |
probably null |
|
|
R3004:Daam2
|
UTSW |
17 |
49,767,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3726:Daam2
|
UTSW |
17 |
49,776,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Daam2
|
UTSW |
17 |
49,765,624 (GRCm39) |
missense |
probably benign |
|
|
R4833:Daam2
|
UTSW |
17 |
49,797,173 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4878:Daam2
|
UTSW |
17 |
49,767,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Daam2
|
UTSW |
17 |
49,783,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Daam2
|
UTSW |
17 |
49,783,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Daam2
|
UTSW |
17 |
49,801,419 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5419:Daam2
|
UTSW |
17 |
49,787,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5529:Daam2
|
UTSW |
17 |
49,766,085 (GRCm39) |
missense |
probably benign |
|
|
R5974:Daam2
|
UTSW |
17 |
49,771,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Daam2
|
UTSW |
17 |
49,766,232 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6032:Daam2
|
UTSW |
17 |
49,793,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Daam2
|
UTSW |
17 |
49,793,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Daam2
|
UTSW |
17 |
49,793,530 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6180:Daam2
|
UTSW |
17 |
49,776,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6225:Daam2
|
UTSW |
17 |
49,801,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6385:Daam2
|
UTSW |
17 |
49,770,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6426:Daam2
|
UTSW |
17 |
49,776,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6427:Daam2
|
UTSW |
17 |
49,776,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Daam2
|
UTSW |
17 |
49,776,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Daam2
|
UTSW |
17 |
49,776,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Daam2
|
UTSW |
17 |
49,789,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7108:Daam2
|
UTSW |
17 |
49,767,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Daam2
|
UTSW |
17 |
49,793,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7599:Daam2
|
UTSW |
17 |
49,787,755 (GRCm39) |
nonsense |
probably null |
|
|
R7763:Daam2
|
UTSW |
17 |
49,797,050 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8039:Daam2
|
UTSW |
17 |
49,771,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Daam2
|
UTSW |
17 |
49,803,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Daam2
|
UTSW |
17 |
49,769,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Daam2
|
UTSW |
17 |
49,786,922 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9508:Daam2
|
UTSW |
17 |
49,765,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Daam2
|
UTSW |
17 |
49,780,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V1662:Daam2
|
UTSW |
17 |
49,771,629 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Daam2
|
UTSW |
17 |
49,796,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Daam2
|
UTSW |
17 |
49,771,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation