Incidental Mutation 'R9286:Daam2'
| ID |
703949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daam2
|
| Ensembl Gene |
ENSMUSG00000040260 |
| Gene Name |
dishevelled associated activator of morphogenesis 2 |
| Synonyms |
2310016D11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9286 (G1)
|
| Quality Score |
140.008 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49786922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 539
(D539E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057610]
[ENSMUST00000224595]
|
| AlphaFold |
Q80U19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057610
AA Change: D539E
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: D539E
| 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 |
probably benign
Transcript: ENSMUST00000224595
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
G |
C |
15: 91,058,827 (GRCm39) |
P539R |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,794,413 (GRCm39) |
D478V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,594,520 (GRCm39) |
Y4165N |
probably damaging |
Het |
| Ago2 |
A |
G |
15: 72,997,065 (GRCm39) |
L326P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,119,254 (GRCm39) |
K1107T |
possibly damaging |
Het |
| Ank2 |
C |
T |
3: 126,846,381 (GRCm39) |
A205T |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,326,869 (GRCm39) |
V738A |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,150 (GRCm39) |
K291R |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,288,845 (GRCm39) |
P1847T |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cps1 |
T |
G |
1: 67,198,030 (GRCm39) |
M365R |
probably damaging |
Het |
| Ctc1 |
T |
G |
11: 68,917,180 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
G |
T |
7: 25,616,391 (GRCm39) |
G333C |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,443,403 (GRCm39) |
E455G |
probably damaging |
Het |
| Dip2a |
T |
A |
10: 76,138,096 (GRCm39) |
Y370F |
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,672,099 (GRCm39) |
E134K |
possibly damaging |
Het |
| Dync2h1 |
C |
T |
9: 6,941,668 (GRCm39) |
A4164T |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,683,696 (GRCm39) |
Y558C |
|
Het |
| Eif3b |
A |
G |
5: 140,411,064 (GRCm39) |
I172V |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,873,414 (GRCm38) |
F237L |
probably damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,647,639 (GRCm39) |
I429V |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,848,315 (GRCm39) |
Y151C |
|
Het |
| Gys2 |
C |
A |
6: 142,376,037 (GRCm39) |
V542L |
possibly damaging |
Het |
| Hmx1 |
A |
G |
5: 35,546,776 (GRCm39) |
T106A |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,517,604 (GRCm39) |
V268A |
possibly damaging |
Het |
| Kansl3 |
T |
C |
1: 36,387,720 (GRCm39) |
T543A |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,752,148 (GRCm39) |
|
probably null |
Het |
| Larp7 |
CCTTCTT |
CCTT |
3: 127,340,008 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,740,844 (GRCm39) |
F449L |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,712 (GRCm39) |
E229G |
probably damaging |
Het |
| Loxl4 |
A |
T |
19: 42,586,047 (GRCm39) |
V699E |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,273,609 (GRCm39) |
D489G |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,060,573 (GRCm39) |
H748L |
probably benign |
Het |
| Nudcd2 |
T |
A |
11: 40,627,403 (GRCm39) |
Y108N |
probably damaging |
Het |
| Or10g1 |
G |
A |
14: 52,648,075 (GRCm39) |
R85* |
probably null |
Het |
| Or52b2 |
A |
C |
7: 104,985,971 (GRCm39) |
C317W |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,479,791 (GRCm39) |
I28N |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,422 (GRCm39) |
V404E |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,607,183 (GRCm39) |
D2084G |
probably damaging |
Het |
| Phf20 |
A |
T |
2: 156,134,470 (GRCm39) |
K552M |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,331,976 (GRCm39) |
D854G |
probably benign |
Het |
| Psen1 |
A |
G |
12: 83,775,549 (GRCm39) |
N316D |
probably benign |
Het |
| Rabgap1l |
G |
A |
1: 160,051,818 (GRCm39) |
Q361* |
probably null |
Het |
| Ralb |
A |
T |
1: 119,399,544 (GRCm39) |
D171E |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,682,947 (GRCm39) |
I355T |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,995,849 (GRCm39) |
K211E |
probably benign |
Het |
| Scg2 |
A |
G |
1: 79,413,653 (GRCm39) |
S357P |
probably damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,445,566 (GRCm39) |
W456R |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,191,932 (GRCm39) |
D967E |
probably damaging |
Het |
| Spryd3 |
A |
T |
15: 102,041,869 (GRCm39) |
V51E |
possibly damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,563 (GRCm39) |
H187R |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,252,643 (GRCm39) |
E348G |
probably damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,332 (GRCm39) |
I123T |
probably damaging |
Het |
| Tonsl |
G |
A |
15: 76,515,213 (GRCm39) |
H1058Y |
probably damaging |
Het |
| Trav13d-1 |
A |
G |
14: 53,089,050 (GRCm39) |
K20E |
probably benign |
Het |
| Trpm2 |
C |
A |
10: 77,777,014 (GRCm39) |
V428L |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,904,864 (GRCm39) |
Y810C |
probably damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,692,079 (GRCm39) |
F299I |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,499,175 (GRCm39) |
F430L |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,880,203 (GRCm39) |
V3462I |
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,521,683 (GRCm39) |
I384T |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,783,812 (GRCm39) |
D1138G |
probably damaging |
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 |
|
IGL02875:Daam2
|
APN |
17 |
49,771,056 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTGACCCAGTTGAAGGAC -3'
(R):5'- CCTGGTGCTTCACATTGATGG -3'
Sequencing Primer
(F):5'- CTGGGGAATGCGCTTTTTCC -3'
(R):5'- CACATTGATGGTTTGAGTGCATGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation