Incidental Mutation 'R0928:Daam2'
| ID |
80699 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0928 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49795255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 313
(I313V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057610]
[ENSMUST00000224595]
|
| AlphaFold |
Q80U19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057610
AA Change: I313V
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: I313V
| 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
AA Change: I313V
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224954
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.1%
- 10x: 93.0%
- 20x: 75.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,388,333 (GRCm39) |
D179V |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,207,849 (GRCm39) |
|
probably null |
Het |
| Adad1 |
G |
A |
3: 37,130,889 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
T |
C |
1: 152,632,028 (GRCm39) |
Y19H |
probably damaging |
Het |
| Bco2 |
T |
A |
9: 50,457,231 (GRCm39) |
T104S |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
| Ccdc168 |
C |
A |
1: 44,096,388 (GRCm39) |
S1570I |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,875,988 (GRCm39) |
E184G |
probably damaging |
Het |
| Cfap70 |
T |
G |
14: 20,493,987 (GRCm39) |
K97N |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,663,663 (GRCm39) |
D745G |
possibly damaging |
Het |
| Dach1 |
T |
C |
14: 98,153,268 (GRCm39) |
S467G |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,009,297 (GRCm39) |
S2122P |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,629,274 (GRCm39) |
D1427V |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,602,566 (GRCm39) |
F97L |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,306 (GRCm39) |
|
probably null |
Het |
| En2 |
A |
T |
5: 28,375,329 (GRCm39) |
K291* |
probably null |
Het |
| Eps15 |
T |
C |
4: 109,170,160 (GRCm39) |
V154A |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,130,429 (GRCm39) |
I183V |
probably benign |
Het |
| Fcrlb |
A |
T |
1: 170,735,509 (GRCm39) |
V255D |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,360,549 (GRCm39) |
E52V |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,947,671 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
A |
C |
3: 36,079,515 (GRCm39) |
N258K |
possibly damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,777 (GRCm39) |
Y152C |
probably damaging |
Het |
| Hao1 |
C |
A |
2: 134,347,536 (GRCm39) |
L256F |
possibly damaging |
Het |
| Helz |
T |
A |
11: 107,517,519 (GRCm39) |
I685K |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Izumo2 |
A |
T |
7: 44,364,847 (GRCm39) |
I171F |
possibly damaging |
Het |
| Krt87 |
C |
A |
15: 101,389,161 (GRCm39) |
C57F |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,849 (GRCm39) |
H400R |
probably benign |
Het |
| Megf6 |
T |
A |
4: 154,261,504 (GRCm39) |
V43E |
probably damaging |
Het |
| Mmut |
T |
C |
17: 41,248,174 (GRCm39) |
I67T |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,805,395 (GRCm39) |
V396E |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,921,467 (GRCm39) |
V844E |
probably benign |
Het |
| Or2b6 |
C |
T |
13: 21,823,126 (GRCm39) |
C189Y |
probably damaging |
Het |
| P2rx3 |
A |
T |
2: 84,865,642 (GRCm39) |
M1K |
probably null |
Het |
| Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
| Ppp3r2 |
C |
A |
4: 49,681,439 (GRCm39) |
|
probably null |
Het |
| Prmt6 |
C |
T |
3: 110,157,998 (GRCm39) |
G97D |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,307,805 (GRCm39) |
V823A |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,261,711 (GRCm39) |
L142W |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,798 (GRCm39) |
D79E |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,434,545 (GRCm39) |
H194L |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,032,573 (GRCm39) |
I293F |
possibly damaging |
Het |
| Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,914 (GRCm39) |
D528G |
probably damaging |
Het |
| Tpbpb |
C |
T |
13: 61,049,989 (GRCm39) |
V47I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,737,876 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
G |
9: 48,942,191 (GRCm39) |
S341A |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,639,303 (GRCm39) |
Y345H |
probably damaging |
Het |
| Wdr11 |
C |
A |
7: 129,208,377 (GRCm39) |
D377E |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,991,775 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGTAATGTCAGGGCTGAGATAAGC -3'
(R):5'- GGGTACAAATCCCCAATGAGGACAG -3'
Sequencing Primer
(F):5'- ATATGGGTTCACCTGCCCTG -3'
(R):5'- GAGAGCTTCTCAATGAGTTTGCTAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation