Incidental Mutation 'IGL02626:Daam2'
ID |
301086 |
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 # |
IGL02626
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49797282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 168
(T168A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057610]
[ENSMUST00000224595]
|
AlphaFold |
Q80U19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057610
AA Change: T168A
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000052085 Gene: ENSMUSG00000040260 AA Change: T168A
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 |
possibly damaging
Transcript: ENSMUST00000224595
AA Change: T168A
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,810 (GRCm39) |
K1236E |
probably damaging |
Het |
Actl7a |
A |
T |
4: 56,744,353 (GRCm39) |
E293D |
possibly damaging |
Het |
Adamts2 |
T |
C |
11: 50,667,082 (GRCm39) |
Y460H |
probably damaging |
Het |
Aoc1 |
G |
A |
6: 48,883,044 (GRCm39) |
V307I |
probably benign |
Het |
Ar |
C |
T |
X: 97,358,492 (GRCm39) |
H756Y |
probably damaging |
Het |
Atg3 |
C |
T |
16: 45,004,048 (GRCm39) |
R224W |
probably benign |
Het |
Atp5po |
G |
A |
16: 91,483,201 (GRCm39) |
P47S |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,311,054 (GRCm39) |
E43G |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,934,059 (GRCm39) |
|
probably benign |
Het |
Cd33 |
A |
G |
7: 43,179,736 (GRCm39) |
|
probably benign |
Het |
Cd36 |
T |
A |
5: 18,002,126 (GRCm39) |
R292* |
probably null |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,227,580 (GRCm39) |
D1167G |
probably damaging |
Het |
Cdk5rap1 |
A |
G |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
Chd6 |
A |
G |
2: 160,881,270 (GRCm39) |
|
probably benign |
Het |
Chd7 |
A |
T |
4: 8,826,519 (GRCm39) |
Y961F |
probably damaging |
Het |
Cpe |
T |
C |
8: 65,145,829 (GRCm39) |
E52G |
probably benign |
Het |
Cpne5 |
C |
T |
17: 29,379,311 (GRCm39) |
G491S |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,567,503 (GRCm39) |
|
probably benign |
Het |
Ctbp2 |
T |
A |
7: 132,600,940 (GRCm39) |
T608S |
probably benign |
Het |
Cybb |
A |
G |
X: 9,335,439 (GRCm39) |
|
probably null |
Het |
Dnah5 |
G |
T |
15: 28,307,422 (GRCm39) |
V1717F |
possibly damaging |
Het |
Dse |
G |
A |
10: 34,029,158 (GRCm39) |
T644I |
probably damaging |
Het |
Dtd2 |
A |
C |
12: 52,051,708 (GRCm39) |
Y45* |
probably null |
Het |
Fgfr1op2 |
T |
A |
6: 146,491,509 (GRCm39) |
M124K |
probably benign |
Het |
Flii |
T |
C |
11: 60,610,685 (GRCm39) |
D537G |
probably benign |
Het |
Fntb |
T |
A |
12: 76,944,145 (GRCm39) |
I217N |
probably benign |
Het |
Foxi1 |
A |
G |
11: 34,155,860 (GRCm39) |
S257P |
probably benign |
Het |
Fyn |
G |
A |
10: 39,402,798 (GRCm39) |
R190H |
probably damaging |
Het |
Gm28557 |
T |
A |
13: 67,223,008 (GRCm39) |
T8S |
probably benign |
Het |
Gramd1b |
T |
C |
9: 40,209,306 (GRCm39) |
K873E |
probably damaging |
Het |
Grb10 |
T |
C |
11: 11,895,503 (GRCm39) |
T329A |
probably benign |
Het |
Haus5 |
A |
G |
7: 30,356,675 (GRCm39) |
L477P |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,491,944 (GRCm39) |
E3761V |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,421,840 (GRCm39) |
I930V |
probably benign |
Het |
Itprid1 |
T |
A |
6: 55,945,631 (GRCm39) |
V784D |
probably benign |
Het |
Izumo2 |
A |
G |
7: 44,358,560 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,053,257 (GRCm39) |
|
probably benign |
Het |
Morc1 |
A |
G |
16: 48,436,123 (GRCm39) |
S753G |
probably damaging |
Het |
Mpzl2 |
C |
T |
9: 44,955,590 (GRCm39) |
T167I |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,926,532 (GRCm39) |
I491N |
probably damaging |
Het |
Myo18b |
A |
T |
5: 113,025,951 (GRCm39) |
I33N |
unknown |
Het |
Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
Or10ak13 |
T |
C |
4: 118,639,531 (GRCm39) |
M84V |
probably damaging |
Het |
Or4f58 |
A |
T |
2: 111,851,458 (GRCm39) |
V247E |
probably damaging |
Het |
Or5d47 |
T |
C |
2: 87,804,068 (GRCm39) |
N314D |
probably benign |
Het |
Or8d2b |
T |
C |
9: 38,788,784 (GRCm39) |
L104S |
probably benign |
Het |
Ralyl |
A |
T |
3: 13,842,094 (GRCm39) |
M77L |
probably benign |
Het |
Rap1gap |
T |
A |
4: 137,454,364 (GRCm39) |
V649E |
probably benign |
Het |
Rnf40 |
C |
A |
7: 127,195,744 (GRCm39) |
Q663K |
probably damaging |
Het |
Slc22a18 |
T |
C |
7: 143,052,837 (GRCm39) |
L354P |
probably damaging |
Het |
Slc9a8 |
T |
C |
2: 167,309,597 (GRCm39) |
|
probably benign |
Het |
Surf4 |
C |
T |
2: 26,815,619 (GRCm39) |
|
probably null |
Het |
T |
A |
T |
17: 8,654,069 (GRCm39) |
N85Y |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,630,216 (GRCm39) |
E732G |
probably damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,649 (GRCm39) |
V199A |
possibly damaging |
Het |
Trim43b |
T |
C |
9: 88,967,541 (GRCm39) |
Y365C |
possibly damaging |
Het |
Ubd |
T |
C |
17: 37,506,573 (GRCm39) |
L153P |
probably damaging |
Het |
Xpnpep2 |
A |
C |
X: 47,215,786 (GRCm39) |
M513L |
probably benign |
Het |
Zar1l |
C |
T |
5: 150,441,210 (GRCm39) |
G139R |
probably damaging |
Het |
Zc3hav1 |
T |
G |
6: 38,309,926 (GRCm39) |
T299P |
probably damaging |
Het |
Zfp236 |
C |
A |
18: 82,676,120 (GRCm39) |
|
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 |
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 |
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 |
2015-04-16 |