Incidental Mutation 'R6385:Daam2'
| ID |
515582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daam2
|
| Ensembl Gene |
ENSMUSG00000040260 |
| Gene Name |
dishevelled associated activator of morphogenesis 2 |
| Synonyms |
2310016D11Rik |
| MMRRC Submission |
044534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49770964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 918
(A918T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057610]
|
| AlphaFold |
Q80U19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057610
AA Change: A918T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: A918T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,236 (GRCm39) |
M910L |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,025,080 (GRCm39) |
I988F |
probably damaging |
Het |
| Adgra2 |
A |
T |
8: 27,608,878 (GRCm39) |
S92C |
probably damaging |
Het |
| Apon |
A |
G |
10: 128,090,223 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,130,084 (GRCm39) |
R26* |
probably null |
Het |
| Btnl6 |
T |
G |
17: 34,727,343 (GRCm39) |
I396L |
probably benign |
Het |
| Catsper3 |
G |
T |
13: 55,934,239 (GRCm39) |
Q53H |
probably damaging |
Het |
| Cep164 |
T |
G |
9: 45,691,081 (GRCm39) |
E372A |
probably damaging |
Het |
| Cln3 |
A |
T |
7: 126,174,207 (GRCm39) |
C339S |
probably null |
Het |
| Cntnap2 |
G |
A |
6: 46,833,114 (GRCm39) |
D776N |
probably benign |
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,952 (GRCm39) |
F311L |
probably benign |
Het |
| Dst |
T |
C |
1: 34,346,549 (GRCm39) |
V7353A |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,032,606 (GRCm39) |
|
probably null |
Het |
| Filip1 |
G |
T |
9: 79,727,813 (GRCm39) |
Q269K |
possibly damaging |
Het |
| Fut9 |
G |
A |
4: 25,620,328 (GRCm39) |
S162L |
probably damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,433,544 (GRCm39) |
H294Q |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,313 (GRCm39) |
I225T |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,576 (GRCm39) |
N75K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,424 (GRCm39) |
M6V |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,038,856 (GRCm39) |
H198L |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,855,371 (GRCm39) |
L266P |
probably damaging |
Het |
| Ifna11 |
A |
G |
4: 88,738,386 (GRCm39) |
E64G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,838,326 (GRCm39) |
T850A |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,768,610 (GRCm39) |
T36A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,326,128 (GRCm39) |
S1810G |
probably benign |
Het |
| Lypd10 |
A |
T |
7: 24,413,535 (GRCm39) |
I184F |
probably damaging |
Het |
| Msln |
T |
A |
17: 25,970,115 (GRCm39) |
D280V |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,146,663 (GRCm39) |
I1513F |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,173 (GRCm39) |
M262L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,075,311 (GRCm39) |
A218D |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,792,788 (GRCm39) |
Q640K |
probably null |
Het |
| Or4f7 |
T |
C |
2: 111,644,964 (GRCm39) |
I36V |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,033,104 (GRCm39) |
V35D |
possibly damaging |
Het |
| Or6k6 |
A |
T |
1: 173,944,862 (GRCm39) |
F240Y |
probably damaging |
Het |
| Pear1 |
G |
T |
3: 87,661,506 (GRCm39) |
H562N |
probably benign |
Het |
| Poli |
C |
A |
18: 70,663,072 (GRCm39) |
|
probably benign |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,767 (GRCm39) |
I61T |
possibly damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Serhl |
A |
G |
15: 82,985,823 (GRCm39) |
T5A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,405,578 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
G |
19: 8,078,844 (GRCm39) |
S282P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,569,929 (GRCm39) |
T540I |
possibly damaging |
Het |
| Slurp2 |
T |
C |
15: 74,618,524 (GRCm39) |
M1V |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,185,411 (GRCm39) |
A700T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,748,192 (GRCm39) |
V4286I |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,389,341 (GRCm39) |
K214R |
possibly damaging |
Het |
| Vmn1r46 |
A |
G |
6: 89,953,427 (GRCm39) |
H92R |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,504 (GRCm39) |
I1486T |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,565,192 (GRCm39) |
S236T |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,721,932 (GRCm39) |
K1312E |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,681,283 (GRCm39) |
Y326C |
probably damaging |
Het |
| Zfp972 |
G |
T |
2: 177,563,588 (GRCm39) |
D8E |
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 |
|
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'- AGTTATAGCCACCACCTCCCTC -3'
(R):5'- CTCCATTCTGGCTCATTCTTAGA -3'
Sequencing Primer
(F):5'- AAGTTCCATTTGCCCAGAATGC -3'
(R):5'- TGTGAGTGCTCAGACCTAAACTCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation