Incidental Mutation 'R4833:Daam2'
| ID |
373021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daam2
|
| Ensembl Gene |
ENSMUSG00000040260 |
| Gene Name |
dishevelled associated activator of morphogenesis 2 |
| Synonyms |
2310016D11Rik |
| MMRRC Submission |
042449-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4833 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49797173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 204
(I204N)
|
| 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: I204N
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: I204N
| 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: I204N
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224954
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
99% (74/75) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,872 (GRCm39) |
T153K |
possibly damaging |
Het |
| Abca5 |
A |
C |
11: 110,170,142 (GRCm39) |
Y1318D |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,117 (GRCm39) |
I22T |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,708,963 (GRCm39) |
H1147L |
possibly damaging |
Het |
| Ankrd2 |
T |
C |
19: 42,032,296 (GRCm39) |
|
probably null |
Het |
| Bdkrb2 |
T |
C |
12: 105,557,917 (GRCm39) |
W53R |
probably benign |
Het |
| Blm |
T |
A |
7: 80,116,574 (GRCm39) |
I1111L |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,117 (GRCm39) |
I2007V |
probably damaging |
Het |
| Bmp3 |
T |
G |
5: 99,003,066 (GRCm39) |
L32R |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,220,817 (GRCm39) |
E1312A |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,486,183 (GRCm39) |
T560M |
probably benign |
Het |
| Cimap1a |
T |
C |
7: 140,428,191 (GRCm39) |
M1T |
probably null |
Het |
| Cmtm8 |
C |
A |
9: 114,625,233 (GRCm39) |
R66I |
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,120 (GRCm39) |
Y357H |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,507,323 (GRCm39) |
V252E |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,949,178 (GRCm39) |
M819K |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,430,783 (GRCm39) |
S372P |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,755,576 (GRCm39) |
D216G |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,364,636 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,505 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
A |
G |
4: 155,627,524 (GRCm39) |
T102A |
possibly damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,544,980 (GRCm39) |
A204V |
probably null |
Het |
| Hnrnpu |
T |
C |
1: 178,161,459 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 35,009,569 (GRCm39) |
T1517A |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,775,889 (GRCm39) |
D223V |
probably damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,572 (GRCm39) |
S71P |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
| Lipt1 |
T |
G |
1: 37,914,610 (GRCm39) |
L222R |
probably damaging |
Het |
| Lrrc41 |
A |
G |
4: 115,950,374 (GRCm39) |
|
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,498 (GRCm39) |
V98A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,910,692 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
C |
T |
17: 36,161,286 (GRCm39) |
S733F |
probably benign |
Het |
| Mknk1 |
C |
T |
4: 115,735,383 (GRCm39) |
|
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,505 (GRCm39) |
F141S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,778,428 (GRCm39) |
D1G |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,409 (GRCm39) |
L113F |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,628,540 (GRCm39) |
V183E |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,003,892 (GRCm39) |
Y161C |
probably damaging |
Het |
| Psen1 |
G |
A |
12: 83,778,552 (GRCm39) |
V412I |
probably benign |
Het |
| Psmc4 |
C |
A |
7: 27,746,937 (GRCm39) |
G77V |
probably damaging |
Het |
| Psmd3 |
A |
G |
11: 98,578,586 (GRCm39) |
Y207C |
probably damaging |
Het |
| Pxk |
T |
A |
14: 8,130,653 (GRCm38) |
M84K |
probably damaging |
Het |
| Rab44 |
A |
C |
17: 29,355,311 (GRCm39) |
Q19P |
probably damaging |
Het |
| Rbks |
A |
G |
5: 31,781,859 (GRCm39) |
Y314H |
probably benign |
Het |
| Rftn2 |
T |
C |
1: 55,253,399 (GRCm39) |
D68G |
possibly damaging |
Het |
| Rims2 |
T |
A |
15: 39,399,310 (GRCm39) |
S838R |
probably damaging |
Het |
| Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,169,982 (GRCm39) |
L554P |
probably damaging |
Het |
| Spink2 |
G |
T |
5: 77,353,239 (GRCm39) |
D83E |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
A |
T |
10: 23,968,030 (GRCm39) |
S55T |
possibly damaging |
Het |
| Tbca |
A |
G |
13: 94,968,918 (GRCm39) |
E35G |
probably benign |
Het |
| Tmc5 |
C |
A |
7: 118,228,052 (GRCm39) |
H307Q |
probably benign |
Het |
| Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
| Tmem72 |
T |
C |
6: 116,675,319 (GRCm39) |
T58A |
probably benign |
Het |
| Ttc7 |
C |
T |
17: 87,641,749 (GRCm39) |
P449S |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,868,722 (GRCm39) |
E449G |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,129,857 (GRCm39) |
T659K |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,704,372 (GRCm39) |
Y98H |
probably damaging |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,878 (GRCm39) |
Y88H |
probably benign |
Het |
| Zfp384 |
A |
T |
6: 125,007,811 (GRCm39) |
H247L |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,295 (GRCm39) |
A518V |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,296,992 (GRCm39) |
H47Q |
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 |
|
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 |
|
|
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'- TAACCTGTCAACCCATTGCC -3'
(R):5'- GCTGCTGTGACTGGAACATG -3'
Sequencing Primer
(F):5'- TTGCCCACCTGGAAACGAG -3'
(R):5'- CAGAAAACTCCTTTTGGGCTCTGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation