Incidental Mutation 'R6032:Daam2'
| ID |
486357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daam2
|
| Ensembl Gene |
ENSMUSG00000040260 |
| Gene Name |
dishevelled associated activator of morphogenesis 2 |
| Synonyms |
2310016D11Rik |
| MMRRC Submission |
044204-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 49793525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 331
(F331V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057610]
[ENSMUST00000224595]
|
| AlphaFold |
Q80U19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057610
AA Change: F331V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: F331V
| 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 damaging
Transcript: ENSMUST00000224595
AA Change: F331V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224954
|
| Meta Mutation Damage Score |
0.6018 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,526,799 (GRCm39) |
K1071* |
probably null |
Het |
| Abca13 |
G |
T |
11: 9,247,752 (GRCm39) |
V2500F |
possibly damaging |
Het |
| Adamdec1 |
T |
C |
14: 68,816,633 (GRCm39) |
E85G |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,264,970 (GRCm39) |
V199A |
probably benign |
Het |
| Aoc2 |
G |
A |
11: 101,216,627 (GRCm39) |
V237M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,062,240 (GRCm39) |
R672H |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,045,513 (GRCm39) |
N886S |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,927,303 (GRCm39) |
Y328C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,267,521 (GRCm39) |
Y103C |
probably damaging |
Het |
| Crem |
C |
T |
18: 3,267,673 (GRCm39) |
R190Q |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,832,756 (GRCm39) |
S2000P |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,329,995 (GRCm39) |
T2629S |
probably benign |
Het |
| Cyp3a44 |
G |
T |
5: 145,714,756 (GRCm39) |
S465Y |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,205,443 (GRCm39) |
S146P |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fam184b |
G |
A |
5: 45,740,238 (GRCm39) |
S316L |
probably benign |
Het |
| Fat2 |
G |
C |
11: 55,144,760 (GRCm39) |
T4038S |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,360,437 (GRCm39) |
R439C |
probably damaging |
Het |
| Gm3454 |
T |
A |
15: 75,183,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,617 (GRCm39) |
E284G |
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,595,549 (GRCm39) |
I693N |
probably damaging |
Het |
| Gsdme |
T |
A |
6: 50,222,934 (GRCm39) |
Q127L |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,937 (GRCm39) |
K458E |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,080 (GRCm39) |
F148L |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,057,638 (GRCm39) |
T571A |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,469,254 (GRCm39) |
V108M |
probably damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,264,147 (GRCm39) |
D144E |
possibly damaging |
Het |
| Nos3 |
A |
T |
5: 24,584,809 (GRCm39) |
T738S |
probably benign |
Het |
| Nrxn2 |
A |
T |
19: 6,567,162 (GRCm39) |
T1353S |
probably damaging |
Het |
| Or2b7 |
G |
T |
13: 21,740,077 (GRCm39) |
S38R |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,314,195 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8g17 |
A |
G |
9: 38,930,261 (GRCm39) |
I192T |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,406,747 (GRCm39) |
T333A |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,284,137 (GRCm39) |
I565F |
possibly damaging |
Het |
| Ppef2 |
A |
G |
5: 92,378,383 (GRCm39) |
V604A |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,119,598 (GRCm39) |
I323S |
possibly damaging |
Het |
| Prmt1 |
A |
G |
7: 44,626,526 (GRCm39) |
|
probably null |
Het |
| Rel |
A |
G |
11: 23,692,684 (GRCm39) |
S450P |
probably benign |
Het |
| Rpap2 |
A |
C |
5: 107,745,661 (GRCm39) |
D3A |
probably damaging |
Het |
| Shisa9 |
T |
C |
16: 11,802,772 (GRCm39) |
F110L |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,784 (GRCm39) |
|
probably null |
Het |
| Slx4 |
A |
T |
16: 3,798,021 (GRCm39) |
F1454L |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,430 (GRCm39) |
V1198D |
possibly damaging |
Het |
| Supt5 |
T |
C |
7: 28,015,600 (GRCm39) |
Y879C |
probably damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,833 (GRCm39) |
M568T |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,429,472 (GRCm39) |
H698R |
possibly damaging |
Het |
| Trappc9 |
T |
C |
15: 72,797,379 (GRCm39) |
N803D |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,182,606 (GRCm39) |
R157S |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,131,025 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,874 (GRCm39) |
S178G |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,543,058 (GRCm39) |
R34Q |
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 |
|
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'- AGGTATTGCTTATGAGATGAGGCTC -3'
(R):5'- ACACTGCATAGCCTCTTCTGG -3'
Sequencing Primer
(F):5'- GAGTTCCTTCAGAAATAGGACCTAGC -3'
(R):5'- GCATAGCCTCTTCTGGTCTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation