Incidental Mutation 'R3748:Daam1'
| ID |
309938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daam1
|
| Ensembl Gene |
ENSMUSG00000034574 |
| Gene Name |
dishevelled associated activator of morphogenesis 1 |
| Synonyms |
1700066F09Rik, 2310028E21Rik |
| MMRRC Submission |
040733-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
71877852-72039107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72017940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 716
(D716E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085299]
[ENSMUST00000221317]
[ENSMUST00000223272]
|
| AlphaFold |
Q8BPM0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085299
AA Change: D725E
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: D725E
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
45 |
232 |
4.99e-67 |
SMART |
|
Drf_FH3
|
235 |
433 |
1.92e-77 |
SMART |
|
SCOP:d1eq1a_
|
442 |
522 |
4e-3 |
SMART |
|
Blast:Drf_FH3
|
459 |
519 |
1e-9 |
BLAST |
|
SCOP:d1jvr__
|
532 |
565 |
5e-3 |
SMART |
|
FH2
|
600 |
1060 |
9.99e-110 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221317
AA Change: D716E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223272
AA Change: D725E
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1317 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a gene trap allele show reduced fetal size, partial embryonic and neonatal lethality, altered cytoskeletal structure, cardiac defects including ventricular noncompaction, double outlet right ventricles and ventricular septal defects, and impaired cell adhesion and wound healing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,422 (GRCm39) |
|
probably benign |
Het |
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abca13 |
T |
C |
11: 9,266,119 (GRCm39) |
|
probably benign |
Het |
| Acaca |
A |
G |
11: 84,202,235 (GRCm39) |
|
probably null |
Het |
| Adam2 |
C |
T |
14: 66,297,361 (GRCm39) |
V182I |
probably benign |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Cfap68 |
A |
G |
9: 50,677,050 (GRCm39) |
C14R |
probably benign |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
| Cmss1 |
T |
C |
16: 57,122,635 (GRCm39) |
E253G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,956,071 (GRCm39) |
N3379H |
probably damaging |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
| Golgb1 |
G |
C |
16: 36,739,274 (GRCm39) |
D2538H |
probably benign |
Het |
| Hoxc12 |
A |
G |
15: 102,846,813 (GRCm39) |
E235G |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,132 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nrp1 |
T |
C |
8: 129,184,461 (GRCm39) |
W369R |
probably damaging |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Or13a19 |
T |
C |
7: 139,903,041 (GRCm39) |
L143P |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,733,442 (GRCm39) |
T149A |
probably benign |
Het |
| Tnip3 |
C |
T |
6: 65,591,747 (GRCm39) |
L249F |
probably damaging |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,207,351 (GRCm39) |
I97V |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly damaging |
Het |
|
| Other mutations in Daam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Daam1
|
APN |
12 |
71,988,993 (GRCm39) |
missense |
unknown |
|
|
IGL00323:Daam1
|
APN |
12 |
72,005,517 (GRCm39) |
splice site |
probably benign |
|
|
IGL00885:Daam1
|
APN |
12 |
71,990,865 (GRCm39) |
missense |
unknown |
|
|
IGL01768:Daam1
|
APN |
12 |
72,036,659 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02189:Daam1
|
APN |
12 |
71,993,059 (GRCm39) |
missense |
unknown |
|
|
IGL02237:Daam1
|
APN |
12 |
72,029,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02486:Daam1
|
APN |
12 |
71,993,919 (GRCm39) |
splice site |
probably benign |
|
|
IGL02561:Daam1
|
APN |
12 |
71,993,290 (GRCm39) |
missense |
unknown |
|
|
IGL02699:Daam1
|
APN |
12 |
72,035,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02977:Daam1
|
APN |
12 |
71,990,946 (GRCm39) |
missense |
unknown |
|
|
R0390:Daam1
|
UTSW |
12 |
72,022,078 (GRCm39) |
splice site |
probably benign |
|
|
R0492:Daam1
|
UTSW |
12 |
71,991,154 (GRCm39) |
missense |
unknown |
|
|
R0780:Daam1
|
UTSW |
12 |
71,993,824 (GRCm39) |
missense |
unknown |
|
|
R0973:Daam1
|
UTSW |
12 |
71,962,558 (GRCm39) |
missense |
unknown |
|
|
R0973:Daam1
|
UTSW |
12 |
71,962,558 (GRCm39) |
missense |
unknown |
|
|
R0974:Daam1
|
UTSW |
12 |
71,962,558 (GRCm39) |
missense |
unknown |
|
|
R1264:Daam1
|
UTSW |
12 |
72,022,085 (GRCm39) |
splice site |
probably benign |
|
|
R1462:Daam1
|
UTSW |
12 |
71,990,916 (GRCm39) |
missense |
unknown |
|
|
R1462:Daam1
|
UTSW |
12 |
71,990,916 (GRCm39) |
missense |
unknown |
|
|
R1510:Daam1
|
UTSW |
12 |
72,024,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Daam1
|
UTSW |
12 |
71,998,692 (GRCm39) |
missense |
unknown |
|
|
R1688:Daam1
|
UTSW |
12 |
71,993,820 (GRCm39) |
missense |
unknown |
|
|
R1713:Daam1
|
UTSW |
12 |
71,942,656 (GRCm39) |
missense |
unknown |
|
|
R1957:Daam1
|
UTSW |
12 |
72,029,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1974:Daam1
|
UTSW |
12 |
72,035,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2217:Daam1
|
UTSW |
12 |
72,036,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Daam1
|
UTSW |
12 |
72,021,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Daam1
|
UTSW |
12 |
72,021,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Daam1
|
UTSW |
12 |
71,993,872 (GRCm39) |
missense |
unknown |
|
|
R3749:Daam1
|
UTSW |
12 |
72,017,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4635:Daam1
|
UTSW |
12 |
72,005,518 (GRCm39) |
splice site |
probably null |
|
|
R4862:Daam1
|
UTSW |
12 |
71,988,981 (GRCm39) |
missense |
unknown |
|
|
R5033:Daam1
|
UTSW |
12 |
71,993,294 (GRCm39) |
missense |
unknown |
|
|
R5180:Daam1
|
UTSW |
12 |
71,993,899 (GRCm39) |
missense |
unknown |
|
|
R5202:Daam1
|
UTSW |
12 |
71,991,048 (GRCm39) |
missense |
unknown |
|
|
R5254:Daam1
|
UTSW |
12 |
71,993,350 (GRCm39) |
missense |
unknown |
|
|
R5358:Daam1
|
UTSW |
12 |
71,999,233 (GRCm39) |
nonsense |
probably null |
|
|
R5413:Daam1
|
UTSW |
12 |
71,993,066 (GRCm39) |
missense |
unknown |
|
|
R5733:Daam1
|
UTSW |
12 |
71,992,272 (GRCm39) |
missense |
unknown |
|
|
R5752:Daam1
|
UTSW |
12 |
71,993,320 (GRCm39) |
missense |
unknown |
|
|
R5891:Daam1
|
UTSW |
12 |
71,990,923 (GRCm39) |
missense |
unknown |
|
|
R6111:Daam1
|
UTSW |
12 |
71,989,038 (GRCm39) |
missense |
unknown |
|
|
R6182:Daam1
|
UTSW |
12 |
72,006,661 (GRCm39) |
nonsense |
probably null |
|
|
R6251:Daam1
|
UTSW |
12 |
72,035,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Daam1
|
UTSW |
12 |
72,035,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Daam1
|
UTSW |
12 |
71,993,025 (GRCm39) |
missense |
unknown |
|
|
R6379:Daam1
|
UTSW |
12 |
71,998,712 (GRCm39) |
missense |
unknown |
|
|
R6776:Daam1
|
UTSW |
12 |
72,036,582 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7167:Daam1
|
UTSW |
12 |
72,035,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7223:Daam1
|
UTSW |
12 |
72,035,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Daam1
|
UTSW |
12 |
72,035,713 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7467:Daam1
|
UTSW |
12 |
72,032,580 (GRCm39) |
nonsense |
probably null |
|
|
R7709:Daam1
|
UTSW |
12 |
72,024,423 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7715:Daam1
|
UTSW |
12 |
72,035,675 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8157:Daam1
|
UTSW |
12 |
71,999,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Daam1
|
UTSW |
12 |
71,942,602 (GRCm39) |
missense |
unknown |
|
|
R8297:Daam1
|
UTSW |
12 |
71,998,689 (GRCm39) |
missense |
unknown |
|
|
R8963:Daam1
|
UTSW |
12 |
71,992,018 (GRCm39) |
missense |
unknown |
|
|
R9283:Daam1
|
UTSW |
12 |
72,035,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Daam1
|
UTSW |
12 |
72,006,604 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9563:Daam1
|
UTSW |
12 |
71,992,251 (GRCm39) |
missense |
unknown |
|
|
R9696:Daam1
|
UTSW |
12 |
71,991,147 (GRCm39) |
missense |
unknown |
|
|
R9762:Daam1
|
UTSW |
12 |
71,990,855 (GRCm39) |
missense |
unknown |
|
|
R9803:Daam1
|
UTSW |
12 |
71,990,922 (GRCm39) |
missense |
unknown |
|
|
X0019:Daam1
|
UTSW |
12 |
72,032,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAAGCCGTTTCAAAATCC -3'
(R):5'- ATTTGACAACCTGTGACATTCC -3'
Sequencing Primer
(F):5'- TGCCGAGATTTTGAGAAAAACC -3'
(R):5'- CTCAACTATCTTTCTGAGGAACAATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation