Incidental Mutation 'R6432:Dact1'
| ID |
518600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dact1
|
| Ensembl Gene |
ENSMUSG00000044548 |
| Gene Name |
dishevelled-binding antagonist of beta-catenin 1 |
| Synonyms |
Frodo, Frd1, Frodo1, Dapper1, THYEX3 |
| MMRRC Submission |
044570-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
71356658-71366881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71365327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 703
(S703P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061273]
[ENSMUST00000150639]
|
| AlphaFold |
Q8R4A3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061273
AA Change: S666P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: S666P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dapper
|
39 |
206 |
4.1e-83 |
PFAM |
|
Pfam:Dapper
|
204 |
778 |
7.8e-184 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132822
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150639
AA Change: S703P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: S703P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dapper
|
39 |
815 |
1.4e-240 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, abnormal embryogenesis, blind-ended colons, and abnormal renal/urinary system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
T |
A |
3: 105,814,991 (GRCm39) |
L101* |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,022,534 (GRCm39) |
I71T |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,322,512 (GRCm39) |
C206R |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,411 (GRCm39) |
L606P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,639 (GRCm39) |
F574L |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,846,601 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,668,847 (GRCm39) |
E126* |
probably null |
Het |
| Cxadr |
A |
C |
16: 78,122,147 (GRCm39) |
D49A |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,178,425 (GRCm39) |
H1159Q |
possibly damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,952,399 (GRCm39) |
F697I |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Ear2 |
G |
T |
14: 44,340,660 (GRCm39) |
C106F |
probably damaging |
Het |
| Gnl2 |
A |
T |
4: 124,946,353 (GRCm39) |
I525F |
possibly damaging |
Het |
| Hsph1 |
C |
A |
5: 149,542,441 (GRCm39) |
K692N |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,664,116 (GRCm39) |
C489S |
possibly damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,254 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,751,813 (GRCm39) |
T74A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,185 (GRCm39) |
S22G |
possibly damaging |
Het |
| Ms4a12 |
A |
G |
19: 11,192,376 (GRCm39) |
*264Q |
probably null |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,955,805 (GRCm39) |
N131K |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,824 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Rbm14 |
G |
T |
19: 4,853,191 (GRCm39) |
|
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,986,617 (GRCm39) |
C320* |
probably null |
Het |
| Rnf5 |
A |
G |
17: 34,821,101 (GRCm39) |
V77A |
possibly damaging |
Het |
| Sh3pxd2a |
G |
T |
19: 47,258,366 (GRCm39) |
P418T |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,387,616 (GRCm39) |
V262F |
possibly damaging |
Het |
| Six5 |
T |
A |
7: 18,830,696 (GRCm39) |
V441E |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,037,155 (GRCm39) |
I268N |
probably benign |
Het |
| Terb1 |
G |
A |
8: 105,212,078 (GRCm39) |
T301I |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,936,891 (GRCm39) |
D2820A |
probably damaging |
Het |
| Tram2 |
C |
T |
1: 21,074,457 (GRCm39) |
E242K |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,793 (GRCm39) |
K210E |
probably damaging |
Het |
| Tulp2 |
T |
A |
7: 45,168,012 (GRCm39) |
D141E |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,205,121 (GRCm39) |
T572I |
probably benign |
Het |
| Upf2 |
C |
A |
2: 5,984,588 (GRCm39) |
A501E |
unknown |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,483 (GRCm39) |
T537A |
possibly damaging |
Het |
| Wdr11 |
T |
A |
7: 129,208,242 (GRCm39) |
D332E |
possibly damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,723 (GRCm39) |
N199S |
probably damaging |
Het |
| Zfp672 |
T |
A |
11: 58,207,758 (GRCm39) |
I188F |
possibly damaging |
Het |
|
| Other mutations in Dact1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03268:Dact1
|
APN |
12 |
71,364,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Dact1
|
UTSW |
12 |
71,365,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Dact1
|
UTSW |
12 |
71,364,349 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1669:Dact1
|
UTSW |
12 |
71,365,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Dact1
|
UTSW |
12 |
71,359,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Dact1
|
UTSW |
12 |
71,365,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4398:Dact1
|
UTSW |
12 |
71,363,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5028:Dact1
|
UTSW |
12 |
71,365,347 (GRCm39) |
nonsense |
probably null |
|
|
R5917:Dact1
|
UTSW |
12 |
71,365,456 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6473:Dact1
|
UTSW |
12 |
71,364,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6759:Dact1
|
UTSW |
12 |
71,364,911 (GRCm39) |
nonsense |
probably null |
|
|
R6823:Dact1
|
UTSW |
12 |
71,364,713 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7564:Dact1
|
UTSW |
12 |
71,365,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Dact1
|
UTSW |
12 |
71,364,688 (GRCm39) |
missense |
probably benign |
|
|
R9046:Dact1
|
UTSW |
12 |
71,365,534 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9581:Dact1
|
UTSW |
12 |
71,365,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Dact1
|
UTSW |
12 |
71,365,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Dact1
|
UTSW |
12 |
71,364,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dact1
|
UTSW |
12 |
71,356,825 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCAGACGACTCGGATAC -3'
(R):5'- AGAGTCTGGACAAACTGGGACC -3'
Sequencing Primer
(F):5'- AAGACCTCCGCCAAGGG -3'
(R):5'- CTGGACAAACTGGGACCAGATTAAAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation