Incidental Mutation 'R0938:Dlx2'
| ID |
81224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlx2
|
| Ensembl Gene |
ENSMUSG00000023391 |
| Gene Name |
distal-less homeobox 2 |
| Synonyms |
DII A, Tes-1, Dlx-2 |
| MMRRC Submission |
039077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R0938 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
71373752-71377095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71375012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 284
(W284L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024159]
|
| AlphaFold |
P40764 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024159
AA Change: W284L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024159
Gene: ENSMUSG00000023391
AA Change: W284L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
49 |
N/A |
INTRINSIC |
|
Pfam:DLL_N
|
54 |
135 |
6.1e-21 |
PFAM |
|
HOX
|
155 |
217 |
7.35e-25 |
SMART |
|
low complexity region
|
227 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134249
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 88.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show morphogenetic abnormalities in first and second branchial arch-derived proximal skeletal and soft tissue structures; in double mutants with a Dlx1 null allele, maxillary molar teeth are missing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcan |
A |
G |
3: 87,900,461 (GRCm39) |
S591P |
possibly damaging |
Het |
| Chfr |
T |
C |
5: 110,311,924 (GRCm39) |
L579P |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,464,865 (GRCm39) |
T439I |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,116,795 (GRCm39) |
S165P |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,002,658 (GRCm39) |
N3803K |
probably benign |
Het |
| Dynlrb2 |
A |
C |
8: 117,241,707 (GRCm39) |
|
probably null |
Het |
| Fhl2 |
A |
G |
1: 43,180,866 (GRCm39) |
I108T |
possibly damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galnt18 |
T |
C |
7: 111,119,206 (GRCm39) |
I438M |
possibly damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Ifi204 |
A |
T |
1: 173,579,311 (GRCm39) |
N511K |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,389,476 (GRCm39) |
Y559* |
probably null |
Het |
| Mob1b |
T |
A |
5: 88,897,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Oosp2 |
G |
A |
19: 11,628,904 (GRCm39) |
Q66* |
probably null |
Het |
| P4ha2 |
A |
G |
11: 54,010,148 (GRCm39) |
K302E |
possibly damaging |
Het |
| Pard6g |
C |
T |
18: 80,123,259 (GRCm39) |
R98* |
probably null |
Het |
| Pkdrej |
G |
A |
15: 85,702,364 (GRCm39) |
P1191S |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Smim29 |
T |
C |
17: 27,783,368 (GRCm39) |
K43R |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,202,304 (GRCm39) |
L708R |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,961,023 (GRCm39) |
V1204I |
probably benign |
Het |
| Zfp865 |
G |
T |
7: 5,034,403 (GRCm39) |
C796F |
possibly damaging |
Het |
| Zmiz2 |
A |
T |
11: 6,347,185 (GRCm39) |
M237L |
probably benign |
Het |
|
| Other mutations in Dlx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0834:Dlx2
|
UTSW |
2 |
71,375,859 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1925:Dlx2
|
UTSW |
2 |
71,376,522 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2443:Dlx2
|
UTSW |
2 |
71,376,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2885:Dlx2
|
UTSW |
2 |
71,375,808 (GRCm39) |
nonsense |
probably null |
|
|
R5059:Dlx2
|
UTSW |
2 |
71,376,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5554:Dlx2
|
UTSW |
2 |
71,375,805 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6702:Dlx2
|
UTSW |
2 |
71,376,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Dlx2
|
UTSW |
2 |
71,376,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7261:Dlx2
|
UTSW |
2 |
71,375,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8439:Dlx2
|
UTSW |
2 |
71,375,882 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8971:Dlx2
|
UTSW |
2 |
71,376,716 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9674:Dlx2
|
UTSW |
2 |
71,376,496 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTCAAGTCTCAGACGCTGTCC -3'
(R):5'- CCGCCGATCCAAGTTCAAGAAGATG -3'
Sequencing Primer
(F):5'- TCAGACGCTGTCCACTCG -3'
(R):5'- AGCGGCGAGATACCCAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation