Incidental Mutation 'IGL03034:Dlx6'
| ID |
408586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dlx6
|
| Ensembl Gene |
ENSMUSG00000029754 |
| Gene Name |
distal-less homeobox 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03034
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
6863334-6867970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 6863807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 143
(Q143P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031768]
[ENSMUST00000160937]
[ENSMUST00000171311]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031768
AA Change: Q4P
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754
AA Change: Q4P
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
32 |
94 |
7.65e-23 |
SMART |
|
low complexity region
|
102 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160937
AA Change: Q143P
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: Q143P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
102 |
N/A |
INTRINSIC |
|
HOX
|
171 |
233 |
7.65e-23 |
SMART |
|
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171311
AA Change: Q143P
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: Q143P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
102 |
N/A |
INTRINSIC |
|
HOX
|
171 |
233 |
7.65e-23 |
SMART |
|
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178206
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations at both Dlx5 and Dlx6 exhibit bilateral ectrodactyly, homeotic transformation of the lower jaw into an upper jaw, and perinatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
C |
T |
11: 81,780,908 (GRCm39) |
|
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,985,509 (GRCm39) |
T269A |
probably benign |
Het |
| Asgr2 |
G |
T |
11: 69,989,089 (GRCm39) |
G178W |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,946,320 (GRCm39) |
|
probably benign |
Het |
| Cnmd |
C |
T |
14: 79,879,368 (GRCm39) |
A257T |
probably benign |
Het |
| Cox7a1 |
A |
G |
7: 29,884,693 (GRCm39) |
|
probably benign |
Het |
| Cpox |
C |
T |
16: 58,495,718 (GRCm39) |
T345M |
probably damaging |
Het |
| Crisp1 |
T |
C |
17: 40,618,619 (GRCm39) |
T81A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,708,214 (GRCm39) |
R501* |
probably null |
Het |
| Dpp10 |
T |
A |
1: 123,269,348 (GRCm39) |
Y687F |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,709,894 (GRCm39) |
V228A |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
| Fbxo6 |
G |
A |
4: 148,230,579 (GRCm39) |
Q228* |
probably null |
Het |
| Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
| Kctd9 |
T |
A |
14: 67,971,728 (GRCm39) |
S268T |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,715,846 (GRCm39) |
V749M |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,938,809 (GRCm39) |
D94G |
probably damaging |
Het |
| Mllt10 |
T |
G |
2: 18,069,847 (GRCm39) |
M1R |
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,651,193 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,161,321 (GRCm39) |
I549N |
possibly damaging |
Het |
| Myocd |
T |
C |
11: 65,109,511 (GRCm39) |
T87A |
probably benign |
Het |
| Nr3c2 |
T |
G |
8: 77,914,267 (GRCm39) |
Y824* |
probably null |
Het |
| Omg |
T |
A |
11: 79,392,947 (GRCm39) |
T304S |
possibly damaging |
Het |
| Or4b1 |
A |
G |
2: 89,980,177 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or52p2 |
G |
A |
7: 102,237,147 (GRCm39) |
H268Y |
probably benign |
Het |
| Or5an1b |
T |
C |
19: 12,300,018 (GRCm39) |
T58A |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,879,121 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,527 (GRCm39) |
I144F |
probably benign |
Het |
| Pde3a |
G |
A |
6: 141,438,126 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,469,252 (GRCm39) |
K129E |
probably damaging |
Het |
| Phka2 |
G |
T |
X: 159,360,546 (GRCm39) |
E858* |
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,815,081 (GRCm39) |
T548A |
possibly damaging |
Het |
| Prr14l |
G |
A |
5: 32,984,782 (GRCm39) |
A1571V |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 117,080,879 (GRCm39) |
|
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,103 (GRCm39) |
E107G |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,885,392 (GRCm39) |
D620G |
probably benign |
Het |
| Traf3ip2 |
A |
T |
10: 39,502,215 (GRCm39) |
K121I |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,945,640 (GRCm39) |
S734P |
probably damaging |
Het |
| Zfp953 |
C |
T |
13: 67,491,526 (GRCm39) |
C142Y |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,521,142 (GRCm39) |
C204S |
probably benign |
Het |
|
| Other mutations in Dlx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Dlx6
|
APN |
6 |
6,865,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01081:Dlx6
|
APN |
6 |
6,867,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Dlx6
|
APN |
6 |
6,867,289 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0848:Dlx6
|
UTSW |
6 |
6,863,665 (GRCm39) |
nonsense |
probably null |
|
|
R1004:Dlx6
|
UTSW |
6 |
6,863,665 (GRCm39) |
nonsense |
probably null |
|
|
R1694:Dlx6
|
UTSW |
6 |
6,867,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Dlx6
|
UTSW |
6 |
6,863,665 (GRCm39) |
nonsense |
probably null |
|
|
R2076:Dlx6
|
UTSW |
6 |
6,867,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2293:Dlx6
|
UTSW |
6 |
6,867,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4488:Dlx6
|
UTSW |
6 |
6,867,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4574:Dlx6
|
UTSW |
6 |
6,865,305 (GRCm39) |
intron |
probably benign |
|
|
R4942:Dlx6
|
UTSW |
6 |
6,863,468 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5102:Dlx6
|
UTSW |
6 |
6,865,180 (GRCm39) |
frame shift |
probably null |
|
|
R5103:Dlx6
|
UTSW |
6 |
6,865,180 (GRCm39) |
frame shift |
probably null |
|
|
R5104:Dlx6
|
UTSW |
6 |
6,865,180 (GRCm39) |
frame shift |
probably null |
|
|
R5105:Dlx6
|
UTSW |
6 |
6,865,180 (GRCm39) |
frame shift |
probably null |
|
|
R5736:Dlx6
|
UTSW |
6 |
6,863,660 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7577:Dlx6
|
UTSW |
6 |
6,863,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Dlx6
|
UTSW |
6 |
6,867,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Dlx6
|
UTSW |
6 |
6,863,779 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9182:Dlx6
|
UTSW |
6 |
6,863,456 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9401:Dlx6
|
UTSW |
6 |
6,863,581 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9518:Dlx6
|
UTSW |
6 |
6,863,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation