Incidental Mutation 'IGL00562:Dlx6'
| ID |
277764 |
| 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 # |
IGL00562
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
6863334-6867970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6865143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 172
(R172W)
|
| 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 damaging
Transcript: ENSMUST00000031768
AA Change: R33W
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754
AA Change: R33W
| 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 damaging
Transcript: ENSMUST00000160937
AA Change: R172W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: R172W
| 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 damaging
Transcript: ENSMUST00000171311
AA Change: R172W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: R172W
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
| AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
| Chaf1b |
T |
C |
16: 93,697,079 (GRCm39) |
|
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
| Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,299,041 (GRCm39) |
S3211P |
probably benign |
Het |
| Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Kcna3 |
A |
G |
3: 106,944,046 (GRCm39) |
D103G |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,942,853 (GRCm39) |
V19A |
probably benign |
Het |
| Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
| Ptger4 |
A |
T |
15: 5,272,614 (GRCm39) |
S2T |
probably benign |
Het |
| Saxo1 |
C |
T |
4: 86,363,809 (GRCm39) |
E225K |
probably damaging |
Het |
| Sftpb |
G |
T |
6: 72,286,845 (GRCm39) |
A228S |
probably benign |
Het |
| Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,900,918 (GRCm39) |
N50S |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,351,532 (GRCm39) |
S854T |
probably benign |
Het |
| Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
| Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
| Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,922,496 (GRCm39) |
S239G |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dlx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Dlx6
|
APN |
6 |
6,867,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03034:Dlx6
|
APN |
6 |
6,863,807 (GRCm39) |
missense |
probably benign |
0.45 |
|
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 |
2015-04-16 |
Incidental Mutation