Incidental Mutation 'IGL01081:Dlx6'
| ID |
51264 |
| 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 # |
IGL01081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
6863334-6867970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 6867068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 85
(S85A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031768
(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: S85A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754
AA Change: S85A
| 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 |
probably damaging
Transcript: ENSMUST00000160937
AA Change: S224A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: S224A
| 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: S224A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: S224A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184182
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
A |
G |
9: 26,901,890 (GRCm39) |
L158P |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,197,576 (GRCm39) |
Q860R |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,181 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Adam26b |
T |
C |
8: 43,972,975 (GRCm39) |
I676V |
probably benign |
Het |
| Aldoart2 |
A |
C |
12: 55,612,920 (GRCm39) |
I282L |
probably benign |
Het |
| Capns1 |
G |
T |
7: 29,889,565 (GRCm39) |
S211R |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,245,983 (GRCm39) |
V1158A |
probably damaging |
Het |
| Cryl1 |
C |
T |
14: 57,523,821 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
A |
G |
9: 44,425,607 (GRCm39) |
|
probably benign |
Het |
| Dcaf13 |
A |
G |
15: 38,982,201 (GRCm39) |
K56E |
probably damaging |
Het |
| Dsg2 |
C |
T |
18: 20,722,999 (GRCm39) |
|
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,549,665 (GRCm39) |
S412T |
possibly damaging |
Het |
| Ebf3 |
C |
A |
7: 136,827,625 (GRCm39) |
|
probably benign |
Het |
| Fads3 |
T |
C |
19: 10,030,366 (GRCm39) |
I168T |
probably benign |
Het |
| Gm10295 |
G |
A |
7: 71,000,296 (GRCm39) |
P95S |
unknown |
Het |
| Gm43638 |
T |
C |
5: 87,634,455 (GRCm39) |
T51A |
probably damaging |
Het |
| Gm5114 |
G |
A |
7: 39,060,071 (GRCm39) |
|
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,737 (GRCm39) |
T974M |
probably damaging |
Het |
| Ighv1-19-1 |
T |
C |
12: 114,672,258 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,191,723 (GRCm39) |
L173Q |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,531,338 (GRCm39) |
D210G |
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,638,149 (GRCm39) |
N958K |
probably damaging |
Het |
| Msl3l2 |
G |
A |
10: 55,992,021 (GRCm39) |
A249T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,254 (GRCm39) |
E287G |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,519 (GRCm39) |
N290I |
possibly damaging |
Het |
| Or2b28 |
T |
G |
13: 21,531,185 (GRCm39) |
L29R |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,688,484 (GRCm39) |
T205A |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,955 (GRCm39) |
G41D |
probably benign |
Het |
| Pcsk7 |
A |
G |
9: 45,840,005 (GRCm39) |
D731G |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,480,298 (GRCm39) |
|
probably benign |
Het |
| Podxl |
T |
C |
6: 31,505,639 (GRCm39) |
T135A |
possibly damaging |
Het |
| Pole |
T |
G |
5: 110,485,106 (GRCm39) |
C407G |
possibly damaging |
Het |
| Prl |
C |
A |
13: 27,249,024 (GRCm39) |
N224K |
possibly damaging |
Het |
| Prnp |
A |
T |
2: 131,778,340 (GRCm39) |
|
probably benign |
Het |
| Proser2 |
A |
G |
2: 6,105,149 (GRCm39) |
*472R |
probably null |
Het |
| Rhag |
T |
C |
17: 41,122,178 (GRCm39) |
S38P |
possibly damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,856 (GRCm39) |
D10G |
probably damaging |
Het |
| Rps3a1 |
T |
C |
3: 86,049,085 (GRCm39) |
D29G |
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,097,012 (GRCm39) |
I446F |
probably benign |
Het |
| Tbc1d30 |
C |
A |
10: 121,103,319 (GRCm39) |
R571L |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,443,646 (GRCm39) |
|
probably null |
Het |
| Tnfaip1 |
G |
A |
11: 78,419,129 (GRCm39) |
P156S |
probably damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,166 (GRCm39) |
S133P |
probably damaging |
Het |
| Wnt9b |
C |
T |
11: 103,622,836 (GRCm39) |
R189K |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,983,726 (GRCm39) |
H564R |
probably benign |
Het |
| Zfp442 |
C |
A |
2: 150,251,267 (GRCm39) |
E211* |
probably null |
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 |
|
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 |
2013-06-21 |
Incidental Mutation