Incidental Mutation 'R5736:Dlx6'
ID |
451698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dlx6
|
Ensembl Gene |
ENSMUSG00000029754 |
Gene Name |
distal-less homeobox 6 |
Synonyms |
|
MMRRC Submission |
043194-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5736 (G1)
|
Quality Score |
140 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
6863334-6867970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6863660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 94
(H94L)
|
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
|
SMART Domains |
Protein: ENSMUSP00000031768 Gene: ENSMUSG00000029754
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: H94L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124204 Gene: ENSMUSG00000029754 AA Change: H94L
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: H94L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128585 Gene: ENSMUSG00000029754 AA Change: H94L
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 93.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630095N17Rik |
G |
A |
1: 75,197,211 (GRCm39) |
|
probably benign |
Het |
Akt1 |
G |
A |
12: 112,623,284 (GRCm39) |
R367C |
probably benign |
Het |
Arl8a |
T |
A |
1: 135,082,458 (GRCm39) |
S150T |
probably benign |
Het |
B020004C17Rik |
A |
T |
14: 57,254,823 (GRCm39) |
T216S |
possibly damaging |
Het |
Casz1 |
G |
A |
4: 149,013,867 (GRCm39) |
V144I |
probably benign |
Het |
Cd274 |
G |
T |
19: 29,359,940 (GRCm39) |
L248F |
probably benign |
Het |
Crisp4 |
T |
C |
1: 18,185,939 (GRCm39) |
T266A |
probably benign |
Het |
Exoc1 |
A |
G |
5: 76,685,615 (GRCm39) |
N109S |
possibly damaging |
Het |
Grik2 |
T |
C |
10: 49,280,506 (GRCm39) |
E128G |
probably damaging |
Het |
Hs3st4 |
G |
A |
7: 123,996,662 (GRCm39) |
E443K |
probably damaging |
Het |
Ihh |
T |
C |
1: 74,985,286 (GRCm39) |
T400A |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,352,664 (GRCm39) |
C806* |
probably null |
Het |
Lrrn1 |
T |
C |
6: 107,544,345 (GRCm39) |
S48P |
probably damaging |
Het |
Lsm11 |
T |
C |
11: 45,835,594 (GRCm39) |
N49S |
possibly damaging |
Het |
Map3k11 |
C |
T |
19: 5,746,739 (GRCm39) |
A507V |
probably damaging |
Het |
Mill2 |
A |
T |
7: 18,592,174 (GRCm39) |
Q265L |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,268,416 (GRCm39) |
T368A |
probably benign |
Het |
Or4s2b |
T |
C |
2: 88,508,985 (GRCm39) |
M255T |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Peg10 |
T |
A |
6: 4,754,423 (GRCm39) |
L68Q |
probably benign |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Prkag2 |
A |
T |
5: 25,083,720 (GRCm39) |
Y88N |
probably damaging |
Het |
Prmt5 |
A |
C |
14: 54,752,297 (GRCm39) |
D166E |
probably null |
Het |
Robo4 |
A |
T |
9: 37,316,093 (GRCm39) |
T366S |
possibly damaging |
Het |
Samd3 |
T |
C |
10: 26,146,070 (GRCm39) |
I365T |
probably damaging |
Het |
Sdf2l1 |
A |
T |
16: 16,949,571 (GRCm39) |
C92S |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,016,753 (GRCm39) |
F327L |
probably damaging |
Het |
Slc17a6 |
G |
A |
7: 51,294,841 (GRCm39) |
V183I |
possibly damaging |
Het |
Slc6a11 |
T |
C |
6: 114,139,123 (GRCm39) |
S244P |
probably damaging |
Het |
Slc6a5 |
A |
G |
7: 49,609,102 (GRCm39) |
D769G |
probably benign |
Het |
Slc7a14 |
A |
T |
3: 31,278,059 (GRCm39) |
D515E |
probably benign |
Het |
Slco2a1 |
A |
T |
9: 102,945,029 (GRCm39) |
S135C |
probably benign |
Het |
Spidr |
A |
T |
16: 15,715,162 (GRCm39) |
D801E |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,041,821 (GRCm39) |
|
probably null |
Het |
Tmem71 |
C |
T |
15: 66,404,496 (GRCm39) |
V264I |
probably benign |
Het |
Zfp563 |
G |
T |
17: 33,323,960 (GRCm39) |
R185L |
possibly damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,973 (GRCm39) |
P129S |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCGCCTTCATGGAGTTC -3'
(R):5'- TGATAAATGCGGGTCCCAGC -3'
Sequencing Primer
(F):5'- CCTTCATGGAGTTCGGGCAG -3'
(R):5'- CCTGGAGGCTCAATGGGAAC -3'
|
Posted On |
2017-01-03 |