Incidental Mutation 'R1004:Dlx6'
| ID |
226024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlx6
|
| Ensembl Gene |
ENSMUSG00000029754 |
| Gene Name |
distal-less homeobox 6 |
| Synonyms |
|
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
42 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
6863334-6867970 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 6863665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 96
(Q96*)
|
| 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 null
Transcript: ENSMUST00000160937
AA Change: Q96*
|
| SMART Domains |
Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: Q96*
| 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 null
Transcript: ENSMUST00000171311
AA Change: Q96*
|
| SMART Domains |
Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: Q96*
| 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
|
| Meta Mutation Damage Score |
0.9711 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,276,487 (GRCm39) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,276 (GRCm39) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,658,509 (GRCm39) |
Q75L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,688,493 (GRCm39) |
Y345F |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,579,757 (GRCm39) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,937 (GRCm39) |
|
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,169 (GRCm39) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGACCATGACTACGATGGCTGAC -3'
(R):5'- AGGCTCAATGGGAACCACAAGC -3'
Sequencing Primer
(F):5'- acagcagcagcagcaac -3'
(R):5'- ccggcgTGGAGGAAGTG -3'
|
| Posted On |
2014-09-08 |
Incidental Mutation