Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01081:Dlx6'

51264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlx6

Ensembl Gene

ENSMUSG00000029754

Gene Name

distal-less homeobox 6

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01081

Quality Score

Status

Chromosome

Chromosomal Location

6863334-6868568 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 6867068 bp

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]

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: 26,990,594	L158P	probably damaging	Het
Aco1	A	G	4: 40,197,576	Q860R	probably benign	Het
Actl11	A	T	9: 107,928,982	Q168L	possibly damaging	Het
Adam26b	T	C	8: 43,519,938	I676V	probably benign	Het
Aldoart2	A	C	12: 55,566,135	I282L	probably benign	Het
Capns1	G	T	7: 30,190,140	S211R	probably benign	Het
Cps1	T	C	1: 67,206,824	V1158A	probably damaging	Het
Cryl1	C	T	14: 57,286,364		probably null	Het
Cxcr5	A	G	9: 44,514,310		probably benign	Het
Dcaf13	A	G	15: 39,118,806	K56E	probably damaging	Het
Dsg2	C	T	18: 20,589,942		probably benign	Het
Dync1li1	T	A	9: 114,720,597	S412T	possibly damaging	Het
Ebf3	C	A	7: 137,225,896		probably benign	Het
Fads3	T	C	19: 10,053,002	I168T	probably benign	Het
Gm10295	G	A	7: 71,350,548	P95S	unknown	Het
Gm43638	T	C	5: 87,486,596	T51A	probably damaging	Het
Gm5114	G	A	7: 39,410,647		probably benign	Het
Gucy2c	G	A	6: 136,702,739	T974M	probably damaging	Het
Ighv1-19-1	T	C	12: 114,708,638		probably benign	Het
Kri1	A	T	9: 21,280,427	L173Q	probably damaging	Het
Lztfl1	T	C	9: 123,702,273	D210G	probably benign	Het
Morc2a	T	A	11: 3,688,149	N958K	probably damaging	Het
Msl3l2	G	A	10: 56,115,925	A249T	probably benign	Het
Nlrp4a	A	G	7: 26,449,829	E287G	probably benign	Het
Nlrp9a	A	T	7: 26,558,094	N290I	possibly damaging	Het
Olfr1040	C	T	2: 86,146,611	G41D	probably benign	Het
Olfr1367	T	G	13: 21,347,015	L29R	probably damaging	Het
Olfr1509	A	G	14: 52,451,027	T205A	probably benign	Het
Pcsk7	A	G	9: 45,928,707	D731G	probably benign	Het
Plppr5	T	A	3: 117,686,649		probably benign	Het
Podxl	T	C	6: 31,528,704	T135A	possibly damaging	Het
Pole	T	G	5: 110,337,240	C407G	possibly damaging	Het
Prl	C	A	13: 27,065,041	N224K	possibly damaging	Het
Prnp	A	T	2: 131,936,420		probably benign	Het
Proser2	A	G	2: 6,100,338	*472R	probably null	Het
Rhag	T	C	17: 40,811,287	S38P	possibly damaging	Het
Rnf146	T	C	10: 29,347,860	D10G	probably damaging	Het
Rps3a1	T	C	3: 86,141,778	D29G	probably benign	Het
Sv2a	A	T	3: 96,189,696	I446F	probably benign	Het
Tbc1d30	C	A	10: 121,267,414	R571L	probably damaging	Het
Tfrc	T	A	16: 32,624,828		probably null	Het
Tnfaip1	G	A	11: 78,528,303	P156S	probably damaging	Het
Vmn1r226	T	C	17: 20,687,904	S133P	probably damaging	Het
Wnt9b	C	T	11: 103,732,010	R189K	probably damaging	Het
Ythdc2	A	G	18: 44,850,659	H564R	probably benign	Het
Zfp442	C	A	2: 150,409,347	E211*	probably null	Het

Other mutations in Dlx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Dlx6	APN	6	6865143	missense	probably damaging	1.00
IGL03034:Dlx6	APN	6	6863807	missense	probably benign	0.45
IGL03309:Dlx6	APN	6	6867289	missense	possibly damaging	0.77
R0848:Dlx6	UTSW	6	6863665	nonsense	probably null
R1004:Dlx6	UTSW	6	6863665	nonsense	probably null
R1694:Dlx6	UTSW	6	6867173	missense	probably damaging	1.00
R1753:Dlx6	UTSW	6	6863665	nonsense	probably null
R2076:Dlx6	UTSW	6	6867098	missense	probably benign	0.00
R2293:Dlx6	UTSW	6	6867246	missense	probably damaging	1.00
R4488:Dlx6	UTSW	6	6867207	missense	probably damaging	0.99
R4574:Dlx6	UTSW	6	6865305	intron	probably benign
R4942:Dlx6	UTSW	6	6863468	missense	probably benign	0.28
R5102:Dlx6	UTSW	6	6865180	frame shift	probably null
R5103:Dlx6	UTSW	6	6865180	frame shift	probably null
R5104:Dlx6	UTSW	6	6865180	frame shift	probably null
R5105:Dlx6	UTSW	6	6865180	frame shift	probably null
R5736:Dlx6	UTSW	6	6863660	missense	probably damaging	0.97
R7577:Dlx6	UTSW	6	6863423	missense	probably damaging	1.00
R7995:Dlx6	UTSW	6	6867277	missense	probably damaging	1.00
R8406:Dlx6	UTSW	6	6863779	missense	probably benign	0.13

Posted On

2013-06-21