Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Dlx6'

229150

Institutional Source

Beutler Lab

Gene Symbol

Dlx6

Ensembl Gene

ENSMUSG00000029754

Gene Name

distal-less homeobox 6

Synonyms

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6863334-6867970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6867098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 234 (S234G)

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
AA Change: S95G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031768
Gene: ENSMUSG00000029754
AA Change: S95G

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 benign
Transcript: ENSMUST00000160937
AA Change: S234G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124204
Gene: ENSMUSG00000029754
AA Change: S234G

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 benign
Transcript: ENSMUST00000171311
AA Change: S234G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128585
Gene: ENSMUSG00000029754
AA Change: S234G

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

Meta Mutation Damage Score

0.0725

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,197,177 (GRCm39)	R160G	probably damaging	Het
Cct7	A	T	6: 85,445,122 (GRCm39)	I458F	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593 (GRCm39)		probably null	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Impdh1	G	A	6: 29,205,162 (GRCm39)	A213V	probably damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rad52	C	T	6: 119,888,040 (GRCm39)	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc30a3	G	T	5: 31,244,165 (GRCm39)	Y323*	probably null	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Uba3	G	T	6: 97,176,241 (GRCm39)	D88E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	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
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'- TCTAGTAGGCCTAGAGTGAAGG -3'
(R):5'- CATCTGTGGTCTCTGCATGG -3'

Sequencing Primer
(F):5'- AAGGGGCTTCTTGGAATGGTAATG -3'
(R):5'- GGTCTCTGCATGGTGTCC -3'

Posted On

2014-09-17