Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Dlx5'

578554

Institutional Source

Beutler Lab

Gene Symbol

Dlx5

Ensembl Gene

ENSMUSG00000029755

Gene Name

distal-less homeobox 5

Synonyms

MMRRC Submission

045537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6877801-6882068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6878316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 238 (H238R)

Ref Sequence

ENSEMBL: ENSMUSP00000052559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052609] [ENSMUST00000142635]

AlphaFold

P70396

Predicted Effect

probably damaging
Transcript: ENSMUST00000052609
AA Change: H238R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052559
Gene: ENSMUSG00000029755
AA Change: H238R

Domain	Start	End	E-Value	Type
Pfam:DLL_N	32	118	1.1e-26	PFAM
HOX	137	199	4.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142635

SMART Domains

Protein: ENSMUSP00000138264
Gene: ENSMUSG00000029755

Domain	Start	End	E-Value	Type
Pfam:DLL_N	32	118	1e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants display multiple defects in craniofacial structures, including ears, nose, mandible and calvaria, and die shortly after birth, with some exhibiting exencephaly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,698 (GRCm39)	V435E	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy2	T	C	13: 68,878,399 (GRCm39)	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,310,140 (GRCm39)	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,583,452 (GRCm39)	Q309*	probably null	Het
Amy1	A	T	3: 113,363,533 (GRCm39)	C43*	probably null	Het
Bpifc	T	C	10: 85,815,198 (GRCm39)	E256G	probably benign	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Carmil3	C	T	14: 55,739,853 (GRCm39)	P980L	probably damaging	Het
Coch	T	A	12: 51,640,408 (GRCm39)	M1K	probably null	Het
Cpt2	A	T	4: 107,765,354 (GRCm39)	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094 (GRCm39)	I112V	probably benign	Het
Cul9	A	G	17: 46,831,402 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,650,374 (GRCm39)	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,769,761 (GRCm39)	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,540,026 (GRCm39)	E318G	probably damaging	Het
Dip2b	A	G	15: 100,052,038 (GRCm39)	E213G	probably benign	Het
Dnai2	A	C	11: 114,645,232 (GRCm39)	I556L	probably benign	Het
Dnmt1	C	T	9: 20,823,521 (GRCm39)	V1147M	possibly damaging	Het
Egf	G	T	3: 129,533,664 (GRCm39)	Q59K	probably benign	Het
Ermp1	A	T	19: 29,623,662 (GRCm39)	Y109*	probably null	Het
Fer1l6	T	A	15: 58,445,450 (GRCm39)	Y573*	probably null	Het
Fmnl1	T	C	11: 103,083,954 (GRCm39)	L503P	probably damaging	Het
Gnptab	T	G	10: 88,267,251 (GRCm39)	I447M	probably damaging	Het
Hgf	G	A	5: 16,783,448 (GRCm39)	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Igf2r	T	C	17: 12,929,532 (GRCm39)	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,497 (GRCm39)	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,079,593 (GRCm39)	V248A	probably damaging	Het
Krt33b	A	G	11: 99,920,389 (GRCm39)	I88T	probably damaging	Het
Lhx2	G	A	2: 38,241,858 (GRCm39)	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,217,532 (GRCm39)	G562R		Het
Myom2	A	T	8: 15,167,679 (GRCm39)	Y1088F	probably null	Het
Ncapg	T	A	5: 45,851,434 (GRCm39)		probably null	Het
Nudc	A	C	4: 133,261,714 (GRCm39)	V190G	possibly damaging	Het
Obscn	G	T	11: 59,013,686 (GRCm39)	R1054S	probably benign	Het
Or10g1	A	G	14: 52,648,168 (GRCm39)	W54R	probably benign	Het
Or10g9	A	G	9: 39,911,860 (GRCm39)	V221A	probably benign	Het
Or2d4	A	T	7: 106,543,380 (GRCm39)	V276E	probably damaging	Het
Or52h9	T	C	7: 104,202,689 (GRCm39)	S188P	possibly damaging	Het
Or56a5	T	A	7: 104,793,144 (GRCm39)	M119L	probably benign	Het
Or8j3	T	C	2: 86,028,182 (GRCm39)	M305V	probably benign	Het
Pcdh10	A	T	3: 45,338,007 (GRCm39)	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,467,602 (GRCm39)	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,878,340 (GRCm39)	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,896,480 (GRCm39)	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,339,072 (GRCm39)		probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,540,839 (GRCm39)	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,319,404 (GRCm39)	H941R	probably benign	Het
Reln	T	C	5: 22,308,433 (GRCm39)	H312R	probably damaging	Het
Rnf166	T	A	8: 123,194,726 (GRCm39)	H208L	probably damaging	Het
Spmap2	T	C	10: 79,412,549 (GRCm39)	E314G	probably damaging	Het
Timeless	T	C	10: 128,086,295 (GRCm39)	S999P	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 155,883,355 (GRCm39)	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,750,804 (GRCm39)	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,896,886 (GRCm39)	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,208,810 (GRCm39)	D427V	probably damaging	Het
Zer1	A	T	2: 30,003,449 (GRCm39)		probably benign	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Dlx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Dlx5	APN	6	6,881,762 (GRCm39)	missense	probably damaging	1.00
IGL02937:Dlx5	APN	6	6,881,755 (GRCm39)	missense	probably damaging	1.00
R0197:Dlx5	UTSW	6	6,881,619 (GRCm39)	missense	possibly damaging	0.89
R1997:Dlx5	UTSW	6	6,879,680 (GRCm39)	missense	possibly damaging	0.69
R3872:Dlx5	UTSW	6	6,878,209 (GRCm39)	missense	probably benign	0.37
R4475:Dlx5	UTSW	6	6,881,663 (GRCm39)	missense	probably damaging	1.00
R6936:Dlx5	UTSW	6	6,879,585 (GRCm39)	missense	probably damaging	1.00
R7499:Dlx5	UTSW	6	6,878,341 (GRCm39)	missense	probably benign
R7499:Dlx5	UTSW	6	6,878,340 (GRCm39)	missense	possibly damaging	0.68
R8861:Dlx5	UTSW	6	6,878,233 (GRCm39)	missense	probably benign
Z1088:Dlx5	UTSW	6	6,879,607 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTAGTCCCAAAACTGAGC -3'
(R):5'- AACCTCTGAGTGTCCCGGTAAC -3'

Sequencing Primer
(F):5'- CTGTAGTCCCAAAACTGAGCAAGAG -3'
(R):5'- GGTAACGTGTGCCTTTGTTCCC -3'

Posted On

2019-10-07