Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00550:Hoxd11'

7160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hoxd11

Ensembl Gene

ENSMUSG00000042499

Gene Name

homeobox D11

Synonyms

Hox-5.5, E230017H14Rik, Hox-5.4, Hox-4.6

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

IGL00550

Quality Score

Status

Chromosome

Chromosomal Location

74509902-74517360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74514385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 305 (D305G)

Ref Sequence

ENSEMBL: ENSMUSP00000122582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000142312]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000048086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136302

Predicted Effect

probably damaging
Transcript: ENSMUST00000142312
AA Change: D305G

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

SMART Domains

Protein: ENSMUSP00000122582
Gene: ENSMUSG00000042499
AA Change: D305G

Domain	Start	End	E-Value	Type
Pfam:DUF3528	26	80	5.4e-25	PFAM
Pfam:DUF3528	103	198	7.1e-21	PFAM
low complexity region	224	257	N/A	INTRINSIC
HOX	264	326	1.58e-24	SMART

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 belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations of sacral vertebrae, malformations of distal limbs, and reduced fertility in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg13	A	T	2: 91,522,804 (GRCm39)	M80K	probably damaging	Het
Ccr1	T	C	9: 123,763,673 (GRCm39)	T286A	probably damaging	Het
Nup85	A	G	11: 115,472,582 (GRCm39)	K213E	probably damaging	Het
Samd9l	G	T	6: 3,374,594 (GRCm39)	T889K	probably benign	Het
Tas2r138	A	G	6: 40,589,520 (GRCm39)	I242T	probably benign	Het
Zfp984	C	T	4: 147,839,343 (GRCm39)	G503S	probably benign	Het

Other mutations in Hoxd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1202:Hoxd11	UTSW	2	74,512,921 (GRCm39)	missense	possibly damaging	0.92
R3895:Hoxd11	UTSW	2	74,513,136 (GRCm39)	missense	probably damaging	0.99
R3935:Hoxd11	UTSW	2	74,514,376 (GRCm39)	missense	probably benign	0.28
R5386:Hoxd11	UTSW	2	74,513,163 (GRCm39)	nonsense	probably null
R7322:Hoxd11	UTSW	2	74,514,355 (GRCm39)	missense	probably damaging	1.00
R7476:Hoxd11	UTSW	2	74,514,459 (GRCm39)	missense	probably damaging	0.96
R8060:Hoxd11	UTSW	2	74,512,720 (GRCm39)	start gained	probably benign
R8188:Hoxd11	UTSW	2	74,514,298 (GRCm39)	missense	probably damaging	1.00
R8315:Hoxd11	UTSW	2	74,513,466 (GRCm39)	missense	probably benign	0.00
R8697:Hoxd11	UTSW	2	74,513,013 (GRCm39)	missense	unknown
R8875:Hoxd11	UTSW	2	74,513,365 (GRCm39)	missense	probably benign	0.00
R9093:Hoxd11	UTSW	2	74,514,482 (GRCm39)	makesense	probably null
R9102:Hoxd11	UTSW	2	74,513,274 (GRCm39)	missense	possibly damaging	0.93
R9570:Hoxd11	UTSW	2	74,512,812 (GRCm39)	missense	possibly damaging	0.86
Z1177:Hoxd11	UTSW	2	74,512,759 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20