Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03017:Hoxd3'

407938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hoxd3

Ensembl Gene

ENSMUSG00000079277

Gene Name

homeobox D3

Synonyms

Hox-5.5, Hox-4.1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

IGL03017

Quality Score

Status

Chromosome

Chromosomal Location

74542337-74578615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74577050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 310 (M310K)

Ref Sequence

ENSEMBL: ENSMUSP00000107614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047830] [ENSMUST00000053932] [ENSMUST00000111982] [ENSMUST00000111983] [ENSMUST00000140666] [ENSMUST00000144544]

AlphaFold

P09027

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047830
AA Change: M310K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044809
Gene: ENSMUSG00000079277
AA Change: M310K

Domain	Start	End	E-Value	Type
low complexity region	93	135	N/A	INTRINSIC
low complexity region	141	159	N/A	INTRINSIC
HOX	195	257	5.83e-28	SMART
Pfam:DUF4074	369	431	8.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053932

SMART Domains

Protein: ENSMUSP00000051355
Gene: ENSMUSG00000100642

Domain	Start	End	E-Value	Type
low complexity region	93	135	N/A	INTRINSIC
low complexity region	141	159	N/A	INTRINSIC
HOX	195	257	5.83e-28	SMART
Pfam:DUF4074	370	431	1.4e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100000

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111982
AA Change: M310K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107613
Gene: ENSMUSG00000079277
AA Change: M310K

Domain	Start	End	E-Value	Type
low complexity region	93	135	N/A	INTRINSIC
low complexity region	141	159	N/A	INTRINSIC
HOX	195	257	5.83e-28	SMART
Pfam:DUF4074	369	431	8.9e-35	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111983
AA Change: M310K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107614
Gene: ENSMUSG00000079277
AA Change: M310K

Domain	Start	End	E-Value	Type
low complexity region	93	135	N/A	INTRINSIC
low complexity region	141	159	N/A	INTRINSIC
HOX	195	257	5.83e-28	SMART
Pfam:DUF4074	369	431	8.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140666

SMART Domains

Protein: ENSMUSP00000134616
Gene: ENSMUSG00000079277

Domain	Start	End	E-Value	Type
HOX	35	97	5.83e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230540

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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show partial postnatal lethality, asymmetric rib-sternum attachment, and anterior transformations of the cervical vertebrae I (atlas) and II (axis). Mice homozygous for a different knock-out allele lack the anteriorarch of the atlas and the dens of the axis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	C	A	3: 87,624,367 (GRCm39)	Y519*	probably null	Het
Arhgef26	T	A	3: 62,355,702 (GRCm39)	M758K	possibly damaging	Het
Ccdc187	T	C	2: 26,170,978 (GRCm39)	Y500C	probably benign	Het
Cul5	A	T	9: 53,555,785 (GRCm39)		probably null	Het
Dnah5	A	C	15: 28,340,471 (GRCm39)	I2293L	possibly damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Gpr45	C	T	1: 43,071,516 (GRCm39)	T53M	possibly damaging	Het
Mtr	A	G	13: 12,262,777 (GRCm39)		probably null	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo1d	C	T	11: 80,492,452 (GRCm39)	V768I	probably benign	Het
Nlrp4c	T	C	7: 6,087,679 (GRCm39)	C771R	probably benign	Het
Or1e30	C	A	11: 73,678,344 (GRCm39)	H193Q	probably benign	Het
Patj	G	A	4: 98,353,264 (GRCm39)		probably benign	Het
Pkp3	C	A	7: 140,663,283 (GRCm39)	A376D	probably benign	Het
Pkp4	T	C	2: 59,096,769 (GRCm39)	V57A	probably benign	Het
Poteg	A	T	8: 27,952,069 (GRCm39)	K232N	probably benign	Het
Psat1	G	T	19: 15,894,499 (GRCm39)	A168E	possibly damaging	Het
Rassf8	T	A	6: 145,762,924 (GRCm39)		probably null	Het
Slc37a3	T	A	6: 39,326,315 (GRCm39)	I281L	probably benign	Het
Sncaip	A	T	18: 53,028,009 (GRCm39)	H466L	possibly damaging	Het
Ttn	T	C	2: 76,698,646 (GRCm39)	T30A	possibly damaging	Het
Ttn	T	C	2: 76,617,460 (GRCm39)	E16337G	probably damaging	Het
Usp13	G	A	3: 32,969,861 (GRCm39)	M662I	possibly damaging	Het
Vmn2r111	A	T	17: 22,789,839 (GRCm39)	M389K	probably damaging	Het
Vmn2r39	A	C	7: 9,017,940 (GRCm39)	Y799D	probably damaging	Het

Other mutations in Hoxd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02636:Hoxd3	APN	2	74,577,298 (GRCm39)	missense	probably benign	0.32
candide	UTSW	2	74,574,420 (GRCm39)	missense	probably damaging	1.00
compressed	UTSW	2	74,574,650 (GRCm39)	nonsense	probably null
R1977:Hoxd3	UTSW	2	74,574,620 (GRCm39)	missense	possibly damaging	0.94
R2079:Hoxd3	UTSW	2	74,574,610 (GRCm39)	missense	probably damaging	0.97
R2124:Hoxd3	UTSW	2	74,574,578 (GRCm39)	missense	possibly damaging	0.92
R5143:Hoxd3	UTSW	2	74,576,716 (GRCm39)	missense	probably damaging	1.00
R5250:Hoxd3	UTSW	2	74,574,650 (GRCm39)	nonsense	probably null
R5256:Hoxd3	UTSW	2	74,577,211 (GRCm39)	missense	possibly damaging	0.88
R5943:Hoxd3	UTSW	2	74,577,173 (GRCm39)	missense	probably benign	0.00
R6300:Hoxd3	UTSW	2	74,574,420 (GRCm39)	missense	probably damaging	1.00
R7362:Hoxd3	UTSW	2	74,574,563 (GRCm39)	missense	possibly damaging	0.59
R9203:Hoxd3	UTSW	2	74,576,744 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02