Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02738:Hoxb9'

305754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hoxb9

Ensembl Gene

ENSMUSG00000020875

Gene Name

homeobox B9

Synonyms

Hox-2.5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

96162283-96167421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96165554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 208 (M208L)

Ref Sequence

ENSEMBL: ENSMUSP00000000010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000010] [ENSMUST00000174042]

AlphaFold

P20615

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000010
AA Change: M208L

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000010
Gene: ENSMUSG00000020875
AA Change: M208L

Domain	Start	End	E-Value	Type
Pfam:Hox9_act	1	172	2.1e-59	PFAM
HOX	185	247	2.68e-27	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000174042
AA Change: Y128F

SMART Domains

Protein: ENSMUSP00000133919
Gene: ENSMUSG00000020875
AA Change: Y128F

Domain	Start	End	E-Value	Type
Pfam:Hox9_act	1	96	5e-42	PFAM

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 is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations affect developing thoracic skeletal elements. Homozygotes exhibit rib fusion, abnormal rib attachment to the sternum, and reduced intercostal segments of the sternum. Homozygotes or heterozygotes may show an eighth rib attached to the sternum. [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
Acss1	A	T	2: 150,466,792 (GRCm39)		probably benign	Het
Akr1c21	A	T	13: 4,630,300 (GRCm39)	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,490,102 (GRCm39)	K6I	probably benign	Het
Angel1	G	A	12: 86,752,060 (GRCm39)	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,663,320 (GRCm39)	*988K	probably null	Het
Arnt	T	A	3: 95,402,631 (GRCm39)		probably null	Het
Atp1a3	T	A	7: 24,689,901 (GRCm39)	D519V	possibly damaging	Het
Bdp1	C	A	13: 100,187,861 (GRCm39)	A1575S	probably benign	Het
Bglap	G	A	3: 88,291,715 (GRCm39)	T3I	unknown	Het
Brca2	C	T	5: 150,490,500 (GRCm39)	P3054L	probably damaging	Het
Btn2a2	C	A	13: 23,662,976 (GRCm39)	E316*	probably null	Het
C1qtnf9	C	T	14: 61,017,388 (GRCm39)	T306I	probably benign	Het
Caprin2	T	C	6: 148,744,360 (GRCm39)	T1022A	probably damaging	Het
Cd109	T	C	9: 78,598,581 (GRCm39)	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,875,076 (GRCm39)	L186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd6	A	T	2: 160,807,618 (GRCm39)	S1865R	probably benign	Het
Chrna2	T	C	14: 66,386,889 (GRCm39)	V345A	probably benign	Het
Dnah1	T	G	14: 31,014,597 (GRCm39)	E1756A	probably benign	Het
Dnah3	C	T	7: 119,564,720 (GRCm39)	A2637T	probably benign	Het
Ern2	A	G	7: 121,782,122 (GRCm39)	F80S	probably damaging	Het
Ero1b	A	G	13: 12,619,322 (GRCm39)	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,048,211 (GRCm39)	S30A	probably benign	Het
Fer1l4	A	G	2: 155,887,648 (GRCm39)	L516P	probably benign	Het
Garin2	T	A	12: 78,780,989 (GRCm39)		probably benign	Het
Hexim2	T	C	11: 103,029,103 (GRCm39)	S52P	probably damaging	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lcn10	G	A	2: 25,574,032 (GRCm39)		probably benign	Het
Letm2	A	G	8: 26,076,789 (GRCm39)	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,685,441 (GRCm39)	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,885 (GRCm39)	A325D	probably benign	Het
Mboat4	T	C	8: 34,582,258 (GRCm39)	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301 (GRCm39)		probably benign	Het
Naip2	T	A	13: 100,325,685 (GRCm39)	R74S	probably benign	Het
Neb	G	T	2: 52,133,862 (GRCm39)	Q3374K	probably damaging	Het
Nup210l	A	G	3: 90,044,157 (GRCm39)	E486G	possibly damaging	Het
Or4b13	A	G	2: 90,082,699 (GRCm39)	I211T	possibly damaging	Het
Or4k51	A	C	2: 111,584,699 (GRCm39)	Y35S	probably damaging	Het
Or5m12	A	G	2: 85,735,293 (GRCm39)	V35A	probably benign	Het
Or6c69	A	T	10: 129,747,200 (GRCm39)		probably benign	Het
Pde8a	A	C	7: 80,976,090 (GRCm39)	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812 (GRCm39)	Q460*	probably null	Het
Podnl1	A	G	8: 84,858,824 (GRCm39)	T550A	probably benign	Het
Ptpn22	A	G	3: 103,781,382 (GRCm39)		probably benign	Het
Pycr3	A	T	15: 75,790,565 (GRCm39)	I98N	probably damaging	Het
Rtn4r	A	G	16: 17,969,052 (GRCm39)	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc2a4	A	G	11: 69,836,940 (GRCm39)	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,365,348 (GRCm39)	L145Q	probably damaging	Het
Speer2	A	T	16: 69,658,600 (GRCm39)	S22T	probably benign	Het
Sugp2	G	T	8: 70,696,449 (GRCm39)	G474V	probably damaging	Het
Syt3	C	T	7: 44,035,447 (GRCm39)	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,691,159 (GRCm39)	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,931,337 (GRCm39)	V2083A	probably benign	Het
Thra	A	T	11: 98,655,185 (GRCm39)	H355L	probably benign	Het
Tmem35b	C	T	4: 127,019,981 (GRCm39)	Q34*	probably null	Het
Unk	G	T	11: 115,947,017 (GRCm39)	G537V	probably damaging	Het
Usp32	T	A	11: 84,974,632 (GRCm39)	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,990,290 (GRCm39)	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,821,630 (GRCm39)	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,780,520 (GRCm39)	I503V	probably benign	Het
Vwa2	G	A	19: 56,886,361 (GRCm39)	G143R	possibly damaging	Het

Other mutations in Hoxb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Hoxb9	APN	11	96,165,614 (GRCm39)	nonsense	probably null
IGL02251:Hoxb9	APN	11	96,165,651 (GRCm39)	missense	probably damaging	1.00
R1467:Hoxb9	UTSW	11	96,162,764 (GRCm39)	missense	probably benign
R1467:Hoxb9	UTSW	11	96,162,764 (GRCm39)	missense	probably benign
R1958:Hoxb9	UTSW	11	96,162,880 (GRCm39)	missense	possibly damaging	0.88
R4419:Hoxb9	UTSW	11	96,162,807 (GRCm39)	missense	probably benign	0.00
R4420:Hoxb9	UTSW	11	96,162,807 (GRCm39)	missense	probably benign	0.00
R4666:Hoxb9	UTSW	11	96,165,657 (GRCm39)	missense	possibly damaging	0.94
R7627:Hoxb9	UTSW	11	96,165,521 (GRCm39)	missense	probably damaging	0.99
R7821:Hoxb9	UTSW	11	96,162,537 (GRCm39)	missense	probably damaging	1.00
R7965:Hoxb9	UTSW	11	96,165,464 (GRCm39)	missense	probably benign	0.38
R8878:Hoxb9	UTSW	11	96,165,557 (GRCm39)	missense	probably damaging	1.00
R9259:Hoxb9	UTSW	11	96,162,762 (GRCm39)	missense	probably damaging	1.00
R9502:Hoxb9	UTSW	11	96,162,544 (GRCm39)	missense	probably benign	0.21

Posted On

2015-04-16