Mutagenetix > Incidental Mutation

Incidental Mutation 'R0621:Hoxb3'

58685

Institutional Source

Beutler Lab

Gene Symbol

Hoxb3

Ensembl Gene

ENSMUSG00000048763

Gene Name

homeobox B3

Synonyms

Hox-2.7

MMRRC Submission

038810-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R0621 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96214152-96238756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96236789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 289 (Y289F)

Ref Sequence

ENSEMBL: ENSMUSP00000091476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055334] [ENSMUST00000093944] [ENSMUST00000123091]

AlphaFold

P09026

Predicted Effect

probably damaging
Transcript: ENSMUST00000055334
AA Change: Y289F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053426
Gene: ENSMUSG00000048763
AA Change: Y289F

Domain	Start	End	E-Value	Type
low complexity region	76	121	N/A	INTRINSIC
low complexity region	154	181	N/A	INTRINSIC
HOX	191	253	5.44e-28	SMART
low complexity region	256	274	N/A	INTRINSIC
Pfam:DUF4074	367	431	9.4e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000093944
AA Change: Y289F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091476
Gene: ENSMUSG00000048763
AA Change: Y289F

Domain	Start	End	E-Value	Type
low complexity region	76	121	N/A	INTRINSIC
low complexity region	154	181	N/A	INTRINSIC
HOX	191	253	5.44e-28	SMART
low complexity region	256	274	N/A	INTRINSIC
Pfam:DUF4074	368	431	1.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182030

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

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 Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial neonatal lethality and mild and low penetrance defects in the formation of the anterior arch of the atlas and the IXth cranial nerve. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,399,898 (GRCm39)	D33G	probably damaging	Het
Adgre1	T	A	17: 57,748,359 (GRCm39)	S520T	probably damaging	Het
Afg2a	C	T	3: 37,486,178 (GRCm39)	T300I	probably benign	Het
Ankrd40	A	G	11: 94,230,433 (GRCm39)		probably null	Het
Aph1b	A	T	9: 66,686,616 (GRCm39)	I177K	possibly damaging	Het
Armc3	A	T	2: 19,300,204 (GRCm39)	N579I	probably damaging	Het
Atxn7l1	T	C	12: 33,376,099 (GRCm39)	V131A	probably benign	Het
C130073F10Rik	A	G	4: 101,747,992 (GRCm39)	Y61H	probably damaging	Het
C1s2	A	T	6: 124,608,071 (GRCm39)	L214Q	probably damaging	Het
Caprin2	A	T	6: 148,760,176 (GRCm39)	S425T	possibly damaging	Het
Cdc42ep4	G	A	11: 113,619,522 (GRCm39)	R290C	probably damaging	Het
Cenpf	T	C	1: 189,404,825 (GRCm39)	T352A	probably benign	Het
Col6a4	A	T	9: 105,943,990 (GRCm39)	F1161L	probably damaging	Het
Dctn2	T	C	10: 127,113,809 (GRCm39)		probably null	Het
Ddx24	T	C	12: 103,391,817 (GRCm39)		probably benign	Het
Dsg1c	C	A	18: 20,412,752 (GRCm39)	A591D	possibly damaging	Het
Efnb3	T	C	11: 69,446,798 (GRCm39)	D304G	probably damaging	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Eya3	T	G	4: 132,422,113 (GRCm39)	D275E	probably benign	Het
Fam81a	G	T	9: 70,000,929 (GRCm39)	Q272K	probably benign	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Gm9637	G	A	14: 19,402,011 (GRCm38)		noncoding transcript	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gtf2h2	A	T	13: 100,625,433 (GRCm39)	L61Q	probably damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Kctd3	C	T	1: 188,713,538 (GRCm39)	R399Q	probably damaging	Het
Kif26b	C	G	1: 178,743,218 (GRCm39)	P1105A	probably benign	Het
Klhl30	C	T	1: 91,285,585 (GRCm39)	T369M	probably damaging	Het
Lipo2	C	T	19: 33,708,339 (GRCm39)	G225D	probably damaging	Het
Macf1	T	C	4: 123,274,327 (GRCm39)	K6350E	probably damaging	Het
Myh13	A	C	11: 67,232,058 (GRCm39)	N446T	probably damaging	Het
Nos1ap	T	C	1: 170,146,150 (GRCm39)	D468G	probably damaging	Het
Or10j2	C	T	1: 173,098,242 (GRCm39)	P167S	possibly damaging	Het
Or11h7	G	A	14: 50,891,419 (GRCm39)	G242R	possibly damaging	Het
Or4a77	C	A	2: 89,487,459 (GRCm39)	E109*	probably null	Het
Pde3a	T	C	6: 141,195,725 (GRCm39)	L137P	probably damaging	Het
Ppm1f	G	A	16: 16,733,172 (GRCm39)	R233Q	probably benign	Het
Rtf2	C	A	2: 172,308,216 (GRCm39)	A205E	possibly damaging	Het
Sh2d5	T	C	4: 137,985,629 (GRCm39)	F359S	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc39a11	G	A	11: 113,354,905 (GRCm39)	P108L	probably benign	Het
Slc6a5	G	A	7: 49,567,113 (GRCm39)		probably null	Het
Snph	C	T	2: 151,435,642 (GRCm39)	V360M	probably damaging	Het
Snx29	A	G	16: 11,223,651 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,759,408 (GRCm39)		probably null	Het
St8sia6	T	A	2: 13,662,093 (GRCm39)	N246I	probably damaging	Het
Thy1	T	A	9: 43,958,030 (GRCm39)	F53I	probably damaging	Het
Tle3	T	A	9: 61,317,387 (GRCm39)	Y421*	probably null	Het
Ttc21b	C	T	2: 66,056,355 (GRCm39)	R677Q	probably benign	Het
Vmn2r107	A	T	17: 20,595,252 (GRCm39)	I602F	probably benign	Het
Wdr17	C	A	8: 55,096,226 (GRCm39)	G1016C	probably benign	Het
Wdr62	T	C	7: 29,953,486 (GRCm39)	E182G	possibly damaging	Het
Zfp597	A	G	16: 3,684,228 (GRCm39)	I176T	probably benign	Het

Other mutations in Hoxb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02219:Hoxb3	APN	11	96,236,986 (GRCm39)	missense	probably damaging	1.00
R0082:Hoxb3	UTSW	11	96,235,097 (GRCm39)	missense	probably damaging	1.00
R0701:Hoxb3	UTSW	11	96,237,074 (GRCm39)	nonsense	probably null
R2205:Hoxb3	UTSW	11	96,236,494 (GRCm39)	missense	probably benign
R4093:Hoxb3	UTSW	11	96,236,926 (GRCm39)	missense	probably damaging	0.99
R4620:Hoxb3	UTSW	11	96,236,599 (GRCm39)	missense	probably damaging	0.96
R5453:Hoxb3	UTSW	11	96,235,480 (GRCm39)	missense	probably damaging	0.99
R6180:Hoxb3	UTSW	11	96,236,929 (GRCm39)	missense	probably benign	0.03
R7522:Hoxb3	UTSW	11	96,235,507 (GRCm39)	missense	probably damaging	1.00
R7714:Hoxb3	UTSW	11	96,236,606 (GRCm39)	missense	probably damaging	0.98
R8427:Hoxb3	UTSW	11	96,236,421 (GRCm39)	unclassified	probably benign
R8427:Hoxb3	UTSW	11	96,236,415 (GRCm39)	unclassified	probably benign
R8438:Hoxb3	UTSW	11	96,236,609 (GRCm39)	missense	probably benign	0.01
R9004:Hoxb3	UTSW	11	96,237,137 (GRCm39)	missense	possibly damaging	0.70
R9622:Hoxb3	UTSW	11	96,235,420 (GRCm39)	nonsense	probably null
U24488:Hoxb3	UTSW	11	96,235,456 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- CCAGAACCGTCGCATGAAGTACAAG -3'
(R):5'- TCACAGGGTCCATGATGCTGGTTG -3'

Sequencing Primer
(F):5'- TCGCATGAAGTACAAGAAAGACC -3'
(R):5'- TGTAGTCCAGGTTCCCCGAG -3'

Posted On

2013-07-11