Mutagenetix > Incidental Mutation

Incidental Mutation 'R7522:Hoxb3'

582737

Institutional Source

Beutler Lab

Gene Symbol

Hoxb3

Ensembl Gene

ENSMUSG00000048763

Gene Name

homeobox B3

Synonyms

Hox-2.7

MMRRC Submission

045594-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R7522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96214152-96238756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96235507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 145 (S145C)

Ref Sequence

ENSEMBL: ENSMUSP00000053426 (fasta)

Gene Model

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

AlphaFold

P09026

Predicted Effect

probably damaging
Transcript: ENSMUST00000055334
AA Change: S145C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053426
Gene: ENSMUSG00000048763
AA Change: S145C

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: S145C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091476
Gene: ENSMUSG00000048763
AA Change: S145C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030014E15Rik	G	T	1: 82,902,949 (GRCm39)	C82F	unknown	Het
Adam21	G	C	12: 81,605,722 (GRCm39)	T680R	possibly damaging	Het
Adgrf4	A	C	17: 42,980,675 (GRCm39)	Y137D	probably benign	Het
Ago3	T	C	4: 126,257,600 (GRCm39)	K477R	probably benign	Het
Ahnak	T	A	19: 8,979,686 (GRCm39)	D323E	probably benign	Het
Amph	A	G	13: 19,270,715 (GRCm39)	D108G	probably damaging	Het
Ankrd10	A	T	8: 11,682,910 (GRCm39)	C106S	probably damaging	Het
Bmp5	A	T	9: 75,683,384 (GRCm39)	T4S	probably benign	Het
Brix1	G	A	15: 10,476,676 (GRCm39)	R267C	probably damaging	Het
Calcrl	G	A	2: 84,203,708 (GRCm39)	S24L	probably benign	Het
Ccdc40	T	G	11: 119,123,047 (GRCm39)	I213R	possibly damaging	Het
Cd300lg	A	G	11: 101,945,028 (GRCm39)	I413V	probably benign	Het
Cdh3	G	A	8: 107,268,005 (GRCm39)	D347N	probably damaging	Het
Clcn3	T	C	8: 61,394,446 (GRCm39)	T55A	probably benign	Het
Cnga4	A	G	7: 105,055,195 (GRCm39)	T260A	probably damaging	Het
Cpne8	G	T	15: 90,486,022 (GRCm39)	P147Q	probably benign	Het
Cpsf6	A	G	10: 117,203,734 (GRCm39)	Y74H	unknown	Het
Cryl1	A	T	14: 57,513,428 (GRCm39)	S264R	probably benign	Het
Cyp39a1	C	T	17: 43,978,370 (GRCm39)		probably benign	Het
Cyp4f39	T	C	17: 32,705,946 (GRCm39)	S346P	probably damaging	Het
Cyria	A	G	12: 12,408,057 (GRCm39)	T28A	possibly damaging	Het
Ddhd1	G	A	14: 45,895,104 (GRCm39)	A122V	possibly damaging	Het
Dnmt1	C	A	9: 20,831,498 (GRCm39)	C662F	probably damaging	Het
E2f6	G	A	12: 16,872,125 (GRCm39)	G190S	probably benign	Het
Esp34	A	T	17: 38,870,432 (GRCm39)	I109F	possibly damaging	Het
Espl1	A	T	15: 102,213,486 (GRCm39)	D604V	probably damaging	Het
Exo1	T	C	1: 175,728,870 (GRCm39)	C645R	probably benign	Het
Fah	A	G	7: 84,246,282 (GRCm39)	V189A	probably benign	Het
Fam184b	A	C	5: 45,688,093 (GRCm39)	Y939D	probably damaging	Het
Fchsd2	T	A	7: 100,908,829 (GRCm39)	L410*	probably null	Het
Gak	A	T	5: 108,739,065 (GRCm39)	I665N	possibly damaging	Het
Galnt9	A	G	5: 110,743,705 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,306,103 (GRCm39)	R165G	probably benign	Het
Hexd	T	C	11: 121,108,923 (GRCm39)	V214A	possibly damaging	Het
Il18	A	G	9: 50,486,640 (GRCm39)	Y23C	probably damaging	Het
Itgav	A	T	2: 83,632,373 (GRCm39)	I954F	probably benign	Het
Kcna4	A	G	2: 107,126,600 (GRCm39)	R445G	probably damaging	Het
Kyat3	T	A	3: 142,440,305 (GRCm39)	L343Q	probably damaging	Het
Lgals4	A	T	7: 28,537,117 (GRCm39)	D139V	possibly damaging	Het
Lrp3	C	T	7: 34,903,755 (GRCm39)	G197D	probably damaging	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k4	T	C	17: 12,480,219 (GRCm39)	Q661R	probably benign	Het
Marcks	A	C	10: 37,012,577 (GRCm39)	F153V	unknown	Het
Mocs1	T	C	17: 49,742,292 (GRCm39)		probably null	Het
Naa60	A	G	16: 3,719,768 (GRCm39)	T232A	probably benign	Het
Oosp1	A	T	19: 11,666,065 (GRCm39)	I75N	probably benign	Het
Opn3	A	G	1: 175,493,189 (GRCm39)	V125A	probably benign	Het
Or2ag18	A	G	7: 106,404,994 (GRCm39)	V225A	probably damaging	Het
Or2f1	T	A	6: 42,721,568 (GRCm39)	I199N	probably damaging	Het
Or4c102	A	G	2: 88,423,005 (GRCm39)	T286A	possibly damaging	Het
Or7g27	T	A	9: 19,250,294 (GRCm39)	C179*	probably null	Het
Palb2	T	C	7: 121,712,501 (GRCm39)	T947A	probably damaging	Het
Pde5a	C	T	3: 122,634,648 (GRCm39)	R730*	probably null	Het
Plcl1	T	C	1: 55,735,523 (GRCm39)	I288T	probably benign	Het
Plxnb2	A	G	15: 89,045,977 (GRCm39)	I966T	probably benign	Het
Prkcz	T	C	4: 155,355,742 (GRCm39)	E400G	probably damaging	Het
Prpf8	A	G	11: 75,400,102 (GRCm39)	D2332G	possibly damaging	Het
Ptgds	T	G	2: 25,357,920 (GRCm39)	T154P	probably benign	Het
Rel	T	C	11: 23,720,676 (GRCm39)		probably null	Het
Rxylt1	A	G	10: 121,917,344 (GRCm39)	W390R	probably damaging	Het
Serpinb1c	T	A	13: 33,066,200 (GRCm39)	K248N	probably benign	Het
Shkbp1	A	C	7: 27,046,583 (GRCm39)	W394G	possibly damaging	Het
Slc47a2	A	G	11: 61,193,076 (GRCm39)	V559A	probably benign	Het
Sox6	A	T	7: 115,400,813 (GRCm39)	F10I	probably damaging	Het
Stkld1	T	C	2: 26,837,259 (GRCm39)	V303A	probably benign	Het
Styk1	T	A	6: 131,289,803 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,654,762 (GRCm39)	T1574A	possibly damaging	Het
Tkt	A	T	14: 30,290,180 (GRCm39)	I270F	possibly damaging	Het
Trak1	A	G	9: 121,271,777 (GRCm39)	E166G	probably damaging	Het
Tsc2	A	T	17: 24,849,939 (GRCm39)	I58N	probably damaging	Het
Uhmk1	T	A	1: 170,042,809 (GRCm39)	M1L	probably benign	Het
Usp50	T	C	2: 126,625,146 (GRCm39)	Y21C	probably damaging	Het
Vmn1r180	C	G	7: 23,652,685 (GRCm39)	P283A	probably damaging	Het
Vmn1r83	A	G	7: 12,055,505 (GRCm39)	M184T	possibly damaging	Het
Vmn2r109	A	G	17: 20,774,665 (GRCm39)	I230T	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
R0621:Hoxb3	UTSW	11	96,236,789 (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
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'- CTCAATGGCAGCTGCATGAG -3'
(R):5'- TCAGAGGTCATCAGGTAGTGAG -3'

Sequencing Primer
(F):5'- AGCTGCATGAGGCCAGG -3'
(R):5'- TCATCAGGTAGTGAGAGGTAGC -3'

Posted On

2019-10-17