Mutagenetix > Incidental Mutation

Incidental Mutation 'R6950:Hoxb2'

541226

Institutional Source

Beutler Lab

Gene Symbol

Hoxb2

Ensembl Gene

ENSMUSG00000075588

Gene Name

homeobox B2

Synonyms

Hox-2.8, Hoxbes2

MMRRC Submission

045062-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.617) question?

Stock #

R6950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96242458-96244846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96242727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 31 (T31A)

Ref Sequence

ENSEMBL: ENSMUSP00000098092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093944] [ENSMUST00000100523]

AlphaFold

P0C1T1

Predicted Effect

probably benign
Transcript: ENSMUST00000093944

SMART Domains

Protein: ENSMUSP00000091476
Gene: ENSMUSG00000048763

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: ENSMUST00000100523
AA Change: T31A

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098092
Gene: ENSMUSG00000075588
AA Change: T31A

Domain	Start	End	E-Value	Type
low complexity region	76	94	N/A	INTRINSIC
low complexity region	99	118	N/A	INTRINSIC
HOX	141	203	2.54e-28	SMART
low complexity region	204	213	N/A	INTRINSIC
low complexity region	317	330	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

98% (59/60)

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 pancreatic cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele die neonatally with altered segmental identity and abnormal migration of motor neurons in the hindbrain. Mice homozygous for null alleles can exhibit partial postnatal lethality, narrow face, runting, absent facial motor nuclei, and facial nerve/muscle defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,229,480 (GRCm39)	V404D	probably damaging	Het
Adcy2	A	G	13: 69,036,184 (GRCm39)	M159T	possibly damaging	Het
Agtpbp1	T	C	13: 59,598,080 (GRCm39)	K674R	probably benign	Het
Atxn7	C	A	14: 14,095,511 (GRCm38)	P403H	probably damaging	Het
Cav3	C	T	6: 112,449,171 (GRCm39)	T63I	probably damaging	Het
Ccr6	T	C	17: 8,475,898 (GRCm39)	*368Q	probably null	Het
Cdh8	A	T	8: 99,757,395 (GRCm39)	N734K	probably benign	Het
Ces5a	G	T	8: 94,257,402 (GRCm39)	N134K	probably benign	Het
Cisd3	T	G	11: 97,576,986 (GRCm39)		probably null	Het
Cyp4f39	T	G	17: 32,711,280 (GRCm39)	C476G	probably damaging	Het
Dffb	A	T	4: 154,054,549 (GRCm39)	M180K	probably benign	Het
Dock4	A	G	12: 40,783,313 (GRCm39)	E749G	possibly damaging	Het
Eogt	A	G	6: 97,111,343 (GRCm39)	F173L	possibly damaging	Het
Ephb1	T	A	9: 102,072,108 (GRCm39)	T224S	probably benign	Het
Fam114a1	A	T	5: 65,137,322 (GRCm39)	E88D	possibly damaging	Het
Fbn2	A	C	18: 58,168,993 (GRCm39)	M2262R	probably null	Het
Fsip2	A	G	2: 82,816,332 (GRCm39)	I4022V	probably benign	Het
Gapvd1	A	G	2: 34,574,257 (GRCm39)	V1301A	probably benign	Het
Gch1	A	T	14: 47,426,723 (GRCm39)	M1K	probably null	Het
Hes1	T	C	16: 29,886,089 (GRCm39)	F231S	probably damaging	Het
Ifngr1	T	A	10: 19,483,041 (GRCm39)	V265D	probably damaging	Het
Ifnl3	A	T	7: 28,222,432 (GRCm39)	I58F	probably benign	Het
Igf2r	T	C	17: 12,937,605 (GRCm39)	T561A	probably benign	Het
Igfbpl1	T	A	4: 45,815,494 (GRCm39)	H214L	probably damaging	Het
Irf8	A	G	8: 121,481,864 (GRCm39)	T318A	probably benign	Het
Kmt2d	T	C	15: 98,737,901 (GRCm39)		probably benign	Het
Lratd2	T	C	15: 60,695,563 (GRCm39)	D61G	probably benign	Het
Lrrc36	G	T	8: 106,152,021 (GRCm39)		probably null	Het
Msl2	C	T	9: 100,979,174 (GRCm39)	P516L	possibly damaging	Het
Naaladl1	A	T	19: 6,156,011 (GRCm39)	I62F	probably damaging	Het
Neto2	G	T	8: 86,397,072 (GRCm39)	P60Q	probably damaging	Het
Nipsnap3b	A	T	4: 53,015,136 (GRCm39)	H61L	possibly damaging	Het
Npb	T	C	11: 120,499,473 (GRCm39)	F47L	probably benign	Het
Nutm1	T	A	2: 112,078,904 (GRCm39)	T1004S	probably benign	Het
Or4a78	T	A	2: 89,497,895 (GRCm39)	I112F	probably benign	Het
Or4z4	A	G	19: 12,076,754 (GRCm39)	V83A	probably benign	Het
Or8c17	A	T	9: 38,179,842 (GRCm39)	N3I	probably damaging	Het
Oxr1	C	A	15: 41,683,951 (GRCm39)	A439E	probably benign	Het
Phf14	A	T	6: 12,006,854 (GRCm39)	K835N	probably damaging	Het
Prkdc	T	A	16: 15,633,850 (GRCm39)	V3518E	probably damaging	Het
Ptpru	T	A	4: 131,503,663 (GRCm39)	E1132D	probably damaging	Het
Rapgef6	T	A	11: 54,567,206 (GRCm39)	M1129K	probably benign	Het
Rgmb	T	C	17: 16,028,048 (GRCm39)	K224E	probably damaging	Het
Ryr3	T	C	2: 112,517,170 (GRCm39)	I3318V	possibly damaging	Het
Slc9a4	A	G	1: 40,642,045 (GRCm39)	Y338C	probably damaging	Het
Smg5	T	C	3: 88,256,576 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,693,514 (GRCm39)	Y1789*	probably null	Het
Tgm7	T	C	2: 120,924,128 (GRCm39)	E598G	probably damaging	Het
Tiam1	C	T	16: 89,657,092 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,790,948 (GRCm39)	N166S	probably benign	Het
Trp73	G	T	4: 154,146,510 (GRCm39)	N368K	probably benign	Het
Trpc3	C	T	3: 36,692,739 (GRCm39)	R751H	probably damaging	Het
Trpm4	C	A	7: 44,968,704 (GRCm39)	A410S	probably damaging	Het
Ube2t	T	G	1: 134,899,095 (GRCm39)		probably null	Het
Vmn2r114	C	T	17: 23,529,137 (GRCm39)	A322T	probably benign	Het
Xylt2	C	T	11: 94,558,455 (GRCm39)	R567H	probably benign	Het
Zfp119b	T	C	17: 56,246,137 (GRCm39)	K318E	probably damaging	Het
Zfp626	T	G	7: 27,518,339 (GRCm39)	L440R	probably damaging	Het
Zfp850	A	G	7: 27,689,939 (GRCm39)	S90P	possibly damaging	Het

Other mutations in Hoxb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02992:Hoxb2	APN	11	96,243,910 (GRCm39)	missense	probably damaging	1.00
R3951:Hoxb2	UTSW	11	96,244,001 (GRCm39)	missense	probably damaging	0.98
R7103:Hoxb2	UTSW	11	96,244,447 (GRCm39)	missense	possibly damaging	0.85
R7673:Hoxb2	UTSW	11	96,244,283 (GRCm39)	missense	possibly damaging	0.83
R8784:Hoxb2	UTSW	11	96,242,736 (GRCm39)	missense	possibly damaging	0.62
R9166:Hoxb2	UTSW	11	96,244,339 (GRCm39)	missense	probably damaging	0.98
R9583:Hoxb2	UTSW	11	96,242,725 (GRCm39)	missense	probably damaging	0.97
Z1177:Hoxb2	UTSW	11	96,242,815 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGCTCCATTGCATAAACCTGG -3'
(R):5'- CTTCTCTTTCATCCAGGGGAAC -3'

Sequencing Primer
(F):5'- CCACCATTGAAAGCCATG -3'
(R):5'- TTTCATCCAGGGGAACTCGGG -3'

Posted On

2018-11-28