Mutagenetix > Incidental Mutation

Incidental Mutation 'R6846:Hoxa6'

534758

Institutional Source

Beutler Lab

Gene Symbol

Hoxa6

Ensembl Gene

ENSMUSG00000043219

Gene Name

homeobox A6

Synonyms

Hox-1.2

MMRRC Submission

044952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6846 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52183268-52185702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52183523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 174 (H174R)

Ref Sequence

ENSEMBL: ENSMUSP00000058755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048794] [ENSMUST00000062829] [ENSMUST00000114434] [ENSMUST00000128102]

AlphaFold

P09092

Predicted Effect

probably benign
Transcript: ENSMUST00000048794

SMART Domains

Protein: ENSMUSP00000039012
Gene: ENSMUSG00000038253

Domain	Start	End	E-Value	Type
low complexity region	65	86	N/A	INTRINSIC
low complexity region	117	134	N/A	INTRINSIC
low complexity region	146	175	N/A	INTRINSIC
HOX	195	257	1.63e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062829
AA Change: H174R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058755
Gene: ENSMUSG00000043219
AA Change: H174R

Domain	Start	End	E-Value	Type
HOX	154	216	2.43e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114434

SMART Domains

Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

Domain	Start	End	E-Value	Type
low complexity region	76	131	N/A	INTRINSIC
HOX	192	254	3.35e-28	SMART
low complexity region	287	302	N/A	INTRINSIC
low complexity region	304	326	N/A	INTRINSIC
Pfam:DUF4074	377	441	9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128102

Meta Mutation Damage Score

0.6695

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile but show posterior transformations of the seventh cervical vertebra to the first thoracic vertebra with incomplete penetrance and variable expressivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,221 (GRCm39)	N3502D	possibly damaging	Het
Ambn	T	A	5: 88,609,574 (GRCm39)	I94K	possibly damaging	Het
Ank3	A	G	10: 69,660,179 (GRCm39)	H227R	probably damaging	Het
Arhgap42	G	T	9: 9,006,446 (GRCm39)	P650Q	probably damaging	Het
Bahcc1	A	G	11: 120,162,422 (GRCm39)	E240G	possibly damaging	Het
Cd19	T	C	7: 126,010,025 (GRCm39)	E408G	probably benign	Het
Cdh11	G	A	8: 103,391,276 (GRCm39)	T320I	probably damaging	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Dgkd	T	G	1: 87,853,413 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,309,401 (GRCm39)	L163Q	probably damaging	Het
Ecpas	A	G	4: 58,814,081 (GRCm39)	C1342R	possibly damaging	Het
Etl4	T	A	2: 20,748,919 (GRCm39)	L550Q	possibly damaging	Het
Evpl	T	C	11: 116,114,633 (GRCm39)	E1019G	probably damaging	Het
Fam120b	T	C	17: 15,635,091 (GRCm39)	L601P	probably damaging	Het
Fhit	C	A	14: 9,763,762 (GRCm38)	R172L	possibly damaging	Het
Htra4	A	G	8: 25,520,561 (GRCm39)	F367L	probably damaging	Het
Ighg2c	A	G	12: 113,251,930 (GRCm39)	I102T	unknown	Het
Iws1	T	C	18: 32,219,326 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,933,591 (GRCm39)	V842A	probably damaging	Het
Limd2	C	T	11: 106,050,213 (GRCm39)	M1I	probably null	Het
Lrp2	T	A	2: 69,348,787 (GRCm39)	Q728L	probably damaging	Het
Mcc	T	A	18: 44,606,707 (GRCm39)	T400S	possibly damaging	Het
Mthfd1l	A	G	10: 3,997,898 (GRCm39)	D623G	probably damaging	Het
Myocos	T	C	1: 162,484,665 (GRCm39)		probably benign	Het
Nat1	G	T	8: 67,943,995 (GRCm39)	A124S	probably benign	Het
Nfya	A	T	17: 48,702,715 (GRCm39)	M62K	probably benign	Het
Nlgn1	A	G	3: 25,490,506 (GRCm39)	V378A	probably damaging	Het
Or52r1c	T	A	7: 102,735,265 (GRCm39)	I175N	possibly damaging	Het
Or5ak22	A	T	2: 85,230,861 (GRCm39)	N5K	probably damaging	Het
Pitpnm2	T	C	5: 124,269,234 (GRCm39)	S463G	probably benign	Het
Serpinb3b	T	C	1: 107,082,403 (GRCm39)	E287G	probably benign	Het
Slc16a13	T	C	11: 70,108,661 (GRCm39)	T390A	probably benign	Het
Slc7a14	A	G	3: 31,278,372 (GRCm39)	M411T	probably damaging	Het
Strn	A	G	17: 79,043,886 (GRCm39)	F11L	probably damaging	Het
Swap70	T	A	7: 109,854,956 (GRCm39)	F85L	possibly damaging	Het
Tanc2	T	A	11: 105,689,479 (GRCm39)	W214R	probably benign	Het
Tenm3	T	C	8: 48,729,773 (GRCm39)	K1411R	probably benign	Het
Tmem176a	G	T	6: 48,820,759 (GRCm39)	R116L	probably damaging	Het
Trim71	G	T	9: 114,354,115 (GRCm39)	H296Q	probably damaging	Het
Vmn1r67	A	T	7: 10,180,840 (GRCm39)	I35L	probably benign	Het
Vnn3	A	G	10: 23,727,620 (GRCm39)	T47A	probably benign	Het
Zscan10	A	T	17: 23,824,581 (GRCm39)	Q12H	probably damaging	Het

Other mutations in Hoxa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01949:Hoxa6	APN	6	52,183,511 (GRCm39)	missense	possibly damaging	0.95
IGL02157:Hoxa6	APN	6	52,185,171 (GRCm39)	missense	possibly damaging	0.96
R0348:Hoxa6	UTSW	6	52,183,548 (GRCm39)	missense	possibly damaging	0.95
R0569:Hoxa6	UTSW	6	52,185,163 (GRCm39)	splice site	probably null
R4597:Hoxa6	UTSW	6	52,185,387 (GRCm39)	splice site	probably null
R4781:Hoxa6	UTSW	6	52,183,400 (GRCm39)	missense	possibly damaging	0.82
R5766:Hoxa6	UTSW	6	52,185,394 (GRCm39)	missense	probably benign
R7794:Hoxa6	UTSW	6	52,183,548 (GRCm39)	missense	possibly damaging	0.95
R9165:Hoxa6	UTSW	6	52,185,535 (GRCm39)	nonsense	probably null
Z1088:Hoxa6	UTSW	6	52,183,525 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TAGAGGTTACAACGCTGGCC -3'
(R):5'- CTGGAGTGAAGCAGAGTAATTTCC -3'

Sequencing Primer
(F):5'- TTACAACGCTGGCCTGGTC -3'
(R):5'- CCAGTTTAGAGACTAATGGCTGG -3'

Posted On

2018-09-12