Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02072:Hoxa1'

185863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hoxa1

Ensembl Gene

ENSMUSG00000029844

Gene Name

homeobox A1

Synonyms

Hox-1.6, early retinoic acid, ERA1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02072

Quality Score

Status

Chromosome

Chromosomal Location

52155590-52158317 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52156898 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 283 (M283L)

Ref Sequence

ENSEMBL: ENSMUSP00000000964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000964] [ENSMUST00000120363]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000964
AA Change: M283L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000964
Gene: ENSMUSG00000029844
AA Change: M283L

Domain	Start	End	E-Value	Type
low complexity region	142	148	N/A	INTRINSIC
HOX	230	292	1.49e-25	SMART
low complexity region	304	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184778

Coding Region Coverage

Validation Efficiency

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. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die perinatally and exhibit altered and missing rhombomeric structures associated with abnormalities of cranial nerves and ganglia, defects in the skull, and both outer and inner ears, and anoxia at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	T	A	12: 111,161,820		probably benign	Het
Atm	A	G	9: 53,459,796	S2251P	probably benign	Het
C1qtnf6	T	A	15: 78,527,351	K42*	probably null	Het
Ddx20	A	T	3: 105,680,627	V379E	probably damaging	Het
Dnah7a	A	T	1: 53,605,827	W1017R	probably damaging	Het
Eif2s1	T	A	12: 78,880,014	N179K	probably benign	Het
Exosc9	A	T	3: 36,554,672	N140I	probably damaging	Het
Fam84b	A	G	15: 60,823,453	L148P	probably damaging	Het
Fancg	A	C	4: 43,007,062	H238Q	probably benign	Het
Fyttd1	A	G	16: 32,900,661	I110V	probably damaging	Het
G6pd2	A	T	5: 61,809,410	D176V	probably damaging	Het
Gm5114	A	G	7: 39,411,402	S8P	probably benign	Het
Hspbp1	A	T	7: 4,677,721	L252H	probably damaging	Het
Itgb2l	A	T	16: 96,430,608	D319E	probably benign	Het
Kdm6a	A	G	X: 18,254,289	T737A	probably benign	Het
Kmt2c	A	T	5: 25,405,432	D225E	possibly damaging	Het
Lamb2	T	A	9: 108,481,908	Y274*	probably null	Het
Mamdc4	A	G	2: 25,568,339	L353P	probably damaging	Het
Mid2	T	A	X: 140,736,452	H258Q	probably damaging	Het
Msh3	A	C	13: 92,300,295	N502K	probably damaging	Het
Nalcn	T	C	14: 123,323,358	H769R	probably benign	Het
Nfx1	A	G	4: 41,016,119	I894V	probably benign	Het
Notch3	G	A	17: 32,147,074	Q1018*	probably null	Het
Oas1e	A	G	5: 120,791,781		probably null	Het
Olfr1316	A	T	2: 112,130,081	H243Q	probably damaging	Het
Olfr854	A	G	9: 19,566,949	I145T	probably benign	Het
Plekha4	T	A	7: 45,538,298	F265I	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Slc9a3	T	C	13: 74,165,859	I762T	probably benign	Het
Spag1	C	A	15: 36,190,512	P158Q	probably damaging	Het
Spout1	G	A	2: 30,177,926	Q26*	probably null	Het
Sulf1	T	C	1: 12,848,208	Y50H	probably damaging	Het
Sytl5	C	T	X: 9,963,586		probably benign	Het
Tcof1	T	C	18: 60,831,565	E663G	possibly damaging	Het
Tmc3	A	G	7: 83,615,940	I681V	probably benign	Het
Tnfsf4	G	T	1: 161,417,289	C183F	probably damaging	Het
Ubqln3	A	T	7: 104,141,299	L528Q	possibly damaging	Het
Upf3a	A	C	8: 13,798,368	Q388P	probably damaging	Het
Vrk1	T	C	12: 106,042,885	V70A	probably benign	Het

Other mutations in Hoxa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4537:Hoxa1	UTSW	6	52157993	missense	probably benign	0.01
R6974:Hoxa1	UTSW	6	52158041	missense	probably damaging	0.98
R7054:Hoxa1	UTSW	6	52158200	missense	probably damaging	1.00
R7357:Hoxa1	UTSW	6	52156949	missense	probably benign	0.08
R7494:Hoxa1	UTSW	6	52157591	missense	probably damaging	1.00

Posted On

2014-05-07