Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00331:Hoxa2'

5447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hoxa2

Ensembl Gene

ENSMUSG00000014704

Gene Name

homeobox A2

Synonyms

Hox-1.11

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

52139397-52141811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52140497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 163 (Y163S)

Ref Sequence

ENSEMBL: ENSMUSP00000014848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014848] [ENSMUST00000128102]

AlphaFold

P31245

Predicted Effect

probably damaging
Transcript: ENSMUST00000014848
AA Change: Y163S

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

SMART Domains

Protein: ENSMUSP00000014848
Gene: ENSMUSG00000014704
AA Change: Y163S

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
HOX	139	201	2.37e-28	SMART
low complexity region	214	227	N/A	INTRINSIC
low complexity region	332	367	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114435

Predicted Effect

probably benign
Transcript: ENSMUST00000128102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184680

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is expressed in rhombomere 2 and is important for hindbrain formation in the early embryo. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutant homozygotes lack skeletal elements normally derived from the second branchial arch and show duplication of elements derived from the first branchial arch, such as ossification centers of the middle ear. Mutants die perinatally with cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,320,595 (GRCm39)		probably benign	Het
Adamts19	T	A	18: 59,140,397 (GRCm39)		probably benign	Het
Afg3l1	T	A	8: 124,214,128 (GRCm39)	F190I	probably benign	Het
Alms1	T	A	6: 85,618,353 (GRCm39)	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,392,478 (GRCm39)	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,085,766 (GRCm39)	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,541,586 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,076,462 (GRCm39)	I416M	possibly damaging	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Dmbt1	A	T	7: 130,701,020 (GRCm39)	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,766 (GRCm39)	T3873A	probably damaging	Het
Endog	C	T	2: 30,062,912 (GRCm39)	T184M	probably damaging	Het
Fcgbp	T	C	7: 27,800,966 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,606,659 (GRCm39)	I1061T	probably benign	Het
Hdac2	T	A	10: 36,873,067 (GRCm39)	N308K	probably damaging	Het
Hsd3b7	T	C	7: 127,402,144 (GRCm39)	L263P	probably damaging	Het
Klf17	T	C	4: 117,618,235 (GRCm39)	T41A	probably benign	Het
Lrrfip1	T	C	1: 90,996,343 (GRCm39)	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,215,533 (GRCm39)	V614I	probably benign	Het
Mocs1	T	G	17: 49,742,292 (GRCm39)		probably null	Het
Moxd1	T	C	10: 24,158,453 (GRCm39)		probably benign	Het
Mterf1a	T	C	5: 3,941,610 (GRCm39)	E86G	probably damaging	Het
Muc4	A	G	16: 32,574,613 (GRCm39)	D1021G	probably benign	Het
Nomo1	T	C	7: 45,694,760 (GRCm39)	S212P	possibly damaging	Het
Or5b116	A	G	19: 13,422,988 (GRCm39)	D204G	probably benign	Het
Or8c15	T	A	9: 38,120,534 (GRCm39)	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,178,374 (GRCm39)	T385P	probably damaging	Het
Piwil4	A	T	9: 14,626,327 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,818,619 (GRCm39)		probably null	Het
Prr14l	T	C	5: 32,988,410 (GRCm39)	I362V	probably benign	Het
Sergef	C	T	7: 46,284,844 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,572,511 (GRCm39)	D948G	probably damaging	Het
Skor1	A	T	9: 63,053,723 (GRCm39)	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086 (GRCm38)	Q87*	probably null	Het
Syde2	A	G	3: 145,720,096 (GRCm39)	K772E	possibly damaging	Het
Taf2	T	A	15: 54,934,845 (GRCm39)		probably null	Het
Tbc1d13	T	A	2: 30,030,523 (GRCm39)	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,591,722 (GRCm39)	F91L	probably benign	Het
Tmem63a	A	G	1: 180,794,062 (GRCm39)	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,782,882 (GRCm39)	N712K	possibly damaging	Het
Trip12	A	T	1: 84,708,262 (GRCm39)	D603E	probably damaging	Het
Trmt11	T	C	10: 30,442,445 (GRCm39)	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,453,958 (GRCm39)	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,132,755 (GRCm39)	H33R	probably benign	Het
Zfp207	A	G	11: 80,279,828 (GRCm39)	D111G	probably benign	Het

Other mutations in Hoxa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0111:Hoxa2	UTSW	6	52,141,467 (GRCm39)	splice site	probably null
R0612:Hoxa2	UTSW	6	52,140,540 (GRCm39)	missense	probably damaging	1.00
R1479:Hoxa2	UTSW	6	52,140,320 (GRCm39)	missense	probably damaging	0.97
R1992:Hoxa2	UTSW	6	52,141,576 (GRCm39)	missense	probably damaging	0.97
R2315:Hoxa2	UTSW	6	52,139,871 (GRCm39)	unclassified	probably benign
R5703:Hoxa2	UTSW	6	52,140,243 (GRCm39)	missense	probably damaging	0.98
R5994:Hoxa2	UTSW	6	52,141,372 (GRCm39)	missense	possibly damaging	0.73
R6168:Hoxa2	UTSW	6	52,140,461 (GRCm39)	missense	probably damaging	1.00
R7483:Hoxa2	UTSW	6	52,141,279 (GRCm39)	missense	probably benign	0.01
R7573:Hoxa2	UTSW	6	52,140,283 (GRCm39)	missense	probably benign	0.25
R7708:Hoxa2	UTSW	6	52,141,542 (GRCm39)	missense	probably damaging	0.99
R8215:Hoxa2	UTSW	6	52,140,041 (GRCm39)	missense	probably damaging	1.00
R8548:Hoxa2	UTSW	6	52,140,098 (GRCm39)	missense	probably damaging	1.00
R8683:Hoxa2	UTSW	6	52,141,540 (GRCm39)	missense	possibly damaging	0.46
R8936:Hoxa2	UTSW	6	52,140,517 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20