Mutagenetix > Incidental Mutation

Incidental Mutation 'R6658:Hoxa3'

526710

Institutional Source

Beutler Lab

Gene Symbol

Hoxa3

Ensembl Gene

ENSMUSG00000079560

Gene Name

homeobox A3

Synonyms

Hox-1.5, Mo-10

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6658 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52146042-52190316 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 52147058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 398 (Y398*)

Ref Sequence

ENSEMBL: ENSMUSP00000110077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134831]

AlphaFold

P02831

Predicted Effect

probably null
Transcript: ENSMUST00000114434
AA Change: Y398*

SMART Domains

Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: Y398*

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

noncoding transcript
Transcript: ENSMUST00000114435

Predicted Effect

probably benign
Transcript: ENSMUST00000128102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133723

Predicted Effect

probably benign
Transcript: ENSMUST00000134831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189230

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

96% (53/55)

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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are athymic, aparathyroid, and exhibit reduced thyroid and submaxillary glands, defects of the IXth nerve, and frequently, heart and artery abnormalities. Mutants die neonatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,077,353 (GRCm39)	N1340S	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Antxr1	C	A	6: 87,261,291 (GRCm39)	R167L	probably damaging	Het
BC107364	T	C	3: 96,348,026 (GRCm39)	S88G	unknown	Het
Cfap100	T	G	6: 90,390,400 (GRCm39)	E80A	probably damaging	Het
Dhx8	C	A	11: 101,655,748 (GRCm39)	H1107Q	probably damaging	Het
Dip2c	G	A	13: 9,543,213 (GRCm39)		probably null	Het
Dpep2	A	T	8: 106,716,542 (GRCm39)	D212E	probably benign	Het
Dpep3	T	C	8: 106,705,728 (GRCm39)	T66A	probably benign	Het
Fat4	G	T	3: 38,997,077 (GRCm39)	M1765I	probably benign	Het
Gbgt1	G	A	2: 28,394,998 (GRCm39)	R212H	probably benign	Het
Gimap4	T	C	6: 48,668,338 (GRCm39)	S215P	possibly damaging	Het
Gpr161	A	T	1: 165,134,136 (GRCm39)	T133S	possibly damaging	Het
Grin2c	G	T	11: 115,149,108 (GRCm39)	S163R	possibly damaging	Het
Grip2	T	A	6: 91,763,472 (GRCm39)	N109Y	probably damaging	Het
H60c	G	A	10: 3,210,270 (GRCm39)	T93I	possibly damaging	Het
Hmgcl	A	G	4: 135,682,962 (GRCm39)	N138S	probably damaging	Het
Igkv1-132	A	G	6: 67,737,091 (GRCm39)	N19S	probably benign	Het
Ikbip	A	G	10: 90,932,181 (GRCm39)	N275S	probably benign	Het
Il7	T	A	3: 7,642,239 (GRCm39)	T33S	probably benign	Het
Iqgap2	A	T	13: 95,796,840 (GRCm39)	Y1105N	probably damaging	Het
Lmo7	A	G	14: 102,148,281 (GRCm39)	D934G	possibly damaging	Het
Mroh4	T	C	15: 74,492,978 (GRCm39)	Q310R	possibly damaging	Het
Mtmr14	C	A	6: 113,242,437 (GRCm39)	Y22*	probably null	Het
Muc5b	G	T	7: 141,422,244 (GRCm39)		probably null	Het
Naga	T	G	15: 82,214,975 (GRCm39)	K328Q	probably benign	Het
Neo1	G	A	9: 58,829,132 (GRCm39)	T589I	probably benign	Het
Nme5	A	C	18: 34,711,639 (GRCm39)	I34S	probably damaging	Het
Nrip2	T	C	6: 128,385,199 (GRCm39)	L210P	possibly damaging	Het
Nup93	A	G	8: 95,030,807 (GRCm39)	D424G	probably benign	Het
Or12e9	T	C	2: 87,202,497 (GRCm39)	V207A	probably benign	Het
Or1e26	G	A	11: 73,479,874 (GRCm39)	S230F	probably damaging	Het
Papss1	T	A	3: 131,311,696 (GRCm39)	V308E	probably benign	Het
Pilrb1	T	A	5: 137,855,789 (GRCm39)	Y34F	probably benign	Het
Pira2	T	A	7: 3,845,300 (GRCm39)	E319D	probably benign	Het
Pkhd1	G	A	1: 20,682,929 (GRCm39)	T91M	probably damaging	Het
Prph2	A	G	17: 47,230,790 (GRCm39)	T228A	probably benign	Het
Ranbp17	G	T	11: 33,169,214 (GRCm39)	S1000*	probably null	Het
Rbm27	A	C	18: 42,457,178 (GRCm39)	H651P	probably damaging	Het
Scyl2	A	T	10: 89,476,835 (GRCm39)	D763E	probably benign	Het
Sltm	A	G	9: 70,488,644 (GRCm39)	Y598C	probably damaging	Het
Smc2	A	T	4: 52,451,322 (GRCm39)	K322I	probably benign	Het
Tcf4	G	A	18: 69,790,873 (GRCm39)	R271Q	probably null	Het
Tex36	C	T	7: 133,196,140 (GRCm39)	D87N	probably damaging	Het
Tex44	A	C	1: 86,354,751 (GRCm39)	H220P	probably benign	Het
Tjp1	T	C	7: 64,950,825 (GRCm39)	D1683G	possibly damaging	Het
Trav7-2	T	C	14: 53,628,573 (GRCm39)	S104P	probably damaging	Het
Trim55	C	T	3: 19,745,719 (GRCm39)	R532C	probably damaging	Het
Ube3c	T	A	5: 29,807,215 (GRCm39)	L338Q	probably damaging	Het
Ush2a	A	G	1: 188,546,556 (GRCm39)	H3444R	possibly damaging	Het
Vars1	A	G	17: 35,234,717 (GRCm39)	D1182G	probably benign	Het
Vit	T	A	17: 78,930,232 (GRCm39)	I399N	possibly damaging	Het
Vmn1r16	A	T	6: 57,300,091 (GRCm39)	L177*	probably null	Het

Other mutations in Hoxa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Hoxa3	APN	6	52,147,554 (GRCm39)	unclassified	probably benign
IGL02346:Hoxa3	APN	6	52,147,579 (GRCm39)	unclassified	probably benign
FR4342:Hoxa3	UTSW	6	52,147,110 (GRCm39)	unclassified	probably benign
IGL03052:Hoxa3	UTSW	6	52,147,267 (GRCm39)	unclassified	probably benign
PIT4515001:Hoxa3	UTSW	6	52,147,164 (GRCm39)	missense	unknown
R0197:Hoxa3	UTSW	6	52,147,123 (GRCm39)	unclassified	probably benign
R1017:Hoxa3	UTSW	6	52,149,386 (GRCm39)	splice site	probably null
R1180:Hoxa3	UTSW	6	52,147,382 (GRCm39)	nonsense	probably null
R1927:Hoxa3	UTSW	6	52,146,979 (GRCm39)	unclassified	probably benign
R1999:Hoxa3	UTSW	6	52,147,382 (GRCm39)	nonsense	probably null
R4939:Hoxa3	UTSW	6	52,147,656 (GRCm39)	unclassified	probably benign
R5931:Hoxa3	UTSW	6	52,149,568 (GRCm39)	missense	probably damaging	1.00
R5995:Hoxa3	UTSW	6	52,147,263 (GRCm39)	unclassified	probably benign
R7651:Hoxa3	UTSW	6	52,149,253 (GRCm39)	missense	unknown
R7853:Hoxa3	UTSW	6	52,147,267 (GRCm39)	unclassified	probably benign
R8274:Hoxa3	UTSW	6	52,147,524 (GRCm39)	missense	unknown
X0057:Hoxa3	UTSW	6	52,147,421 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGACAGCCTTTCCAGCAAC -3'
(R):5'- ACAGTGTCCCATATGAGCCC -3'

Sequencing Primer
(F):5'- TTTCCAGCAACCAAGATTGCTACG -3'
(R):5'- GTGTCCCATATGAGCCCCAGTC -3'

Posted On

2018-07-23