Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Hoxa13'

66828

Institutional Source

Beutler Lab

Gene Symbol

Hoxa13

Ensembl Gene

ENSMUSG00000038203

Gene Name

homeobox A13

Synonyms

Hox-1.10

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0458 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

52235833-52237865 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCG to CCGCG at 52237618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047993] [ENSMUST00000114416] [ENSMUST00000147595]

AlphaFold

Q62424

Predicted Effect

probably null
Transcript: ENSMUST00000047993

SMART Domains

Protein: ENSMUSP00000039170
Gene: ENSMUSG00000038203

Domain	Start	End	E-Value	Type
low complexity region	37	81	N/A	INTRINSIC
Pfam:HoxA13_N	136	219	6.2e-25	PFAM
HOX	317	379	1.16e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114416

SMART Domains

Protein: ENSMUSP00000110059
Gene: ENSMUSG00000038203

Domain	Start	End	E-Value	Type
Pfam:HoxA13_N	1	55	1e-19	PFAM
HOX	153	215	1.16e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141300

Predicted Effect

probably benign
Transcript: ENSMUST00000147595

SMART Domains

Protein: ENSMUSP00000125221
Gene: ENSMUSG00000038203

Domain	Start	End	E-Value	Type
Pfam:HoxA13_N	1	39	8.3e-11	PFAM
HOX	137	199	1.16e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185112

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

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. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit agenesis of both the urinary bladder and the caudal portion of the Mullerian ducts, premature stenosis of the umbilical arteries, loss of the most anterior digit of all feet, and death around mid-gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,856,747 (GRCm39)	E8G	unknown	Het
9130008F23Rik	T	C	17: 41,191,127 (GRCm39)	T101A	probably benign	Het
Abcb8	C	T	5: 24,611,231 (GRCm39)	T455I	probably benign	Het
Abcb9	C	A	5: 124,220,209 (GRCm39)		probably null	Het
Akp3	T	G	1: 87,054,259 (GRCm39)	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,729,390 (GRCm39)	D109V	probably damaging	Het
Aurka	C	A	2: 172,212,366 (GRCm39)	E4*	probably null	Het
Cacna1g	T	A	11: 94,300,266 (GRCm39)	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,600,722 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,850,837 (GRCm39)	V325A	probably benign	Het
Clasp2	T	A	9: 113,735,292 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,620,655 (GRCm39)	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,001,610 (GRCm39)	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,147,633 (GRCm39)	V399A	possibly damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,502,513 (GRCm39)	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,197,104 (GRCm39)		probably benign	Het
Epn2	C	A	11: 61,437,281 (GRCm39)	R97L	possibly damaging	Het
Fam243	T	C	16: 92,117,995 (GRCm39)	I98V	probably benign	Het
Fzd6	G	A	15: 38,894,676 (GRCm39)	A281T	probably damaging	Het
Garem2	T	A	5: 30,319,180 (GRCm39)	I214N	probably damaging	Het
Glg1	A	G	8: 111,887,238 (GRCm39)		probably benign	Het
Golm1	T	C	13: 59,812,178 (GRCm39)	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,216,233 (GRCm39)	R12L	probably benign	Het
Gstm1	T	A	3: 107,924,679 (GRCm39)	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,383,663 (GRCm39)	Q3709L	probably benign	Het
Icam1	A	G	9: 20,939,157 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,510,096 (GRCm39)		probably null	Het
Kif15	T	C	9: 122,838,424 (GRCm39)	F1121L	probably benign	Het
Klhl30	T	A	1: 91,288,718 (GRCm39)		probably benign	Het
Ldlrad1	T	C	4: 107,073,387 (GRCm39)	C141R	probably damaging	Het
Lemd2	T	C	17: 27,409,627 (GRCm39)	D508G	probably damaging	Het
Lilra5	A	C	7: 4,241,218 (GRCm39)	T52P	probably benign	Het
Lrtm2	G	A	6: 119,294,229 (GRCm39)	P301S	probably damaging	Het
Mcoln2	A	G	3: 145,855,768 (GRCm39)		probably benign	Het
Mkrn2os	A	G	6: 115,563,631 (GRCm39)	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,162,224 (GRCm39)	V607A	probably benign	Het
Mmadhc	T	C	2: 50,171,173 (GRCm39)	Y213C	probably benign	Het
Mpo	C	A	11: 87,687,123 (GRCm39)	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,168,036 (GRCm39)	I310M	probably damaging	Het
Muc5b	C	A	7: 141,418,709 (GRCm39)	A3885D	probably benign	Het
Mvp	A	G	7: 126,597,663 (GRCm39)	W152R	probably damaging	Het
Nmur2	A	T	11: 55,931,394 (GRCm39)	F106I	possibly damaging	Het
Nr3c2	T	A	8: 77,636,167 (GRCm39)	F423I	probably damaging	Het
Or1l8	A	G	2: 36,817,349 (GRCm39)	V259A	probably damaging	Het
Or5m5	A	G	2: 85,814,600 (GRCm39)	S139G	probably benign	Het
Or8c16	G	A	9: 38,130,344 (GRCm39)	C75Y	probably damaging	Het
Or9q1	G	T	19: 13,805,593 (GRCm39)	H56N	probably benign	Het
Pappa	A	G	4: 65,074,119 (GRCm39)	I224M	probably damaging	Het
Prex1	A	C	2: 166,427,743 (GRCm39)	S800A	probably damaging	Het
Prkaca	T	C	8: 84,721,911 (GRCm39)		probably benign	Het
Ptpru	A	T	4: 131,526,986 (GRCm39)	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,777,824 (GRCm39)		probably null	Het
Rbms2	C	T	10: 127,987,058 (GRCm39)	C50Y	probably damaging	Het
Rd3	C	T	1: 191,709,414 (GRCm39)	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,256 (GRCm39)	I247L	probably benign	Het
Sf3b3	A	G	8: 111,538,768 (GRCm39)		probably benign	Het
Slc35c1	A	T	2: 92,284,858 (GRCm39)	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,193,813 (GRCm39)		probably null	Het
Snx6	G	T	12: 54,814,921 (GRCm39)	Y17*	probably null	Het
Sox6	C	A	7: 115,089,029 (GRCm39)	R611L	probably damaging	Het
Spata13	G	A	14: 60,929,492 (GRCm39)	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,746,879 (GRCm39)	A483D	probably damaging	Het
Stat1	C	T	1: 52,188,211 (GRCm39)		probably benign	Het
Tab2	A	T	10: 7,795,319 (GRCm39)	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 155,906,153 (GRCm39)	N213S	probably damaging	Het
Trim39	T	C	17: 36,572,404 (GRCm39)	K300E	probably damaging	Het
Tubal3	T	C	13: 3,983,137 (GRCm39)	S306P	probably damaging	Het
Ufm1	A	G	3: 53,768,655 (GRCm39)	L33P	probably damaging	Het
Washc4	G	A	10: 83,382,663 (GRCm39)	V26I	possibly damaging	Het
Wfs1	A	G	5: 37,126,013 (GRCm39)	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,351,214 (GRCm39)	V109A	probably damaging	Het
Zfp667	T	C	7: 6,307,844 (GRCm39)	S171P	probably benign	Het
Zkscan5	T	A	5: 145,142,281 (GRCm39)	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,768,965 (GRCm39)	R1128W	probably damaging	Het

Other mutations in Hoxa13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
H8786:Hoxa13	UTSW	6	52,260,636 (GRCm38)	frame shift	probably null
PIT4131001:Hoxa13	UTSW	6	52,260,648 (GRCm38)	utr 5 prime	probably benign
PIT4131001:Hoxa13	UTSW	6	52,260,647 (GRCm38)	utr 5 prime	probably benign
PIT4142001:Hoxa13	UTSW	6	52,260,648 (GRCm38)	utr 5 prime	probably benign
PIT4142001:Hoxa13	UTSW	6	52,260,647 (GRCm38)	utr 5 prime	probably benign
R0496:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R0502:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R0512:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R0784:Hoxa13	UTSW	6	52,236,917 (GRCm39)	missense	probably damaging	0.98
R1062:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R1157:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R1192:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R1310:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R1341:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R1343:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
R1398:Hoxa13	UTSW	6	52,260,648 (GRCm38)	utr 5 prime	probably benign
R1398:Hoxa13	UTSW	6	52,260,647 (GRCm38)	utr 5 prime	probably benign
R1400:Hoxa13	UTSW	6	52,260,648 (GRCm38)	utr 5 prime	probably benign
R1400:Hoxa13	UTSW	6	52,260,647 (GRCm38)	utr 5 prime	probably benign
R1450:Hoxa13	UTSW	6	52,260,648 (GRCm38)	utr 5 prime	probably benign
R1450:Hoxa13	UTSW	6	52,260,647 (GRCm38)	utr 5 prime	probably benign
R1632:Hoxa13	UTSW	6	52,236,917 (GRCm39)	missense	probably damaging	0.98
R2382:Hoxa13	UTSW	6	52,236,125 (GRCm39)	missense	probably damaging	0.98
R3149:Hoxa13	UTSW	6	52,237,284 (GRCm39)	intron	probably benign
R4012:Hoxa13	UTSW	6	52,236,107 (GRCm39)	missense	possibly damaging	0.47
R4426:Hoxa13	UTSW	6	52,237,714 (GRCm39)	utr 5 prime	probably benign
R5535:Hoxa13	UTSW	6	52,237,520 (GRCm39)	frame shift	probably null
R6175:Hoxa13	UTSW	6	52,236,908 (GRCm39)	missense	probably damaging	0.98
R7365:Hoxa13	UTSW	6	52,236,862 (GRCm39)	missense	probably damaging	1.00
R7770:Hoxa13	UTSW	6	52,237,247 (GRCm39)	critical splice acceptor site	probably benign
R7926:Hoxa13	UTSW	6	52,237,619 (GRCm39)	frame shift	probably null
R7931:Hoxa13	UTSW	6	52,237,620 (GRCm39)	frame shift	probably null
R8960:Hoxa13	UTSW	6	52,236,976 (GRCm39)	missense	probably benign	0.03
R8982:Hoxa13	UTSW	6	52,235,916 (GRCm39)	nonsense	probably null
R9060:Hoxa13	UTSW	6	52,236,897 (GRCm39)	missense	probably damaging	1.00
R9698:Hoxa13	UTSW	6	52,236,024 (GRCm39)	missense	probably benign	0.00
X0018:Hoxa13	UTSW	6	52,237,099 (GRCm39)	missense	probably benign	0.13

Predicted Primers

Posted On

2013-08-19