Mutagenetix > Incidental Mutation

Incidental Mutation 'R1450:Hoxa13'

162141

Institutional Source

Beutler Lab

Gene Symbol

Hoxa13

Ensembl Gene

ENSMUSG00000038203

Gene Name

homeobox A13

Synonyms

Hox-1.10

MMRRC Submission

039505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1450 (G1)

Quality Score

87.3

Status

Not validated

Chromosome

Chromosomal Location

52235833-52237865 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to C at 52260648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125221 (fasta)

Gene Model

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

AlphaFold

Q62424

Predicted Effect

unknown
Transcript: ENSMUST00000047993
AA Change: R43G

SMART Domains

Protein: ENSMUSP00000039170
Gene: ENSMUSG00000038203
AA Change: R43G

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: ENSMUST00000185179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174763

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

96% (73/76)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,380,531 (GRCm39)		probably benign	Het
Adh4	C	T	3: 138,129,935 (GRCm39)	P254S	probably damaging	Het
Amfr	T	C	8: 94,714,375 (GRCm39)	T223A	probably benign	Het
Ank2	T	C	3: 126,750,951 (GRCm39)	T412A	possibly damaging	Het
Bag6	T	A	17: 35,360,934 (GRCm39)	D422E	probably benign	Het
Ccdc185	T	G	1: 182,575,129 (GRCm39)	Q520P	possibly damaging	Het
Cfap276	T	A	3: 108,449,799 (GRCm39)		probably null	Het
Clock	G	A	5: 76,410,578 (GRCm39)	Q98*	probably null	Het
Cngb3	A	T	4: 19,395,922 (GRCm39)		probably benign	Het
Csmd1	T	G	8: 15,995,180 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,365,130 (GRCm39)	L1636P	probably damaging	Het
Dennd4a	A	G	9: 64,818,947 (GRCm39)	I1701V	probably benign	Het
Dgcr2	T	C	16: 17,674,678 (GRCm39)	H243R	possibly damaging	Het
Dimt1	A	G	13: 107,084,151 (GRCm39)	N46S	probably benign	Het
Dnah9	T	C	11: 65,818,612 (GRCm39)	Y58C	probably damaging	Het
Dsg1b	T	A	18: 20,542,241 (GRCm39)	V916E	probably damaging	Het
Dst	T	C	1: 34,227,476 (GRCm39)	S1690P	probably damaging	Het
Dst	T	A	1: 34,251,340 (GRCm39)	I2131K	probably damaging	Het
Epb41l1	T	C	2: 156,353,745 (GRCm39)		probably benign	Het
Fem1a	T	C	17: 56,564,579 (GRCm39)	V224A	probably damaging	Het
Got2	C	T	8: 96,598,614 (GRCm39)	E203K	probably benign	Het
Hcar2	A	T	5: 124,002,813 (GRCm39)	I230N	probably damaging	Het
Herc3	A	T	6: 58,853,500 (GRCm39)	K554*	probably null	Het
Hfm1	A	G	5: 107,066,324 (GRCm39)	F35L	probably damaging	Het
Hmcn1	A	G	1: 150,528,257 (GRCm39)		probably benign	Het
Hs2st1	C	T	3: 144,140,479 (GRCm39)		probably benign	Het
Igfbp5	T	A	1: 72,913,048 (GRCm39)	D84V	probably benign	Het
Ints3	C	A	3: 90,340,135 (GRCm39)	L41F	probably damaging	Het
Ipo5	T	C	14: 121,181,805 (GRCm39)	V966A	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kpna2	A	G	11: 106,888,135 (GRCm39)	S2P	probably benign	Het
Lct	A	G	1: 128,235,640 (GRCm39)	S456P	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc7	T	G	3: 157,892,681 (GRCm39)	I323L	possibly damaging	Het
Ly6g	A	G	15: 75,030,482 (GRCm39)	K77R	probably benign	Het
Maea	T	C	5: 33,523,144 (GRCm39)		probably null	Het
Marco	A	T	1: 120,404,474 (GRCm39)		probably benign	Het
Mcmbp	G	T	7: 128,317,655 (GRCm39)		probably benign	Het
Mtcl3	A	T	10: 29,023,736 (GRCm39)	N361I	probably damaging	Het
Mtr	T	A	13: 12,208,619 (GRCm39)	R1017W	probably damaging	Het
Myo15a	T	A	11: 60,386,308 (GRCm39)	I1811N	probably damaging	Het
Nbeal2	G	A	9: 110,462,740 (GRCm39)		probably benign	Het
Nlrp10	A	G	7: 108,524,595 (GRCm39)	V295A	probably damaging	Het
Or10ak7	T	C	4: 118,791,707 (GRCm39)	T111A	probably benign	Het
Or51ac3	A	G	7: 103,213,658 (GRCm39)	V276A	probably benign	Het
Or5e1	A	T	7: 108,354,719 (GRCm39)	I219F	probably damaging	Het
Pde4b	A	T	4: 102,458,832 (GRCm39)	Q496L	probably damaging	Het
Peg12	C	A	7: 62,113,324 (GRCm39)	G258*	probably null	Het
Pigc	A	G	1: 161,798,822 (GRCm39)	Y268C	probably benign	Het
Pnisr	G	T	4: 21,874,912 (GRCm39)		probably null	Het
Poteg	T	C	8: 27,937,871 (GRCm39)	F5S	probably benign	Het
Prss40	T	A	1: 34,595,178 (GRCm39)	I101F	probably benign	Het
Ptges3l	T	A	11: 101,312,731 (GRCm39)	D113V	possibly damaging	Het
Raver2	T	C	4: 100,993,349 (GRCm39)	S510P	possibly damaging	Het
Rgr	A	T	14: 36,766,641 (GRCm39)	C94*	probably null	Het
Rp1l1	T	A	14: 64,265,599 (GRCm39)	I395N	probably benign	Het
Sesn3	T	A	9: 14,227,520 (GRCm39)	H168Q	possibly damaging	Het
Sox30	C	A	11: 45,908,098 (GRCm39)	P755Q	probably damaging	Het
Stac3	T	C	10: 127,340,754 (GRCm39)	F173S	probably damaging	Het
Synj2	C	A	17: 6,077,599 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,297,244 (GRCm39)	I120L	probably benign	Het
Tas2r124	A	G	6: 132,732,019 (GRCm39)	I109M	probably damaging	Het
Tm4sf19	A	T	16: 32,226,781 (GRCm39)	H190L	probably damaging	Het
Tmem143	T	G	7: 45,556,532 (GRCm39)	V179G	probably damaging	Het
Ubr4	T	C	4: 139,195,339 (GRCm39)	F1187S	probably damaging	Het
Ubtfl1	A	G	9: 18,321,209 (GRCm39)	R246G	possibly damaging	Het
Zdhhc5	A	G	2: 84,532,733 (GRCm39)	F57S	probably damaging	Het
Zfp40	A	T	17: 23,394,232 (GRCm39)	M717K	probably benign	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
R0458:Hoxa13	UTSW	6	52,237,618 (GRCm39)	frame shift	probably null
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	52,260,647 (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

PCR Primer
(F):5'- TGCGTAGCCCTGATGGTAGAAAGC -3'
(R):5'- TAAAACAGCGCCACTGGGGTCTTC -3'

Sequencing Primer
(F):5'- TGCCGAAGTAGCCGTAGG -3'
(R):5'- ACTGGGGTCTTCTCCATGC -3'

Posted On

2014-03-14