Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Hoxa13'

160230

Institutional Source

Beutler Lab

Gene Symbol

Hoxa13

Ensembl Gene

ENSMUSG00000038203

Gene Name

homeobox A13

Synonyms

Hox-1.10

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1398 (G1)

Quality Score

96.1

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,480,285 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fgfrl1	T	A	5: 108,854,147 (GRCm39)		probably benign	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Grsf1	A	G	5: 88,813,706 (GRCm39)	Y231H	probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Nvl	A	T	1: 180,924,691 (GRCm39)		probably benign	Het
Or5p70	T	A	7: 107,994,708 (GRCm39)	V127E	probably damaging	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Vwf	A	T	6: 125,580,420 (GRCm39)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Yipf3	T	C	17: 46,562,372 (GRCm39)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	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	52,260,647 (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

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