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

52257694-52260880 bp(-) (GRCm38)

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: ENSMUST00000174763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192253

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
4931408C20Rik	G	T	1: 26,685,341	Q253K	possibly damaging	Het
9330182L06Rik	A	G	5: 9,380,297	Y69C	probably damaging	Het
Abca17	T	C	17: 24,328,537	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736		probably null	Het
Anks1b	A	G	10: 90,050,029	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296		probably benign	Het
C4b	T	A	17: 34,730,719		probably benign	Het
Cacna2d1	G	A	5: 16,357,766	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971		probably benign	Het
Cep63	A	T	9: 102,603,086		probably benign	Het
Chil4	T	A	3: 106,219,509		probably null	Het
Cnot11	A	G	1: 39,545,180	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263		probably benign	Het
Dsc1	A	T	18: 20,088,336	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926		probably benign	Het
Fgfrl1	T	A	5: 108,706,281		probably benign	Het
Gm3159	T	A	14: 4,398,586	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262		probably benign	Het
Grsf1	A	G	5: 88,665,847	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621	H614L	possibly damaging	Het
Isg20l2	C	A	3: 87,938,754	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957		probably benign	Het
Lrig3	C	T	10: 126,003,088	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589		probably benign	Het
Neb	T	A	2: 52,289,646	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756	Y428H	possibly damaging	Het
Nrros	A	T	16: 32,143,144	I649N	probably damaging	Het
Nvl	A	T	1: 181,097,126		probably benign	Het
Olfr495	T	A	7: 108,395,501	V127E	probably damaging	Het
Pms1	A	T	1: 53,207,276	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076		probably null	Het
Rps6kc1	T	C	1: 190,800,015	I597V	probably damaging	Het
Rtel1	T	A	2: 181,335,865		probably null	Het
Scn9a	A	G	2: 66,484,586	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879		probably benign	Het
Sox8	T	C	17: 25,567,883	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468	A405V	probably benign	Het
Uvrag	G	T	7: 99,065,820	Y190*	probably null	Het
Vps13d	A	T	4: 145,099,983	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297	F125L	probably benign	Het

Other mutations in Hoxa13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
H8786:Hoxa13	UTSW	6	52260636	frame shift	probably null
PIT4131001:Hoxa13	UTSW	6	52260647	utr 5 prime	probably benign
PIT4131001:Hoxa13	UTSW	6	52260648	utr 5 prime	probably benign
PIT4142001:Hoxa13	UTSW	6	52260647	utr 5 prime	probably benign
PIT4142001:Hoxa13	UTSW	6	52260648	utr 5 prime	probably benign
R0458:Hoxa13	UTSW	6	52260635	frame shift	probably null
R0496:Hoxa13	UTSW	6	52260635	frame shift	probably null
R0502:Hoxa13	UTSW	6	52260635	frame shift	probably null
R0512:Hoxa13	UTSW	6	52260635	frame shift	probably null
R0784:Hoxa13	UTSW	6	52259937	missense	probably damaging	0.98
R1062:Hoxa13	UTSW	6	52260635	frame shift	probably null
R1157:Hoxa13	UTSW	6	52260635	frame shift	probably null
R1192:Hoxa13	UTSW	6	52260635	frame shift	probably null
R1310:Hoxa13	UTSW	6	52260635	frame shift	probably null
R1341:Hoxa13	UTSW	6	52260635	frame shift	probably null
R1343:Hoxa13	UTSW	6	52260635	frame shift	probably null
R1398:Hoxa13	UTSW	6	52260647	utr 5 prime	probably benign
R1400:Hoxa13	UTSW	6	52260647	utr 5 prime	probably benign
R1400:Hoxa13	UTSW	6	52260648	utr 5 prime	probably benign
R1450:Hoxa13	UTSW	6	52260647	utr 5 prime	probably benign
R1450:Hoxa13	UTSW	6	52260648	utr 5 prime	probably benign
R1632:Hoxa13	UTSW	6	52259937	missense	probably damaging	0.98
R2382:Hoxa13	UTSW	6	52259145	missense	probably damaging	0.98
R3149:Hoxa13	UTSW	6	52260304	intron	probably benign
R4012:Hoxa13	UTSW	6	52259127	missense	possibly damaging	0.47
R4426:Hoxa13	UTSW	6	52260729	utr 5 prime	probably benign
R5535:Hoxa13	UTSW	6	52260540	frame shift	probably null
R6175:Hoxa13	UTSW	6	52259928	missense	probably damaging	0.98
R7365:Hoxa13	UTSW	6	52259882	missense	probably damaging	1.00
R7770:Hoxa13	UTSW	6	52260267	critical splice acceptor site	probably benign
R7926:Hoxa13	UTSW	6	52260636	frame shift	probably null
R7931:Hoxa13	UTSW	6	52260637	frame shift	probably null
R8960:Hoxa13	UTSW	6	52259996	missense	probably benign	0.03
R8982:Hoxa13	UTSW	6	52258936	nonsense	probably null
R9060:Hoxa13	UTSW	6	52259917	missense	probably damaging	1.00
R9698:Hoxa13	UTSW	6	52259044	missense	probably benign	0.00
X0018:Hoxa13	UTSW	6	52260119	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