Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4142001:Hoxa13'

486925

Institutional Source

Beutler Lab

Gene Symbol

Hoxa13

Ensembl Gene

ENSMUSG00000038203

Gene Name

homeobox A13

Synonyms

Hox-1.10

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4142001 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

52257694-52260880 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to G at 52260647 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125221 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000047993
AA Change: R43P

SMART Domains

Protein: ENSMUSP00000039170
Gene: ENSMUSG00000038203
AA Change: R43P

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (105/114)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	G	A	1: 85,099,620	A75V	probably benign	Het
Abcg5	T	G	17: 84,673,594	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,461,855	E43G	probably damaging	Het
Ap1b1	T	G	11: 5,040,360	L872W	probably damaging	Het
Arid1b	T	A	17: 5,339,243	M1688K	probably damaging	Het
AW822073	A	G	10: 58,223,454	C493R	probably benign	Het
AW822073	G	C	10: 58,223,456	P492R	probably damaging	Het
AW822073	G	A	10: 58,224,314		probably benign	Het
AW822073	C	T	10: 58,224,882	E17K	possibly damaging	Het
Brca1	T	C	11: 101,522,422		probably benign	Het
C130026I21Rik	A	C	1: 85,245,674		probably benign	Het
C4b	C	T	17: 34,733,701	V1151I	probably benign	Het
Card6	T	A	15: 5,098,631	Q1094H	unknown	Het
Cd22	C	A	7: 30,877,799	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 180,031,560	N109I	probably damaging	Het
Ces2b	T	C	8: 104,836,810	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,968,311	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,684,956		probably benign	Het
Cyp4a10	C	A	4: 115,524,875	H251Q	probably damaging	Het
Dcc	A	T	18: 71,384,226		probably null	Het
Dnaaf5	A	G	5: 139,185,518	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,238,473	T46A	probably damaging	Het
Duxf3	C	A	10: 58,231,168	C503F	probably damaging	Het
Duxf3	A	C	10: 58,231,676	S27A	probably benign	Het
Duxf3	C	A	10: 58,230,988	R563M	probably damaging	Het
Eps8l1	G	A	7: 4,471,415	S295N	probably benign	Het
Etfdh	C	T	3: 79,609,867	S345N	probably damaging	Het
Fat3	A	G	9: 15,992,118		probably null	Het
G530012D18Rik	T	G	1: 85,577,204		probably benign	Het
Gabra4	T	C	5: 71,571,763	N558S	probably damaging	Het
Gm10471	A	T	5: 26,086,487	F107Y	probably benign	Het
Gm10471	C	G	5: 26,089,095	W28C	probably damaging	Het
Gm10718	A	T	9: 3,024,417	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350	L142S	probably benign	Het
Gm10800	A	C	2: 98,666,548	F220C	probably benign	Het
Gm10800	T	C	2: 98,666,818	R152G	probably benign	Het
Gm10800	C	A	2: 98,666,905	V123F	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,667,016		probably null	Het
Gm10801	A	G	2: 98,662,303	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605	P49S	probably benign	Het
Gm21663	C	T	5: 25,938,769	R185H	probably benign	Het
Gm21738	G	A	14: 19,417,330	S66L	probably benign	Het
Gm4064	T	A	Y: 2,787,132	N228Y	probably benign	Het
Gm7682	A	C	5: 94,446,784	K168Q	probably benign	Het
Gpr107	T	A	2: 31,167,071	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,931,483		probably null	Het
Hc	C	T	2: 35,031,821		probably benign	Het
Hjurp	A	C	1: 88,266,046	V380G	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,266,278		probably benign	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Hjurp	T	C	1: 88,266,616	E190G	probably benign	Het
Hnrnpa2b1	A	T	6: 51,464,109	M327K	probably benign	Het
Ifi206	A	G	1: 173,481,164	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,117,383	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,572,301		probably benign	Het
Kndc1	TC	T	7: 139,923,776		probably null	Het
Lig1	GC	G	7: 13,305,924		probably null	Het
Lrit1	A	G	14: 37,062,041	Y442C	probably damaging	Het
Map3k21	C	A	8: 125,937,308	P536H	probably damaging	Het
March10	T	A	11: 105,390,520	Y313F	probably benign	Het
Mcm5	A	G	8: 75,127,236	H706R	probably benign	Het
Mlycd	T	G	8: 119,410,460	I473S	probably damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676		probably benign	Het
Muc4	T	A	16: 32,755,684		probably benign	Het
Myo5c	T	C	9: 75,283,948	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,143		probably null	Het
Ndufs1	A	G	1: 63,159,748		probably benign	Het
Olfr732	A	G	14: 50,281,327	*309Q	probably null	Het
Pak2	A	T	16: 32,023,112	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,527,105	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,343,391	E286G	probably benign	Het
Plekhn1	G	A	4: 156,224,940	R196*	probably null	Het
Prdm10	T	A	9: 31,325,767	D145E	probably benign	Het
Ptgis	T	C	2: 167,206,830	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,430,422	E132G	probably benign	Het
Rasgrf1	G	A	9: 89,915,573	R168H	possibly damaging	Het
Rpl5	T	C	5: 107,907,183		probably benign	Het
Ryr2	T	C	13: 11,707,796	K2603E	probably damaging	Het
Sap130	T	C	18: 31,667,011		probably null	Het
Scn5a	C	A	9: 119,486,258	D1794Y	probably damaging	Het
Sec31a	A	T	5: 100,407,275	S29T	probably damaging	Het
Selplg	T	G	5: 113,819,628	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,816,757		probably null	Het
Sirpb1a	A	T	3: 15,411,198	F180I	probably benign	Het
Slc44a4	A	G	17: 34,921,275	I67V	probably damaging	Het
Sp110	C	T	1: 85,586,250	R262Q	probably benign	Het
Sp110	T	C	1: 85,586,254	R261G	probably benign	Het
Sp140	T	A	1: 85,601,172	Y5N	probably benign	Het
Sp140	G	C	1: 85,610,882	K113N	probably benign	Het
Sp140	A	G	1: 85,643,221	S461G	probably benign	Het
Stab2	A	T	10: 86,867,175	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,658,230	V642A	possibly damaging	Het
Tfam	T	C	10: 71,234,983	K63R	possibly damaging	Het
Trim2	T	C	3: 84,190,857	N379S	probably benign	Het
Trp63	C	T	16: 25,865,263	T300I	probably damaging	Het
Tymp	C	A	15: 89,376,345	W90L	probably damaging	Het
Ubr5	A	G	15: 38,041,909	S148P	probably damaging	Het
Ugt1a10	TTCA	T	1: 88,216,158		probably benign	Het
Usp47	T	C	7: 112,104,341		probably benign	Het
Uvssa	C	T	5: 33,392,084	A363V	probably benign	Het
Vldlr	T	A	19: 27,234,869	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,691	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774	V178I	probably benign	Het
Vmn1r67	T	A	7: 10,446,950	M47K	probably benign	Het
Vmn1r87	A	T	7: 13,132,185	H58Q	probably benign	Het
Vmn1r89	A	G	7: 13,219,588	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,554,577		probably null	Het
Xirp2	T	C	2: 67,519,362		probably benign	Het
Zbtb2	A	G	10: 4,369,493	S178P	probably benign	Het
Zfp534	C	T	4: 147,675,574	E213K	probably benign	Het
Zfp534	C	A	4: 147,678,313	D21Y	probably benign	Het
Zfp804b	C	T	5: 6,769,422	V1214I	probably damaging	Het
Zfp82	G	T	7: 30,057,276	T63K	probably damaging	Het
Zfp986	C	T	4: 145,898,943	R58C	probably benign	Het
Zfp992	C	T	4: 146,466,112	P97S	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	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
R1398:Hoxa13	UTSW	6	52260648	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
X0018:Hoxa13	UTSW	6	52260119	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AGGGACTGCACTGCTTGG -3'
(R):5'- GCCTCCCGCTTTGCATACG -3'

Sequencing Primer
(F):5'- CACTGCTTGGCGGCCTC -3'
(R):5'- CACTTCTTGGGGGCTTTTTAAAACAG -3'

Posted On

2017-09-21