Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4142001:Hoxa13'

486926

Institutional Source

Beutler Lab

Gene Symbol

Hoxa13

Ensembl Gene

ENSMUSG00000038203

Gene Name

homeobox A13

Synonyms

Hox-1.10

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4142001 (G1)

Quality Score

162

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: 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
Abcg5	T	G	17: 84,981,022 (GRCm39)	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,914,499 (GRCm39)	E43G	probably damaging	Het
Ap1b1	T	G	11: 4,990,360 (GRCm39)	L872W	probably damaging	Het
Arid1b	T	A	17: 5,389,518 (GRCm39)	M1688K	probably damaging	Het
Brca1	T	C	11: 101,413,248 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,952,675 (GRCm39)	V1151I	probably benign	Het
Card6	T	A	15: 5,128,113 (GRCm39)	Q1094H	unknown	Het
Cd22	C	A	7: 30,577,224 (GRCm39)	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 179,859,125 (GRCm39)	N109I	probably damaging	Het
Ces2b	T	C	8: 105,563,442 (GRCm39)	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,674,072 (GRCm39)	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,612,686 (GRCm39)		probably benign	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dcc	A	T	18: 71,517,297 (GRCm39)		probably null	Het
Dnaaf5	A	G	5: 139,171,273 (GRCm39)	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,115,672 (GRCm39)	T46A	probably damaging	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	G	C	10: 58,059,278 (GRCm39)	P492R	probably damaging	Het
Duxf3	C	A	10: 58,066,990 (GRCm39)	C503F	probably damaging	Het
Duxf3	C	A	10: 58,066,810 (GRCm39)	R563M	probably damaging	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Etfdh	C	T	3: 79,517,174 (GRCm39)	S345N	probably damaging	Het
Fat3	A	G	9: 15,903,414 (GRCm39)		probably null	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gabra4	T	C	5: 71,729,106 (GRCm39)	N558S	probably damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350 (GRCm39)	L142S	probably benign	Het
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Het
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,497,361 (GRCm39)		probably null	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Gm21663	C	T	5: 26,143,767 (GRCm39)	R185H	probably benign	Het
Gm21738	G	A	14: 19,417,330 (GRCm38)	S66L	probably benign	Het
Gpr107	T	A	2: 31,057,083 (GRCm39)	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,838,799 (GRCm39)		probably null	Het
Hc	C	T	2: 34,921,833 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,089 (GRCm39)	M327K	probably benign	Het
Ifi206	A	G	1: 173,308,730 (GRCm39)	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,094,317 (GRCm39)	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,479,608 (GRCm39)		probably benign	Het
Kndc1	TC	T	7: 139,503,692 (GRCm39)		probably null	Het
Lig1	GC	G	7: 13,039,850 (GRCm39)		probably null	Het
Lrit1	A	G	14: 36,783,998 (GRCm39)	Y442C	probably damaging	Het
Map3k21	C	A	8: 126,664,047 (GRCm39)	P536H	probably damaging	Het
Marchf10	T	A	11: 105,281,346 (GRCm39)	Y313F	probably benign	Het
Mcm5	A	G	8: 75,853,864 (GRCm39)	H706R	probably benign	Het
Mlycd	T	G	8: 120,137,199 (GRCm39)	I473S	probably damaging	Het
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Het
Myo5c	T	C	9: 75,191,230 (GRCm39)	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,198,907 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,784 (GRCm39)	*309Q	probably null	Het
Pak2	A	T	16: 31,841,930 (GRCm39)	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,417,931 (GRCm39)	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,077,316 (GRCm39)	E286G	probably benign	Het
Plekhn1	G	A	4: 156,309,397 (GRCm39)	R196*	probably null	Het
Pramel41	A	C	5: 94,594,643 (GRCm39)	K168Q	probably benign	Het
Prdm10	T	A	9: 31,237,063 (GRCm39)	D145E	probably benign	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,272,342 (GRCm39)	E132G	probably benign	Het
Rasgrf1	G	A	9: 89,797,626 (GRCm39)	R168H	possibly damaging	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rpl5	T	C	5: 108,055,049 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,722,682 (GRCm39)	K2603E	probably damaging	Het
Sap130	T	C	18: 31,800,064 (GRCm39)		probably null	Het
Scn5a	C	A	9: 119,315,324 (GRCm39)	D1794Y	probably damaging	Het
Sec31a	A	T	5: 100,555,134 (GRCm39)	S29T	probably damaging	Het
Selplg	T	G	5: 113,957,689 (GRCm39)	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,538,714 (GRCm39)		probably null	Het
Sirpb1a	A	T	3: 15,476,258 (GRCm39)	F180I	probably benign	Het
Slc44a4	A	G	17: 35,140,251 (GRCm39)	I67V	probably damaging	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Stab2	A	T	10: 86,703,039 (GRCm39)	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,494,099 (GRCm39)	V642A	possibly damaging	Het
Tfam	T	C	10: 71,070,813 (GRCm39)	K63R	possibly damaging	Het
Trim2	T	C	3: 84,098,164 (GRCm39)	N379S	probably benign	Het
Trp63	C	T	16: 25,684,013 (GRCm39)	T300I	probably damaging	Het
Tymp	C	A	15: 89,260,548 (GRCm39)	W90L	probably damaging	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Ugt1a10	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,703,548 (GRCm39)		probably benign	Het
Uvssa	C	T	5: 33,549,428 (GRCm39)	A363V	probably benign	Het
Vldlr	T	A	19: 27,212,269 (GRCm39)	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn1r67	T	A	7: 10,180,877 (GRCm39)	M47K	probably benign	Het
Vmn1r87	A	T	7: 12,866,112 (GRCm39)	H58Q	probably benign	Het
Vmn1r89	A	G	7: 12,953,515 (GRCm39)	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,774,839 (GRCm39)		probably null	Het
Xirp2	T	C	2: 67,349,706 (GRCm39)		probably benign	Het
Zbtb2	A	G	10: 4,319,493 (GRCm39)	S178P	probably benign	Het
Zfp534	C	A	4: 147,762,770 (GRCm39)	D21Y	probably benign	Het
Zfp534	C	T	4: 147,760,031 (GRCm39)	E213K	probably benign	Het
Zfp804b	C	T	5: 6,819,422 (GRCm39)	V1214I	probably damaging	Het
Zfp82	G	T	7: 29,756,701 (GRCm39)	T63K	probably damaging	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	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	52,260,647 (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	52,260,648 (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'- AGGGACTGCACTGCTTGG -3'
(R):5'- GCCTCCCGCTTTGCATACG -3'

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

Posted On

2017-09-21