Mutagenetix > Incidental Mutation

Incidental Mutation 'R6175:Hoxa13'

487683

Institutional Source

Beutler Lab

Gene Symbol

Hoxa13

Ensembl Gene

ENSMUSG00000038203

Gene Name

homeobox A13

Synonyms

Hox-1.10

MMRRC Submission

044317-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6175 (G1)

Quality Score

107.008

Status

Validated

Chromosome

Chromosomal Location

52235833-52237865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52236908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 281 (N281K)

Ref Sequence

ENSEMBL: ENSMUSP00000039170 (fasta)

Gene Model

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

AlphaFold

Q62424

Predicted Effect

probably damaging
Transcript: ENSMUST00000047993
AA Change: N281K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039170
Gene: ENSMUSG00000038203
AA Change: N281K

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

possibly damaging
Transcript: ENSMUST00000114416
AA Change: N117K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110059
Gene: ENSMUSG00000038203
AA Change: N117K

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 damaging
Transcript: ENSMUST00000147595
AA Change: N194K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125221
Gene: ENSMUSG00000038203
AA Change: N194K

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: ENSMUST00000184418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185112

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (85/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,902,448 (GRCm39)	K623E	probably damaging	Het
A530064D06Rik	T	A	17: 48,460,016 (GRCm39)	S227C	possibly damaging	Het
Adam30	A	T	3: 98,070,266 (GRCm39)	I700F	probably damaging	Het
Adam5	A	T	8: 25,276,167 (GRCm39)	M500K	probably benign	Het
Adgb	A	T	10: 10,274,687 (GRCm39)	S755T	possibly damaging	Het
Adgrv1	C	T	13: 81,534,124 (GRCm39)	G5819D	probably damaging	Het
Ank3	T	A	10: 69,763,557 (GRCm39)	Y17N	probably damaging	Het
Ano2	A	T	6: 125,969,918 (GRCm39)	M745L	probably benign	Het
Arap2	A	G	5: 62,872,074 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,291,759 (GRCm39)		probably benign	Het
AU021092	G	T	16: 5,038,312 (GRCm39)		probably null	Het
Bbs1	A	T	19: 4,940,749 (GRCm39)	L578Q	probably damaging	Het
Brd9	A	T	13: 74,108,433 (GRCm39)	E589D	probably damaging	Het
Calr4	A	G	4: 109,101,442 (GRCm39)	D108G	probably benign	Het
Ccdc82	A	G	9: 13,272,798 (GRCm39)	D429G	probably damaging	Het
Cdh22	G	T	2: 164,988,550 (GRCm39)	N268K	probably damaging	Het
Ceacam12	G	A	7: 17,801,312 (GRCm39)	G97D	probably damaging	Het
Clcn1	A	G	6: 42,291,096 (GRCm39)	D990G	probably damaging	Het
Cyp2c40	T	C	19: 39,801,004 (GRCm39)	T84A	probably benign	Het
Dnah7a	G	A	1: 53,472,181 (GRCm39)	P3529S	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Efna3	GAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGC	3: 89,230,105 (GRCm39)		probably benign	Het
Ehd2	G	A	7: 15,697,389 (GRCm39)	Q4*	probably null	Het
Eml5	A	G	12: 98,760,715 (GRCm39)	V1726A	possibly damaging	Het
Esam	A	G	9: 37,439,544 (GRCm39)	T10A	probably benign	Het
Fbxl6	A	G	15: 76,422,633 (GRCm39)	L95P	probably benign	Het
Fbxw18	T	A	9: 109,505,947 (GRCm39)	L441F	probably damaging	Het
Fbxw4	A	G	19: 45,624,766 (GRCm39)	S73P	probably benign	Het
Fndc1	T	A	17: 7,991,479 (GRCm39)	H739L	unknown	Het
Foxp1	G	A	6: 98,943,037 (GRCm39)	T237I	probably damaging	Het
Greb1	A	T	12: 16,724,771 (GRCm39)	I1801N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hspg2	A	G	4: 137,296,829 (GRCm39)	T4328A	probably damaging	Het
Htr2a	C	G	14: 74,882,474 (GRCm39)	Y153*	probably null	Het
Iglv1	C	A	16: 18,903,844 (GRCm39)	A92S	probably damaging	Het
Itih1	A	G	14: 30,653,152 (GRCm39)	S759P	probably damaging	Het
Kctd1	G	T	18: 15,102,688 (GRCm39)	S831*	probably null	Het
Kif20a	T	A	18: 34,761,199 (GRCm39)	S265T	probably damaging	Het
Kif22	T	A	7: 126,630,228 (GRCm39)	E436V	possibly damaging	Het
Kif27	A	G	13: 58,459,051 (GRCm39)	W927R	probably damaging	Het
Lcorl	G	A	5: 45,933,832 (GRCm39)	P66L	probably damaging	Het
Lct	A	G	1: 128,255,451 (GRCm39)	L197P	probably damaging	Het
Lefty1	T	C	1: 180,762,714 (GRCm39)	S14P	unknown	Het
Lnp1	A	G	16: 56,737,855 (GRCm39)	S78P	possibly damaging	Het
Map3k19	A	T	1: 127,750,569 (GRCm39)	H927Q	probably benign	Het
Meiosin	C	A	7: 18,834,814 (GRCm39)		probably benign	Het
Mta3	A	G	17: 84,099,222 (GRCm39)	T430A	probably benign	Het
Muc2	G	T	7: 141,282,875 (GRCm39)	C627F	probably damaging	Het
Myh13	A	G	11: 67,245,588 (GRCm39)	D1076G	probably benign	Het
Nck2	T	A	1: 43,572,729 (GRCm39)	M1K	probably null	Het
Nipal1	A	G	5: 72,820,898 (GRCm39)	N131S	probably damaging	Het
Nlrp9c	T	C	7: 26,077,426 (GRCm39)		probably null	Het
Nr2f2	A	G	7: 70,007,946 (GRCm39)	S179P	probably damaging	Het
Or1j16	A	G	2: 36,530,063 (GRCm39)	D4G	probably benign	Het
Or1j21	A	T	2: 36,683,980 (GRCm39)	H244L	probably damaging	Het
Or9g19	A	T	2: 85,600,652 (GRCm39)	N169I	probably benign	Het
Oxt	G	T	2: 130,418,163 (GRCm39)		probably benign	Het
Pank2	T	A	2: 131,122,181 (GRCm39)	Y235*	probably null	Het
Pear1	A	G	3: 87,659,440 (GRCm39)	L798P	possibly damaging	Het
Pex14	T	C	4: 149,046,156 (GRCm39)	H258R	probably benign	Het
Pmpcb	A	G	5: 21,962,031 (GRCm39)	I487V	probably benign	Het
Ppie	T	C	4: 123,031,362 (GRCm39)	E44G	probably benign	Het
Ppp1r9a	A	T	6: 4,905,639 (GRCm39)	R65*	probably null	Het
Ralgapb	T	C	2: 158,288,075 (GRCm39)	S371P	probably damaging	Het
Ros1	T	C	10: 51,977,881 (GRCm39)	H1455R	probably benign	Het
Sacs	C	A	14: 61,450,275 (GRCm39)	T4107K	possibly damaging	Het
Sec24a	G	A	11: 51,622,718 (GRCm39)	T386M	probably damaging	Het
Slc10a4	A	T	5: 73,169,593 (GRCm39)	Y207F	possibly damaging	Het
Slc30a10	T	C	1: 185,187,508 (GRCm39)	L83P	probably damaging	Het
Slc38a9	T	A	13: 112,840,093 (GRCm39)	L324*	probably null	Het
Slc7a9	A	T	7: 35,165,277 (GRCm39)	Q474L	probably damaging	Het
Smc5	C	A	19: 23,191,534 (GRCm39)	V875L	possibly damaging	Het
Snap91	T	C	9: 86,707,053 (GRCm39)	R246G	probably damaging	Het
Sned1	A	G	1: 93,203,196 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,938 (GRCm39)	G85E	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
St13	A	G	15: 81,283,506 (GRCm39)		probably null	Het
Stk10	A	G	11: 32,553,761 (GRCm39)	M593V	possibly damaging	Het
Tafa1	A	G	6: 96,092,721 (GRCm39)	H35R	probably benign	Het
Tex21	C	A	12: 76,245,707 (GRCm39)	A530S	probably benign	Het
Tln2	T	A	9: 67,131,363 (GRCm39)	K1394N	probably damaging	Het
Trhr2	C	A	8: 123,084,118 (GRCm39)	R294L	probably damaging	Het
Unc79	A	T	12: 103,149,708 (GRCm39)	I2408F	probably damaging	Het
Wdr24	T	C	17: 26,045,552 (GRCm39)	L429P	probably damaging	Het
Wwp2	T	A	8: 108,210,039 (GRCm39)	I139N	possibly damaging	Het
Zfp111	G	A	7: 23,897,554 (GRCm39)	R686C	unknown	Het
Zfp268	A	T	4: 145,350,811 (GRCm39)		probably benign	Het
Zyg11a	A	G	4: 108,046,878 (GRCm39)	V532A	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	52,260,648 (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
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'- TTGGAACCCACAAGCTTCCTC -3'
(R):5'- CTTTCTACCATCAGGGCTACG -3'

Sequencing Primer
(F):5'- TTTACCAAAGGAGGGCCCG -3'
(R):5'- TACGCAGCCGGGCCTTAC -3'

Posted On

2017-10-10