Mutagenetix > Incidental Mutation

Incidental Mutation 'R4077:Hoxa11'

316619

Institutional Source

Beutler Lab

Gene Symbol

Hoxa11

Ensembl Gene

ENSMUSG00000038210

Gene Name

homeobox A11

Synonyms

Hoxa-11, Hox-1.9

MMRRC Submission

041622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4077 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

52219086-52222784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52222504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 66 (Y66N)

Ref Sequence

ENSEMBL: ENSMUSP00000040920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048026] [ENSMUST00000121043]

AlphaFold

P31311

Predicted Effect

probably damaging
Transcript: ENSMUST00000048026
AA Change: Y66N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040920
Gene: ENSMUSG00000038210
AA Change: Y66N

Domain	Start	End	E-Value	Type
Pfam:DUF3528	26	168	4.7e-67	PFAM
low complexity region	172	226	N/A	INTRINSIC
HOX	241	303	9.56e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121043

SMART Domains

Protein: ENSMUSP00000112872
Gene: ENSMUSG00000000938

Domain	Start	End	E-Value	Type
HOX	20	82	1.15e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184301

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is important in the development of the skeleton, limbs, and urogenital tract. Expression of this gene may be regulated by overlapping transcription from an adjacent locus on the opposite strand (GeneID: 15397). [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations affecting thoracic and sacral vertebrae, and forelimb defects. Mutants are sterile due to malformed vas deferens and cryptorchism in males, and defective uteri in females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,379 (GRCm39)		probably null	Het
Adam33	T	C	2: 130,905,444 (GRCm39)		probably benign	Het
Adrm1b	A	C	3: 92,336,195 (GRCm39)		probably benign	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Atrn	T	C	2: 130,806,850 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cdnf	A	G	2: 3,522,060 (GRCm39)	Y84C	probably damaging	Het
Chdh	T	C	14: 29,757,297 (GRCm39)	S407P	probably damaging	Het
Cmtr1	C	A	17: 29,904,949 (GRCm39)	T300K	probably damaging	Het
Dennd2d	A	T	3: 106,389,939 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Eif1ad3	A	T	12: 87,843,710 (GRCm39)	D119V	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,079,496 (GRCm39)	T1195A	probably benign	Het
Ermard	T	A	17: 15,273,638 (GRCm39)	S408T	probably benign	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fnbp4	C	T	2: 90,588,821 (GRCm39)	R531*	probably null	Het
Gdf6	A	G	4: 9,844,776 (GRCm39)	Y100C	probably damaging	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Grm8	T	C	6: 27,760,208 (GRCm39)	H374R	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	A	G	11: 120,368,202 (GRCm39)	K277E	probably damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igdcc4	T	A	9: 65,039,047 (GRCm39)	L944Q	probably damaging	Het
Ighv3-1	C	A	12: 113,928,107 (GRCm39)	S84I	probably damaging	Het
Iqgap2	T	C	13: 95,794,375 (GRCm39)	D1199G	probably damaging	Het
Kcnk10	A	T	12: 98,401,205 (GRCm39)	M490K	probably benign	Het
Kirrel1	A	G	3: 86,992,387 (GRCm39)		probably null	Het
Lias	A	T	5: 65,552,768 (GRCm39)	T124S	probably benign	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,808 (GRCm39)	T2206S	unknown	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mis12	A	G	11: 70,916,134 (GRCm39)	T56A	probably benign	Het
Or10ag56	T	A	2: 87,139,208 (GRCm39)	M25K	probably null	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or4k41	A	G	2: 111,279,848 (GRCm39)	D121G	probably damaging	Het
Or5b99	T	C	19: 12,977,235 (GRCm39)	V295A	probably damaging	Het
Otof	A	T	5: 30,576,850 (GRCm39)	L134Q	possibly damaging	Het
Pds5b	T	A	5: 150,717,824 (GRCm39)	V1155E	possibly damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phyhipl	C	T	10: 70,404,903 (GRCm39)	V57I	probably damaging	Het
Plekha5	T	A	6: 140,501,647 (GRCm39)		probably null	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Proser1	A	G	3: 53,385,962 (GRCm39)	T615A	probably damaging	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rassf2	G	A	2: 131,854,522 (GRCm39)	P7S	probably benign	Het
Sart1	A	T	19: 5,432,771 (GRCm39)	L521Q	possibly damaging	Het
Scgb1b21	T	A	7: 33,227,118 (GRCm39)		noncoding transcript	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Secisbp2l	A	G	2: 125,593,785 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,522 (GRCm39)	E931G	probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tdrd1	A	G	19: 56,819,505 (GRCm39)	M2V	probably benign	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tram1	A	G	1: 13,636,599 (GRCm39)	V358A	probably benign	Het
Unc13c	C	T	9: 73,643,821 (GRCm39)	W1214*	probably null	Het
Vps13b	T	C	15: 35,455,274 (GRCm39)	C728R	probably damaging	Het
Wwox	A	G	8: 115,166,481 (GRCm39)		probably benign	Het
Zbtb41	G	A	1: 139,357,064 (GRCm39)	V440I	probably benign	Het
Zfp777	T	C	6: 48,002,456 (GRCm39)	S589G	probably benign	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	Het

Other mutations in Hoxa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Hoxa11	APN	6	52,222,297 (GRCm39)	missense	probably damaging	1.00
R1483:Hoxa11	UTSW	6	52,220,436 (GRCm39)	missense	probably damaging	1.00
R4665:Hoxa11	UTSW	6	52,220,483 (GRCm39)	missense	probably damaging	1.00
R5772:Hoxa11	UTSW	6	52,222,380 (GRCm39)	missense	possibly damaging	0.46
R6195:Hoxa11	UTSW	6	52,222,681 (GRCm39)	missense	probably damaging	1.00
R7593:Hoxa11	UTSW	6	52,220,524 (GRCm39)	missense	probably damaging	1.00
R7681:Hoxa11	UTSW	6	52,222,099 (GRCm39)	missense	probably benign
R7732:Hoxa11	UTSW	6	52,220,415 (GRCm39)	missense	probably damaging	1.00
R8508:Hoxa11	UTSW	6	52,222,782 (GRCm39)	unclassified	probably benign
R9608:Hoxa11	UTSW	6	52,222,224 (GRCm39)	missense	probably benign	0.00
Z1177:Hoxa11	UTSW	6	52,222,090 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGGTCGAAAGCCTGTG -3'
(R):5'- ATTTTGATGAGCGTGGTCCC -3'

Sequencing Primer
(F):5'- TGCCCACCGTGCTATAGAAATTG -3'
(R):5'- ATGAGCGTGGTCCCTGCTC -3'

Posted On

2015-05-15