Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Hoxa11'

655695

Institutional Source

Beutler Lab

Gene Symbol

Hoxa11

Ensembl Gene

ENSMUSG00000038210

Gene Name

homeobox A11

Synonyms

Hoxa-11, Hox-1.9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52242106-52245810 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 52245802 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112872 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048026

SMART Domains

Protein: ENSMUSP00000040920
Gene: ENSMUSG00000038210

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	probably damaging	Het

Other mutations in Hoxa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Hoxa11	APN	6	52245317	missense	probably damaging	1.00
R1483:Hoxa11	UTSW	6	52243456	missense	probably damaging	1.00
R4077:Hoxa11	UTSW	6	52245524	missense	probably damaging	1.00
R4665:Hoxa11	UTSW	6	52243503	missense	probably damaging	1.00
R5772:Hoxa11	UTSW	6	52245400	missense	possibly damaging	0.46
R6195:Hoxa11	UTSW	6	52245701	missense	probably damaging	1.00
R7593:Hoxa11	UTSW	6	52243544	missense	probably damaging	1.00
R7681:Hoxa11	UTSW	6	52245119	missense	probably benign
R7732:Hoxa11	UTSW	6	52243435	missense	probably damaging	1.00
Z1177:Hoxa11	UTSW	6	52245110	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAAATCTGGACCCGAGACG -3'
(R):5'- ACGTGCTTTCGGTGAGAAC -3'

Sequencing Primer
(F):5'- CGTAGTAAGTACAACTTGGCAAATAC -3'
(R):5'- AACATCGGGTCACATGAC -3'

Posted On

2020-10-20