Mutagenetix > Incidental Mutation

Incidental Mutation 'R5772:Hoxa11'

445441

Institutional Source

Beutler Lab

Gene Symbol

Hoxa11

Ensembl Gene

ENSMUSG00000038210

Gene Name

homeobox A11

Synonyms

Hoxa-11, Hox-1.9

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R5772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52219086-52222784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52222380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000040920 (fasta)

Gene Model

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

AlphaFold

P31311

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048026
AA Change: V107A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040920
Gene: ENSMUSG00000038210
AA Change: V107A

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: ENSMUST00000184301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156515

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932416K20Rik	G	A	8: 105,524,271 (GRCm39)		noncoding transcript	Het
Abcg8	A	T	17: 84,994,127 (GRCm39)	E48V	probably damaging	Het
Afap1l2	T	C	19: 56,911,406 (GRCm39)	T289A	probably benign	Het
Atf6	T	A	1: 170,574,758 (GRCm39)	D560V	probably damaging	Het
Bcl2l14	A	T	6: 134,404,362 (GRCm39)	K183N	probably damaging	Het
Carmil3	T	C	14: 55,730,696 (GRCm39)	L52P	probably damaging	Het
Cct3	T	A	3: 88,208,274 (GRCm39)	N61K	probably damaging	Het
Col18a1	A	G	10: 77,002,177 (GRCm39)	V10A	unknown	Het
Col26a1	G	A	5: 136,876,420 (GRCm39)	Q67*	probably null	Het
Cyp2d34	T	C	15: 82,501,341 (GRCm39)	D329G	probably null	Het
Dchs1	T	A	7: 105,422,247 (GRCm39)	I58F	probably damaging	Het
Ddx60	T	C	8: 62,401,931 (GRCm39)	L269P	probably damaging	Het
Dis3l2	G	A	1: 86,806,154 (GRCm39)	G325D	probably damaging	Het
Dync1h1	A	T	12: 110,612,707 (GRCm39)	K2861*	probably null	Het
Ednra	A	G	8: 78,401,696 (GRCm39)	I198T	possibly damaging	Het
Ep300	T	C	15: 81,524,115 (GRCm39)		probably benign	Het
Fam120a	G	A	13: 49,034,409 (GRCm39)	P1068S	probably benign	Het
Fsip2	A	T	2: 82,815,084 (GRCm39)	M3606L	probably benign	Het
Garre1	A	T	7: 33,953,413 (GRCm39)	W238R	probably damaging	Het
Gm7713	T	C	15: 59,866,492 (GRCm39)		noncoding transcript	Het
Gprin3	A	T	6: 59,331,398 (GRCm39)	V303D	possibly damaging	Het
Hmcn1	A	T	1: 150,570,629 (GRCm39)	V2178D	possibly damaging	Het
Iqub	C	A	6: 24,454,250 (GRCm39)	M544I	possibly damaging	Het
Itgb4	A	T	11: 115,879,258 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,161,818 (GRCm39)		probably benign	Het
Kalrn	A	T	16: 33,796,190 (GRCm39)	V1195E	probably damaging	Het
Kif12	C	A	4: 63,084,178 (GRCm39)	R608M	probably damaging	Het
Lcorl	A	T	5: 45,952,709 (GRCm39)		probably null	Het
Lrrc24	T	C	15: 76,606,910 (GRCm39)	E162G	probably damaging	Het
Med6	A	G	12: 81,626,418 (GRCm39)	S119P	probably damaging	Het
Mmab	A	C	5: 114,574,775 (GRCm39)	L166R	probably damaging	Het
Myef2l	A	G	3: 10,153,566 (GRCm39)	R112G	probably damaging	Het
Nom1	A	G	5: 29,651,873 (GRCm39)	K737R	possibly damaging	Het
Obscn	T	C	11: 58,946,970 (GRCm39)	S4352G	probably damaging	Het
Or10ag60	A	T	2: 87,438,517 (GRCm39)	T262S	probably benign	Het
Or2w25	T	A	11: 59,504,712 (GRCm39)	D307E	probably benign	Het
Or4k35	A	T	2: 111,100,057 (GRCm39)	Y218*	probably null	Het
Or6d12	A	C	6: 116,492,912 (GRCm39)	D58A	possibly damaging	Het
Pdzrn3	G	A	6: 101,149,275 (GRCm39)	S351L	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Prkdc	T	A	16: 15,597,252 (GRCm39)	I2804K	possibly damaging	Het
Psg28	A	G	7: 18,164,640 (GRCm39)	L24P	probably damaging	Het
Resp18	A	G	1: 75,250,644 (GRCm39)	V145A	possibly damaging	Het
Rgl3	T	C	9: 21,892,908 (GRCm39)	M259V	probably benign	Het
Rhot2	A	T	17: 26,058,781 (GRCm39)	S540T	probably benign	Het
Ring1	T	C	17: 34,241,282 (GRCm39)	Y278C	possibly damaging	Het
Rpn2	A	G	2: 157,137,265 (GRCm39)	Y216C	probably damaging	Het
Scgb2b18	G	A	7: 32,873,255 (GRCm39)	L5F	unknown	Het
Slamf7	T	C	1: 171,466,838 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,590,479 (GRCm39)	N237S	possibly damaging	Het
Spen	A	T	4: 141,205,495 (GRCm39)	V1044D	unknown	Het
Sqor	A	T	2: 122,651,261 (GRCm39)	M175L	probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tars3	T	G	7: 65,333,873 (GRCm39)	F632V	probably damaging	Het
Tln1	A	G	4: 43,545,191 (GRCm39)	V1008A	probably benign	Het
Tmem145	A	G	7: 25,015,039 (GRCm39)	H554R	probably benign	Het
Trank1	A	T	9: 111,195,744 (GRCm39)	D1256V	possibly damaging	Het
Trbv19	A	G	6: 41,155,794 (GRCm39)	Y55C	possibly damaging	Het
Ttc23l	C	T	15: 10,551,555 (GRCm39)	C57Y	probably benign	Het
Uap1	A	T	1: 169,988,949 (GRCm39)	C158S	probably benign	Het
Zfp353-ps	T	A	8: 42,535,647 (GRCm39)		noncoding transcript	Het
Zfp629	T	A	7: 127,210,307 (GRCm39)	I501F	probably damaging	Het
Zfp820	T	C	17: 22,037,702 (GRCm39)	Y542C	probably damaging	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
R4077:Hoxa11	UTSW	6	52,222,504 (GRCm39)	missense	probably damaging	1.00
R4665:Hoxa11	UTSW	6	52,220,483 (GRCm39)	missense	probably damaging	1.00
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'- CTTTCATAAAGCGCTGGGC -3'
(R):5'- TCGCGCCCAATGACATACTC -3'

Sequencing Primer
(F):5'- TCCGAACTTGAAGTTGCCG -3'
(R):5'- GACATACTCCTACTCCTCCAACCTG -3'

Posted On

2016-11-21