Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Hoxd11'

721885

Institutional Source

Beutler Lab

Gene Symbol

Hoxd11

Ensembl Gene

ENSMUSG00000042499

Gene Name

homeobox D11

Synonyms

Hox-5.5, E230017H14Rik, Hox-5.4, Hox-4.6

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

R9570 (G1)

Quality Score

176.009

Status

Not validated

Chromosome

Chromosomal Location

74509902-74517360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74512812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 26 (S26P)

Ref Sequence

ENSEMBL: ENSMUSP00000122582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001878] [ENSMUST00000142312]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001878

SMART Domains

Protein: ENSMUSP00000001878
Gene: ENSMUSG00000001823

Domain	Start	End	E-Value	Type
HOX	200	262	4.57e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142312
AA Change: S26P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122582
Gene: ENSMUSG00000042499
AA Change: S26P

Domain	Start	End	E-Value	Type
Pfam:DUF3528	26	80	5.4e-25	PFAM
Pfam:DUF3528	103	198	7.1e-21	PFAM
low complexity region	224	257	N/A	INTRINSIC
HOX	264	326	1.58e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations of sacral vertebrae, malformations of distal limbs, and reduced fertility in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,687 (GRCm39)	T26I	probably benign	Het
Adgrg7	A	G	16: 56,570,813 (GRCm39)	L405P	probably damaging	Het
Ankle1	A	G	8: 71,859,424 (GRCm39)	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,401,536 (GRCm39)	D1609E		Het
Anpep	A	G	7: 79,476,661 (GRCm39)	V772A	probably benign	Het
Anxa8	T	C	14: 33,814,509 (GRCm39)	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,882,772 (GRCm39)	F216S	probably damaging	Het
Aplf	T	A	6: 87,640,781 (GRCm39)	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,209 (GRCm39)	Y120F		Het
Atg2a	T	A	19: 6,305,749 (GRCm39)	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,361,822 (GRCm39)	F743S	probably benign	Het
Best1	A	T	19: 9,970,331 (GRCm39)	W94R	probably damaging	Het
Catsper3	T	C	13: 55,953,669 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,915,449 (GRCm39)	E68D	probably benign	Het
Col8a1	T	A	16: 57,448,539 (GRCm39)	I324F	unknown	Het
Coro1c	G	A	5: 114,003,816 (GRCm39)	R68*	probably null	Het
Dennd4c	A	G	4: 86,747,208 (GRCm39)	D1464G	possibly damaging	Het
Dgat2	C	T	7: 98,818,926 (GRCm39)	V77I	possibly damaging	Het
Ecpas	G	A	4: 58,832,796 (GRCm39)	R855*	probably null	Het
Ednra	A	C	8: 78,393,961 (GRCm39)	N378K	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,534 (GRCm39)	D132G	unknown	Het
Eml5	A	T	12: 98,782,243 (GRCm39)	D178E	probably benign	Het
Ethe1	G	T	7: 24,293,236 (GRCm39)		probably benign	Het
Fgf21	C	T	7: 45,264,594 (GRCm39)	R46Q	probably damaging	Het
Flt3	C	T	5: 147,309,424 (GRCm39)	V198M	possibly damaging	Het
Fryl	T	C	5: 73,179,498 (GRCm39)	N2970D	probably benign	Het
Gtf2e2	T	A	8: 34,252,076 (GRCm39)	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,294,627 (GRCm39)	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,596,382 (GRCm39)	G188R	probably damaging	Het
Gzmc	A	C	14: 56,469,042 (GRCm39)	S226A	probably benign	Het
Hhatl	A	T	9: 121,613,282 (GRCm39)	V471D	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,794 (GRCm39)	W69R	probably benign	Het
Kcnk3	T	C	5: 30,779,433 (GRCm39)	L161P	possibly damaging	Het
Klk6	A	G	7: 43,477,967 (GRCm39)	D113G	probably damaging	Het
Map3k5	A	G	10: 19,876,314 (GRCm39)	I158V	probably benign	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mcc	T	C	18: 44,578,925 (GRCm39)	R828G	probably damaging	Het
Muc4	A	T	16: 32,569,695 (GRCm39)	T252S	possibly damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nme7	A	G	1: 164,206,961 (GRCm39)	D282G	probably benign	Het
Npdc1	G	T	2: 25,298,312 (GRCm39)	A228S	probably benign	Het
Nrbp1	T	A	5: 31,401,272 (GRCm39)	S49R	probably damaging	Het
Ntan1	T	C	16: 13,637,248 (GRCm39)	V10A	possibly damaging	Het
Or10a3	A	G	7: 108,480,504 (GRCm39)	V103A	possibly damaging	Het
Or10b1	T	C	10: 78,356,084 (GRCm39)	V214A	probably benign	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Pdcd2l	T	C	7: 33,892,401 (GRCm39)	D156G	probably benign	Het
Pde11a	A	G	2: 75,877,157 (GRCm39)	S771P	probably damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,840,697 (GRCm39)	E1237V		Het
Pkp2	A	T	16: 16,078,278 (GRCm39)	T507S	possibly damaging	Het
Polm	A	G	11: 5,779,713 (GRCm39)	Y362H	probably damaging	Het
Pramel12	A	T	4: 143,144,514 (GRCm39)	M287L	probably benign	Het
Prcd	C	T	11: 116,550,583 (GRCm39)	S85F	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptger1	T	C	8: 84,395,461 (GRCm39)	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,227,217 (GRCm39)	E44G	probably damaging	Het
Rai1	A	G	11: 60,076,568 (GRCm39)	T211A	probably benign	Het
Rgl1	C	A	1: 152,430,082 (GRCm39)	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,007,087 (GRCm39)	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,597,978 (GRCm39)		probably null	Het
Selenon	C	T	4: 134,270,055 (GRCm39)	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,272,620 (GRCm39)	H368L	possibly damaging	Het
Slc9c1	A	T	16: 45,380,705 (GRCm39)	I544L	probably benign	Het
Smarca4	A	G	9: 21,580,849 (GRCm39)	E993G	probably damaging	Het
Stab1	T	A	14: 30,864,638 (GRCm39)	I1966F	probably benign	Het
Stard9	G	A	2: 120,534,714 (GRCm39)	S3657N	probably benign	Het
Tex15	G	A	8: 34,067,309 (GRCm39)	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,549,598 (GRCm39)	N264I	possibly damaging	Het
Use1	T	A	8: 71,820,473 (GRCm39)	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,659,236 (GRCm39)	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,614,718 (GRCm39)	I7V	probably benign	Het
Vps8	T	A	16: 21,462,953 (GRCm39)	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,300,006 (GRCm39)	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,088,844 (GRCm39)	T891I	probably benign	Het

Other mutations in Hoxd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00550:Hoxd11	APN	2	74,514,385 (GRCm39)	missense	probably damaging	1.00
R1202:Hoxd11	UTSW	2	74,512,921 (GRCm39)	missense	possibly damaging	0.92
R3895:Hoxd11	UTSW	2	74,513,136 (GRCm39)	missense	probably damaging	0.99
R3935:Hoxd11	UTSW	2	74,514,376 (GRCm39)	missense	probably benign	0.28
R5386:Hoxd11	UTSW	2	74,513,163 (GRCm39)	nonsense	probably null
R7322:Hoxd11	UTSW	2	74,514,355 (GRCm39)	missense	probably damaging	1.00
R7476:Hoxd11	UTSW	2	74,514,459 (GRCm39)	missense	probably damaging	0.96
R8060:Hoxd11	UTSW	2	74,512,720 (GRCm39)	start gained	probably benign
R8188:Hoxd11	UTSW	2	74,514,298 (GRCm39)	missense	probably damaging	1.00
R8315:Hoxd11	UTSW	2	74,513,466 (GRCm39)	missense	probably benign	0.00
R8697:Hoxd11	UTSW	2	74,513,013 (GRCm39)	missense	unknown
R8875:Hoxd11	UTSW	2	74,513,365 (GRCm39)	missense	probably benign	0.00
R9093:Hoxd11	UTSW	2	74,514,482 (GRCm39)	makesense	probably null
R9102:Hoxd11	UTSW	2	74,513,274 (GRCm39)	missense	possibly damaging	0.93
Z1177:Hoxd11	UTSW	2	74,512,759 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTTAGTTGATCCTGGCC -3'
(R):5'- GGAGCAGATCTCGTTGCATG -3'

Sequencing Primer
(F):5'- TAGTTGATCCTGGCCCAAGC -3'
(R):5'- ATCTCGTTGCATGGCCGC -3'

Posted On

2022-08-09