Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Hoxd10'

30672

Institutional Source

Beutler Lab

Gene Symbol

Hoxd10

Ensembl Gene

ENSMUSG00000050368

Gene Name

homeobox D10

Synonyms

Hox-5.3, Hox-4.5

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74522268-74525449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74523064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 247 (S247R)

Ref Sequence

ENSEMBL: ENSMUSP00000062412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061745]

AlphaFold

P28359

Predicted Effect

probably benign
Transcript: ENSMUST00000061745
AA Change: S247R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: S247R

Domain	Start	End	E-Value	Type
low complexity region	24	43	N/A	INTRINSIC
HOX	266	328	3.3e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126966

SMART Domains

Protein: ENSMUSP00000133930
Gene: ENSMUSG00000086077

Domain	Start	End	E-Value	Type
low complexity region	23	42	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190845

Meta Mutation Damage Score

0.2557

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit an abnormal gait associated with defects in sacral vertebrae (including homeotic transformations), hindlimb bones, and muscle innervation. These defects are sometimes seen in heterozygotes as well. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	T	A	11: 25,719,092 (GRCm39)	Y17F	unknown	Het
Aars2	A	G	17: 45,825,476 (GRCm39)	D313G	probably damaging	Het
Abca9	A	T	11: 110,006,273 (GRCm39)	D1277E	probably benign	Het
Adgrl1	G	T	8: 84,661,530 (GRCm39)	A981S	probably damaging	Het
Aff3	T	G	1: 38,244,021 (GRCm39)	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,816,994 (GRCm39)	H78L	probably benign	Het
Bltp1	C	T	3: 37,100,401 (GRCm39)	T4707I	probably damaging	Het
Cacna1g	C	A	11: 94,301,880 (GRCm39)	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,038,709 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,183,161 (GRCm39)	V386A	probably damaging	Het
Cd46	A	G	1: 194,768,472 (GRCm39)	S82P	probably benign	Het
Clic5	A	G	17: 44,581,510 (GRCm39)	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,143,898 (GRCm39)	T529A	probably benign	Het
Col7a1	C	T	9: 108,809,305 (GRCm39)	R2627C	unknown	Het
Cuzd1	G	A	7: 130,913,637 (GRCm39)		probably benign	Het
Cwc27	T	C	13: 104,944,331 (GRCm39)	D50G	possibly damaging	Het
Dhx38	A	G	8: 110,281,813 (GRCm39)	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,565,550 (GRCm39)	E834A	probably damaging	Het
Dsg4	A	G	18: 20,603,936 (GRCm39)	D801G	probably damaging	Het
Dtx1	T	C	5: 120,819,464 (GRCm39)	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,433,265 (GRCm39)	H116L	probably damaging	Het
Fbxw18	T	C	9: 109,517,907 (GRCm39)	I360V	possibly damaging	Het
Fignl2	G	A	15: 100,951,974 (GRCm39)	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196 (GRCm39)	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,727,200 (GRCm39)	C545*	probably null	Het
Gm3336	A	G	8: 71,171,294 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,290 (GRCm39)	N518S	probably benign	Het
Hbs1l	T	A	10: 21,218,440 (GRCm39)	D312E	possibly damaging	Het
Ifnb1	A	T	4: 88,440,981 (GRCm39)	F11I	probably benign	Het
Marf1	T	C	16: 13,969,184 (GRCm39)		probably benign	Het
Myo1f	T	A	17: 33,820,930 (GRCm39)	V879E	probably benign	Het
Naip1	A	G	13: 100,545,656 (GRCm39)	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,382,586 (GRCm39)	E529G	probably damaging	Het
Npm3	T	C	19: 45,736,668 (GRCm39)	E157G	probably damaging	Het
Or10x4	A	G	1: 174,218,775 (GRCm39)	T47A	probably damaging	Het
Or4a67	T	A	2: 88,597,985 (GRCm39)	T225S	possibly damaging	Het
Or4a68	G	T	2: 89,269,740 (GRCm39)	N294K	probably benign	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,636,286 (GRCm39)	V768A	probably benign	Het
Prrc1	A	G	18: 57,495,564 (GRCm39)	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,313,105 (GRCm39)	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,811,121 (GRCm39)	V181F	probably damaging	Het
Ror2	T	C	13: 53,286,040 (GRCm39)	N58S	probably damaging	Het
Selplg	G	A	5: 113,958,069 (GRCm39)	T79I	probably damaging	Het
Setd1b	G	A	5: 123,295,500 (GRCm39)	G1023S	unknown	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Skint5	A	G	4: 113,562,793 (GRCm39)	V803A	unknown	Het
Slc25a46	T	C	18: 31,716,319 (GRCm39)	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,657,935 (GRCm39)	I101K	possibly damaging	Het
Spag17	C	A	3: 99,934,906 (GRCm39)	T704K	probably benign	Het
Tas2r144	T	A	6: 42,193,058 (GRCm39)	M266K	possibly damaging	Het
Tasor2	A	G	13: 3,646,842 (GRCm39)	V61A	possibly damaging	Het
Tbc1d31	T	A	15: 57,818,746 (GRCm39)	L783H	probably benign	Het
Tbck	C	A	3: 132,456,993 (GRCm39)		probably benign	Het
Vcan	A	G	13: 89,839,394 (GRCm39)	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,367,987 (GRCm39)	N158K	probably damaging	Het
Vmn2r103	T	A	17: 20,013,121 (GRCm39)	Y81N	probably benign	Het
Vmn2r103	A	G	17: 20,013,726 (GRCm39)	T173A	probably benign	Het
Ylpm1	T	G	12: 85,061,754 (GRCm39)	S552A	unknown	Het
Zdhhc17	A	T	10: 110,817,967 (GRCm39)	Y58*	probably null	Het

Other mutations in Hoxd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Hoxd10	APN	2	74,522,786 (GRCm39)	missense	probably benign	0.06
IGL03206:Hoxd10	APN	2	74,522,776 (GRCm39)	nonsense	probably null
hockey	UTSW	2	74,524,507 (GRCm39)	missense	probably damaging	1.00
R3004:Hoxd10	UTSW	2	74,522,706 (GRCm39)	missense	probably benign
R3419:Hoxd10	UTSW	2	74,522,921 (GRCm39)	missense	probably benign	0.00
R3717:Hoxd10	UTSW	2	74,524,474 (GRCm39)	missense	probably damaging	0.96
R4627:Hoxd10	UTSW	2	74,522,636 (GRCm39)	missense	probably benign
R4697:Hoxd10	UTSW	2	74,524,531 (GRCm39)	nonsense	probably null
R5875:Hoxd10	UTSW	2	74,522,426 (GRCm39)	missense	possibly damaging	0.95
R6378:Hoxd10	UTSW	2	74,524,678 (GRCm39)	missense	possibly damaging	0.93
R6597:Hoxd10	UTSW	2	74,522,984 (GRCm39)	missense	probably benign	0.00
R6711:Hoxd10	UTSW	2	74,524,507 (GRCm39)	missense	probably damaging	1.00
R6841:Hoxd10	UTSW	2	74,522,616 (GRCm39)	missense	probably benign	0.13
R8503:Hoxd10	UTSW	2	74,522,724 (GRCm39)	missense	probably benign	0.06
R9229:Hoxd10	UTSW	2	74,524,600 (GRCm39)	missense	possibly damaging	0.90
R9342:Hoxd10	UTSW	2	74,522,982 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGACTGAGTCAGACCTACGCCAC -3'
(R):5'- GCTCAAGACTGATAAACCCGGCAAG -3'

Sequencing Primer
(F):5'- GCAGCTCCACTGTCATGC -3'
(R):5'- GAGAAGCCCCGACCCTTTC -3'

Posted On

2013-04-24