Mutagenetix > Incidental Mutation

Incidental Mutation 'R6841:Hoxd10'

538003

Institutional Source

Beutler Lab

Gene Symbol

Hoxd10

Ensembl Gene

ENSMUSG00000050368

Gene Name

homeobox D10

Synonyms

Hox-5.3, Hox-4.5

MMRRC Submission

044947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R6841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74522268-74525449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74522616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 98 (V98D)

Ref Sequence

ENSEMBL: ENSMUSP00000062412 (fasta)

Gene Model

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

AlphaFold

P28359

Predicted Effect

probably benign
Transcript: ENSMUST00000061745
AA Change: V98D

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: V98D

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

Meta Mutation Damage Score

0.1218

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	G	A	11: 6,150,439 (GRCm39)	W137*	probably null	Het
Acads	G	A	5: 115,250,417 (GRCm39)	T169I	probably benign	Het
Adgrg7	T	A	16: 56,570,787 (GRCm39)	N414Y	probably damaging	Het
Ankrd35	T	A	3: 96,577,742 (GRCm39)	S6T	probably damaging	Het
Armc3	A	G	2: 19,206,630 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,496,140 (GRCm39)	V555F	possibly damaging	Het
Bltp1	A	G	3: 37,075,630 (GRCm39)	Y3610C	probably damaging	Het
Cars2	C	T	8: 11,566,198 (GRCm39)	V443I	probably benign	Het
Cblc	A	G	7: 19,526,821 (GRCm39)	L137P	probably damaging	Het
Ccdc198	T	C	14: 49,481,270 (GRCm39)		probably null	Het
Cdk5r1	T	A	11: 80,369,021 (GRCm39)	C229*	probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Cfap54	T	C	10: 92,710,877 (GRCm39)	Y2728C	unknown	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
Cnot11	C	T	1: 39,579,148 (GRCm39)	Q12*	probably null	Het
Commd6	A	T	14: 101,874,534 (GRCm39)	D19E	probably damaging	Het
Crygc	C	T	1: 65,112,361 (GRCm39)	G71D	possibly damaging	Het
Cstf3	A	G	2: 104,486,076 (GRCm39)	K439E	probably benign	Het
Cyp11b2	G	T	15: 74,727,340 (GRCm39)	H114N	probably benign	Het
Cyp2d40	T	C	15: 82,645,687 (GRCm39)	D106G	probably benign	Het
Dhx8	T	A	11: 101,655,618 (GRCm39)	V1117E	probably damaging	Het
Duoxa1	G	T	2: 122,134,462 (GRCm39)	L219I	probably damaging	Het
Dynap	A	T	18: 70,374,253 (GRCm39)	I91N	probably damaging	Het
Elfn1	G	T	5: 139,958,900 (GRCm39)	G635W	probably damaging	Het
Fan1	A	T	7: 64,014,377 (GRCm39)	I618N	probably damaging	Het
Fras1	A	G	5: 96,876,410 (GRCm39)	D2381G	probably damaging	Het
Fxyd6	T	A	9: 45,302,851 (GRCm39)		probably null	Het
Gpr137b	A	T	13: 13,538,094 (GRCm39)	W286R	probably damaging	Het
Gpsm3	A	T	17: 34,809,536 (GRCm39)		probably null	Het
Has1	C	T	17: 18,064,122 (GRCm39)	V506I	probably benign	Het
Htr2b	T	A	1: 86,027,615 (GRCm39)	D297V	probably benign	Het
Hydin	G	C	8: 111,265,007 (GRCm39)	R2730P	probably benign	Het
I830077J02Rik	T	C	3: 105,833,830 (GRCm39)	N109D	possibly damaging	Het
Igf2r	A	T	17: 12,922,263 (GRCm39)	F1284I	probably damaging	Het
Ildr2	C	G	1: 166,098,144 (GRCm39)	D167E	probably damaging	Het
Ipo9	T	C	1: 135,314,046 (GRCm39)	D949G	probably benign	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Itpr1	A	G	6: 108,365,153 (GRCm39)	N27S	probably damaging	Het
Klra4	C	A	6: 130,042,162 (GRCm39)	R35L	probably benign	Het
Map3k2	T	A	18: 32,359,682 (GRCm39)	C512S	probably benign	Het
Mertk	A	G	2: 128,601,150 (GRCm39)		probably null	Het
Mgat2	T	A	12: 69,232,407 (GRCm39)	I327N	probably damaging	Het
Mogat1	T	C	1: 78,499,496 (GRCm39)	I59T	probably damaging	Het
Mrpl2	A	T	17: 46,958,382 (GRCm39)	M55L	probably benign	Het
Nxpe3	T	C	16: 55,664,685 (GRCm39)	M512V	possibly damaging	Het
Pcdh15	T	C	10: 74,286,052 (GRCm39)	L769P	probably damaging	Het
Pcmtd2	T	G	2: 181,486,231 (GRCm39)	V117G	probably damaging	Het
Pdia2	A	T	17: 26,415,578 (GRCm39)		probably null	Het
Repin1	A	T	6: 48,574,859 (GRCm39)	Q593L	possibly damaging	Het
Rnf213	C	T	11: 119,340,692 (GRCm39)	T3517I	probably benign	Het
Rxfp2	A	T	5: 149,942,210 (GRCm39)		probably benign	Het
Skint8	T	C	4: 111,785,968 (GRCm39)	L138P	probably damaging	Het
Slc35a3	T	A	3: 116,506,417 (GRCm39)	Q5L	probably null	Het
Stab2	T	A	10: 86,778,054 (GRCm39)	N758I	probably damaging	Het
Sulf1	T	A	1: 12,908,658 (GRCm39)	I557N	probably damaging	Het
Tbc1d8	T	C	1: 39,428,455 (GRCm39)	I497V	possibly damaging	Het
Ticam2	A	C	18: 46,693,998 (GRCm39)	S30A	probably benign	Het
Timp3	T	C	10: 86,181,638 (GRCm39)	S170P	possibly damaging	Het
Top1mt	C	T	15: 75,547,973 (GRCm39)	E38K	probably benign	Het
Tpp1	G	A	7: 105,398,171 (GRCm39)	L331F	probably damaging	Het
Trpm7	A	T	2: 126,654,941 (GRCm39)	D1332E	probably benign	Het
Ttc23	A	G	7: 67,319,476 (GRCm39)	E112G	possibly damaging	Het
Ttn	T	C	2: 76,715,296 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,726,934 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,850,969 (GRCm39)	C1796S	probably damaging	Het
Ugt2b34	C	T	5: 87,040,675 (GRCm39)	V416I	probably benign	Het
Uqcrb	A	G	13: 67,048,827 (GRCm39)		probably benign	Het
Vps26b	A	G	9: 26,921,760 (GRCm39)	L255P	probably benign	Het
Wdr59	A	G	8: 112,223,512 (GRCm39)	V154A	probably damaging	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
R0375:Hoxd10	UTSW	2	74,523,064 (GRCm39)	missense	probably benign	0.03
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
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'- TTGATCAGTGCCTGCAGGAG -3'
(R):5'- CTGACTCAGTCTAAAATATCCAGGGAC -3'

Sequencing Primer
(F):5'- TTTATTCGAGCAGCGCCAG -3'
(R):5'- TCCAGGGACAGGAACCTC -3'

Posted On

2018-10-18