Mutagenetix > Incidental Mutation

Incidental Mutation 'R7054:Hoxd13'

547753

Institutional Source

Beutler Lab

Gene Symbol

Hoxd13

Ensembl Gene

ENSMUSG00000001819

Gene Name

homeobox D13

Synonyms

spdh, Hox-4.8

MMRRC Submission

045151-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R7054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74498654-74501943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74499369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 239 (Y239C)

Ref Sequence

ENSEMBL: ENSMUSP00000001872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001872]

AlphaFold

P70217

Predicted Effect

probably damaging
Transcript: ENSMUST00000001872
AA Change: Y239C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001872
Gene: ENSMUSG00000001819
AA Change: Y239C

Domain	Start	End	E-Value	Type
low complexity region	14	34	N/A	INTRINSIC
Pfam:HoxA13_N	75	177	4e-18	PFAM
HOX	272	334	4.33e-22	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (67/71)

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. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit abnormalities of the axial skeleton, especially limbs, and of the male accessory organs, and agenesis of the preputial glands. Mutant males are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,486 (GRCm39)	H44L	unknown	Het
Abcc3	T	C	11: 94,256,051 (GRCm39)	K478R	probably benign	Het
Ank2	A	T	3: 126,736,952 (GRCm39)		probably benign	Het
Apod	A	G	16: 31,129,950 (GRCm39)	V2A	probably benign	Het
Armh4	C	A	14: 50,011,155 (GRCm39)	S184I	probably damaging	Het
Aspg	T	A	12: 112,092,824 (GRCm39)	D530E	probably damaging	Het
Atxn7	A	T	14: 14,100,878 (GRCm38)	T855S	probably benign	Het
Blmh	G	C	11: 76,859,451 (GRCm39)	G351R	probably damaging	Het
Cc2d2a	C	T	5: 43,857,321 (GRCm39)	R454*	probably null	Het
Cenpp	T	C	13: 49,619,233 (GRCm39)	E188G	probably damaging	Het
Cimip3	A	G	17: 47,748,114 (GRCm39)		probably null	Het
Creg2	T	C	1: 39,662,376 (GRCm39)	E252G	probably benign	Het
Dot1l	A	G	10: 80,622,857 (GRCm39)	Y636C	probably damaging	Het
Dpy30	A	G	17: 74,614,835 (GRCm39)	I36T	probably benign	Het
Eed	A	G	7: 89,613,935 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,353 (GRCm39)	D351G	unknown	Het
Fra10ac1	C	T	19: 38,212,567 (GRCm39)		probably benign	Het
Gdpd4	T	A	7: 97,623,136 (GRCm39)	I249N	probably damaging	Het
Glb1l2	A	T	9: 26,676,423 (GRCm39)	V600D	probably null	Het
Gm13889	A	T	2: 93,787,459 (GRCm39)		probably benign	Het
Gm17654	T	A	14: 43,813,327 (GRCm39)	N188Y		Het
Gm3327	T	C	14: 44,363,732 (GRCm39)	F112S		Het
H2-Ab1	T	C	17: 34,482,316 (GRCm39)	S11P	probably benign	Het
Hcn4	T	C	9: 58,763,000 (GRCm39)	S522P	unknown	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hoxa1	A	G	6: 52,135,180 (GRCm39)	S8P	probably damaging	Het
Ifih1	T	A	2: 62,440,859 (GRCm39)	I485L	probably benign	Het
Ift52	G	A	2: 162,871,716 (GRCm39)	V183M	probably damaging	Het
Ikbkb	A	G	8: 23,161,658 (GRCm39)	V410A	possibly damaging	Het
Il22ra1	G	A	4: 135,478,473 (GRCm39)	V515I	probably benign	Het
Klk1b3	A	T	7: 43,850,863 (GRCm39)	I132F	probably damaging	Het
Limk2	T	C	11: 3,305,448 (GRCm39)	T206A	possibly damaging	Het
Llph	A	T	10: 120,067,240 (GRCm39)		probably benign	Het
Lrrc26	T	A	2: 25,180,087 (GRCm39)	D29E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Mfhas1	T	C	8: 36,055,792 (GRCm39)	V89A	probably benign	Het
Mycbp2	G	A	14: 103,393,534 (GRCm39)	T2899I	possibly damaging	Het
Nckap5	A	T	1: 126,186,449 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,275,619 (GRCm39)	D530G	probably null	Het
Or10ag55-ps1	T	A	2: 87,114,775 (GRCm39)	M47K	probably benign	Het
Or56a3b	C	T	7: 104,771,170 (GRCm39)	R169*	probably null	Het
Pax4	A	G	6: 28,446,322 (GRCm39)	I57T	probably damaging	Het
Peg12	T	C	7: 62,113,711 (GRCm39)	I129V	possibly damaging	Het
Pex6	G	A	17: 47,031,447 (GRCm39)	A416T	probably benign	Het
Pgghg	G	A	7: 140,524,631 (GRCm39)	R326H	probably benign	Het
Pgk2	T	A	17: 40,519,366 (GRCm39)	M21L	probably benign	Het
Polh	A	T	17: 46,509,642 (GRCm39)	W64R	probably benign	Het
Rassf7	T	A	7: 140,797,556 (GRCm39)	H256Q	probably benign	Het
Rc3h2	A	G	2: 37,265,258 (GRCm39)	M1184T	probably benign	Het
Ror1	A	T	4: 100,299,436 (GRCm39)	E936D	probably benign	Het
Skic3	G	A	13: 76,283,079 (GRCm39)	A769T	probably damaging	Het
Slco1b2	A	T	6: 141,617,974 (GRCm39)	T440S	probably damaging	Het
Specc1	T	A	11: 62,008,604 (GRCm39)	V40E	probably damaging	Het
Tarbp1	T	A	8: 127,201,234 (GRCm39)	S191C	possibly damaging	Het
Timm22	A	G	11: 76,298,071 (GRCm39)	E14G	possibly damaging	Het
Tpp2	T	A	1: 44,022,318 (GRCm39)	D905E	probably damaging	Het
Trav7-5	T	C	14: 53,768,756 (GRCm39)	L108P	probably damaging	Het
Ttc9b	A	G	7: 27,353,667 (GRCm39)	T106A	probably benign	Het
Ttn	T	C	2: 76,545,012 (GRCm39)	S32697G	probably damaging	Het
Usp17la	T	G	7: 104,510,514 (GRCm39)	L373R	probably benign	Het
Vmn1r113	A	G	7: 20,521,427 (GRCm39)	N73S	probably benign	Het
Vmn1r42	T	C	6: 89,822,051 (GRCm39)	T173A	possibly damaging	Het
Vmn2r106	A	G	17: 20,499,182 (GRCm39)	V243A	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Zc3h13	T	C	14: 75,559,227 (GRCm39)	S379P	probably benign	Het
Zfp870	T	C	17: 33,102,456 (GRCm39)	Y292C	probably damaging	Het
Zfp977	A	T	7: 42,229,786 (GRCm39)	N246K	possibly damaging	Het
Zp1	G	A	19: 10,896,104 (GRCm39)	T207M	probably damaging	Het

Other mutations in Hoxd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03108:Hoxd13	APN	2	74,500,440 (GRCm39)	missense	probably damaging	1.00
R1722:Hoxd13	UTSW	2	74,500,389 (GRCm39)	missense	probably benign	0.34
R2163:Hoxd13	UTSW	2	74,499,413 (GRCm39)	missense	possibly damaging	0.82
R4116:Hoxd13	UTSW	2	74,498,832 (GRCm39)	missense	possibly damaging	0.93
R4400:Hoxd13	UTSW	2	74,500,359 (GRCm39)	missense	probably damaging	1.00
R4424:Hoxd13	UTSW	2	74,500,301 (GRCm39)	nonsense	probably null
R4938:Hoxd13	UTSW	2	74,499,027 (GRCm39)	missense	probably benign	0.26
R5535:Hoxd13	UTSW	2	74,499,141 (GRCm39)	missense	probably damaging	0.99
R7069:Hoxd13	UTSW	2	74,499,368 (GRCm39)	missense	probably damaging	1.00
R7677:Hoxd13	UTSW	2	74,498,909 (GRCm39)	missense	probably benign	0.39
R8329:Hoxd13	UTSW	2	74,498,661 (GRCm39)	missense	probably benign	0.06
R8906:Hoxd13	UTSW	2	74,500,266 (GRCm39)	missense
R9130:Hoxd13	UTSW	2	74,499,382 (GRCm39)	missense	probably benign	0.02
R9386:Hoxd13	UTSW	2	74,499,327 (GRCm39)	missense	probably damaging	1.00
R9803:Hoxd13	UTSW	2	74,499,247 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGAAGTACATGGACGTGTCG -3'
(R):5'- GCGCTTTTAATTGGGAAAGTCAG -3'

Sequencing Primer
(F):5'- AGCGTACCGACCAACGAGG -3'
(R):5'- GCTTTTAATTGGGAAAGTCAGAGATC -3'

Posted On

2019-05-13