Mutagenetix > Incidental Mutation

Incidental Mutation 'R5951:Hoxc10'

470917

Institutional Source

Beutler Lab

Gene Symbol

Hoxc10

Ensembl Gene

ENSMUSG00000022484

Gene Name

homeobox C10

Synonyms

Hox-3.6

MMRRC Submission

044141-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R5951 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

102875231-102880328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102875753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 154 (S154N)

Ref Sequence

ENSEMBL: ENSMUSP00000001699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001699]

AlphaFold

P31257

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001699
AA Change: S154N

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001699
Gene: ENSMUSG00000022484
AA Change: S154N

Domain	Start	End	E-Value	Type
low complexity region	143	157	N/A	INTRINSIC
HOX	268	330	2.68e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174869

Meta Mutation Damage Score

0.0732

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit skeletal transformations in thoracic, lumbar and sacral vertebrae, alterations in the pelvis and in the bones and ligaments of the hindlimb, femoral defects, decreased lumbar motor neuron and rib number, impairedcoordination, muscle wasting, and obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,811 (GRCm39)	E180D	probably damaging	Het
Add3	A	G	19: 53,232,720 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,590,620 (GRCm39)	I4396N	probably damaging	Het
Apc	C	T	18: 34,450,199 (GRCm39)	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,286,729 (GRCm39)	C51F	probably damaging	Het
Arid4b	T	C	13: 14,317,648 (GRCm39)	V177A	possibly damaging	Het
Atp13a1	T	A	8: 70,249,935 (GRCm39)	I343N	probably damaging	Het
Bcar1	T	C	8: 112,440,032 (GRCm39)	D654G	probably benign	Het
Brox	T	C	1: 183,064,072 (GRCm39)	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,524,577 (GRCm39)	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,047,562 (GRCm39)	K18Q	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,019,120 (GRCm39)	E478*	probably null	Het
Dgkq	A	T	5: 108,802,236 (GRCm39)	M443K	probably damaging	Het
Dhx32	A	T	7: 133,339,057 (GRCm39)	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,000,342 (GRCm39)	I93V	probably benign	Het
Ehmt2	C	T	17: 35,118,357 (GRCm39)	T44I	probably benign	Het
Enc1	T	C	13: 97,381,765 (GRCm39)	S92P	probably benign	Het
Epha5	T	C	5: 84,479,051 (GRCm39)		probably benign	Het
Eya4	T	A	10: 23,031,892 (GRCm39)	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,173 (GRCm39)	I490F	possibly damaging	Het
Galntl6	A	G	8: 58,415,436 (GRCm39)	V239A	probably benign	Het
Glg1	T	C	8: 111,892,323 (GRCm39)	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,876,893 (GRCm39)		noncoding transcript	Het
Gpd1l	C	T	9: 114,743,473 (GRCm39)	M142I	probably benign	Het
Helb	A	G	10: 119,927,653 (GRCm39)	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,802,255 (GRCm39)	F374C	probably damaging	Het
Ice2	A	T	9: 69,319,651 (GRCm39)	T367S	possibly damaging	Het
Iqca1	A	T	1: 90,067,819 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,535,801 (GRCm39)	D1447E	probably benign	Het
Larp1	G	T	11: 57,940,765 (GRCm39)	M630I	probably benign	Het
Lrp2	A	G	2: 69,326,667 (GRCm39)		probably null	Het
Map4k3	G	T	17: 80,911,427 (GRCm39)	Q673K	probably benign	Het
Mettl16	A	G	11: 74,686,823 (GRCm39)	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,855,956 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,998,222 (GRCm39)	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,531 (GRCm39)	Y144H	probably damaging	Het
Or2f1b	G	T	6: 42,739,493 (GRCm39)	C169F	probably damaging	Het
Or5t5	G	T	2: 86,616,571 (GRCm39)	V166L	probably benign	Het
Padi1	T	C	4: 140,542,140 (GRCm39)	Y594C	probably damaging	Het
Palm3	T	A	8: 84,756,049 (GRCm39)	D520E	probably benign	Het
Paox	G	A	7: 139,707,567 (GRCm39)	C130Y	probably damaging	Het
Parpbp	T	A	10: 87,975,769 (GRCm39)	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,721,708 (GRCm39)	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,405,229 (GRCm39)	D212V	probably benign	Het
Pi4ka	A	G	16: 17,121,006 (GRCm39)	F53L	probably damaging	Het
Pik3c2a	A	T	7: 115,967,419 (GRCm39)	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,710,625 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,906,492 (GRCm39)	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,598,011 (GRCm39)	S6L	probably benign	Het
Ptk2	T	G	15: 73,175,682 (GRCm39)	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,948,811 (GRCm39)	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,708,120 (GRCm39)	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,106,085 (GRCm39)	F217I	probably damaging	Het
Serhl	T	C	15: 82,987,237 (GRCm39)		probably benign	Het
Sh3tc2	A	G	18: 62,123,078 (GRCm39)	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,502,714 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,769 (GRCm39)	I110T	probably benign	Het
Syde1	C	A	10: 78,425,150 (GRCm39)	R287L	possibly damaging	Het
Tmem184c	C	T	8: 78,325,291 (GRCm39)		probably null	Het
Trmt44	C	A	5: 35,730,032 (GRCm39)		probably benign	Het
Ttbk2	G	T	2: 120,603,764 (GRCm39)	S256R	probably benign	Het
Ttll6	A	T	11: 96,036,336 (GRCm39)	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753 (GRCm39)		probably null	Het
Wsb2	A	T	5: 117,515,600 (GRCm39)	T402S	probably damaging	Het

Other mutations in Hoxc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0630:Hoxc10	UTSW	15	102,875,917 (GRCm39)	missense	probably benign	0.07
R1529:Hoxc10	UTSW	15	102,875,635 (GRCm39)	missense	probably damaging	1.00
R1771:Hoxc10	UTSW	15	102,875,522 (GRCm39)	missense	probably damaging	1.00
R2139:Hoxc10	UTSW	15	102,875,912 (GRCm39)	missense	probably benign	0.19
R2962:Hoxc10	UTSW	15	102,875,735 (GRCm39)	missense	probably damaging	1.00
R3849:Hoxc10	UTSW	15	102,875,879 (GRCm39)	missense	probably benign	0.00
R3850:Hoxc10	UTSW	15	102,875,879 (GRCm39)	missense	probably benign	0.00
R4507:Hoxc10	UTSW	15	102,875,387 (GRCm39)	missense	probably damaging	1.00
R4650:Hoxc10	UTSW	15	102,875,698 (GRCm39)	missense	probably benign	0.02
R5640:Hoxc10	UTSW	15	102,875,702 (GRCm39)	missense	probably benign	0.39
R6240:Hoxc10	UTSW	15	102,879,265 (GRCm39)	missense	probably damaging	1.00
R6899:Hoxc10	UTSW	15	102,875,942 (GRCm39)	missense	possibly damaging	0.83
R7110:Hoxc10	UTSW	15	102,879,356 (GRCm39)	missense	probably damaging	1.00
R8012:Hoxc10	UTSW	15	102,875,902 (GRCm39)	missense	probably benign	0.00
R9123:Hoxc10	UTSW	15	102,875,810 (GRCm39)	missense	probably benign	0.02
R9368:Hoxc10	UTSW	15	102,879,382 (GRCm39)	missense	possibly damaging	0.93
R9426:Hoxc10	UTSW	15	102,879,289 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAACAACCTGTTGGCAG -3'
(R):5'- TATCCGAGGTGTCTGGACTG -3'

Sequencing Primer
(F):5'- CTGTTGGCAGGCCTCTGTC -3'
(R):5'- GCTCTGTCTTGATCTCATTGGGAC -3'

Posted On

2017-03-31