Mutagenetix > Incidental Mutation

Incidental Mutation 'R5640:Hoxc10'

440633

Institutional Source

Beutler Lab

Gene Symbol

Hoxc10

Ensembl Gene

ENSMUSG00000022484

Gene Name

homeobox C10

Synonyms

Hox-3.6

MMRRC Submission

043289-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R5640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102875231-102880328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102875702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 137 (C137F)

Ref Sequence

ENSEMBL: ENSMUSP00000001699 (fasta)

Gene Model

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

AlphaFold

P31257

Predicted Effect

probably benign
Transcript: ENSMUST00000001699
AA Change: C137F

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001699
Gene: ENSMUSG00000022484
AA Change: C137F

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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, 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,861,511 (GRCm39)	Y220C	probably damaging	Het
Actl6a	A	G	3: 32,772,199 (GRCm39)	T170A	probably damaging	Het
Adamts8	T	C	9: 30,867,796 (GRCm39)	V540A	probably benign	Het
Aga	T	C	8: 53,964,919 (GRCm39)	L27P	probably damaging	Het
Agmat	T	A	4: 141,483,134 (GRCm39)	H189Q	probably damaging	Het
Alx3	C	A	3: 107,507,977 (GRCm39)	T162K	probably damaging	Het
Armc2	T	A	10: 41,887,894 (GRCm39)	I30L	possibly damaging	Het
Atp10d	T	G	5: 72,404,552 (GRCm39)	Y487D	probably damaging	Het
Atp13a4	C	T	16: 29,234,649 (GRCm39)	M908I	probably damaging	Het
B4galt2	T	G	4: 117,731,195 (GRCm39)	N322T	probably benign	Het
Bmal1	C	T	7: 112,907,888 (GRCm39)	P530L	probably damaging	Het
Brdt	A	T	5: 107,507,174 (GRCm39)	K525*	probably null	Het
Ccdc168	T	C	1: 44,101,087 (GRCm39)	I4V	probably benign	Het
Ces3a	T	A	8: 105,778,377 (GRCm39)	M246K	probably benign	Het
Chd9	T	A	8: 91,763,190 (GRCm39)	H2338Q	probably damaging	Het
Cyp3a16	T	A	5: 145,389,633 (GRCm39)	D244V	possibly damaging	Het
Dhrs9	C	A	2: 69,224,822 (GRCm39)	A170E	probably damaging	Het
Dlg5	T	C	14: 24,220,529 (GRCm39)	N550D	probably damaging	Het
Dnah8	C	T	17: 31,022,082 (GRCm39)	T3894I	probably damaging	Het
Dpys	T	C	15: 39,705,462 (GRCm39)	H217R	probably damaging	Het
Dpysl2	C	T	14: 67,071,817 (GRCm39)	V108I	probably benign	Het
Eprs1	A	G	1: 185,106,381 (GRCm39)	T199A	probably benign	Het
Fads1	A	G	19: 10,163,767 (GRCm39)	D183G	probably damaging	Het
Fam110b	T	G	4: 5,798,689 (GRCm39)	Y36D	probably damaging	Het
Fbxl21	G	A	13: 56,685,194 (GRCm39)	D407N	probably benign	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gnas	C	A	2: 174,126,764 (GRCm39)	R100S	probably benign	Het
Gse1	A	G	8: 121,289,416 (GRCm39)	H90R	possibly damaging	Het
Ipp	T	G	4: 116,377,886 (GRCm39)	L252R	possibly damaging	Het
Jmjd1c	T	A	10: 67,061,857 (GRCm39)	S1403R	probably benign	Het
Kif19a	A	G	11: 114,670,041 (GRCm39)	M79V	probably benign	Het
Lipo4	T	C	19: 33,478,986 (GRCm39)	T285A	possibly damaging	Het
Lrrc66	A	T	5: 73,765,977 (GRCm39)	D355E	probably benign	Het
Lrsam1	T	A	2: 32,835,864 (GRCm39)	Q301L	probably benign	Het
Med6	C	T	12: 81,628,628 (GRCm39)	R138Q	probably damaging	Het
Nlrc5	A	G	8: 95,202,421 (GRCm39)	T174A	probably benign	Het
Nrbp1	C	T	5: 31,406,929 (GRCm39)	R322W	possibly damaging	Het
Or10ak14	T	A	4: 118,610,986 (GRCm39)	T250S	probably benign	Het
Or11g24	C	A	14: 50,662,111 (GRCm39)	A45D	probably benign	Het
Or4a47	T	A	2: 89,666,282 (GRCm39)	E2D	probably benign	Het
Pde3a	A	G	6: 141,429,641 (GRCm39)	E734G	probably damaging	Het
Pgap6	C	T	17: 26,337,846 (GRCm39)	T410I	possibly damaging	Het
Pnpla7	C	T	2: 24,893,013 (GRCm39)	T167I	possibly damaging	Het
Pop7	T	C	5: 137,500,321 (GRCm39)	N4S	possibly damaging	Het
Ppm1h	C	A	10: 122,618,183 (GRCm39)	P114Q	probably benign	Het
Prdm16	T	C	4: 154,426,367 (GRCm39)	T473A	probably benign	Het
Prdm6	T	C	18: 53,669,813 (GRCm39)		probably null	Het
Prkdc	T	G	16: 15,647,633 (GRCm39)	W3686G	possibly damaging	Het
Ptchd4	C	A	17: 42,814,026 (GRCm39)	H642Q	possibly damaging	Het
Rad1	A	G	15: 10,496,009 (GRCm39)	Y228C	possibly damaging	Het
Rgs22	G	A	15: 36,107,101 (GRCm39)	T56I	probably benign	Het
Rnf135	C	A	11: 80,084,733 (GRCm39)	H169N	probably benign	Het
Rnft1	C	T	11: 86,377,319 (GRCm39)	Q128*	probably null	Het
Sez6	T	C	11: 77,864,585 (GRCm39)		probably benign	Het
Sh3rf3	A	G	10: 58,649,769 (GRCm39)	S125G	probably benign	Het
Sik2	T	C	9: 50,826,806 (GRCm39)	E295G	possibly damaging	Het
Themis	A	G	10: 28,739,372 (GRCm39)	Q614R	probably damaging	Het
Thsd7b	T	A	1: 130,044,408 (GRCm39)	C1129*	probably null	Het
Tmem68	A	T	4: 3,569,512 (GRCm39)	F59L	probably benign	Het
Vmn2r107	A	G	17: 20,595,426 (GRCm39)	T660A	probably damaging	Het
Vwa5b2	G	T	16: 20,416,292 (GRCm39)	C484F	probably damaging	Het
Zfp418	T	A	7: 7,184,980 (GRCm39)	C314*	probably null	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
R5951:Hoxc10	UTSW	15	102,875,753 (GRCm39)	missense	possibly damaging	0.52
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'- TTCAACTGCGGGGTGATGAG -3'
(R):5'- AGGAAAACTCACTTTGCCCC -3'

Sequencing Primer
(F):5'- TCTCTCCAAGAGGGACGAG -3'
(R):5'- ACTTTGCCCCCAAGCTGAG -3'

Posted On

2016-11-08