Mutagenetix > Incidental Mutation

Incidental Mutation 'R2139:Hoxc10'

236074

Institutional Source

Beutler Lab

Gene Symbol

Hoxc10

Ensembl Gene

ENSMUSG00000022484

Gene Name

homeobox C10

Synonyms

Hox-3.6

MMRRC Submission

040142-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R2139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102875231-102880328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102875912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 207 (Q207L)

Ref Sequence

ENSEMBL: ENSMUSP00000001699 (fasta)

Gene Model

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

AlphaFold

P31257

Predicted Effect

probably benign
Transcript: ENSMUST00000001699
AA Change: Q207L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000001699
Gene: ENSMUSG00000022484
AA Change: Q207L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,593 (GRCm39)	F318I	probably damaging	Het
Bfsp2	T	C	9: 103,327,074 (GRCm39)	K221R	probably benign	Het
Cacna1b	A	C	2: 24,569,485 (GRCm39)	M813R	probably benign	Het
Chaf1a	T	C	17: 56,372,226 (GRCm39)	L798P	probably damaging	Het
Chd8	G	A	14: 52,474,428 (GRCm39)	T201I	probably benign	Het
Col23a1	T	C	11: 51,464,861 (GRCm39)	S436P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Cyp4f39	A	G	17: 32,710,163 (GRCm39)	I440M	probably benign	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dlg5	T	C	14: 24,220,612 (GRCm39)	D522G	probably damaging	Het
Dnaja4	A	T	9: 54,616,506 (GRCm39)	M170L	probably benign	Het
Dop1b	T	C	16: 93,567,895 (GRCm39)	S1441P	possibly damaging	Het
Efcab3	C	T	11: 104,642,737 (GRCm39)	T1120I	possibly damaging	Het
Egr2	T	A	10: 67,376,702 (GRCm39)	S383T	probably damaging	Het
Elovl1	A	G	4: 118,288,303 (GRCm39)	D94G	probably damaging	Het
Erbb4	A	G	1: 68,385,788 (GRCm39)	V267A	probably damaging	Het
Esp38	T	A	17: 40,264,275 (GRCm39)	I11N	probably damaging	Het
Esrrb	T	C	12: 86,468,740 (GRCm39)		probably null	Het
Fbxo24	A	T	5: 137,611,327 (GRCm39)	S488T	probably damaging	Het
Fgfr1	T	G	8: 26,060,882 (GRCm39)	V618G	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gpr61	A	T	3: 108,058,077 (GRCm39)	C195S	probably damaging	Het
Greb1l	A	C	18: 10,555,011 (GRCm39)	N1686H	probably damaging	Het
Hapln4	T	C	8: 70,540,788 (GRCm39)	F274L	probably benign	Het
Hspa12a	A	G	19: 58,787,914 (GRCm39)	V636A	probably benign	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Kif13a	T	C	13: 46,905,945 (GRCm39)	D666G	possibly damaging	Het
Krt86	A	T	15: 101,371,639 (GRCm39)	I70F	probably benign	Het
Lgi4	A	T	7: 30,762,548 (GRCm39)	I112F	probably damaging	Het
Lrrc8c	T	G	5: 105,754,558 (GRCm39)	I111S	probably damaging	Het
Ltbp2	T	C	12: 84,862,753 (GRCm39)	N600S	probably damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mroh5	T	A	15: 73,661,940 (GRCm39)	D417V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mtarc1	G	A	1: 184,527,632 (GRCm39)	T276I	probably benign	Het
Muc4	T	A	16: 32,581,599 (GRCm39)	I2488N	unknown	Het
Myrf	C	G	19: 10,193,831 (GRCm39)	A532P	probably damaging	Het
Nav3	T	C	10: 109,688,996 (GRCm39)	N427S	probably benign	Het
Neb	T	C	2: 52,102,600 (GRCm39)	S4315G	probably damaging	Het
Nyap2	A	G	1: 81,218,983 (GRCm39)	D335G	probably damaging	Het
Olfm4	T	C	14: 80,251,755 (GRCm39)	L225P	probably benign	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or4c104	T	A	2: 88,586,437 (GRCm39)	N194I	probably damaging	Het
Or51ac3	A	T	7: 103,213,961 (GRCm39)	I175K	possibly damaging	Het
Or8s2	T	C	15: 98,276,145 (GRCm39)	N282S	probably damaging	Het
Pcdhac2	T	G	18: 37,279,139 (GRCm39)	Y706*	probably null	Het
Pgbd1	A	G	13: 21,607,190 (GRCm39)	S335P	probably damaging	Het
Pkhd1l1	A	C	15: 44,393,214 (GRCm39)	I1850L	possibly damaging	Het
Pogz	T	C	3: 94,778,318 (GRCm39)	V304A	possibly damaging	Het
Rap1a	T	C	3: 105,646,856 (GRCm39)	I100V	probably damaging	Het
Slc4a4	A	T	5: 89,194,123 (GRCm39)	K201M	probably damaging	Het
Slc6a1	T	C	6: 114,281,022 (GRCm39)	F8S	possibly damaging	Het
St18	T	G	1: 6,880,839 (GRCm39)	M444R	possibly damaging	Het
Syna	G	T	5: 134,588,106 (GRCm39)	S281*	probably null	Het
Tgm1	A	G	14: 55,947,000 (GRCm39)	V336A	probably damaging	Het
Tle6	G	T	10: 81,429,868 (GRCm39)	T400K	probably damaging	Het
Tmem181a	T	C	17: 6,348,481 (GRCm39)	W328R	probably damaging	Het
Trim7	T	C	11: 48,729,721 (GRCm39)	F193L	probably benign	Het
Txndc16	A	T	14: 45,410,046 (GRCm39)	M178K	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r74	A	G	7: 11,581,243 (GRCm39)	Y181C	probably damaging	Het
Vmn2r56	T	A	7: 12,446,890 (GRCm39)	K421*	probably null	Het
Vwa7	T	G	17: 35,242,406 (GRCm39)	S503R	probably benign	Het
Washc5	G	A	15: 59,221,991 (GRCm39)	T135M	probably damaging	Het
Wdr6	T	C	9: 108,451,322 (GRCm39)	I854V	probably benign	Het
Zfp507	A	G	7: 35,493,148 (GRCm39)	C632R	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
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
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'- TGTACCCAGCTACTACCGAG -3'
(R):5'- TGAGTTCCTTAGGCCTCTGC -3'

Sequencing Primer
(F):5'- GCTACTACCGAGCCAGCC -3'
(R):5'- AGTTCCTTAGGCCTCTGCTCAATTC -3'

Posted On

2014-10-01