Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Hoxc9'

274994

Institutional Source

Beutler Lab

Gene Symbol

Hoxc9

Ensembl Gene

ENSMUSG00000036139

Gene Name

homeobox C9

Synonyms

Hox-3.2

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3807 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102885467-102893324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102890116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 11 (Y11C)

Ref Sequence

ENSEMBL: ENSMUSP00000001706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001706] [ENSMUST00000173306]

AlphaFold

P09633

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001706
AA Change: Y11C

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001706
Gene: ENSMUSG00000036139
AA Change: Y11C

Domain	Start	End	E-Value	Type
Pfam:Hox9_act	1	179	2e-63	PFAM
HOX	192	254	8.84e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174869

Coding Region Coverage

1x: 99.2%
3x: 98.7%
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene grow more slowly than normal and develop hunched backs. Forward transformations seen in vertebrae from L1 and forward to around T10. Abnormalities in the sternum and ribs attachments to the sternum are also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 112,717,002 (GRCm39)	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,034 (GRCm39)	I563T	probably damaging	Het
Armcx1	T	C	X: 133,622,014 (GRCm39)	V372A	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,055,922 (GRCm39)	N329K	probably benign	Het
Ccdc113	A	T	8: 96,269,281 (GRCm39)	N193I	probably damaging	Het
Cebpz	A	T	17: 79,242,847 (GRCm39)	L269Q	probably damaging	Het
Cttn	C	T	7: 143,999,588 (GRCm39)	V290M	probably damaging	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dmbt1	T	A	7: 130,713,819 (GRCm39)	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,541,418 (GRCm39)	W135R	probably damaging	Het
Entpd7	T	G	19: 43,713,979 (GRCm39)		probably null	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Erich1	T	C	8: 14,083,695 (GRCm39)	N125S	probably benign	Het
Fam149a	T	A	8: 45,834,647 (GRCm39)	T51S	possibly damaging	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Frem2	A	T	3: 53,560,870 (GRCm39)	D1212E	probably benign	Het
Garin3	G	A	11: 46,295,780 (GRCm39)	A51T	possibly damaging	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Gm11595	C	T	11: 99,663,380 (GRCm39)	R100H	unknown	Het
Gria1	T	C	11: 57,201,504 (GRCm39)	W712R	probably damaging	Het
Herc2	A	G	7: 55,857,557 (GRCm39)	N4047D	probably damaging	Het
Lama2	GCCC	GCC	10: 27,066,661 (GRCm39)		probably null	Het
Lrrc56	A	G	7: 140,789,298 (GRCm39)	T393A	probably benign	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Med14	T	C	X: 12,553,416 (GRCm39)	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,515,599 (GRCm39)	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,434,357 (GRCm39)	R306*	probably null	Het
Nolc1	CAG	CAGAAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,810 (GRCm39)		probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Npr1	A	T	3: 90,366,033 (GRCm39)	V586E	probably damaging	Het
Or2d2b	A	G	7: 106,705,670 (GRCm39)	S133P	probably benign	Het
Or5h24	A	C	16: 58,919,206 (GRCm39)	*50G	probably null	Het
Pcdhb4	T	C	18: 37,442,367 (GRCm39)	F559S	probably damaging	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Psme4	T	A	11: 30,806,027 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rgs11	A	T	17: 26,422,474 (GRCm39)	I69F	probably damaging	Het
Ryr1	C	T	7: 28,719,577 (GRCm39)	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,826,537 (GRCm39)	V1359I	probably benign	Het
Sis	A	T	3: 72,832,929 (GRCm39)	V956E	probably benign	Het
Slc35f3	T	A	8: 127,115,978 (GRCm39)	W302R	probably damaging	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Tdp2	C	A	13: 25,015,776 (GRCm39)	S21*	probably null	Het
Tfrc	A	T	16: 32,435,644 (GRCm39)	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,864,644 (GRCm39)	I917F	probably damaging	Het
Vbp1	T	C	X: 74,566,948 (GRCm39)	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,723,114 (GRCm39)	W185*	probably null	Het
Vmn1r70	A	G	7: 10,367,715 (GRCm39)	T68A	probably benign	Het
Zfp518a	A	G	19: 40,903,241 (GRCm39)	K1057E	possibly damaging	Het

Other mutations in Hoxc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Hoxc9	APN	15	102,892,432 (GRCm39)	missense	probably damaging	1.00
IGL01418:Hoxc9	APN	15	102,892,432 (GRCm39)	missense	probably damaging	1.00
IGL03031:Hoxc9	APN	15	102,892,522 (GRCm39)	missense	probably damaging	1.00
R0498:Hoxc9	UTSW	15	102,892,359 (GRCm39)	missense	probably damaging	1.00
R1436:Hoxc9	UTSW	15	102,890,304 (GRCm39)	missense	probably benign	0.03
R2059:Hoxc9	UTSW	15	102,892,555 (GRCm39)	missense	probably benign	0.01
R2414:Hoxc9	UTSW	15	102,892,540 (GRCm39)	missense	probably damaging	1.00
R2900:Hoxc9	UTSW	15	102,890,185 (GRCm39)	missense	probably benign	0.00
R3821:Hoxc9	UTSW	15	102,890,596 (GRCm39)	missense	probably benign	0.32
R4824:Hoxc9	UTSW	15	102,890,225 (GRCm39)	nonsense	probably null
R5165:Hoxc9	UTSW	15	102,892,432 (GRCm39)	missense	probably damaging	1.00
R5700:Hoxc9	UTSW	15	102,890,313 (GRCm39)	missense	possibly damaging	0.65
R5701:Hoxc9	UTSW	15	102,890,313 (GRCm39)	missense	possibly damaging	0.65
R6003:Hoxc9	UTSW	15	102,890,311 (GRCm39)	missense	probably benign	0.15
R6145:Hoxc9	UTSW	15	102,892,391 (GRCm39)	missense	probably damaging	1.00
R6570:Hoxc9	UTSW	15	102,890,185 (GRCm39)	missense	probably benign	0.00
R7312:Hoxc9	UTSW	15	102,890,593 (GRCm39)	missense	probably benign	0.02
R7434:Hoxc9	UTSW	15	102,892,414 (GRCm39)	missense	probably damaging	1.00
R8080:Hoxc9	UTSW	15	102,890,551 (GRCm39)	missense	probably benign	0.22
R8519:Hoxc9	UTSW	15	102,892,341 (GRCm39)	missense	probably damaging	1.00
R8792:Hoxc9	UTSW	15	102,890,226 (GRCm39)	missense	probably benign	0.00
R9705:Hoxc9	UTSW	15	102,890,362 (GRCm39)	missense	possibly damaging	0.80
R9717:Hoxc9	UTSW	15	102,890,551 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AAAGCCCCTGCGCATTGATC -3'
(R):5'- GATAGACCACAGACGACTGC -3'

Sequencing Primer
(F):5'- CGCGCCGTATTTTTGGGTAAATAC -3'
(R):5'- CACAGACGACTGCGAGGG -3'

Posted On

2015-04-02