Mutagenetix > Incidental Mutation

Incidental Mutation 'R5165:Hoxc9'

395672

Institutional Source

Beutler Lab

Gene Symbol

Hoxc9

Ensembl Gene

ENSMUSG00000036139

Gene Name

homeobox C9

Synonyms

Hox-3.2

MMRRC Submission

042746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102885467-102893324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102892432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 215 (M215K)

Ref Sequence

ENSEMBL: ENSMUSP00000001706 (fasta)

Gene Model

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

AlphaFold

P09633

Predicted Effect

probably damaging
Transcript: ENSMUST00000001706
AA Change: M215K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001706
Gene: ENSMUSG00000036139
AA Change: M215K

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

Meta Mutation Damage Score

0.3463

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,503,814 (GRCm39)	I77F	probably benign	Het
Actl6a	G	A	3: 32,774,357 (GRCm39)	V285I	probably benign	Het
Adam9	A	T	8: 25,457,190 (GRCm39)	I646N	possibly damaging	Het
Ahnak	T	C	19: 8,993,029 (GRCm39)	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,118,454 (GRCm39)	T223A	probably damaging	Het
Apc2	A	G	10: 80,151,684 (GRCm39)	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,489,105 (GRCm39)	I795T	probably benign	Het
Ccn3	A	G	15: 54,612,585 (GRCm39)	D198G	probably damaging	Het
Cdhr4	T	C	9: 107,874,829 (GRCm39)	L633P	probably damaging	Het
Cep350	A	G	1: 155,804,114 (GRCm39)	S990P	probably damaging	Het
Cplx2	A	G	13: 54,526,789 (GRCm39)	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 95,506,504 (GRCm39)	S170P	probably benign	Het
Cyth1	T	C	11: 118,059,908 (GRCm39)	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,644,976 (GRCm39)		probably null	Het
Dmwd	G	A	7: 18,811,960 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,080 (GRCm39)	H516R	probably damaging	Het
Efemp2	T	C	19: 5,525,439 (GRCm39)	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,608,001 (GRCm39)	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,840,212 (GRCm39)	V26A	probably damaging	Het
Gkap1	A	G	13: 58,411,010 (GRCm39)		probably null	Het
Gstcd	A	C	3: 132,790,440 (GRCm39)	V109G	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnj9	A	T	1: 172,150,724 (GRCm39)	D296E	probably benign	Het
Kctd18	T	C	1: 57,998,395 (GRCm39)	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,886,410 (GRCm39)	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,735,857 (GRCm39)	S692P	probably benign	Het
Lrrc10	A	T	10: 116,881,965 (GRCm39)	N213I	probably benign	Het
Nceh1	G	A	3: 27,295,677 (GRCm39)	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,643,759 (GRCm39)	H53Q	probably damaging	Het
Ntmt2	A	G	1: 163,550,092 (GRCm39)	I53T	probably benign	Het
Or14j7	A	G	17: 38,235,252 (GRCm39)	D265G	probably benign	Het
Or2y16	A	G	11: 49,335,203 (GRCm39)	H175R	probably damaging	Het
Or4f53	T	A	2: 111,087,568 (GRCm39)	V36E	possibly damaging	Het
Or5b97	A	T	19: 12,878,564 (GRCm39)	N193K	probably benign	Het
Oxct1	A	T	15: 4,083,251 (GRCm39)	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,808,723 (GRCm39)	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,944,909 (GRCm39)	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,496,136 (GRCm39)	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,529,130 (GRCm39)	S229T	possibly damaging	Het
Shank2	T	A	7: 143,963,373 (GRCm39)	V327D	possibly damaging	Het
Skint6	A	T	4: 112,722,865 (GRCm39)	V904E	possibly damaging	Het
Slfn8	A	T	11: 82,907,953 (GRCm39)	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,077 (GRCm39)	L23Q	unknown	Het
Snx29	T	A	16: 11,238,639 (GRCm39)	M23K	probably damaging	Het
Synrg	T	C	11: 83,881,761 (GRCm39)	S366P	probably benign	Het
Tomm40	A	G	7: 19,447,592 (GRCm39)		probably null	Het
Tpcn1	T	C	5: 120,696,010 (GRCm39)	E81G	probably damaging	Het
Trappc1	A	G	11: 69,215,060 (GRCm39)	Q26R	probably benign	Het
Ttn	T	A	2: 76,606,900 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,873,293 (GRCm39)	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,848,201 (GRCm39)	Y132*	probably null	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
R3807:Hoxc9	UTSW	15	102,890,116 (GRCm39)	missense	possibly damaging	0.94
R3821:Hoxc9	UTSW	15	102,890,596 (GRCm39)	missense	probably benign	0.32
R4824:Hoxc9	UTSW	15	102,890,225 (GRCm39)	nonsense	probably null
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'- ATGACAGAGGTCCTGAGCTG -3'
(R):5'- CCTCCTCCTCGATGGATAGAAC -3'

Sequencing Primer
(F):5'- TCCTGAGCTGGAAGGGAAC -3'
(R):5'- TCCTCCTCGATGGATAGAACTAACTC -3'

Posted On

2016-06-21