Mutagenetix > Incidental Mutation

Incidental Mutation 'R5700:Hoxc9'

450866

Institutional Source

Beutler Lab

Gene Symbol

Hoxc9

Ensembl Gene

ENSMUSG00000036139

Gene Name

homeobox C9

Synonyms

Hox-3.2

MMRRC Submission

043328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5700 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

102885467-102893324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102890313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 77 (Y77H)

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: Y77H

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001706
Gene: ENSMUSG00000036139
AA Change: Y77H

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

0.5199

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,786,633 (GRCm39)	Q155L	probably benign	Het
Acadvl	A	C	11: 69,904,029 (GRCm39)	Y242D	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Barx2	A	T	9: 31,770,061 (GRCm39)	F156I	probably damaging	Het
Best1	T	C	19: 9,974,563 (GRCm39)		probably benign	Het
Btbd8	T	C	5: 107,651,514 (GRCm39)	S136P	possibly damaging	Het
Btla	T	A	16: 45,070,936 (GRCm39)	Y298*	probably null	Het
Casr	T	A	16: 36,329,979 (GRCm39)	I452F	probably damaging	Het
Ccser1	C	A	6: 61,288,260 (GRCm39)	P141H	probably benign	Het
Cr2	A	G	1: 194,842,065 (GRCm39)	V296A	probably damaging	Het
Csl	T	A	10: 99,594,877 (GRCm39)	I63F	probably damaging	Het
Dbt	G	A	3: 116,313,952 (GRCm39)	V40M	probably damaging	Het
Fam53b	A	T	7: 132,361,749 (GRCm39)	L93Q	probably damaging	Het
Fdps	T	C	3: 89,002,956 (GRCm39)	I105V	probably damaging	Het
Gm4884	A	G	7: 40,692,643 (GRCm39)	D204G	probably benign	Het
Gm5592	A	G	7: 40,808,003 (GRCm39)		probably benign	Het
Gm7367	A	T	7: 59,805,510 (GRCm39)		noncoding transcript	Het
Grid2	T	A	6: 64,071,416 (GRCm39)	V413D	possibly damaging	Het
Hgf	C	T	5: 16,815,122 (GRCm39)	P471L	probably damaging	Het
Hs6st3	C	T	14: 119,376,199 (GRCm39)	R125*	probably null	Het
Kdm4b	T	C	17: 56,658,700 (GRCm39)	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,755,476 (GRCm39)	N93S	probably benign	Het
Klhl6	G	A	16: 19,775,968 (GRCm39)	Q197*	probably null	Het
Medag	T	C	5: 149,345,682 (GRCm39)	V7A	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Nckap5	C	T	1: 125,904,662 (GRCm39)		probably null	Het
Obscn	T	C	11: 59,024,020 (GRCm39)	K550R	probably benign	Het
Or2d36	A	G	7: 106,746,748 (GRCm39)	N75S	probably benign	Het
Or2w1b	T	A	13: 21,300,171 (GRCm39)	V103E	probably damaging	Het
Or5h25	T	A	16: 58,930,356 (GRCm39)	I206F	probably damaging	Het
Or7a42	T	C	10: 78,791,318 (GRCm39)	I93T	probably damaging	Het
Parp6	T	C	9: 59,532,010 (GRCm39)	S101P	probably damaging	Het
Plcd3	T	C	11: 102,964,589 (GRCm39)	N594S	probably benign	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Ppp2r1b	T	C	9: 50,789,457 (GRCm39)	Y443H	probably damaging	Het
Prnd	G	A	2: 131,795,263 (GRCm39)	V128I	probably benign	Het
Rftn1	G	T	17: 50,309,697 (GRCm39)	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,374,143 (GRCm39)	V445A	probably benign	Het
Serpinb6c	A	T	13: 34,083,291 (GRCm39)	M41K	probably damaging	Het
Slc66a1	C	T	4: 139,027,565 (GRCm39)	S259N	probably damaging	Het
Spns1	A	G	7: 125,971,641 (GRCm39)	V303A	possibly damaging	Het
Ston1	T	A	17: 88,951,767 (GRCm39)	S639R	probably damaging	Het
Thbs4	T	C	13: 92,913,461 (GRCm39)	D153G	probably benign	Het
Timm44	T	C	8: 4,324,171 (GRCm39)	Y36C	probably damaging	Het
Trim34b	G	T	7: 103,985,618 (GRCm39)	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,404,350 (GRCm39)	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084 (GRCm39)	V412A	probably benign	Het
Zfand1	T	A	3: 10,406,079 (GRCm39)	N210I	probably damaging	Het
Zfhx3	A	G	8: 109,660,499 (GRCm39)	H1251R	probably 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
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
R5165:Hoxc9	UTSW	15	102,892,432 (GRCm39)	missense	probably damaging	1.00
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'- ATTACGTGGACTCGCTCATC -3'
(R):5'- GTACATGTAGTCCGGGTAGC -3'

Sequencing Primer
(F):5'- TCGCTCATCTCTCACGACAATGAAG -3'
(R):5'- TAGTCCGGGTAGCTGCGG -3'

Posted On

2017-01-03