Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02453:Col9a1'

293734

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col9a1

Ensembl Gene

ENSMUSG00000026147

Gene Name

collagen, type IX, alpha 1

Synonyms

Col9a-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL02453

Quality Score

Status

Chromosome

Chromosomal Location

24216691-24291765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24218438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 54 (L54F)

Ref Sequence

ENSEMBL: ENSMUSP00000051579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054588]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000054588
AA Change: L54F

SMART Domains

Protein: ENSMUSP00000051579
Gene: ENSMUSG00000026147
AA Change: L54F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TSPN	50	244	5.73e-78	SMART
Pfam:Collagen	266	326	2e-11	PFAM
Pfam:Collagen	308	358	3.5e-9	PFAM
Pfam:Collagen	357	409	1.2e-8	PFAM
Pfam:Collagen	415	472	7.8e-11	PFAM
Pfam:Collagen	454	515	2.9e-11	PFAM
Pfam:Collagen	592	667	3.9e-8	PFAM
Pfam:Collagen	646	716	1.7e-9	PFAM
Pfam:Collagen	697	760	1.6e-10	PFAM
Pfam:Collagen	785	848	3.1e-11	PFAM
low complexity region	878	899	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation show no conspicuous skeletal abnormalities at birth but develop early-onset degenerative joint disease resembling osteoarthritis as well as progressive hearing loss; restoration and remodeling of trabecular bone is perturbed with minimal effects on cortical bone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,950,075 (GRCm39)		probably null	Het
Actr1b	A	G	1: 36,741,588 (GRCm39)	S51P	probably damaging	Het
Cdhr3	T	C	12: 33,092,502 (GRCm39)	Y703C	probably damaging	Het
Crim1	A	G	17: 78,651,913 (GRCm39)	K546E	probably damaging	Het
Dap3	A	G	3: 88,835,634 (GRCm39)	V240A	probably benign	Het
Dmtf1l	G	T	X: 125,722,223 (GRCm39)	S294*	probably null	Het
Dmtf1l	T	C	X: 125,722,686 (GRCm39)	I140V	possibly damaging	Het
Hadha	T	C	5: 30,349,304 (GRCm39)		probably benign	Het
Imp3	G	T	9: 56,845,293 (GRCm39)	R168L	probably benign	Het
Or1b1	A	T	2: 36,995,209 (GRCm39)	V151E	probably benign	Het
Otop2	T	A	11: 115,215,455 (GRCm39)	Y125*	probably null	Het
Pacs1	A	G	19: 5,185,033 (GRCm39)	W931R	probably damaging	Het
Rasgrf1	A	T	9: 89,826,813 (GRCm39)	M141L	possibly damaging	Het
Ryr3	C	A	2: 112,512,073 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,476,520 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,396,432 (GRCm39)	M173K	possibly damaging	Het
Tmem63a	G	A	1: 180,790,634 (GRCm39)	V431M	probably benign	Het
Vmn2r114	T	A	17: 23,530,108 (GRCm39)	T100S	probably benign	Het
Wdr45	T	C	X: 7,593,520 (GRCm39)		probably null	Het

Other mutations in Col9a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Col9a1	APN	1	24,224,306 (GRCm39)	missense	unknown
IGL00517:Col9a1	APN	1	24,234,615 (GRCm39)	intron	probably benign
IGL01125:Col9a1	APN	1	24,263,726 (GRCm39)	critical splice acceptor site	probably null
IGL01505:Col9a1	APN	1	24,224,205 (GRCm39)	missense	unknown
IGL01583:Col9a1	APN	1	24,224,225 (GRCm39)	missense	unknown
IGL01627:Col9a1	APN	1	24,218,689 (GRCm39)	critical splice donor site	probably null
IGL01773:Col9a1	APN	1	24,244,147 (GRCm39)	missense	probably benign	0.17
IGL02117:Col9a1	APN	1	24,276,574 (GRCm39)	nonsense	probably null
IGL02192:Col9a1	APN	1	24,261,068 (GRCm39)	missense	probably damaging	1.00
IGL02346:Col9a1	APN	1	24,262,690 (GRCm39)	missense	probably damaging	0.96
IGL02383:Col9a1	APN	1	24,224,339 (GRCm39)	missense	unknown
IGL02553:Col9a1	APN	1	24,261,018 (GRCm39)	splice site	probably benign
IGL03412:Col9a1	APN	1	24,249,508 (GRCm39)	critical splice donor site	probably null
IGL03493:Col9a1	APN	1	24,260,651 (GRCm39)	splice site	probably benign
ANU74:Col9a1	UTSW	1	24,224,409 (GRCm39)	missense	unknown
R0076:Col9a1	UTSW	1	24,276,578 (GRCm39)	critical splice donor site	probably null
R0076:Col9a1	UTSW	1	24,276,578 (GRCm39)	critical splice donor site	probably null
R0090:Col9a1	UTSW	1	24,262,643 (GRCm39)	splice site	probably null
R0356:Col9a1	UTSW	1	24,224,328 (GRCm39)	nonsense	probably null
R0562:Col9a1	UTSW	1	24,218,360 (GRCm39)	splice site	probably null
R0584:Col9a1	UTSW	1	24,263,571 (GRCm39)	splice site	probably benign
R0708:Col9a1	UTSW	1	24,276,342 (GRCm39)	missense	possibly damaging	0.92
R1342:Col9a1	UTSW	1	24,262,701 (GRCm39)	critical splice donor site	probably null
R1445:Col9a1	UTSW	1	24,276,579 (GRCm39)	critical splice donor site	probably null
R1791:Col9a1	UTSW	1	24,224,386 (GRCm39)	missense	unknown
R1938:Col9a1	UTSW	1	24,261,554 (GRCm39)	missense	probably damaging	1.00
R2214:Col9a1	UTSW	1	24,247,283 (GRCm39)	missense	probably damaging	1.00
R2240:Col9a1	UTSW	1	24,218,582 (GRCm39)	missense	unknown
R3757:Col9a1	UTSW	1	24,271,312 (GRCm39)	critical splice donor site	probably null
R3891:Col9a1	UTSW	1	24,224,517 (GRCm39)	critical splice donor site	probably null
R4249:Col9a1	UTSW	1	24,283,462 (GRCm39)	missense	probably damaging	1.00
R4690:Col9a1	UTSW	1	24,263,787 (GRCm39)	splice site	probably null
R4918:Col9a1	UTSW	1	24,276,339 (GRCm39)	missense	possibly damaging	0.74
R4988:Col9a1	UTSW	1	24,224,273 (GRCm39)	missense	unknown
R5144:Col9a1	UTSW	1	24,278,434 (GRCm39)	missense	probably benign	0.08
R5327:Col9a1	UTSW	1	24,234,620 (GRCm39)	critical splice donor site	probably null
R5511:Col9a1	UTSW	1	24,218,619 (GRCm39)	missense	unknown
R5519:Col9a1	UTSW	1	24,269,335 (GRCm39)	splice site	probably null
R5564:Col9a1	UTSW	1	24,234,436 (GRCm39)	start gained	probably benign
R6076:Col9a1	UTSW	1	24,234,457 (GRCm39)	start gained	probably benign
R6478:Col9a1	UTSW	1	24,224,486 (GRCm39)	missense	unknown
R6886:Col9a1	UTSW	1	24,224,426 (GRCm39)	missense	unknown
R7177:Col9a1	UTSW	1	24,234,498 (GRCm39)	missense	unknown
R7259:Col9a1	UTSW	1	24,224,424 (GRCm39)	missense	unknown
R7268:Col9a1	UTSW	1	24,246,479 (GRCm39)	missense	possibly damaging	0.89
R7347:Col9a1	UTSW	1	24,218,484 (GRCm39)	splice site	probably null
R7644:Col9a1	UTSW	1	24,224,243 (GRCm39)	missense	unknown
R7860:Col9a1	UTSW	1	24,276,261 (GRCm39)	missense	probably damaging	1.00
R8267:Col9a1	UTSW	1	24,224,267 (GRCm39)	missense	unknown
R8296:Col9a1	UTSW	1	24,217,380 (GRCm39)	missense	unknown
R8737:Col9a1	UTSW	1	24,224,127 (GRCm39)	missense	unknown
R8773:Col9a1	UTSW	1	24,224,208 (GRCm39)	missense	unknown
R8795:Col9a1	UTSW	1	24,233,812 (GRCm39)	missense	unknown
R8878:Col9a1	UTSW	1	24,236,048 (GRCm39)	critical splice donor site	probably null
R8956:Col9a1	UTSW	1	24,276,300 (GRCm39)	missense	probably damaging	1.00
R8978:Col9a1	UTSW	1	24,278,396 (GRCm39)	missense	probably damaging	1.00
R9096:Col9a1	UTSW	1	24,224,207 (GRCm39)	missense	unknown
R9097:Col9a1	UTSW	1	24,224,207 (GRCm39)	missense	unknown
R9205:Col9a1	UTSW	1	24,224,175 (GRCm39)	missense	unknown
R9534:Col9a1	UTSW	1	24,224,250 (GRCm39)	missense	unknown
Z1176:Col9a1	UTSW	1	24,253,669 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16