Incidental Mutation 'ANU74:Col9a1'
| ID |
262668 |
| Institutional Source |
Beutler Lab
|
| 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: 0.092)
|
| Stock # |
ANU74
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
24216691-24291765 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24224409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 197
(D197G)
|
| 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: D197G
|
| SMART Domains |
Protein: ENSMUSP00000051579
Gene: ENSMUSG00000026147
AA Change: D197G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
G |
A |
5: 50,118,380 (GRCm39) |
S1056L |
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,529,736 (GRCm39) |
D236E |
probably benign |
Het |
| Capn15 |
C |
T |
17: 26,184,460 (GRCm39) |
W7* |
probably null |
Het |
| Celsr2 |
G |
A |
3: 108,319,815 (GRCm39) |
T999M |
probably damaging |
Het |
| Chrd |
T |
A |
16: 20,560,069 (GRCm39) |
M912K |
possibly damaging |
Het |
| Csf1r |
A |
G |
18: 61,250,463 (GRCm39) |
E431G |
probably benign |
Het |
| Eloc |
A |
G |
1: 16,713,574 (GRCm39) |
F115L |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,378,113 (GRCm39) |
D193G |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,253,162 (GRCm39) |
Y210H |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,802 (GRCm39) |
T4R |
probably benign |
Het |
| Grb2 |
A |
T |
11: 115,536,733 (GRCm39) |
D131E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,964,853 (GRCm39) |
T658A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,627 (GRCm39) |
E1289G |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,292,560 (GRCm39) |
N92D |
possibly damaging |
Het |
| Irf8 |
A |
C |
8: 121,466,608 (GRCm39) |
I18L |
possibly damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
GC |
"GCCTCCACCCGGCGGTC,GCC" |
4: 63,089,663 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
C |
1: 153,007,581 (GRCm39) |
D864E |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,863 (GRCm39) |
V1475A |
probably damaging |
Het |
| Mapk8ip3 |
A |
C |
17: 25,119,551 (GRCm39) |
M1030R |
possibly damaging |
Het |
| Mat1a |
A |
G |
14: 40,833,099 (GRCm39) |
D94G |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,993,295 (GRCm39) |
D1643E |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,769,239 (GRCm39) |
F55L |
probably damaging |
Het |
| Nhlh2 |
A |
T |
3: 101,919,970 (GRCm39) |
M1L |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,924,978 (GRCm39) |
S1836P |
probably damaging |
Het |
| Olr1 |
G |
A |
6: 129,477,032 (GRCm39) |
R78C |
possibly damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
| Pam16 |
C |
A |
16: 4,434,497 (GRCm39) |
V98F |
probably damaging |
Het |
| Pelp1 |
C |
T |
11: 70,285,913 (GRCm39) |
V652I |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,437,236 (GRCm39) |
H67R |
probably benign |
Het |
| Rbms1 |
G |
T |
2: 60,628,060 (GRCm39) |
A60E |
probably damaging |
Het |
| Recql4 |
A |
T |
15: 76,589,957 (GRCm39) |
M789K |
possibly damaging |
Het |
| Rrn3 |
T |
C |
16: 13,629,397 (GRCm39) |
F571S |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,575 (GRCm39) |
|
probably null |
Het |
| Sec61b |
C |
A |
4: 47,474,922 (GRCm39) |
N26K |
possibly damaging |
Het |
| Serinc1 |
T |
C |
10: 57,395,938 (GRCm39) |
E284G |
probably benign |
Het |
| Slc30a9 |
G |
A |
5: 67,507,195 (GRCm39) |
D496N |
probably damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,140,554 (GRCm39) |
R249H |
probably damaging |
Het |
| Slc6a13 |
A |
C |
6: 121,311,835 (GRCm39) |
D404A |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,828,456 (GRCm39) |
E225G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,437,893 (GRCm39) |
G1351S |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,890,310 (GRCm39) |
V691A |
probably damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,149 (GRCm39) |
R738Q |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,027,454 (GRCm39) |
I506N |
probably damaging |
Het |
| Ube2v1 |
G |
A |
2: 167,452,264 (GRCm39) |
T113I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,366,910 (GRCm39) |
S437T |
probably benign |
Het |
| Vmn2r78 |
G |
C |
7: 86,570,273 (GRCm39) |
V264L |
possibly damaging |
Het |
| Zfp956 |
T |
G |
6: 47,940,507 (GRCm39) |
Y289D |
probably benign |
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 |
|
|
IGL02453:Col9a1
|
APN |
1 |
24,218,438 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGCAGATCCAGGATTCCGC -3'
(R):5'- GTGTTCCACACAGCACTCAAAACTG -3'
Sequencing Primer
(F):5'- TTCCGCAGGGAGAGAGC -3'
(R):5'- AGTGAGTAACTACCCACTGTATG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation