Incidental Mutation 'IGL01022:Col9a3'
ID |
53464 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Col9a3
|
Ensembl Gene |
ENSMUSG00000027570 |
Gene Name |
collagen, type IX, alpha 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
IGL01022
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
180239895-180263985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 180258227 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 549
(I549F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103059]
[ENSMUST00000132527]
|
AlphaFold |
A2ACT7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103059
AA Change: I549F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099348 Gene: ENSMUSG00000027570 AA Change: I549F
Domain | Start | End | E-Value | Type |
Pfam:Collagen
|
21 |
80 |
7.7e-12 |
PFAM |
Pfam:Collagen
|
58 |
114 |
4.2e-9 |
PFAM |
low complexity region
|
126 |
162 |
N/A |
INTRINSIC |
Pfam:Collagen
|
174 |
236 |
4.1e-12 |
PFAM |
Pfam:Collagen
|
213 |
292 |
8e-9 |
PFAM |
internal_repeat_1
|
315 |
366 |
1.58e-12 |
PROSPERO |
internal_repeat_2
|
360 |
382 |
2.94e-6 |
PROSPERO |
low complexity region
|
384 |
396 |
N/A |
INTRINSIC |
Pfam:Collagen
|
456 |
518 |
1.8e-11 |
PFAM |
Pfam:Collagen
|
545 |
606 |
3.8e-11 |
PFAM |
low complexity region
|
635 |
656 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129090
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132527
AA Change: I549F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128718 Gene: ENSMUSG00000027570 AA Change: I549F
Domain | Start | End | E-Value | Type |
Pfam:Collagen
|
21 |
80 |
7.9e-12 |
PFAM |
Pfam:Collagen
|
58 |
114 |
4.3e-9 |
PFAM |
Pfam:Collagen
|
109 |
166 |
4.5e-8 |
PFAM |
Pfam:Collagen
|
174 |
236 |
4.2e-12 |
PFAM |
Pfam:Collagen
|
213 |
292 |
8.2e-9 |
PFAM |
internal_repeat_1
|
315 |
366 |
1.58e-12 |
PROSPERO |
internal_repeat_2
|
360 |
382 |
2.94e-6 |
PROSPERO |
low complexity region
|
384 |
396 |
N/A |
INTRINSIC |
Pfam:Collagen
|
402 |
474 |
8.2e-8 |
PFAM |
Pfam:Collagen
|
456 |
518 |
1.8e-11 |
PFAM |
Pfam:Collagen
|
545 |
606 |
3.9e-11 |
PFAM |
Pfam:Collagen
|
603 |
662 |
2.5e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165224
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165879
|
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, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,721 (GRCm39) |
S927P |
probably benign |
Het |
Arfgef1 |
G |
T |
1: 10,244,301 (GRCm39) |
F987L |
probably damaging |
Het |
Asph |
A |
T |
4: 9,601,344 (GRCm39) |
N191K |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,577,099 (GRCm39) |
C71S |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,951,652 (GRCm39) |
S2920T |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,562,308 (GRCm39) |
R1030* |
probably null |
Het |
Chd8 |
T |
C |
14: 52,474,450 (GRCm39) |
T194A |
probably benign |
Het |
Fstl4 |
A |
G |
11: 53,077,568 (GRCm39) |
N775S |
probably benign |
Het |
Gm10800 |
T |
A |
2: 98,497,576 (GRCm39) |
|
probably benign |
Het |
Gm5117 |
T |
A |
8: 32,228,515 (GRCm39) |
|
noncoding transcript |
Het |
Hap1 |
A |
G |
11: 100,240,374 (GRCm39) |
L112P |
probably benign |
Het |
Hcls1 |
C |
A |
16: 36,771,488 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,507,699 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
A |
1: 128,228,596 (GRCm39) |
I966L |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,474,361 (GRCm39) |
I451F |
possibly damaging |
Het |
Notch4 |
G |
A |
17: 34,784,671 (GRCm39) |
C128Y |
probably damaging |
Het |
Oca2 |
T |
A |
7: 55,974,504 (GRCm39) |
N484K |
probably damaging |
Het |
Or51f1e |
T |
G |
7: 102,747,077 (GRCm39) |
L43R |
probably damaging |
Het |
Or7a42 |
A |
T |
10: 78,791,188 (GRCm39) |
I50F |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,671,066 (GRCm39) |
R1362* |
probably null |
Het |
Sema3a |
C |
T |
5: 13,523,433 (GRCm39) |
T134I |
probably damaging |
Het |
Sfta2 |
C |
T |
17: 35,961,336 (GRCm39) |
T74I |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,353 (GRCm39) |
|
noncoding transcript |
Het |
Spag11a |
A |
T |
8: 19,208,005 (GRCm39) |
Q15H |
probably damaging |
Het |
Tbc1d22a |
G |
A |
15: 86,185,756 (GRCm39) |
D282N |
probably damaging |
Het |
Tmbim6 |
G |
A |
15: 99,300,003 (GRCm39) |
V40M |
possibly damaging |
Het |
Tmem259 |
A |
G |
10: 79,819,808 (GRCm39) |
V22A |
probably damaging |
Het |
Tnik |
T |
C |
3: 28,679,377 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,424,610 (GRCm39) |
D2002G |
probably benign |
Het |
|
Other mutations in Col9a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01542:Col9a3
|
APN |
2 |
180,251,109 (GRCm39) |
splice site |
probably benign |
|
IGL01727:Col9a3
|
APN |
2 |
180,258,358 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02558:Col9a3
|
APN |
2 |
180,248,599 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03112:Col9a3
|
APN |
2 |
180,249,435 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02796:Col9a3
|
UTSW |
2 |
180,255,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0022:Col9a3
|
UTSW |
2 |
180,261,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R0022:Col9a3
|
UTSW |
2 |
180,261,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Col9a3
|
UTSW |
2 |
180,251,280 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0046:Col9a3
|
UTSW |
2 |
180,251,280 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0477:Col9a3
|
UTSW |
2 |
180,251,263 (GRCm39) |
splice site |
probably benign |
|
R0890:Col9a3
|
UTSW |
2 |
180,251,856 (GRCm39) |
missense |
probably benign |
0.23 |
R1934:Col9a3
|
UTSW |
2 |
180,248,927 (GRCm39) |
missense |
probably damaging |
0.98 |
R4355:Col9a3
|
UTSW |
2 |
180,248,271 (GRCm39) |
missense |
probably benign |
0.00 |
R4571:Col9a3
|
UTSW |
2 |
180,258,159 (GRCm39) |
splice site |
probably benign |
|
R4688:Col9a3
|
UTSW |
2 |
180,249,424 (GRCm39) |
missense |
probably damaging |
0.99 |
R4731:Col9a3
|
UTSW |
2 |
180,252,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R4742:Col9a3
|
UTSW |
2 |
180,245,180 (GRCm39) |
missense |
unknown |
|
R4847:Col9a3
|
UTSW |
2 |
180,257,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4985:Col9a3
|
UTSW |
2 |
180,245,193 (GRCm39) |
missense |
unknown |
|
R5488:Col9a3
|
UTSW |
2 |
180,258,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5489:Col9a3
|
UTSW |
2 |
180,258,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5573:Col9a3
|
UTSW |
2 |
180,261,525 (GRCm39) |
missense |
probably benign |
0.17 |
R5575:Col9a3
|
UTSW |
2 |
180,240,639 (GRCm39) |
intron |
probably benign |
|
R6820:Col9a3
|
UTSW |
2 |
180,248,927 (GRCm39) |
missense |
probably damaging |
0.98 |
R7114:Col9a3
|
UTSW |
2 |
180,245,590 (GRCm39) |
missense |
unknown |
|
R7710:Col9a3
|
UTSW |
2 |
180,251,158 (GRCm39) |
missense |
probably damaging |
0.98 |
R8177:Col9a3
|
UTSW |
2 |
180,249,450 (GRCm39) |
missense |
probably damaging |
0.97 |
R8342:Col9a3
|
UTSW |
2 |
180,245,183 (GRCm39) |
missense |
unknown |
|
R8472:Col9a3
|
UTSW |
2 |
180,247,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R8783:Col9a3
|
UTSW |
2 |
180,255,970 (GRCm39) |
missense |
probably damaging |
0.98 |
R9683:Col9a3
|
UTSW |
2 |
180,248,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-06-28 |