Incidental Mutation 'IGL03493:Col23a1'
| ID |
490736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Col23a1
|
| Ensembl Gene |
ENSMUSG00000063564 |
| Gene Name |
collagen, type XXIII, alpha 1 |
| Synonyms |
2810458L13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL03493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
51180747-51474745 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 51455632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102765]
|
| AlphaFold |
Q8K4G2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102765
|
| SMART Domains |
Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
50 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
107 |
162 |
3.7e-10 |
PFAM |
|
Pfam:Collagen
|
140 |
207 |
1.3e-9 |
PFAM |
|
low complexity region
|
212 |
237 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
239 |
299 |
1.8e-11 |
PFAM |
|
Pfam:Collagen
|
309 |
367 |
1.8e-10 |
PFAM |
|
Pfam:Collagen
|
331 |
390 |
6.6e-11 |
PFAM |
|
Pfam:Collagen
|
402 |
463 |
2.4e-11 |
PFAM |
|
Pfam:Collagen
|
455 |
523 |
3.7e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
| Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
| Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
| Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
| Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
| Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
| Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
| Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
| Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
| Other mutations in Col23a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02797:Col23a1
|
APN |
11 |
51,452,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02997:Col23a1
|
APN |
11 |
51,467,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Col23a1
|
APN |
11 |
51,458,746 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0755:Col23a1
|
UTSW |
11 |
51,467,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Col23a1
|
UTSW |
11 |
51,452,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1721:Col23a1
|
UTSW |
11 |
51,418,716 (GRCm39) |
missense |
unknown |
|
|
R1939:Col23a1
|
UTSW |
11 |
51,442,816 (GRCm39) |
missense |
unknown |
|
|
R2032:Col23a1
|
UTSW |
11 |
51,450,835 (GRCm39) |
missense |
unknown |
|
|
R2139:Col23a1
|
UTSW |
11 |
51,464,861 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4829:Col23a1
|
UTSW |
11 |
51,448,413 (GRCm39) |
missense |
unknown |
|
|
R5536:Col23a1
|
UTSW |
11 |
51,458,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Col23a1
|
UTSW |
11 |
51,464,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Col23a1
|
UTSW |
11 |
51,440,552 (GRCm39) |
splice site |
probably null |
|
|
R6945:Col23a1
|
UTSW |
11 |
51,452,720 (GRCm39) |
missense |
unknown |
|
|
R7145:Col23a1
|
UTSW |
11 |
51,456,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7863:Col23a1
|
UTSW |
11 |
51,463,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Col23a1
|
UTSW |
11 |
51,461,014 (GRCm39) |
splice site |
probably null |
|
|
R8347:Col23a1
|
UTSW |
11 |
51,462,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Col23a1
|
UTSW |
11 |
51,458,756 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9480:Col23a1
|
UTSW |
11 |
51,207,774 (GRCm39) |
missense |
unknown |
|
|
Z1176:Col23a1
|
UTSW |
11 |
51,440,535 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2017-10-20 |
Incidental Mutation