Incidental Mutation 'IGL03135:Col25a1'
| ID |
410506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Col25a1
|
| Ensembl Gene |
ENSMUSG00000058897 |
| Gene Name |
collagen, type XXV, alpha 1 |
| Synonyms |
2700062B08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL03135
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
129973992-130393533 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 130323332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080335]
[ENSMUST00000106353]
[ENSMUST00000183368]
|
| AlphaFold |
Q99MQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080335
|
| SMART Domains |
Protein: ENSMUSP00000079210
Gene: ENSMUSG00000058897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
119 |
165 |
7e-9 |
PFAM |
|
low complexity region
|
188 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
311 |
374 |
5.4e-11 |
PFAM |
|
Pfam:Collagen
|
368 |
427 |
2e-9 |
PFAM |
|
Pfam:Collagen
|
447 |
504 |
1.6e-10 |
PFAM |
|
Pfam:Collagen
|
494 |
561 |
3.3e-8 |
PFAM |
|
Pfam:Collagen
|
586 |
660 |
4.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106353
|
| SMART Domains |
Protein: ENSMUSP00000101960
Gene: ENSMUSG00000058897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
119 |
174 |
1.7e-11 |
PFAM |
|
Pfam:Collagen
|
183 |
244 |
6.2e-12 |
PFAM |
|
Pfam:Collagen
|
233 |
297 |
7.5e-11 |
PFAM |
|
Pfam:Collagen
|
294 |
345 |
1.8e-9 |
PFAM |
|
Pfam:Collagen
|
343 |
399 |
1.1e-10 |
PFAM |
|
Pfam:Collagen
|
419 |
475 |
1.9e-10 |
PFAM |
|
low complexity region
|
490 |
525 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
555 |
622 |
6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143830
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183368
|
| SMART Domains |
Protein: ENSMUSP00000138875
Gene: ENSMUSG00000058897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
119 |
165 |
6.8e-9 |
PFAM |
|
low complexity region
|
188 |
246 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
249 |
294 |
2.8e-5 |
PROSPERO |
|
internal_repeat_1
|
294 |
308 |
4.06e-8 |
PROSPERO |
|
Pfam:Collagen
|
309 |
372 |
2.1e-11 |
PFAM |
|
Pfam:Collagen
|
371 |
427 |
3.7e-10 |
PFAM |
|
Pfam:Collagen
|
447 |
496 |
7.7e-10 |
PFAM |
|
low complexity region
|
497 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
571 |
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 a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, cyanosis and abnormal body curvature with apoptosis of phrenic nerve motor neurons and failure of diaphragm innervation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
| Arhgap27 |
T |
A |
11: 103,229,891 (GRCm39) |
|
probably null |
Het |
| Arl8b |
A |
C |
6: 108,795,506 (GRCm39) |
N148T |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,976,375 (GRCm39) |
F434L |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,849,722 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,822,458 (GRCm39) |
R1249I |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,757,100 (GRCm39) |
F161L |
probably benign |
Het |
| Ccr8 |
A |
T |
9: 119,923,689 (GRCm39) |
D268V |
possibly damaging |
Het |
| Cpn1 |
A |
G |
19: 43,974,693 (GRCm39) |
L12P |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,121,987 (GRCm39) |
I1360T |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,013 (GRCm39) |
E183G |
probably damaging |
Het |
| Dpp8 |
T |
A |
9: 64,960,322 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
C |
A |
17: 56,297,416 (GRCm39) |
|
probably null |
Het |
| Grina |
T |
A |
15: 76,132,162 (GRCm39) |
F28I |
possibly damaging |
Het |
| H2-M3 |
G |
A |
17: 37,583,324 (GRCm39) |
D262N |
possibly damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,543,587 (GRCm39) |
T188M |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,805,086 (GRCm39) |
I353T |
probably damaging |
Het |
| Lrrc41 |
C |
A |
4: 115,945,728 (GRCm39) |
R148S |
probably benign |
Het |
| Lrrc8e |
T |
A |
8: 4,285,776 (GRCm39) |
L667Q |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,912,638 (GRCm39) |
F1641L |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,162,386 (GRCm39) |
T443S |
probably benign |
Het |
| Naga |
C |
A |
15: 82,214,942 (GRCm39) |
V339F |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,338,741 (GRCm39) |
K702E |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,678,381 (GRCm39) |
M529T |
probably damaging |
Het |
| Parp8 |
A |
G |
13: 117,047,478 (GRCm39) |
V198A |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,588 (GRCm39) |
H461L |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,645,159 (GRCm39) |
D236G |
possibly damaging |
Het |
| Psg21 |
T |
C |
7: 18,388,843 (GRCm39) |
D83G |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,546,111 (GRCm39) |
C308R |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,439,100 (GRCm39) |
S696T |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,033,274 (GRCm39) |
L695Q |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,823,950 (GRCm39) |
I393F |
probably benign |
Het |
| Serpina3j |
T |
A |
12: 104,281,166 (GRCm39) |
I113N |
probably damaging |
Het |
| Slc4a3 |
C |
A |
1: 75,524,579 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,171,570 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
C |
T |
12: 81,249,023 (GRCm39) |
V802M |
probably damaging |
Het |
| Smarcal1 |
T |
A |
1: 72,655,660 (GRCm39) |
|
probably null |
Het |
| Tmprss11c |
A |
G |
5: 86,385,509 (GRCm39) |
V308A |
probably damaging |
Het |
| Trim10 |
A |
G |
17: 37,185,113 (GRCm39) |
R279G |
possibly damaging |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,832,097 (GRCm39) |
|
probably benign |
Het |
| Urgcp |
G |
A |
11: 5,666,091 (GRCm39) |
T749I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,786,018 (GRCm39) |
I274V |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,267,653 (GRCm39) |
F40L |
probably benign |
Het |
| Ywhab |
A |
G |
2: 163,857,195 (GRCm39) |
I157V |
probably benign |
Het |
| Zfp638 |
G |
A |
6: 83,919,857 (GRCm39) |
R485H |
probably damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,737 (GRCm39) |
I170T |
probably benign |
Het |
|
| Other mutations in Col25a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Col25a1
|
APN |
3 |
129,975,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL00570:Col25a1
|
APN |
3 |
130,340,081 (GRCm39) |
splice site |
probably benign |
|
|
IGL01651:Col25a1
|
APN |
3 |
130,360,134 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02033:Col25a1
|
APN |
3 |
130,182,597 (GRCm39) |
splice site |
probably benign |
|
|
IGL02117:Col25a1
|
APN |
3 |
130,313,422 (GRCm39) |
splice site |
probably benign |
|
|
IGL02290:Col25a1
|
APN |
3 |
130,313,460 (GRCm39) |
splice site |
probably benign |
|
|
R0526:Col25a1
|
UTSW |
3 |
130,270,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Col25a1
|
UTSW |
3 |
130,369,063 (GRCm39) |
splice site |
probably null |
|
|
R0670:Col25a1
|
UTSW |
3 |
130,180,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0830:Col25a1
|
UTSW |
3 |
130,378,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1220:Col25a1
|
UTSW |
3 |
130,182,574 (GRCm39) |
splice site |
probably benign |
|
|
R1623:Col25a1
|
UTSW |
3 |
130,343,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Col25a1
|
UTSW |
3 |
130,379,386 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2142:Col25a1
|
UTSW |
3 |
130,363,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2190:Col25a1
|
UTSW |
3 |
130,378,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Col25a1
|
UTSW |
3 |
130,340,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2902:Col25a1
|
UTSW |
3 |
130,340,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Col25a1
|
UTSW |
3 |
130,343,682 (GRCm39) |
splice site |
probably null |
|
|
R3818:Col25a1
|
UTSW |
3 |
130,343,720 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4726:Col25a1
|
UTSW |
3 |
130,313,430 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4775:Col25a1
|
UTSW |
3 |
129,976,468 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5036:Col25a1
|
UTSW |
3 |
130,376,978 (GRCm39) |
splice site |
probably null |
|
|
R5110:Col25a1
|
UTSW |
3 |
130,378,374 (GRCm39) |
makesense |
probably null |
|
|
R5501:Col25a1
|
UTSW |
3 |
130,389,312 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5686:Col25a1
|
UTSW |
3 |
130,357,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Col25a1
|
UTSW |
3 |
130,272,632 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6131:Col25a1
|
UTSW |
3 |
130,329,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Col25a1
|
UTSW |
3 |
130,376,978 (GRCm39) |
splice site |
probably benign |
|
|
R6549:Col25a1
|
UTSW |
3 |
129,976,444 (GRCm39) |
missense |
probably benign |
|
|
R6624:Col25a1
|
UTSW |
3 |
130,360,100 (GRCm39) |
splice site |
probably null |
|
|
R6898:Col25a1
|
UTSW |
3 |
130,378,377 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7030:Col25a1
|
UTSW |
3 |
130,272,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7114:Col25a1
|
UTSW |
3 |
130,389,324 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7172:Col25a1
|
UTSW |
3 |
130,363,981 (GRCm39) |
nonsense |
probably null |
|
|
R7179:Col25a1
|
UTSW |
3 |
130,323,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7340:Col25a1
|
UTSW |
3 |
130,340,006 (GRCm39) |
splice site |
probably null |
|
|
R7488:Col25a1
|
UTSW |
3 |
130,378,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Col25a1
|
UTSW |
3 |
130,316,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7976:Col25a1
|
UTSW |
3 |
130,290,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Col25a1
|
UTSW |
3 |
130,290,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Col25a1
|
UTSW |
3 |
130,345,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Col25a1
|
UTSW |
3 |
130,342,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Col25a1
|
UTSW |
3 |
130,354,466 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8973:Col25a1
|
UTSW |
3 |
130,269,275 (GRCm39) |
missense |
unknown |
|
|
R9059:Col25a1
|
UTSW |
3 |
130,268,499 (GRCm39) |
missense |
unknown |
|
|
X0028:Col25a1
|
UTSW |
3 |
130,370,967 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Col25a1
|
UTSW |
3 |
129,976,444 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Col25a1
|
UTSW |
3 |
130,316,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation