Incidental Mutation 'IGL00336:Col25a1'
| ID |
6754 |
| 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: 0.136)
|
| Stock # |
IGL00336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
129973992-130393533 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 129975433 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197950
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,645,366 (GRCm39) |
Y417C |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,859,569 (GRCm39) |
H548L |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,823,771 (GRCm39) |
D812V |
probably damaging |
Het |
| Aopep |
A |
T |
13: 63,163,237 (GRCm39) |
D86V |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,098,203 (GRCm39) |
L305Q |
probably damaging |
Het |
| Arhgef38 |
A |
G |
3: 132,837,812 (GRCm39) |
V706A |
probably benign |
Het |
| Arl15 |
A |
G |
13: 114,291,288 (GRCm39) |
I171V |
probably benign |
Het |
| Cacna1s |
C |
A |
1: 136,012,011 (GRCm39) |
Y237* |
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,990 (GRCm39) |
T61A |
possibly damaging |
Het |
| Col4a1 |
T |
A |
8: 11,290,077 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
T |
C |
3: 35,970,455 (GRCm39) |
E130G |
possibly damaging |
Het |
| Dnah7b |
G |
A |
1: 46,181,309 (GRCm39) |
M1065I |
probably benign |
Het |
| Ephb2 |
T |
G |
4: 136,384,795 (GRCm39) |
K872T |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,938,981 (GRCm39) |
G452D |
probably damaging |
Het |
| Flrt1 |
T |
A |
19: 7,074,277 (GRCm39) |
N90I |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,685,319 (GRCm39) |
|
probably null |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,549,000 (GRCm39) |
|
probably benign |
Het |
| Gprc5d |
G |
A |
6: 135,093,488 (GRCm39) |
Q140* |
probably null |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,476 (GRCm39) |
K237R |
unknown |
Het |
| Ipo8 |
A |
T |
6: 148,684,284 (GRCm39) |
M836K |
possibly damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Lama1 |
A |
T |
17: 68,120,943 (GRCm39) |
H2693L |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,755,889 (GRCm39) |
W40R |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,485,196 (GRCm39) |
D67G |
probably damaging |
Het |
| Morn2 |
C |
A |
17: 80,602,933 (GRCm39) |
|
probably benign |
Het |
| Ms4a6b |
T |
A |
19: 11,506,854 (GRCm39) |
N214K |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,039,892 (GRCm39) |
S527C |
probably damaging |
Het |
| Ndst1 |
C |
T |
18: 60,841,028 (GRCm39) |
G218D |
probably damaging |
Het |
| Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
| Or5b94 |
T |
A |
19: 12,651,924 (GRCm39) |
Y118* |
probably null |
Het |
| Or8h7 |
C |
T |
2: 86,720,589 (GRCm39) |
C310Y |
probably benign |
Het |
| Oxa1l |
G |
T |
14: 54,600,802 (GRCm39) |
G92* |
probably null |
Het |
| Parp16 |
A |
T |
9: 65,137,245 (GRCm39) |
E157V |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,684,984 (GRCm39) |
I484F |
probably damaging |
Het |
| Pex16 |
A |
G |
2: 92,209,580 (GRCm39) |
R263G |
probably benign |
Het |
| Pkd1l3 |
G |
A |
8: 110,356,869 (GRCm39) |
E765K |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,640,350 (GRCm39) |
V532A |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,885,609 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
T |
C |
4: 143,998,191 (GRCm39) |
T351A |
probably damaging |
Het |
| Prokr1 |
A |
T |
6: 87,565,593 (GRCm39) |
I84N |
probably damaging |
Het |
| Prss30 |
A |
T |
17: 24,192,695 (GRCm39) |
S162T |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,287,806 (GRCm39) |
K25E |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 90,866,205 (GRCm39) |
T22A |
probably damaging |
Het |
| Rhoj |
G |
T |
12: 75,355,680 (GRCm39) |
G9V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,340,169 (GRCm39) |
R3467G |
probably benign |
Het |
| Rreb1 |
C |
A |
13: 38,113,622 (GRCm39) |
S327* |
probably null |
Het |
| Scn5a |
G |
A |
9: 119,315,290 (GRCm39) |
P1806L |
probably damaging |
Het |
| Sema6a |
C |
A |
18: 47,423,042 (GRCm39) |
|
probably null |
Het |
| Stag3 |
G |
A |
5: 138,295,921 (GRCm39) |
E416K |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,256,856 (GRCm39) |
S216T |
possibly damaging |
Het |
| Tfeb |
C |
A |
17: 48,102,589 (GRCm39) |
N426K |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,087,060 (GRCm39) |
Q199K |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,877 (GRCm39) |
D2234G |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,846,194 (GRCm39) |
Q866P |
probably benign |
Het |
| Vdr |
T |
A |
15: 97,782,735 (GRCm39) |
D29V |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,853,224 (GRCm39) |
V2439A |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,342,942 (GRCm39) |
S1728P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,441,436 (GRCm39) |
S409P |
probably damaging |
Het |
|
| Other mutations in Col25a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL03135:Col25a1
|
APN |
3 |
130,323,332 (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 |
2012-04-20 |
Incidental Mutation