Incidental Mutation 'IGL03062:Col28a1'
| ID |
409524 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL03062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 8017029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115537
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
46 |
225 |
8.08e-18 |
SMART |
|
low complexity region
|
245 |
260 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
261 |
304 |
1.56e-15 |
PROSPERO |
|
low complexity region
|
306 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
479 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
481 |
531 |
4.11e-8 |
PROSPERO |
|
Pfam:Collagen
|
534 |
591 |
1.5e-8 |
PFAM |
|
low complexity region
|
640 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
684 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
690 |
739 |
4.11e-8 |
PROSPERO |
|
internal_repeat_1
|
711 |
763 |
1.56e-15 |
PROSPERO |
|
internal_repeat_5
|
713 |
769 |
4.35e-6 |
PROSPERO |
|
low complexity region
|
771 |
789 |
N/A |
INTRINSIC |
|
VWA
|
796 |
973 |
1.57e-38 |
SMART |
|
KU
|
1086 |
1139 |
8.16e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134731
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
| Arhgap17 |
C |
T |
7: 122,921,097 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
| Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
| Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
| Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
| Klc3 |
C |
A |
7: 19,128,987 (GRCm39) |
G461W |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
| Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,504 (GRCm39) |
V127A |
probably benign |
Het |
| Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
| Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,322 (GRCm39) |
Y179H |
probably damaging |
Het |
| Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
| Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
| Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
| Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
| Pou5f1 |
A |
T |
17: 35,820,936 (GRCm39) |
N126I |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
| Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,144,951 (GRCm39) |
E1135V |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,206 (GRCm39) |
D42G |
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
| Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
| Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably damaging |
Het |
|
| Other mutations in Col28a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Col28a1
|
APN |
6 |
8,014,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00329:Col28a1
|
APN |
6 |
8,175,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00466:Col28a1
|
APN |
6 |
8,022,081 (GRCm39) |
splice site |
probably benign |
|
|
IGL00544:Col28a1
|
APN |
6 |
8,162,228 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00979:Col28a1
|
APN |
6 |
8,014,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01475:Col28a1
|
APN |
6 |
8,103,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01570:Col28a1
|
APN |
6 |
8,014,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01688:Col28a1
|
APN |
6 |
7,998,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01734:Col28a1
|
APN |
6 |
8,158,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01911:Col28a1
|
APN |
6 |
8,014,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01922:Col28a1
|
APN |
6 |
8,158,133 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02567:Col28a1
|
APN |
6 |
8,014,819 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02641:Col28a1
|
APN |
6 |
8,014,794 (GRCm39) |
nonsense |
probably null |
|
|
IGL02893:Col28a1
|
APN |
6 |
8,103,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03273:Col28a1
|
APN |
6 |
8,103,484 (GRCm39) |
splice site |
probably benign |
|
|
P0043:Col28a1
|
UTSW |
6 |
8,168,152 (GRCm39) |
unclassified |
probably benign |
|
|
R0034:Col28a1
|
UTSW |
6 |
8,175,708 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0543:Col28a1
|
UTSW |
6 |
8,075,326 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Col28a1
|
UTSW |
6 |
8,175,291 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0726:Col28a1
|
UTSW |
6 |
8,014,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1013:Col28a1
|
UTSW |
6 |
7,999,452 (GRCm39) |
splice site |
probably benign |
|
|
R1054:Col28a1
|
UTSW |
6 |
8,175,534 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1671:Col28a1
|
UTSW |
6 |
8,083,773 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1804:Col28a1
|
UTSW |
6 |
8,164,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1853:Col28a1
|
UTSW |
6 |
8,014,574 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1906:Col28a1
|
UTSW |
6 |
7,999,644 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1914:Col28a1
|
UTSW |
6 |
8,176,333 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1915:Col28a1
|
UTSW |
6 |
8,176,333 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1954:Col28a1
|
UTSW |
6 |
7,998,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Col28a1
|
UTSW |
6 |
7,999,644 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2011:Col28a1
|
UTSW |
6 |
8,059,360 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2023:Col28a1
|
UTSW |
6 |
8,083,783 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2149:Col28a1
|
UTSW |
6 |
8,155,383 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2285:Col28a1
|
UTSW |
6 |
8,097,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2403:Col28a1
|
UTSW |
6 |
8,175,641 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3615:Col28a1
|
UTSW |
6 |
8,014,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3616:Col28a1
|
UTSW |
6 |
8,014,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Col28a1
|
UTSW |
6 |
8,014,601 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4042:Col28a1
|
UTSW |
6 |
8,014,678 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4084:Col28a1
|
UTSW |
6 |
8,013,132 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4084:Col28a1
|
UTSW |
6 |
8,013,131 (GRCm39) |
nonsense |
probably null |
|
|
R4417:Col28a1
|
UTSW |
6 |
8,175,666 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4838:Col28a1
|
UTSW |
6 |
8,014,559 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5752:Col28a1
|
UTSW |
6 |
8,015,025 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5807:Col28a1
|
UTSW |
6 |
8,158,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6038:Col28a1
|
UTSW |
6 |
8,013,140 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6038:Col28a1
|
UTSW |
6 |
8,013,140 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6046:Col28a1
|
UTSW |
6 |
8,168,102 (GRCm39) |
splice site |
probably null |
|
|
R6054:Col28a1
|
UTSW |
6 |
8,083,748 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6159:Col28a1
|
UTSW |
6 |
8,162,247 (GRCm39) |
splice site |
probably null |
|
|
R6306:Col28a1
|
UTSW |
6 |
8,014,969 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6379:Col28a1
|
UTSW |
6 |
8,012,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6665:Col28a1
|
UTSW |
6 |
8,062,277 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6809:Col28a1
|
UTSW |
6 |
7,999,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7023:Col28a1
|
UTSW |
6 |
8,083,763 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7101:Col28a1
|
UTSW |
6 |
8,014,795 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7117:Col28a1
|
UTSW |
6 |
8,013,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7375:Col28a1
|
UTSW |
6 |
7,998,499 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8236:Col28a1
|
UTSW |
6 |
8,097,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8272:Col28a1
|
UTSW |
6 |
8,154,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8559:Col28a1
|
UTSW |
6 |
8,166,681 (GRCm39) |
missense |
unknown |
|
|
R8712:Col28a1
|
UTSW |
6 |
8,013,133 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8782:Col28a1
|
UTSW |
6 |
8,175,227 (GRCm39) |
missense |
unknown |
|
|
R8838:Col28a1
|
UTSW |
6 |
8,091,839 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8885:Col28a1
|
UTSW |
6 |
8,127,360 (GRCm39) |
splice site |
probably benign |
|
|
R9132:Col28a1
|
UTSW |
6 |
8,014,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9153:Col28a1
|
UTSW |
6 |
8,022,765 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9159:Col28a1
|
UTSW |
6 |
8,014,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Col28a1
|
UTSW |
6 |
8,175,414 (GRCm39) |
missense |
unknown |
|
|
R9327:Col28a1
|
UTSW |
6 |
8,175,653 (GRCm39) |
missense |
unknown |
|
|
R9423:Col28a1
|
UTSW |
6 |
7,999,601 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Col28a1
|
UTSW |
6 |
8,175,630 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col28a1
|
UTSW |
6 |
8,127,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Col28a1
|
UTSW |
6 |
8,062,283 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2016-08-02 |
Incidental Mutation