Incidental Mutation 'R6379:Col28a1'
| ID |
515196 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8012996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1019
(M1019V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115537
AA Change: M1019V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: M1019V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
T |
2: 152,269,912 (GRCm39) |
R21S |
probably benign |
Het |
| Aadacl4fm1 |
G |
T |
4: 144,248,912 (GRCm39) |
R93L |
probably benign |
Het |
| Adcy5 |
A |
T |
16: 35,114,369 (GRCm39) |
T991S |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,214 (GRCm39) |
|
probably null |
Het |
| Anxa1 |
T |
C |
19: 20,351,079 (GRCm39) |
*347W |
probably null |
Het |
| Aopep |
T |
A |
13: 63,216,057 (GRCm39) |
I443K |
probably damaging |
Het |
| Arid1a |
G |
T |
4: 133,408,238 (GRCm39) |
L2090I |
unknown |
Het |
| Armh3 |
A |
T |
19: 45,910,136 (GRCm39) |
V472D |
possibly damaging |
Het |
| Bambi |
T |
A |
18: 3,512,198 (GRCm39) |
L194Q |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,246,789 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,481,191 (GRCm39) |
I99F |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,269,082 (GRCm39) |
|
probably null |
Het |
| Ccdc71 |
A |
G |
9: 108,340,811 (GRCm39) |
K208R |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,492,743 (GRCm39) |
V254A |
probably benign |
Het |
| Cep295nl |
T |
A |
11: 118,224,556 (GRCm39) |
N96I |
probably benign |
Het |
| Ces1f |
C |
A |
8: 94,006,279 (GRCm39) |
C17F |
probably benign |
Het |
| Clic6 |
C |
A |
16: 92,336,423 (GRCm39) |
T577K |
probably damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,634,844 (GRCm39) |
S73Y |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 71,998,712 (GRCm39) |
L556F |
unknown |
Het |
| Dchs2 |
A |
C |
3: 83,262,453 (GRCm39) |
N2907T |
probably damaging |
Het |
| Dlgap3 |
A |
C |
4: 127,128,767 (GRCm39) |
E829A |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,935,317 (GRCm39) |
|
probably null |
Het |
| Draxin |
C |
A |
4: 148,192,400 (GRCm39) |
C304F |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,878,005 (GRCm39) |
D131G |
possibly damaging |
Het |
| Fads1 |
T |
C |
19: 10,160,551 (GRCm39) |
Y46H |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,857,017 (GRCm39) |
T2122P |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,562 (GRCm39) |
I72K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,581,468 (GRCm39) |
S174T |
probably benign |
Het |
| Foxn3 |
C |
A |
12: 99,162,537 (GRCm39) |
A455S |
probably benign |
Het |
| Fyn |
C |
T |
10: 39,331,070 (GRCm39) |
|
probably benign |
Het |
| Gtse1 |
G |
A |
15: 85,748,425 (GRCm39) |
G277S |
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,588 (GRCm39) |
V99E |
probably benign |
Het |
| Icam4 |
C |
A |
9: 20,941,078 (GRCm39) |
A110E |
probably damaging |
Het |
| Itih3 |
G |
A |
14: 30,631,681 (GRCm39) |
S802L |
probably damaging |
Het |
| Kcng4 |
T |
A |
8: 120,360,359 (GRCm39) |
R6* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,564,339 (GRCm39) |
C977S |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,960,675 (GRCm39) |
M362L |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,008 (GRCm39) |
I267T |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,520,156 (GRCm39) |
V275A |
probably damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,280 (GRCm39) |
Q1308* |
probably null |
Het |
| Nop9 |
T |
C |
14: 55,983,249 (GRCm39) |
S7P |
possibly damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,987,438 (GRCm39) |
N25K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,490,252 (GRCm39) |
L227P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 33,373,749 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,532,753 (GRCm39) |
C571* |
probably null |
Het |
| Nynrin |
T |
C |
14: 56,107,848 (GRCm39) |
L985P |
probably damaging |
Het |
| Obsl1 |
A |
C |
1: 75,479,787 (GRCm39) |
L341R |
probably damaging |
Het |
| Or1r1 |
T |
G |
11: 73,875,099 (GRCm39) |
S112R |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,381 (GRCm39) |
|
probably benign |
Het |
| Phip |
G |
T |
9: 82,795,910 (GRCm39) |
N570K |
probably damaging |
Het |
| Pigx |
A |
T |
16: 31,903,341 (GRCm39) |
I240N |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,854,051 (GRCm39) |
D37G |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,915,555 (GRCm39) |
M639K |
probably benign |
Het |
| Scnn1b |
T |
G |
7: 121,514,551 (GRCm39) |
M441R |
probably benign |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,143 (GRCm39) |
M121K |
probably damaging |
Het |
| Slc30a4 |
A |
T |
2: 122,531,469 (GRCm39) |
V132D |
probably damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,575,155 (GRCm39) |
S42P |
probably benign |
Het |
| Slc66a1 |
G |
A |
4: 139,027,296 (GRCm39) |
L349F |
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,156,227 (GRCm39) |
C172R |
probably damaging |
Het |
| Suz12 |
A |
T |
11: 79,906,014 (GRCm39) |
D292V |
possibly damaging |
Het |
| Sv2b |
A |
T |
7: 74,786,048 (GRCm39) |
D457E |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,773 (GRCm39) |
V285A |
probably benign |
Het |
| Tdo2 |
T |
A |
3: 81,866,102 (GRCm39) |
|
probably benign |
Het |
| Them7 |
G |
T |
2: 105,115,031 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,660,979 (GRCm39) |
T158A |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,513,942 (GRCm39) |
R1209H |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,298 (GRCm39) |
L838* |
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,848,942 (GRCm39) |
I63V |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,814,828 (GRCm39) |
N90K |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,077,574 (GRCm39) |
S1433F |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,275,141 (GRCm39) |
D158G |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,311,795 (GRCm39) |
T300S |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,513,085 (GRCm39) |
D23E |
probably benign |
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 |
|
IGL03062:Col28a1
|
APN |
6 |
8,017,029 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCATGTTATAAGTTCCAGGGC -3'
(R):5'- ACAGTGCTGTTCTCCTTAAAGAGG -3'
Sequencing Primer
(F):5'- CATGTTATAAGTTCCAGGGCTATTTC -3'
(R):5'- GAGTAAAGTTTCTCTGCTTTCACTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation