Incidental Mutation 'R4084:Col28a1'
| ID |
317017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
040857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4084 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 8013131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 974
(Q974*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115537
AA Change: Q974*
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: Q974*
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl2 |
A |
T |
9: 102,601,884 (GRCm39) |
|
probably null |
Het |
| Arhgdig |
T |
C |
17: 26,418,799 (GRCm39) |
D114G |
possibly damaging |
Het |
| Btnl1 |
C |
T |
17: 34,600,133 (GRCm39) |
T212I |
possibly damaging |
Het |
| Camkk1 |
C |
T |
11: 72,928,691 (GRCm39) |
T410I |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,644,444 (GRCm39) |
G362R |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,961,453 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,950,632 (GRCm39) |
I1626V |
probably benign |
Het |
| Cdon |
C |
A |
9: 35,389,427 (GRCm39) |
T844K |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,358,795 (GRCm39) |
L3428P |
probably damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,676 (GRCm39) |
N519K |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,689,248 (GRCm39) |
V457A |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,280,531 (GRCm39) |
V1009M |
possibly damaging |
Het |
| Fmnl2 |
A |
T |
2: 52,997,507 (GRCm39) |
K486I |
possibly damaging |
Het |
| Gja1 |
A |
C |
10: 56,264,607 (GRCm39) |
Q322P |
possibly damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,156 (GRCm39) |
Q189R |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,533,417 (GRCm39) |
V213A |
probably damaging |
Het |
| Herc4 |
G |
T |
10: 63,119,016 (GRCm39) |
G322V |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Htra1 |
T |
C |
7: 130,538,074 (GRCm39) |
S25P |
probably benign |
Het |
| Ifi44 |
A |
G |
3: 151,451,126 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
A |
16: 19,933,312 (GRCm39) |
S308T |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,217 (GRCm39) |
N1291S |
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,686,250 (GRCm39) |
I634N |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,056,340 (GRCm39) |
F229L |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,442,716 (GRCm39) |
S466R |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,860,232 (GRCm39) |
T22I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,343,865 (GRCm39) |
H2119R |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,920 (GRCm39) |
C634Y |
probably damaging |
Het |
| Nap1l1 |
G |
A |
10: 111,325,938 (GRCm39) |
V86I |
possibly damaging |
Het |
| Noxred1 |
A |
G |
12: 87,280,258 (GRCm39) |
Y25H |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,573,248 (GRCm39) |
L62P |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,305 (GRCm39) |
I189N |
probably damaging |
Het |
| Or2b2 |
G |
A |
13: 21,887,238 (GRCm39) |
W22* |
probably null |
Het |
| Or2b2 |
C |
A |
13: 21,887,239 (GRCm39) |
L23M |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,527 (GRCm39) |
F89V |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Pla2g4f |
C |
G |
2: 120,142,806 (GRCm39) |
Q101H |
probably benign |
Het |
| Ppp1r15b |
T |
C |
1: 133,060,805 (GRCm39) |
F441L |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 84,721,939 (GRCm39) |
P309T |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,826,386 (GRCm39) |
Y720H |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,808 (GRCm39) |
E751G |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,126 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,731,253 (GRCm39) |
S686P |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,921,860 (GRCm39) |
V240A |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,126 (GRCm39) |
I273L |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,933,137 (GRCm39) |
L107* |
probably null |
Het |
| Slc44a4 |
T |
C |
17: 35,136,323 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc6a18 |
C |
T |
13: 73,815,148 (GRCm39) |
V387I |
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,334,218 (GRCm39) |
A415T |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,802,413 (GRCm39) |
R572S |
possibly damaging |
Het |
| Tmem45a2 |
C |
T |
16: 56,891,387 (GRCm39) |
G3D |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,892,192 (GRCm39) |
T242A |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,857,871 (GRCm39) |
N1157K |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,899 (GRCm39) |
D235V |
probably benign |
Het |
| Vmn2r37 |
C |
T |
7: 9,218,984 (GRCm39) |
V467I |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,414 (GRCm39) |
E495K |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,213,098 (GRCm39) |
E161G |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,122 (GRCm39) |
N27K |
possibly damaging |
Het |
| Zfp27 |
C |
T |
7: 29,594,792 (GRCm39) |
R391H |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAGTGTGAGGAGTGAGCCAAC -3'
(R):5'- ACTTCTGCCTGCTGTGCTAG -3'
Sequencing Primer
(F):5'- CAGCTACTTACCGACTTAGACATTTC -3'
(R):5'- AAGGACAGTGCTGTTCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation