Incidental Mutation 'R9327:Col28a1'
ID |
706569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col28a1
|
Ensembl Gene |
ENSMUSG00000068794 |
Gene Name |
collagen, type XXVIII, alpha 1 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R9327 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8175653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
[ENSMUST00000213284]
|
AlphaFold |
Q2UY11 |
Predicted Effect |
unknown
Transcript: ENSMUST00000115537
AA Change: D65G
|
SMART Domains |
Protein: ENSMUSP00000111199 Gene: ENSMUSG00000068794 AA Change: D65G
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 |
unknown
Transcript: ENSMUST00000213284
AA Change: D65G
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (57/57) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,895,499 (GRCm39) |
M194K |
probably benign |
Het |
Abcg1 |
T |
C |
17: 31,333,122 (GRCm39) |
S622P |
probably benign |
Het |
Ahnak2 |
A |
T |
12: 112,748,446 (GRCm39) |
V467E |
|
Het |
Amdhd2 |
T |
C |
17: 24,377,421 (GRCm39) |
E164G |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,812,086 (GRCm39) |
|
probably null |
Het |
Bank1 |
A |
T |
3: 135,799,308 (GRCm39) |
N545K |
probably benign |
Het |
C9orf72 |
A |
G |
4: 35,205,883 (GRCm39) |
I247T |
|
Het |
Cep63 |
T |
C |
9: 102,467,723 (GRCm39) |
I548V |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,453,710 (GRCm39) |
Q58K |
|
Het |
Cyp2c50 |
A |
G |
19: 40,079,010 (GRCm39) |
N118D |
probably benign |
Het |
Dock10 |
C |
T |
1: 80,510,184 (GRCm39) |
C1549Y |
probably damaging |
Het |
Epg5 |
A |
G |
18: 77,991,435 (GRCm39) |
E44G |
probably benign |
Het |
Ephb4 |
T |
C |
5: 137,361,529 (GRCm39) |
S520P |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,993,755 (GRCm39) |
E1042G |
probably benign |
Het |
Fmod |
A |
T |
1: 133,968,589 (GRCm39) |
N210Y |
probably damaging |
Het |
Fpr3 |
A |
G |
17: 18,191,713 (GRCm39) |
D328G |
probably damaging |
Het |
Garem2 |
T |
G |
5: 30,321,989 (GRCm39) |
C783G |
probably benign |
Het |
Gm10542 |
A |
G |
18: 44,337,689 (GRCm39) |
N56D |
probably damaging |
Het |
Gm20939 |
T |
A |
17: 95,184,424 (GRCm39) |
N357K |
probably benign |
Het |
Hr |
A |
G |
14: 70,805,228 (GRCm39) |
H990R |
possibly damaging |
Het |
Il21r |
A |
G |
7: 125,226,163 (GRCm39) |
N53S |
unknown |
Het |
Insrr |
C |
T |
3: 87,721,604 (GRCm39) |
T1170I |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,638,034 (GRCm39) |
M103V |
probably damaging |
Het |
Izumo3 |
G |
T |
4: 92,035,050 (GRCm39) |
Q56K |
probably damaging |
Het |
Kcnh8 |
T |
C |
17: 53,146,084 (GRCm39) |
V324A |
probably damaging |
Het |
Kcnj2 |
T |
A |
11: 110,963,719 (GRCm39) |
N370K |
probably benign |
Het |
Klf16 |
G |
T |
10: 80,412,688 (GRCm39) |
S116* |
probably null |
Het |
Mettl16 |
T |
C |
11: 74,696,089 (GRCm39) |
V310A |
probably benign |
Het |
Misp3 |
G |
T |
8: 84,737,080 (GRCm39) |
Q105K |
unknown |
Het |
Mmrn2 |
G |
A |
14: 34,097,473 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
A |
G |
17: 66,645,130 (GRCm39) |
L1888P |
probably damaging |
Het |
Muc5ac |
A |
C |
7: 141,365,429 (GRCm39) |
T1984P |
possibly damaging |
Het |
Myo16 |
G |
T |
8: 10,489,705 (GRCm39) |
|
probably null |
Het |
Nckipsd |
T |
C |
9: 108,691,699 (GRCm39) |
I466T |
possibly damaging |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Npffr2 |
A |
G |
5: 89,730,661 (GRCm39) |
H197R |
probably benign |
Het |
Nrap |
T |
A |
19: 56,340,100 (GRCm39) |
M842L |
probably benign |
Het |
Nxpe4 |
G |
A |
9: 48,309,984 (GRCm39) |
A416T |
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Or51t4 |
T |
C |
7: 102,597,687 (GRCm39) |
V5A |
probably benign |
Het |
Or52n20 |
A |
G |
7: 104,320,742 (GRCm39) |
I278V |
probably damaging |
Het |
Or5p53 |
T |
A |
7: 107,533,019 (GRCm39) |
C97* |
probably null |
Het |
Ppp1r15a |
C |
T |
7: 45,174,035 (GRCm39) |
A258T |
possibly damaging |
Het |
Prss36 |
A |
T |
7: 127,532,570 (GRCm39) |
Y760* |
probably null |
Het |
Psg26 |
T |
A |
7: 18,216,480 (GRCm39) |
T120S |
probably damaging |
Het |
Ptk7 |
A |
T |
17: 46,878,977 (GRCm39) |
L908Q |
probably benign |
Het |
S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
Slc25a44 |
A |
T |
3: 88,328,025 (GRCm39) |
H155Q |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,321,486 (GRCm39) |
T894A |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,574,149 (GRCm39) |
F39L |
probably damaging |
Het |
Tmem181a |
G |
A |
17: 6,346,048 (GRCm39) |
V181M |
possibly damaging |
Het |
Tmt1b |
A |
G |
10: 128,794,607 (GRCm39) |
M239T |
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,896,004 (GRCm39) |
V947A |
possibly damaging |
Het |
Txndc16 |
G |
A |
14: 45,379,448 (GRCm39) |
T663I |
probably benign |
Het |
Vmn2r45 |
T |
C |
7: 8,474,532 (GRCm39) |
Y832C |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,996,841 (GRCm39) |
T143A |
probably damaging |
Het |
Vps26b |
T |
C |
9: 26,930,750 (GRCm39) |
N82D |
probably benign |
Het |
Zfp318 |
T |
G |
17: 46,721,892 (GRCm39) |
F1298L |
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 |
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 |
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 |
|
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'- CTTGACCCGCTGCTTAAATG -3'
(R):5'- CTATTCCTATGATGAATGCAGACAC -3'
Sequencing Primer
(F):5'- GCTGCTTAAATGTCCGGAGATCC -3'
(R):5'- TGCAGACACATTTTCTCATTTGG -3'
|
Posted On |
2022-04-18 |