Incidental Mutation 'R7101:Col28a1'
| ID |
550812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
045193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7101 (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 A
at 8014795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 870
(Y870F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115537
AA Change: Y870F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: Y870F
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,438 (GRCm39) |
D568G |
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,386,965 (GRCm39) |
I130V |
probably benign |
Het |
| Ankrd11 |
G |
T |
8: 123,622,194 (GRCm39) |
Q553K |
probably benign |
Het |
| Ankrd42 |
A |
T |
7: 92,280,752 (GRCm39) |
H59Q |
possibly damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,218,249 (GRCm39) |
R318C |
probably damaging |
Het |
| Arrdc5 |
G |
A |
17: 56,601,522 (GRCm39) |
T201M |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,459,132 (GRCm39) |
S377P |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,957,056 (GRCm39) |
F936S |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,766,483 (GRCm39) |
D913G |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,961,082 (GRCm39) |
M21L |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,587,401 (GRCm39) |
H132R |
probably benign |
Het |
| Ccdc154 |
A |
G |
17: 25,382,442 (GRCm39) |
H88R |
probably benign |
Het |
| Cfap20dc |
G |
T |
14: 8,511,171 (GRCm38) |
S414R |
possibly damaging |
Het |
| Clic5 |
G |
T |
17: 44,586,179 (GRCm39) |
A223S |
probably benign |
Het |
| Dhx37 |
G |
A |
5: 125,502,006 (GRCm39) |
Q497* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,031,880 (GRCm39) |
T1763A |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,042,221 (GRCm39) |
R2005G |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,389,722 (GRCm39) |
G541S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Ephb3 |
C |
T |
16: 21,037,268 (GRCm39) |
H455Y |
possibly damaging |
Het |
| Eri1 |
A |
C |
8: 35,949,777 (GRCm39) |
C127G |
probably damaging |
Het |
| Faf1 |
A |
T |
4: 109,783,153 (GRCm39) |
E548D |
probably benign |
Het |
| Gm3285 |
C |
A |
10: 77,698,194 (GRCm39) |
C114* |
probably null |
Het |
| Gm9736 |
C |
T |
10: 77,587,167 (GRCm39) |
V8I |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,174 (GRCm39) |
M1154L |
probably benign |
Het |
| Grin1 |
G |
A |
2: 25,186,647 (GRCm39) |
T770M |
probably damaging |
Het |
| Haus1 |
A |
G |
18: 77,854,570 (GRCm39) |
S67P |
possibly damaging |
Het |
| Homer1 |
C |
A |
13: 93,492,562 (GRCm39) |
Q184K |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,723,680 (GRCm39) |
T401A |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,631,907 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,212,038 (GRCm39) |
D612V |
probably damaging |
Het |
| Ltbr |
C |
G |
6: 125,289,763 (GRCm39) |
E144Q |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,063,579 (GRCm39) |
R961L |
possibly damaging |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Myo1b |
G |
T |
1: 51,797,160 (GRCm39) |
Q961K |
probably benign |
Het |
| Myo1h |
C |
A |
5: 114,480,258 (GRCm39) |
T531N |
|
Het |
| Ngly1 |
G |
A |
14: 16,283,445 (GRCm38) |
R408Q |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,632,966 (GRCm39) |
E1055G |
possibly damaging |
Het |
| Nutm2 |
A |
G |
13: 50,626,934 (GRCm39) |
K363R |
probably benign |
Het |
| Obox8 |
A |
T |
7: 14,066,752 (GRCm39) |
Y97* |
probably null |
Het |
| Odc1 |
A |
G |
12: 17,597,319 (GRCm39) |
D7G |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,558 (GRCm39) |
T182I |
unknown |
Het |
| Or2t49 |
A |
G |
11: 58,393,379 (GRCm39) |
M7T |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,844,324 (GRCm39) |
V28E |
possibly damaging |
Het |
| Or8b12b |
T |
C |
9: 37,684,287 (GRCm39) |
S111P |
probably damaging |
Het |
| Or8b46 |
G |
A |
9: 38,450,966 (GRCm39) |
M258I |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,827,430 (GRCm39) |
D188G |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,122,922 (GRCm39) |
E400G |
probably benign |
Het |
| Phlpp1 |
G |
A |
1: 106,100,397 (GRCm39) |
V222M |
possibly damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,683 (GRCm39) |
V536A |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,223,833 (GRCm39) |
V719A |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,381,226 (GRCm39) |
A242V |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,771 (GRCm39) |
L908P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,117,005 (GRCm39) |
N2146D |
possibly damaging |
Het |
| Rtkn |
T |
C |
6: 83,126,993 (GRCm39) |
V333A |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,825,442 (GRCm39) |
Y196H |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,828,784 (GRCm39) |
T75A |
probably benign |
Het |
| Slc35a4 |
T |
A |
18: 36,814,591 (GRCm39) |
L42H |
probably damaging |
Het |
| Svs3a |
A |
T |
2: 164,131,933 (GRCm39) |
D168V |
probably damaging |
Het |
| Themis |
T |
A |
10: 28,637,422 (GRCm39) |
Y175* |
probably null |
Het |
| Tspan33 |
G |
T |
6: 29,716,783 (GRCm39) |
R180L |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,232,958 (GRCm39) |
S145F |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,810,878 (GRCm39) |
T102I |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,376,183 (GRCm39) |
V1908E |
|
Het |
| Vmn2r101 |
A |
G |
17: 19,809,350 (GRCm39) |
I160V |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,358 (GRCm39) |
C638S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,682,777 (GRCm39) |
R3136Q |
|
Het |
| Zan |
C |
A |
5: 137,396,552 (GRCm39) |
A4335S |
unknown |
Het |
| Zfp180 |
G |
T |
7: 23,803,958 (GRCm39) |
V126F |
probably benign |
Het |
| Zfp429 |
T |
A |
13: 67,538,931 (GRCm39) |
D171V |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,931,708 (GRCm39) |
I798T |
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 |
|
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 |
|
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'- AAGTTGGGGTCATCCTTCTTCAC -3'
(R):5'- AGTGTGGGACCAGAGAACTTTC -3'
Sequencing Primer
(F):5'- CCAATGACAAATATTTCCACGTTGG -3'
(R):5'- TGGGACCAGAGAACTTTCAGATCATC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation