Incidental Mutation 'R1906:Col28a1'
| ID |
214365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
039925-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1906 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7999644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1024
(N1024K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115537
AA Change: N1024K
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: N1024K
| 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: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,072,984 (GRCm39) |
T923I |
probably benign |
Het |
| Abhd13 |
T |
A |
8: 10,038,170 (GRCm39) |
C256S |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,665,573 (GRCm39) |
W576* |
probably null |
Het |
| Adnp |
A |
T |
2: 168,024,287 (GRCm39) |
S1003T |
probably benign |
Het |
| AI987944 |
C |
T |
7: 41,024,550 (GRCm39) |
R146Q |
probably benign |
Het |
| Apol6 |
G |
T |
15: 76,935,060 (GRCm39) |
V110F |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,223,751 (GRCm39) |
F651L |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,417,868 (GRCm39) |
D813G |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,641,979 (GRCm39) |
I752N |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,607 (GRCm39) |
F75S |
probably benign |
Het |
| Col20a1 |
G |
A |
2: 180,640,490 (GRCm39) |
R549H |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,878,048 (GRCm39) |
V2654D |
probably damaging |
Het |
| Dnph1 |
A |
T |
17: 46,807,787 (GRCm39) |
I18F |
probably damaging |
Het |
| Dsn1 |
G |
A |
2: 156,838,163 (GRCm39) |
R334W |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,518,873 (GRCm39) |
K325N |
probably benign |
Het |
| Eps15 |
T |
G |
4: 109,181,398 (GRCm39) |
S311A |
possibly damaging |
Het |
| Fmo3 |
G |
T |
1: 162,794,475 (GRCm39) |
D198E |
probably damaging |
Het |
| Folh1 |
C |
G |
7: 86,391,374 (GRCm39) |
|
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
| Gm10604 |
T |
G |
4: 11,979,989 (GRCm39) |
D105A |
unknown |
Het |
| Gpx8 |
A |
G |
13: 113,182,110 (GRCm39) |
C108R |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,764,612 (GRCm39) |
I1013L |
probably benign |
Het |
| Hyal4 |
T |
G |
6: 24,756,110 (GRCm39) |
N109K |
probably damaging |
Het |
| Il22ra1 |
T |
G |
4: 135,478,544 (GRCm39) |
C538W |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,453,868 (GRCm39) |
|
probably null |
Het |
| Krt75 |
T |
A |
15: 101,481,801 (GRCm39) |
T156S |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,932,523 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,217,612 (GRCm39) |
V847L |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,831,309 (GRCm39) |
I185N |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
| Ms4a15 |
T |
C |
19: 10,960,644 (GRCm39) |
I94V |
probably benign |
Het |
| Mycbpap |
A |
T |
11: 94,396,447 (GRCm39) |
M131K |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,240,211 (GRCm39) |
M920K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,198,538 (GRCm39) |
Y437H |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,125 (GRCm39) |
W223R |
probably damaging |
Het |
| Or10ak11 |
G |
A |
4: 118,687,467 (GRCm39) |
H56Y |
probably damaging |
Het |
| Or10x4 |
C |
A |
1: 174,218,730 (GRCm39) |
L32M |
probably damaging |
Het |
| Or4c114 |
A |
G |
2: 88,905,414 (GRCm39) |
V7A |
possibly damaging |
Het |
| Or6c6c |
T |
G |
10: 129,541,365 (GRCm39) |
V206G |
probably benign |
Het |
| Polg |
T |
C |
7: 79,110,070 (GRCm39) |
K353E |
probably damaging |
Het |
| Proz |
C |
G |
8: 13,123,686 (GRCm39) |
|
probably null |
Het |
| Pus7 |
T |
C |
5: 23,983,209 (GRCm39) |
D86G |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,673 (GRCm39) |
V386A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,054 (GRCm39) |
K846R |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,090,856 (GRCm39) |
|
probably null |
Het |
| Srp68 |
A |
T |
11: 116,141,587 (GRCm39) |
I424N |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,908 (GRCm39) |
E1055G |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,955,159 (GRCm39) |
I571V |
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,365,947 (GRCm39) |
L705P |
probably damaging |
Het |
| Tom1 |
T |
C |
8: 75,778,218 (GRCm39) |
V100A |
probably damaging |
Het |
| Tox3 |
A |
G |
8: 90,975,057 (GRCm39) |
|
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,344 (GRCm39) |
N781S |
probably damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,327,547 (GRCm39) |
V343E |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,979,047 (GRCm39) |
Y467H |
probably damaging |
Het |
| Zbtb46 |
G |
A |
2: 181,065,632 (GRCm39) |
R173W |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,821,720 (GRCm39) |
D20G |
probably benign |
Het |
| Zfp777 |
A |
C |
6: 48,018,995 (GRCm39) |
M313R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGTCGCTTACCTTTGTACAGAG -3'
(R):5'- CCAAGAAATCCGTTGACATCG -3'
Sequencing Primer
(F):5'- CCTTTGTACAGAGATTTTTCTGACTG -3'
(R):5'- TGTGTGTCTTATATGAATGCTGTATG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation