Incidental Mutation 'R9132:Col28a1'
| ID |
693700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
068929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R9132 (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 A
at 8014993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 804
(D804V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115537
AA Change: D804V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: D804V
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (65/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AC133488.1 |
A |
T |
16: 18,440,075 (GRCm39) |
V363E |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,901,408 (GRCm39) |
S890P |
probably benign |
Het |
| Amd1 |
A |
G |
10: 40,169,158 (GRCm39) |
|
probably null |
Het |
| Apcs |
A |
G |
1: 172,722,061 (GRCm39) |
I95T |
probably damaging |
Het |
| Arhgap18 |
A |
G |
10: 26,730,886 (GRCm39) |
D188G |
probably benign |
Het |
| Arhgap42 |
C |
T |
9: 9,011,419 (GRCm39) |
V456M |
probably damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,599,633 (GRCm39) |
Y586C |
probably damaging |
Het |
| Cbr1 |
G |
C |
16: 93,406,794 (GRCm39) |
G170A |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,270,283 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
T |
A |
18: 74,416,272 (GRCm39) |
Y2N |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,382,136 (GRCm39) |
I511T |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,443,007 (GRCm39) |
T3253A |
|
Het |
| Csta3 |
G |
A |
16: 36,038,069 (GRCm39) |
V69I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,762,317 (GRCm39) |
D443E |
probably damaging |
Het |
| Cyp7b1 |
A |
G |
3: 18,151,476 (GRCm39) |
C246R |
probably benign |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,916,930 (GRCm39) |
M592T |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 118,710,897 (GRCm39) |
I435N |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,189,436 (GRCm39) |
L1194Q |
possibly damaging |
Het |
| Firrm |
A |
G |
1: 163,814,514 (GRCm39) |
I143T |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,939,622 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gon4l |
C |
T |
3: 88,815,484 (GRCm39) |
P2016S |
probably benign |
Het |
| Hax1 |
T |
C |
3: 89,903,127 (GRCm39) |
R251G |
probably damaging |
Het |
| Hbq1b |
A |
T |
11: 32,237,228 (GRCm39) |
K41* |
probably null |
Het |
| Ido2 |
G |
A |
8: 25,023,933 (GRCm39) |
P302S |
probably damaging |
Het |
| Igf2bp2 |
G |
A |
16: 21,900,502 (GRCm39) |
T213I |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 115,014,298 (GRCm39) |
L210* |
probably null |
Het |
| Kdm1b |
G |
A |
13: 47,225,458 (GRCm39) |
S547N |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Lyz2 |
A |
T |
10: 117,116,562 (GRCm39) |
C95* |
probably null |
Het |
| Mafa |
A |
T |
15: 75,619,048 (GRCm39) |
S242T |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,300 (GRCm39) |
|
probably null |
Het |
| Mta1 |
T |
A |
12: 113,100,025 (GRCm39) |
V645E |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Naa35 |
T |
C |
13: 59,772,341 (GRCm39) |
I438T |
possibly damaging |
Het |
| Necab2 |
T |
C |
8: 120,189,303 (GRCm39) |
Y158H |
probably damaging |
Het |
| Nphp3 |
T |
A |
9: 103,897,980 (GRCm39) |
L523Q |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,290,488 (GRCm39) |
I369F |
probably benign |
Het |
| Pglyrp4 |
C |
T |
3: 90,635,238 (GRCm39) |
Q28* |
probably null |
Het |
| Pla2g4a |
C |
T |
1: 149,747,230 (GRCm39) |
V319I |
probably benign |
Het |
| Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
| Prdm6 |
C |
A |
18: 53,598,019 (GRCm39) |
A127D |
unknown |
Het |
| Prop1 |
T |
G |
11: 50,843,037 (GRCm39) |
E50A |
|
Het |
| Ripk1 |
A |
G |
13: 34,212,184 (GRCm39) |
N498S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,374,742 (GRCm39) |
N5069S |
|
Het |
| Saa3 |
T |
C |
7: 46,362,121 (GRCm39) |
D41G |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,374,385 (GRCm39) |
|
probably null |
Het |
| Shbg |
G |
A |
11: 69,506,430 (GRCm39) |
L327F |
probably benign |
Het |
| Slc12a5 |
G |
A |
2: 164,835,876 (GRCm39) |
|
probably benign |
Het |
| Slc1a4 |
C |
T |
11: 20,258,527 (GRCm39) |
G304D |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,073 (GRCm39) |
K372E |
probably benign |
Het |
| Smad2 |
T |
A |
18: 76,395,573 (GRCm39) |
I4N |
possibly damaging |
Het |
| Smad6 |
A |
C |
9: 63,914,870 (GRCm39) |
S300A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,127,896 (GRCm39) |
T1705A |
possibly damaging |
Het |
| Spem2 |
T |
A |
11: 69,707,414 (GRCm39) |
|
probably benign |
Het |
| Syde1 |
T |
C |
10: 78,425,340 (GRCm39) |
S224G |
probably benign |
Het |
| Tacc1 |
A |
T |
8: 25,672,151 (GRCm39) |
V359E |
possibly damaging |
Het |
| Tex15 |
T |
G |
8: 34,067,554 (GRCm39) |
V2328G |
possibly damaging |
Het |
| Tmem43 |
A |
C |
6: 91,459,291 (GRCm39) |
D254A |
probably benign |
Het |
| Trav6d-3 |
T |
A |
14: 52,964,210 (GRCm39) |
Y58N |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,726,362 (GRCm39) |
E437G |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,827,199 (GRCm39) |
F474L |
probably benign |
Het |
| Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
Het |
| Zfp541 |
T |
A |
7: 15,816,966 (GRCm39) |
V918D |
probably benign |
Het |
| Zfp747 |
T |
C |
7: 126,974,922 (GRCm39) |
D26G |
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 |
|
|
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'- ACTGCATGTTGTCTACCACC -3'
(R):5'- AACTCTTTCCACTTAAACAGGAGC -3'
Sequencing Primer
(F):5'- ATGTTGTCTACCACCAGCTTGAAG -3'
(R):5'- TCTTTCCACTTAAACAGGAGCAGAAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation