Incidental Mutation 'R6046:Col28a1'
| ID |
506186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
044214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 8168102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
[ENSMUST00000213284]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115537
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
| 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 |
probably benign
Transcript: ENSMUST00000213284
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (78/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,223,947 (GRCm39) |
V252A |
unknown |
Het |
| Actn4 |
T |
C |
7: 28,604,044 (GRCm39) |
I406V |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,606,114 (GRCm39) |
F1124I |
probably damaging |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atp9a |
C |
A |
2: 168,476,790 (GRCm39) |
V1000L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,511,033 (GRCm39) |
|
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,727,371 (GRCm39) |
R386S |
probably damaging |
Het |
| Calcrl |
A |
G |
2: 84,205,658 (GRCm39) |
V11A |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,863,571 (GRCm39) |
A597D |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,350 (GRCm39) |
T1960A |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,081,078 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,458,528 (GRCm39) |
I860T |
possibly damaging |
Het |
| Crhr2 |
T |
A |
6: 55,068,277 (GRCm39) |
T428S |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,819,388 (GRCm39) |
I1753F |
probably damaging |
Het |
| Ctsq |
A |
T |
13: 61,186,955 (GRCm39) |
V46E |
probably benign |
Het |
| Cxcr1 |
T |
C |
1: 74,231,440 (GRCm39) |
E194G |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,397,396 (GRCm39) |
H900L |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 119,225,224 (GRCm39) |
M999K |
probably benign |
Het |
| Gbp3 |
A |
C |
3: 142,273,560 (GRCm39) |
D369A |
possibly damaging |
Het |
| Glmp |
A |
G |
3: 88,232,495 (GRCm39) |
E36G |
probably damaging |
Het |
| Gm10113 |
T |
C |
13: 46,330,919 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6486 |
T |
A |
5: 3,120,846 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
G |
1: 59,671,509 (GRCm39) |
L891R |
unknown |
Het |
| Heatr3 |
C |
T |
8: 88,866,582 (GRCm39) |
T8M |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,831 (GRCm39) |
M2106V |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,509 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
A |
G |
2: 3,490,801 (GRCm39) |
V462A |
possibly damaging |
Het |
| Hspa5 |
C |
A |
2: 34,665,761 (GRCm39) |
T535K |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,274,563 (GRCm39) |
D745G |
probably benign |
Het |
| Ift27 |
A |
T |
15: 78,057,981 (GRCm39) |
C8S |
possibly damaging |
Het |
| Irak1bp1 |
G |
A |
9: 82,728,616 (GRCm39) |
W182* |
probably null |
Het |
| Itga3 |
A |
G |
11: 94,953,541 (GRCm39) |
I236T |
probably benign |
Het |
| Kctd15 |
T |
A |
7: 34,349,547 (GRCm39) |
N26Y |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,232,729 (GRCm39) |
V733A |
possibly damaging |
Het |
| Lhx8 |
A |
T |
3: 154,027,340 (GRCm39) |
L234H |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,337,098 (GRCm39) |
T1225S |
probably damaging |
Het |
| Lrrn1 |
G |
A |
6: 107,545,488 (GRCm39) |
D429N |
probably benign |
Het |
| Mettl3 |
A |
T |
14: 52,536,243 (GRCm39) |
N200K |
possibly damaging |
Het |
| Mixl1 |
G |
T |
1: 180,524,336 (GRCm39) |
A81D |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,980,763 (GRCm39) |
I1444T |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,561,786 (GRCm39) |
L74* |
probably null |
Het |
| Olfm2 |
T |
A |
9: 20,579,824 (GRCm39) |
Y317F |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,886 (GRCm39) |
V154M |
probably benign |
Het |
| Or5b114-ps1 |
G |
A |
19: 13,352,698 (GRCm39) |
S124N |
probably benign |
Het |
| Or5p54 |
T |
A |
7: 107,554,001 (GRCm39) |
I51N |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,763,302 (GRCm39) |
Y3925F |
unknown |
Het |
| Pik3c2g |
A |
T |
6: 139,599,137 (GRCm39) |
R84S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,842,518 (GRCm39) |
Q449R |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,160,305 (GRCm39) |
E297G |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,832 (GRCm39) |
|
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,130,386 (GRCm39) |
I363T |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,543 (GRCm39) |
D345G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,658,023 (GRCm39) |
F726I |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,893,507 (GRCm39) |
I330N |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,391,440 (GRCm39) |
D84G |
probably damaging |
Het |
| Sema4a |
T |
C |
3: 88,348,008 (GRCm39) |
T438A |
probably damaging |
Het |
| Sfxn1 |
A |
C |
13: 54,242,961 (GRCm39) |
Y73S |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 86,914,882 (GRCm39) |
M585T |
probably damaging |
Het |
| Slc26a7 |
A |
G |
4: 14,505,471 (GRCm39) |
V656A |
probably benign |
Het |
| Smok2a |
T |
G |
17: 13,445,021 (GRCm39) |
D199E |
probably benign |
Het |
| Tbc1d10c |
T |
C |
19: 4,235,030 (GRCm39) |
I344V |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,506,925 (GRCm39) |
Y605* |
probably null |
Het |
| Trim75 |
G |
A |
8: 65,435,535 (GRCm39) |
P305L |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,166 (GRCm39) |
N895S |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,876 (GRCm39) |
I822N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,407,166 (GRCm39) |
D495E |
unknown |
Het |
| Wdhd1 |
T |
A |
14: 47,510,667 (GRCm39) |
K119* |
probably null |
Het |
| Wnt2b |
T |
A |
3: 104,858,339 (GRCm39) |
D310V |
probably damaging |
Het |
| Zfat |
G |
T |
15: 68,052,626 (GRCm39) |
D389E |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,102 (GRCm39) |
V112M |
probably damaging |
Het |
| Zfp617 |
A |
T |
8: 72,687,257 (GRCm39) |
K529I |
probably damaging |
Het |
| Zfp866 |
A |
T |
8: 70,218,373 (GRCm39) |
C416S |
probably damaging |
Het |
| Zfp991 |
G |
A |
4: 147,264,222 (GRCm39) |
G533D |
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 |
|
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'- TGCATCACTGGACTGCTGAG -3'
(R):5'- AATTTCCTTCAAGAGAGTTTCAGTC -3'
Sequencing Primer
(F):5'- ACGCAGCTTCCAGAATGG -3'
(R):5'- CCTTCAAGAGAGTTTCAGTCAGTTAC -3'
|
| Posted On |
2018-03-08 |
Incidental Mutation