Incidental Mutation 'R1804:Col28a1'
ID |
203372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col28a1
|
Ensembl Gene |
ENSMUSG00000068794 |
Gene Name |
collagen, type XXVIII, alpha 1 |
Synonyms |
|
MMRRC Submission |
039834-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R1804 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 8164612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
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 |
|
Meta Mutation Damage Score |
0.9486 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.5%
- 20x: 89.8%
|
Validation Efficiency |
96% (77/80) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
A |
G |
1: 183,765,400 (GRCm39) |
Y220H |
probably benign |
Het |
4930579C12Rik |
T |
C |
9: 89,034,113 (GRCm39) |
|
noncoding transcript |
Het |
Abcc8 |
T |
C |
7: 45,769,903 (GRCm39) |
S871G |
probably benign |
Het |
Acly |
T |
C |
11: 100,406,731 (GRCm39) |
Y288C |
probably damaging |
Het |
Adgrb1 |
T |
A |
15: 74,401,389 (GRCm39) |
D128E |
probably damaging |
Het |
Alms1 |
C |
T |
6: 85,598,257 (GRCm39) |
Q1497* |
probably null |
Het |
Bltp2 |
A |
G |
11: 78,164,295 (GRCm39) |
H1165R |
probably damaging |
Het |
Cacna1c |
G |
A |
6: 118,664,007 (GRCm39) |
T688M |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,715,247 (GRCm39) |
L279* |
probably null |
Het |
Cep135 |
A |
G |
5: 76,784,779 (GRCm39) |
E958G |
probably benign |
Het |
Clec4n |
G |
T |
6: 123,206,981 (GRCm39) |
V2L |
possibly damaging |
Het |
Dcaf5 |
A |
G |
12: 80,386,603 (GRCm39) |
S508P |
probably benign |
Het |
Dlgap2 |
C |
A |
8: 14,777,809 (GRCm39) |
N351K |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,927,381 (GRCm39) |
Y1346N |
probably benign |
Het |
Dqx1 |
T |
C |
6: 83,037,303 (GRCm39) |
V322A |
probably damaging |
Het |
Ebf3 |
A |
C |
7: 136,802,250 (GRCm39) |
L412V |
possibly damaging |
Het |
Epha5 |
T |
C |
5: 84,479,674 (GRCm39) |
N110S |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,785,564 (GRCm39) |
C334R |
probably benign |
Het |
Glp1r |
T |
A |
17: 31,149,687 (GRCm39) |
|
probably null |
Het |
Gm4952 |
G |
T |
19: 12,595,784 (GRCm39) |
R58L |
probably damaging |
Het |
Gm7579 |
G |
A |
7: 141,765,675 (GRCm39) |
C27Y |
unknown |
Het |
Golm1 |
T |
A |
13: 59,790,203 (GRCm39) |
|
probably null |
Het |
Gucy2g |
T |
A |
19: 55,198,741 (GRCm39) |
I801F |
probably benign |
Het |
H2-D1 |
T |
C |
17: 35,482,528 (GRCm39) |
Y83H |
probably damaging |
Het |
Homez |
A |
T |
14: 55,094,598 (GRCm39) |
I19N |
probably damaging |
Het |
Hoxa5 |
T |
C |
6: 52,179,628 (GRCm39) |
K249R |
probably damaging |
Het |
Hsd17b4 |
A |
T |
18: 50,311,051 (GRCm39) |
N550Y |
probably damaging |
Het |
Ipo4 |
A |
T |
14: 55,866,913 (GRCm39) |
N668K |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klb |
A |
G |
5: 65,537,196 (GRCm39) |
D842G |
probably damaging |
Het |
Minar1 |
T |
A |
9: 89,485,152 (GRCm39) |
M82L |
possibly damaging |
Het |
Mmp21 |
G |
T |
7: 133,280,611 (GRCm39) |
P120T |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,551,589 (GRCm39) |
I918F |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,417,517 (GRCm39) |
T3488A |
possibly damaging |
Het |
Npc1 |
C |
T |
18: 12,356,145 (GRCm39) |
C42Y |
probably damaging |
Het |
Ogdh |
A |
G |
11: 6,288,565 (GRCm39) |
Y214C |
probably damaging |
Het |
Or2q1 |
G |
A |
6: 42,795,155 (GRCm39) |
C250Y |
possibly damaging |
Het |
Or4k15c |
A |
T |
14: 50,321,359 (GRCm39) |
W260R |
probably damaging |
Het |
Or4k35 |
T |
C |
2: 111,100,275 (GRCm39) |
M146V |
probably benign |
Het |
Or5al1 |
G |
T |
2: 85,990,417 (GRCm39) |
T99N |
probably benign |
Het |
Or8d23 |
A |
G |
9: 38,841,946 (GRCm39) |
T160A |
possibly damaging |
Het |
Phtf1 |
A |
G |
3: 103,894,883 (GRCm39) |
|
probably benign |
Het |
Plb1 |
A |
G |
5: 32,511,041 (GRCm39) |
N1302S |
possibly damaging |
Het |
Prex2 |
A |
G |
1: 11,202,566 (GRCm39) |
K492E |
probably damaging |
Het |
Prkaa1 |
A |
G |
15: 5,208,259 (GRCm39) |
D509G |
probably benign |
Het |
Rims2 |
C |
T |
15: 39,300,439 (GRCm39) |
Q57* |
probably null |
Het |
Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
Rraga |
A |
G |
4: 86,494,681 (GRCm39) |
I176V |
probably damaging |
Het |
Rrm2 |
T |
C |
12: 24,758,611 (GRCm39) |
I51T |
probably benign |
Het |
Serpina3a |
T |
A |
12: 104,084,675 (GRCm39) |
|
probably benign |
Het |
Skint7 |
T |
C |
4: 111,839,209 (GRCm39) |
W168R |
probably damaging |
Het |
Slc27a4 |
A |
G |
2: 29,701,279 (GRCm39) |
M357V |
probably benign |
Het |
Slc4a3 |
A |
G |
1: 75,528,361 (GRCm39) |
H452R |
probably damaging |
Het |
Smc1b |
A |
T |
15: 85,011,991 (GRCm39) |
I127K |
possibly damaging |
Het |
Snap91 |
T |
A |
9: 86,665,470 (GRCm39) |
M383L |
probably benign |
Het |
Taf6l |
A |
T |
19: 8,750,998 (GRCm39) |
L52Q |
probably damaging |
Het |
Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,732,488 (GRCm39) |
I266V |
probably benign |
Het |
Tesk2 |
T |
C |
4: 116,657,818 (GRCm39) |
|
probably benign |
Het |
Tmem131l |
T |
G |
3: 83,817,786 (GRCm39) |
Q1237P |
possibly damaging |
Het |
Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
Tnfaip8 |
T |
A |
18: 50,223,728 (GRCm39) |
C179S |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,365,926 (GRCm39) |
|
probably null |
Het |
Vps13b |
A |
T |
15: 35,917,283 (GRCm39) |
E3709V |
probably damaging |
Het |
Wdr7 |
A |
T |
18: 63,998,511 (GRCm39) |
S1153C |
probably damaging |
Het |
Zc2hc1b |
A |
C |
10: 13,047,012 (GRCm39) |
|
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,213,689 (GRCm39) |
I423T |
probably damaging |
Het |
Zfp592 |
C |
A |
7: 80,673,443 (GRCm39) |
P136T |
probably damaging |
Het |
Zfp783 |
T |
A |
6: 47,922,819 (GRCm39) |
|
noncoding transcript |
Het |
Zfp804b |
A |
T |
5: 6,821,756 (GRCm39) |
S400T |
possibly 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 |
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 |
|
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'- TCTCTGGAGTTCAGCCTCTG -3'
(R):5'- TGGGTTCACTCTTAAAGGCC -3'
Sequencing Primer
(F):5'- AGTTCAGCCTCTGAGATCATG -3'
(R):5'- AGGCCAAACTTTATCTGAGCTTCG -3'
|
Posted On |
2014-06-23 |