Incidental Mutation 'R6159:Col28a1'
ID |
501889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col28a1
|
Ensembl Gene |
ENSMUSG00000068794 |
Gene Name |
collagen, type XXVIII, alpha 1 |
Synonyms |
|
MMRRC Submission |
044306-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6159 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 8162247 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (54/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl2 |
A |
C |
6: 29,908,457 (GRCm39) |
N609T |
possibly damaging |
Het |
Ankzf1 |
G |
A |
1: 75,170,888 (GRCm39) |
C98Y |
probably damaging |
Het |
Atg101 |
T |
A |
15: 101,188,519 (GRCm39) |
M208K |
possibly damaging |
Het |
Baiap2l2 |
A |
G |
15: 79,143,930 (GRCm39) |
I388T |
probably benign |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Chrnd |
T |
A |
1: 87,118,812 (GRCm39) |
D56E |
probably benign |
Het |
Col4a1 |
G |
T |
8: 11,270,007 (GRCm39) |
P899Q |
probably damaging |
Het |
Cts3 |
C |
A |
13: 61,714,655 (GRCm39) |
A217S |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,465,941 (GRCm39) |
N495S |
possibly damaging |
Het |
Dnah2 |
T |
A |
11: 69,349,368 (GRCm39) |
I2423F |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock6 |
T |
C |
9: 21,733,041 (GRCm39) |
H1053R |
probably benign |
Het |
Eif1ad14 |
G |
A |
12: 87,886,521 (GRCm39) |
A36V |
probably damaging |
Het |
Fam184a |
G |
A |
10: 53,574,869 (GRCm39) |
L191F |
probably damaging |
Het |
Fbxl9 |
T |
C |
8: 106,049,925 (GRCm39) |
Y33C |
probably damaging |
Het |
Fip1l1 |
C |
T |
5: 74,752,608 (GRCm39) |
R472W |
probably damaging |
Het |
Gbp2 |
T |
C |
3: 142,338,018 (GRCm39) |
F378S |
probably damaging |
Het |
Ggt1 |
A |
T |
10: 75,420,799 (GRCm39) |
E388V |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,638,050 (GRCm39) |
T375A |
probably benign |
Het |
Gm43302 |
A |
G |
5: 105,436,894 (GRCm39) |
S71P |
probably benign |
Het |
Gnrhr |
G |
T |
5: 86,330,216 (GRCm39) |
T268K |
probably damaging |
Het |
Htt |
T |
C |
5: 34,962,020 (GRCm39) |
V335A |
probably benign |
Het |
Klhl20 |
A |
T |
1: 160,933,037 (GRCm39) |
L257H |
probably damaging |
Het |
Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
Muc5ac |
T |
A |
7: 141,369,323 (GRCm39) |
C2433S |
possibly damaging |
Het |
Nasp |
A |
G |
4: 116,461,086 (GRCm39) |
|
probably null |
Het |
Nipal2 |
A |
C |
15: 34,600,172 (GRCm39) |
V215G |
probably damaging |
Het |
Or10al5 |
A |
T |
17: 38,063,038 (GRCm39) |
I98F |
probably damaging |
Het |
Or9i1b |
C |
T |
19: 13,897,104 (GRCm39) |
T240I |
probably damaging |
Het |
Oxct2b |
G |
A |
4: 123,011,244 (GRCm39) |
R388H |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,774,240 (GRCm39) |
I469V |
possibly damaging |
Het |
Phyhip |
A |
G |
14: 70,704,294 (GRCm39) |
H171R |
possibly damaging |
Het |
Pigs |
C |
T |
11: 78,219,326 (GRCm39) |
T9M |
probably benign |
Het |
Plek |
T |
C |
11: 16,935,539 (GRCm39) |
D256G |
probably damaging |
Het |
Prss50 |
T |
C |
9: 110,693,371 (GRCm39) |
V369A |
probably benign |
Het |
Psmc5 |
A |
G |
11: 106,152,088 (GRCm39) |
K82E |
possibly damaging |
Het |
Qrsl1 |
A |
T |
10: 43,758,189 (GRCm39) |
F301L |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,797,673 (GRCm39) |
L135P |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,184,159 (GRCm39) |
V148A |
probably damaging |
Het |
Scyl1 |
T |
A |
19: 5,814,785 (GRCm39) |
D381V |
probably benign |
Het |
Selplg |
G |
T |
5: 113,957,162 (GRCm39) |
D381E |
probably benign |
Het |
Sh3rf2 |
C |
A |
18: 42,289,200 (GRCm39) |
Q674K |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,210,659 (GRCm39) |
T987A |
probably benign |
Het |
Sntb1 |
A |
G |
15: 55,539,698 (GRCm39) |
|
probably null |
Het |
Synj2 |
A |
T |
17: 6,036,327 (GRCm39) |
I14F |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,926,440 (GRCm39) |
M170K |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,607,096 (GRCm39) |
E211G |
possibly damaging |
Het |
Thnsl1 |
G |
T |
2: 21,217,016 (GRCm39) |
E257* |
probably null |
Het |
Tlr4 |
A |
G |
4: 66,758,070 (GRCm39) |
R288G |
possibly damaging |
Het |
Trbc1 |
T |
C |
6: 41,515,385 (GRCm39) |
|
probably benign |
Het |
Trim37 |
G |
A |
11: 87,107,374 (GRCm39) |
|
probably null |
Het |
Txnrd3 |
T |
C |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
Tyk2 |
C |
A |
9: 21,021,800 (GRCm39) |
Q875H |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,698 (GRCm39) |
Y761H |
probably damaging |
Het |
Zswim5 |
T |
C |
4: 116,836,876 (GRCm39) |
L720P |
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 |
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'- ACCCTGGAAACCTAAGAGGC -3'
(R):5'- TCTGGAACGGAGAGTAAACTGC -3'
Sequencing Primer
(F):5'- GGAAACCTAAGAGGCTTCTGCTTC -3'
(R):5'- CTGCAATAGGGAAACATAGCTTTAC -3'
|
Posted On |
2017-12-04 |