Incidental Mutation 'R0726:Col28a1'
| ID |
218872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
038908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R0726 (G1)
|
| Quality Score |
66 |
|
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 8014495 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 |
0.9480 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 89.2%
|
| Validation Efficiency |
98% (90/92) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
G |
7: 143,425,498 (GRCm39) |
D49G |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,850 (GRCm39) |
Y256C |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,241,021 (GRCm39) |
D160V |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,373,941 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,705,119 (GRCm39) |
A729S |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,104,463 (GRCm39) |
V503A |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,235,353 (GRCm39) |
|
probably benign |
Het |
| Braf |
C |
T |
6: 39,639,082 (GRCm39) |
R223Q |
possibly damaging |
Het |
| Cd101 |
A |
T |
3: 100,927,938 (GRCm39) |
S48T |
possibly damaging |
Het |
| Cdh9 |
T |
G |
15: 16,831,130 (GRCm39) |
D322E |
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,232,859 (GRCm39) |
R712W |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,939,637 (GRCm39) |
|
probably benign |
Het |
| Cyp2d37-ps |
A |
C |
15: 82,574,650 (GRCm39) |
|
noncoding transcript |
Het |
| Cyth3 |
T |
C |
5: 143,678,397 (GRCm39) |
V115A |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,856,507 (GRCm39) |
V2885M |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,889,180 (GRCm39) |
Y326* |
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,033 (GRCm39) |
I1844T |
probably benign |
Het |
| Fam20a |
T |
A |
11: 109,568,020 (GRCm39) |
N357Y |
probably damaging |
Het |
| Fancc |
C |
A |
13: 63,471,225 (GRCm39) |
R385L |
probably benign |
Het |
| Foxe3 |
A |
T |
4: 114,782,447 (GRCm39) |
L255H |
unknown |
Het |
| Frem2 |
T |
C |
3: 53,427,047 (GRCm39) |
D2967G |
possibly damaging |
Het |
| Gabra6 |
T |
G |
11: 42,205,954 (GRCm39) |
T301P |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,657,412 (GRCm39) |
|
probably benign |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnj9 |
G |
A |
1: 172,153,488 (GRCm39) |
S212F |
probably damaging |
Het |
| Kif15 |
C |
A |
9: 122,788,993 (GRCm39) |
H62N |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,647 (GRCm39) |
D106G |
probably damaging |
Het |
| Krtap13-1 |
T |
A |
16: 88,526,192 (GRCm39) |
S139T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,131 (GRCm39) |
N354K |
probably benign |
Het |
| Lypd3 |
G |
T |
7: 24,337,969 (GRCm39) |
E112* |
probably null |
Het |
| Med13l |
A |
T |
5: 118,886,749 (GRCm39) |
N1550I |
probably damaging |
Het |
| Mettl2 |
C |
T |
11: 105,017,670 (GRCm39) |
P60L |
probably benign |
Het |
| Mtcl2 |
G |
T |
2: 156,902,182 (GRCm39) |
R278S |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,590,201 (GRCm39) |
E850G |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,626 (GRCm39) |
R739G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,039 (GRCm39) |
D584E |
probably benign |
Het |
| Nkain3 |
C |
T |
4: 20,158,388 (GRCm39) |
V162M |
possibly damaging |
Het |
| Nmrk1 |
T |
C |
19: 18,618,844 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,018,372 (GRCm39) |
|
probably benign |
Het |
| Or2n1b |
T |
C |
17: 38,459,515 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,627 (GRCm39) |
H241L |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,576,352 (GRCm39) |
N293K |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,969 (GRCm39) |
V289D |
probably damaging |
Het |
| Or8b44 |
T |
A |
9: 38,410,418 (GRCm39) |
M151K |
possibly damaging |
Het |
| Otulinl |
A |
T |
15: 27,657,033 (GRCm39) |
I338N |
probably damaging |
Het |
| Phex |
T |
A |
X: 156,155,557 (GRCm39) |
|
probably benign |
Het |
| Pip5k1b |
G |
T |
19: 24,356,256 (GRCm39) |
D227E |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,914 (GRCm39) |
I119T |
unknown |
Het |
| Rab19 |
G |
T |
6: 39,360,893 (GRCm39) |
V14L |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,630,118 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,678,074 (GRCm39) |
S118N |
probably damaging |
Het |
| Rif1 |
C |
T |
2: 52,000,365 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,425,048 (GRCm39) |
T188A |
probably damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,257,201 (GRCm39) |
E506K |
probably damaging |
Het |
| Smarca2 |
A |
T |
19: 26,675,803 (GRCm39) |
K1014N |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,611,435 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
T |
C |
15: 55,539,752 (GRCm39) |
R361G |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,275 (GRCm39) |
I208N |
probably damaging |
Het |
| Tas2r102 |
T |
A |
6: 132,739,415 (GRCm39) |
W108R |
probably damaging |
Het |
| Tcl1 |
A |
G |
12: 105,184,929 (GRCm39) |
Y94H |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,629 (GRCm39) |
Y1986F |
probably damaging |
Het |
| Tet2 |
G |
A |
3: 133,173,945 (GRCm39) |
P1439L |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,563,108 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
G |
A |
3: 89,928,553 (GRCm39) |
T526M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ushbp1 |
T |
A |
8: 71,841,391 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
C |
T |
9: 48,915,169 (GRCm39) |
R115C |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,186 (GRCm39) |
D461N |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,265 (GRCm39) |
F784I |
probably damaging |
Het |
| Zfp59 |
A |
T |
7: 27,553,513 (GRCm39) |
I322F |
probably damaging |
Het |
| Zfp607a |
A |
T |
7: 27,578,574 (GRCm39) |
H548L |
probably benign |
Het |
| Zfp626 |
G |
A |
7: 27,518,048 (GRCm39) |
C343Y |
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 |
|
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 |
|
|
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'- CCAGGTTAGCATAGTGACACTTCCG -3'
(R):5'- TGAAGGATGCCAATGACTCCAACG -3'
Sequencing Primer
(F):5'- CATAGTGACACTTCCGAAGGTTAG -3'
(R):5'- TGAAGAAGGATGACCCCAAC -3'
|
| Posted On |
2014-08-22 |
Incidental Mutation