Incidental Mutation 'R1915:Col28a1'
ID |
214766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col28a1
|
Ensembl Gene |
ENSMUSG00000068794 |
Gene Name |
collagen, type XXVIII, alpha 1 |
Synonyms |
|
MMRRC Submission |
039933-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R1915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8176333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 8
(F8S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
[ENSMUST00000213284]
|
AlphaFold |
Q2UY11 |
Predicted Effect |
unknown
Transcript: ENSMUST00000115537
AA Change: F8S
|
SMART Domains |
Protein: ENSMUSP00000111199 Gene: ENSMUSG00000068794 AA Change: F8S
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
AA Change: F8S
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.0850 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.4%
|
Validation Efficiency |
100% (85/85) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,103,036 (GRCm39) |
R852G |
probably benign |
Het |
Adam2 |
C |
A |
14: 66,275,006 (GRCm39) |
V576F |
possibly damaging |
Het |
Afmid |
T |
C |
11: 117,726,625 (GRCm39) |
F250L |
possibly damaging |
Het |
Apc2 |
A |
T |
10: 80,151,701 (GRCm39) |
I2252L |
probably benign |
Het |
Bcar1 |
A |
G |
8: 112,442,030 (GRCm39) |
V270A |
probably damaging |
Het |
Btnl7-ps |
T |
A |
17: 34,760,619 (GRCm39) |
|
noncoding transcript |
Het |
Cdkn2aip |
T |
C |
8: 48,164,961 (GRCm39) |
T251A |
probably benign |
Het |
Cdx1 |
A |
G |
18: 61,152,970 (GRCm39) |
V212A |
probably benign |
Het |
Cep95 |
C |
T |
11: 106,705,464 (GRCm39) |
T483I |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,389,329 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
A |
G |
10: 92,720,564 (GRCm39) |
V2630A |
unknown |
Het |
Chia1 |
T |
A |
3: 106,035,875 (GRCm39) |
N238K |
probably benign |
Het |
Cldn23 |
T |
A |
8: 36,293,099 (GRCm39) |
I130F |
possibly damaging |
Het |
Cntrl |
T |
C |
2: 35,052,873 (GRCm39) |
M1126T |
probably benign |
Het |
Cpeb3 |
C |
T |
19: 37,031,665 (GRCm39) |
R579Q |
probably damaging |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dbh |
A |
G |
2: 27,058,234 (GRCm39) |
D134G |
probably damaging |
Het |
Dcbld1 |
G |
T |
10: 52,193,131 (GRCm39) |
C292F |
probably damaging |
Het |
Dlgap5 |
T |
C |
14: 47,645,230 (GRCm39) |
K304E |
probably benign |
Het |
Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
Eps8l2 |
G |
A |
7: 140,941,765 (GRCm39) |
V650M |
probably damaging |
Het |
Erlin1 |
T |
C |
19: 44,047,504 (GRCm39) |
Y139C |
probably damaging |
Het |
Exoc3 |
A |
G |
13: 74,321,413 (GRCm39) |
|
probably null |
Het |
F5 |
C |
A |
1: 164,010,486 (GRCm39) |
R406S |
probably damaging |
Het |
Fahd1 |
A |
T |
17: 25,068,622 (GRCm39) |
W152R |
possibly damaging |
Het |
Farp2 |
T |
A |
1: 93,456,424 (GRCm39) |
S36T |
probably benign |
Het |
Foxs1 |
A |
G |
2: 152,774,760 (GRCm39) |
C98R |
probably damaging |
Het |
Gal3st4 |
T |
A |
5: 138,263,672 (GRCm39) |
K442N |
probably benign |
Het |
Gm10644 |
G |
A |
8: 84,660,479 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
A |
T |
13: 50,054,889 (GRCm39) |
|
noncoding transcript |
Het |
Gpr88 |
G |
T |
3: 116,046,073 (GRCm39) |
S79R |
possibly damaging |
Het |
Heatr9 |
T |
G |
11: 83,409,035 (GRCm39) |
I171L |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,460,357 (GRCm39) |
T2209A |
probably benign |
Het |
Hsh2d |
A |
G |
8: 72,947,365 (GRCm39) |
T21A |
probably damaging |
Het |
Irf4 |
A |
T |
13: 30,945,445 (GRCm39) |
Q397L |
probably benign |
Het |
Itgae |
T |
A |
11: 73,009,469 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
T |
9: 13,245,609 (GRCm39) |
D17E |
possibly damaging |
Het |
Kcna4 |
T |
C |
2: 107,127,123 (GRCm39) |
V619A |
probably benign |
Het |
Kcnh6 |
T |
A |
11: 105,908,270 (GRCm39) |
Y295* |
probably null |
Het |
Kif1b |
G |
A |
4: 149,351,673 (GRCm39) |
T263I |
probably damaging |
Het |
Large2 |
G |
T |
2: 92,196,170 (GRCm39) |
|
probably benign |
Het |
Lcp1 |
T |
A |
14: 75,436,737 (GRCm39) |
Y28N |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mccc2 |
T |
C |
13: 100,085,038 (GRCm39) |
|
probably null |
Het |
Mlh3 |
T |
C |
12: 85,308,442 (GRCm39) |
Y1115C |
probably benign |
Het |
Mlst8 |
C |
T |
17: 24,696,264 (GRCm39) |
W155* |
probably null |
Het |
Myh10 |
T |
C |
11: 68,681,034 (GRCm39) |
L1025P |
probably damaging |
Het |
Myof |
T |
A |
19: 37,966,141 (GRCm39) |
N393I |
probably damaging |
Het |
Nalcn |
C |
T |
14: 123,540,181 (GRCm39) |
V1140I |
probably benign |
Het |
Ncald |
C |
T |
15: 37,397,324 (GRCm39) |
A119T |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,373,114 (GRCm39) |
E1044G |
possibly damaging |
Het |
Nup58 |
T |
C |
14: 60,475,980 (GRCm39) |
K279R |
probably benign |
Het |
Oas1a |
A |
T |
5: 121,043,876 (GRCm39) |
N85K |
possibly damaging |
Het |
Or11g1 |
C |
T |
14: 50,651,798 (GRCm39) |
P266S |
probably damaging |
Het |
Or8b12i |
T |
C |
9: 20,082,324 (GRCm39) |
Y181C |
probably benign |
Het |
Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
Pou2f2 |
C |
T |
7: 24,799,581 (GRCm39) |
A92T |
possibly damaging |
Het |
Ppp1r16a |
T |
C |
15: 76,577,268 (GRCm39) |
L212P |
probably damaging |
Het |
Pram1 |
A |
T |
17: 33,860,131 (GRCm39) |
I233F |
probably benign |
Het |
Ptbp3 |
A |
T |
4: 59,517,635 (GRCm39) |
L84Q |
probably damaging |
Het |
Ptgr2 |
A |
T |
12: 84,349,096 (GRCm39) |
Q145L |
probably benign |
Het |
Ptpn23 |
A |
T |
9: 110,215,575 (GRCm39) |
D1396E |
probably damaging |
Het |
Pudp |
T |
C |
18: 50,701,278 (GRCm39) |
N152D |
probably benign |
Het |
Rbm20 |
T |
A |
19: 53,852,518 (GRCm39) |
L1166Q |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,789,053 (GRCm39) |
I223R |
probably damaging |
Het |
Ripor1 |
A |
T |
8: 106,343,518 (GRCm39) |
E270D |
probably damaging |
Het |
Rorc |
T |
C |
3: 94,298,480 (GRCm39) |
C322R |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,959,552 (GRCm39) |
D1116G |
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
C |
G |
2: 29,901,048 (GRCm39) |
Q1425E |
probably benign |
Het |
Srd5a3 |
G |
A |
5: 76,295,552 (GRCm39) |
V81I |
probably benign |
Het |
Stk36 |
T |
A |
1: 74,673,346 (GRCm39) |
S1080T |
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,706,310 (GRCm39) |
I790K |
probably damaging |
Het |
Syde2 |
T |
G |
3: 145,720,071 (GRCm39) |
Y764* |
probably null |
Het |
Tmem130 |
A |
G |
5: 144,674,666 (GRCm39) |
F353S |
probably damaging |
Het |
Tmem131 |
T |
A |
1: 36,835,347 (GRCm39) |
K1591N |
probably damaging |
Het |
Urb2 |
C |
A |
8: 124,756,537 (GRCm39) |
T748K |
possibly damaging |
Het |
Uri1 |
A |
T |
7: 37,661,103 (GRCm39) |
I480K |
probably damaging |
Het |
Zcchc3 |
A |
C |
2: 152,255,601 (GRCm39) |
V366G |
probably benign |
Het |
Zfp292 |
G |
A |
4: 34,805,100 (GRCm39) |
S2648F |
possibly damaging |
Het |
Zfp54 |
T |
C |
17: 21,654,414 (GRCm39) |
Y303H |
probably benign |
Het |
Zfp729b |
A |
G |
13: 67,741,339 (GRCm39) |
F319L |
probably damaging |
Het |
Zfp934 |
G |
A |
13: 62,665,769 (GRCm39) |
H291Y |
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 |
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'- ACAGTGGTATAAGTTTATCAAGCAGAA -3'
(R):5'- TAGAAACCTGTTTGTTTTCTTGTTCT -3'
Sequencing Primer
(F):5'- CCTGGAAGTCATTTTTCCTT -3'
(R):5'- TCTCTTTAGACCTACCAGAAGAGGG -3'
|
Posted On |
2014-07-14 |