Incidental Mutation 'R8782:Col28a1'
| ID |
670319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
068630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8175227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 207
(S207F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
[ENSMUST00000213284]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000115537
AA Change: S207F
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: S207F
| 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 |
unknown
Transcript: ENSMUST00000213284
AA Change: S207F
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,910,242 (GRCm39) |
|
probably null |
Het |
| Abhd16b |
G |
T |
2: 181,136,208 (GRCm39) |
R370L |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,250,035 (GRCm38) |
T342S |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,237,678 (GRCm39) |
Q329L |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,373,242 (GRCm39) |
M233V |
possibly damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,714,010 (GRCm39) |
T474A |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,533 (GRCm39) |
T57A |
possibly damaging |
Het |
| Bcat2 |
A |
G |
7: 45,234,917 (GRCm39) |
D205G |
probably benign |
Het |
| Brd1 |
G |
T |
15: 88,614,834 (GRCm39) |
C20* |
probably null |
Het |
| Camsap2 |
T |
C |
1: 136,204,957 (GRCm39) |
M519V |
|
Het |
| Caprin1 |
T |
A |
2: 103,603,133 (GRCm39) |
T477S |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,161,712 (GRCm39) |
Q1516K |
possibly damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chat |
A |
T |
14: 32,146,155 (GRCm39) |
D339E |
probably benign |
Het |
| Commd10 |
T |
A |
18: 47,096,809 (GRCm39) |
L72Q |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,508,306 (GRCm39) |
C37R |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,811,307 (GRCm39) |
K454N |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,868 (GRCm39) |
H219Q |
probably benign |
Het |
| Ddx10 |
A |
T |
9: 53,146,588 (GRCm39) |
F211L |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,473,538 (GRCm39) |
I66F |
possibly damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,179,168 (GRCm39) |
D343E |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,205,332 (GRCm39) |
R419H |
probably damaging |
Het |
| Fam120b |
A |
T |
17: 15,622,472 (GRCm39) |
Q150L |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 35,095,033 (GRCm39) |
P242L |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,072,229 (GRCm39) |
T291A |
probably damaging |
Het |
| Gm14305 |
T |
G |
2: 176,413,213 (GRCm39) |
C368W |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,404,149 (GRCm39) |
D307G |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,777,663 (GRCm39) |
M261V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,636 (GRCm39) |
M2891T |
probably benign |
Het |
| Ighv1-31 |
A |
T |
12: 114,793,305 (GRCm39) |
W5R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,818 (GRCm39) |
T541A |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,744,952 (GRCm39) |
L1452Q |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,292,437 (GRCm39) |
S542T |
probably benign |
Het |
| Kif18a |
C |
T |
2: 109,127,118 (GRCm39) |
R351C |
probably damaging |
Het |
| Lactbl1 |
T |
G |
4: 136,358,329 (GRCm39) |
L100R |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,025,051 (GRCm39) |
S260P |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,549,976 (GRCm39) |
Y2315F |
probably benign |
Het |
| Lrrc32 |
A |
T |
7: 98,148,270 (GRCm39) |
N350I |
probably damaging |
Het |
| Lyn |
C |
A |
4: 3,783,055 (GRCm39) |
F429L |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,294 (GRCm39) |
K402E |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,845 (GRCm39) |
E121G |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,299 (GRCm39) |
L173P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,298,496 (GRCm39) |
T369A |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,187,357 (GRCm39) |
L1308P |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,873 (GRCm39) |
D1895G |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,340,763 (GRCm39) |
T6A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,078,785 (GRCm39) |
E5819D |
probably benign |
Het |
| Neurod4 |
T |
C |
10: 130,106,948 (GRCm39) |
N109D |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,000,485 (GRCm39) |
M1L |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,882,540 (GRCm39) |
Y64C |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,501 (GRCm39) |
N417Y |
probably damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,962 (GRCm39) |
D212V |
probably benign |
Het |
| Or13c25 |
T |
A |
4: 52,911,693 (GRCm39) |
M34L |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,296 (GRCm39) |
H65L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,417,127 (GRCm39) |
K637R |
probably benign |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,865 (GRCm39) |
L106P |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,494,962 (GRCm39) |
N67S |
possibly damaging |
Het |
| Plcxd3 |
A |
G |
15: 4,546,250 (GRCm39) |
T85A |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,220 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,719,025 (GRCm39) |
M108K |
probably damaging |
Het |
| Pou3f1 |
GCACCACCACCACCACCAC |
GCACCACCACCACCAC |
4: 124,552,807 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
A |
T |
13: 27,758,011 (GRCm39) |
C233S |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,616 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,871,548 (GRCm39) |
M328K |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,580,798 (GRCm39) |
Y169H |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
| Speer4a1 |
T |
A |
5: 26,241,754 (GRCm39) |
H124L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,735,685 (GRCm39) |
T1299S |
probably benign |
Het |
| Tesmin |
T |
C |
19: 3,445,965 (GRCm39) |
V237A |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,951,701 (GRCm39) |
I984N |
probably benign |
Het |
| Ube2q2 |
G |
A |
9: 55,070,354 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
G |
7: 23,277,403 (GRCm39) |
D265G |
possibly damaging |
Het |
| Vps13b |
G |
T |
15: 35,422,483 (GRCm39) |
V148L |
possibly damaging |
Het |
| Vwce |
T |
C |
19: 10,615,491 (GRCm39) |
V124A |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,491,787 (GRCm39) |
R292H |
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 |
|
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 |
|
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'- GGGATGTAGCTTCAGGGAAC -3'
(R):5'- TATGCCATCTCCAATGCCAC -3'
Sequencing Primer
(F):5'- GCTTCAGGGAACAAACTTCTG -3'
(R):5'- CCACAAGGCTACTTAAAAGAGAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation