Incidental Mutation 'R9159:Col28a1'
| ID |
695568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R9159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8014993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 804
(D804V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115537
AA Change: D804V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: D804V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
97% (72/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
T |
14: 70,394,238 (GRCm39) |
M179K |
probably benign |
Het |
| A030003K21Rik |
A |
G |
1: 82,920,787 (GRCm39) |
V86A |
unknown |
Het |
| AC133488.1 |
A |
T |
16: 18,440,075 (GRCm39) |
V363E |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,901,408 (GRCm39) |
S890P |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,973,293 (GRCm39) |
V685A |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,990,131 (GRCm39) |
M867K |
possibly damaging |
Het |
| Apba3 |
T |
A |
10: 81,106,867 (GRCm39) |
S225T |
|
Het |
| Aplp1 |
T |
A |
7: 30,141,775 (GRCm39) |
T228S |
probably benign |
Het |
| Arhgap18 |
A |
G |
10: 26,730,886 (GRCm39) |
D188G |
probably benign |
Het |
| BC024063 |
T |
A |
10: 81,944,906 (GRCm39) |
S175R |
possibly damaging |
Het |
| Bloc1s6 |
T |
G |
2: 122,580,548 (GRCm39) |
S2R |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,974,245 (GRCm39) |
I119T |
possibly damaging |
Het |
| Cdk8 |
T |
C |
5: 146,168,549 (GRCm39) |
V16A |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,252,904 (GRCm39) |
M308T |
probably benign |
Het |
| Cfap53 |
T |
A |
18: 74,416,272 (GRCm39) |
Y2N |
probably damaging |
Het |
| Csta3 |
G |
A |
16: 36,038,069 (GRCm39) |
V69I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,762,317 (GRCm39) |
D443E |
probably damaging |
Het |
| Cyp2d9 |
A |
G |
15: 82,338,572 (GRCm39) |
D202G |
possibly damaging |
Het |
| Dchs1 |
G |
A |
7: 105,415,126 (GRCm39) |
A686V |
probably benign |
Het |
| Egf |
A |
T |
3: 129,472,026 (GRCm39) |
N1199K |
probably benign |
Het |
| Eva1a |
A |
G |
6: 82,068,855 (GRCm39) |
R61G |
possibly damaging |
Het |
| Exoc6 |
T |
A |
19: 37,597,478 (GRCm39) |
D626E |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,663,916 (GRCm39) |
|
probably null |
Het |
| Firrm |
A |
G |
1: 163,814,514 (GRCm39) |
I143T |
probably damaging |
Het |
| Gm12888 |
T |
C |
4: 121,176,600 (GRCm39) |
Q67R |
probably null |
Het |
| Gm16485 |
A |
G |
9: 8,972,319 (GRCm39) |
S62G |
unknown |
Het |
| Gng4 |
T |
C |
13: 13,999,896 (GRCm39) |
I55T |
probably damaging |
Het |
| Gpihbp1 |
A |
G |
15: 75,469,830 (GRCm39) |
S182G |
possibly damaging |
Het |
| Hax1 |
T |
C |
3: 89,903,127 (GRCm39) |
R251G |
probably damaging |
Het |
| Igf2bp2 |
G |
A |
16: 21,900,502 (GRCm39) |
T213I |
probably damaging |
Het |
| Il23a |
T |
A |
10: 128,133,427 (GRCm39) |
K66* |
probably null |
Het |
| Itga2 |
A |
T |
13: 115,014,298 (GRCm39) |
L210* |
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Matr3 |
T |
A |
18: 35,712,355 (GRCm39) |
M389K |
possibly damaging |
Het |
| Mettl15 |
T |
C |
2: 108,923,444 (GRCm39) |
D326G |
probably damaging |
Het |
| Mta1 |
T |
A |
12: 113,100,025 (GRCm39) |
V645E |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Naa15 |
T |
A |
3: 51,358,802 (GRCm39) |
N362K |
probably benign |
Het |
| Necab2 |
T |
C |
8: 120,189,303 (GRCm39) |
Y158H |
probably damaging |
Het |
| Nphp3 |
T |
A |
9: 103,897,980 (GRCm39) |
L523Q |
probably damaging |
Het |
| Nphs1 |
T |
G |
7: 30,165,026 (GRCm39) |
F540V |
possibly damaging |
Het |
| Or2av9 |
A |
G |
11: 58,381,350 (GRCm39) |
V77A |
probably damaging |
Het |
| Or2k2 |
A |
G |
4: 58,785,320 (GRCm39) |
I134T |
probably benign |
Het |
| Or5p55 |
A |
T |
7: 107,567,524 (GRCm39) |
R307* |
probably null |
Het |
| Ppa1 |
A |
T |
10: 61,496,784 (GRCm39) |
I91F |
probably damaging |
Het |
| Prdm6 |
C |
A |
18: 53,598,019 (GRCm39) |
A127D |
unknown |
Het |
| Prdm8 |
T |
C |
5: 98,334,175 (GRCm39) |
F581L |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,589,428 (GRCm39) |
I372T |
probably damaging |
Het |
| Rnf144b |
A |
G |
13: 47,396,348 (GRCm39) |
I228M |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,374,385 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,613,824 (GRCm39) |
H441R |
possibly damaging |
Het |
| Shbg |
G |
A |
11: 69,506,430 (GRCm39) |
L327F |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,123,539 (GRCm39) |
Q1113* |
probably null |
Het |
| Smad2 |
T |
A |
18: 76,395,573 (GRCm39) |
I4N |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,118,524 (GRCm39) |
R4829* |
probably null |
Het |
| Sult2b1 |
T |
A |
7: 45,391,534 (GRCm39) |
E84V |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,444,474 (GRCm39) |
Y162H |
|
Het |
| Tedc2 |
A |
G |
17: 24,436,705 (GRCm39) |
L308P |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,233,264 (GRCm39) |
V26A |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,242,566 (GRCm39) |
N181K |
possibly damaging |
Het |
| Tmem229b |
T |
G |
12: 79,011,448 (GRCm39) |
N161T |
possibly damaging |
Het |
| Tmem43 |
A |
C |
6: 91,459,291 (GRCm39) |
D254A |
probably benign |
Het |
| Trpv6 |
T |
C |
6: 41,603,074 (GRCm39) |
D266G |
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,943,717 (GRCm39) |
I102T |
possibly damaging |
Het |
| Ung |
A |
G |
5: 114,270,166 (GRCm39) |
|
probably benign |
Het |
| Upp2 |
C |
T |
2: 58,667,996 (GRCm39) |
H230Y |
probably damaging |
Het |
| Vmn1r184 |
G |
A |
7: 25,966,545 (GRCm39) |
S97N |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,521,931 (GRCm39) |
V136E |
possibly damaging |
Het |
| Wdr20rt |
T |
C |
12: 65,272,918 (GRCm39) |
V127A |
probably damaging |
Het |
| Yme1l1 |
T |
A |
2: 23,063,058 (GRCm39) |
F210I |
probably damaging |
Het |
| Yrdc |
T |
C |
4: 124,747,811 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
G |
T |
3: 5,464,312 (GRCm39) |
R1515L |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,217 (GRCm39) |
P2150L |
probably damaging |
Het |
| Zfp267 |
C |
A |
3: 36,219,902 (GRCm39) |
H642N |
possibly damaging |
Het |
| Zfp988 |
C |
T |
4: 147,416,450 (GRCm39) |
P295S |
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 |
|
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 |
|
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'- CAGTGGCTGTATAGGTGCCTTC -3'
(R):5'- ACCACAGTTGAGGTCTTTGTTTC -3'
Sequencing Primer
(F):5'- AGATACTGCATGTTGTCTACCACCAG -3'
(R):5'- GAGGTCTTTGTTTCATTGCCAAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation