Incidental Mutation 'R1671:Col28a1'
| ID |
187606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
039707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1671 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8083773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 561
(N561K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115537
AA Change: N561K
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: N561K
| 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 |
noncoding transcript
Transcript: ENSMUST00000123163
|
| Meta Mutation Damage Score |
0.0764 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (70/70) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
C |
14: 64,210,637 (GRCm39) |
L197R |
probably benign |
Het |
| Arglu1 |
A |
G |
8: 8,733,896 (GRCm39) |
V140A |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,542 (GRCm39) |
E1461G |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,860,573 (GRCm39) |
D611V |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,341 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
C |
14: 56,802,502 (GRCm39) |
M21R |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,623,421 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Cyp2c70 |
G |
A |
19: 40,142,081 (GRCm39) |
P470L |
probably damaging |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,883 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
T |
9: 6,266,225 (GRCm39) |
V48D |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,818,789 (GRCm39) |
V3183A |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,472,054 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,384,179 (GRCm39) |
Y9F |
possibly damaging |
Het |
| Fbxo15 |
T |
A |
18: 84,977,231 (GRCm39) |
S93T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,801,400 (GRCm39) |
R19C |
probably damaging |
Het |
| Gmnn |
A |
T |
13: 24,936,054 (GRCm39) |
*207R |
probably null |
Het |
| Gucy1a1 |
A |
C |
3: 82,013,529 (GRCm39) |
I371S |
probably damaging |
Het |
| H1f11-ps |
C |
A |
19: 47,159,294 (GRCm39) |
V94L |
possibly damaging |
Het |
| Igsf10 |
G |
T |
3: 59,235,921 (GRCm39) |
S1420* |
probably null |
Het |
| Itih5 |
G |
T |
2: 10,191,782 (GRCm39) |
V106L |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,609,038 (GRCm39) |
I201K |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lars2 |
C |
T |
9: 123,247,344 (GRCm39) |
T283I |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,492,498 (GRCm39) |
I1313T |
probably damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,458,235 (GRCm39) |
R368* |
probably null |
Het |
| Mdga1 |
A |
T |
17: 30,069,603 (GRCm39) |
Y422N |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,003,126 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
C |
A |
11: 71,092,085 (GRCm39) |
V14L |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,838 (GRCm39) |
D1157G |
probably damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,523,780 (GRCm39) |
R598S |
probably damaging |
Het |
| Or2av9 |
A |
T |
11: 58,381,435 (GRCm39) |
W49R |
possibly damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,290 (GRCm39) |
K269E |
probably damaging |
Het |
| Or52ae9 |
C |
A |
7: 103,389,617 (GRCm39) |
A277S |
possibly damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,428 (GRCm39) |
M144V |
probably benign |
Het |
| Otog |
A |
T |
7: 45,911,210 (GRCm39) |
D687V |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,432,232 (GRCm39) |
C1461Y |
probably damaging |
Het |
| Raet1d |
A |
G |
10: 22,238,614 (GRCm39) |
M1V |
probably null |
Het |
| Rnf6 |
A |
T |
5: 146,147,998 (GRCm39) |
L340* |
probably null |
Het |
| Rsl1d1 |
T |
C |
16: 11,019,245 (GRCm39) |
T99A |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,130 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
A |
G |
12: 82,444,235 (GRCm39) |
Y982C |
probably damaging |
Het |
| Sorbs3 |
G |
T |
14: 70,428,915 (GRCm39) |
R417S |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,885,296 (GRCm39) |
C2102R |
probably damaging |
Het |
| Sp140l2 |
C |
T |
1: 85,235,106 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
A |
11: 30,092,245 (GRCm39) |
I494F |
possibly damaging |
Het |
| Tank |
T |
A |
2: 61,480,097 (GRCm39) |
V211E |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,488,120 (GRCm39) |
D840E |
probably benign |
Het |
| Tg |
T |
A |
15: 66,564,236 (GRCm39) |
C1146S |
possibly damaging |
Het |
| Tiam2 |
A |
T |
17: 3,557,109 (GRCm39) |
E110V |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,431,103 (GRCm39) |
W560R |
probably damaging |
Het |
| Triml2 |
G |
A |
8: 43,636,780 (GRCm39) |
R76H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,541,964 (GRCm39) |
E25347G |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,586,889 (GRCm38) |
L124P |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,103,265 (GRCm39) |
K153E |
probably benign |
Het |
| Wnt16 |
A |
T |
6: 22,298,178 (GRCm39) |
Y348F |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,707,715 (GRCm39) |
V897A |
possibly damaging |
Het |
| Zbtb26 |
T |
C |
2: 37,326,377 (GRCm39) |
T220A |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,224,675 (GRCm39) |
S141T |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,580,305 (GRCm39) |
Y128H |
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 |
|
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'- ACATGTGGCAATTCCTAGAGATGGC -3'
(R):5'- CGGGACAGAAGACTCGTAAATCCAGAC -3'
Sequencing Primer
(F):5'- AGTCTGATTGTCCCCCAGAAG -3'
(R):5'- CTTAGATGTAACGAACATCGGAAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation