Incidental Mutation 'R5807:Col28a1'
| ID |
448578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col28a1
|
| Ensembl Gene |
ENSMUSG00000068794 |
| Gene Name |
collagen, type XXVIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
043393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5807 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
7997808-8192617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8158144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 305
(M305L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115537]
|
| AlphaFold |
Q2UY11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115537
AA Change: M305L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000111199
Gene: ENSMUSG00000068794
AA Change: M305L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (65/66) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,651 (GRCm39) |
L943P |
probably damaging |
Het |
| Abcg5 |
C |
A |
17: 84,979,719 (GRCm39) |
V214F |
probably damaging |
Het |
| Ang |
T |
A |
14: 51,338,886 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,523,546 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,846,696 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,866,428 (GRCm39) |
I409T |
probably damaging |
Het |
| Atp5f1b |
G |
A |
10: 127,924,431 (GRCm39) |
|
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,495,454 (GRCm39) |
A660V |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,376 (GRCm39) |
T223A |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,211,353 (GRCm39) |
M507T |
unknown |
Het |
| Cep295 |
A |
G |
9: 15,243,828 (GRCm39) |
S287P |
probably damaging |
Het |
| Chrna7 |
T |
A |
7: 62,798,349 (GRCm39) |
D111V |
probably damaging |
Het |
| Clxn |
A |
T |
16: 14,734,836 (GRCm39) |
I69F |
probably benign |
Het |
| Cnr2 |
A |
G |
4: 135,644,747 (GRCm39) |
D275G |
probably benign |
Het |
| Cpb1 |
T |
A |
3: 20,317,906 (GRCm39) |
D206V |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,101,944 (GRCm39) |
L453S |
probably damaging |
Het |
| Ddx52 |
T |
G |
11: 83,840,508 (GRCm39) |
S284A |
probably benign |
Het |
| Eif2ak4 |
G |
T |
2: 118,219,332 (GRCm39) |
R48L |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,561,175 (GRCm39) |
E303G |
possibly damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,114,933 (GRCm39) |
E23G |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,739,263 (GRCm39) |
S188P |
probably damaging |
Het |
| Fer1l6 |
C |
A |
15: 58,462,399 (GRCm39) |
S818* |
probably null |
Het |
| Fn1 |
T |
C |
1: 71,687,218 (GRCm39) |
D213G |
probably damaging |
Het |
| Gcg |
A |
G |
2: 62,306,069 (GRCm39) |
I176T |
possibly damaging |
Het |
| Glis1 |
T |
A |
4: 107,425,279 (GRCm39) |
S109T |
probably benign |
Het |
| Gm266 |
T |
C |
12: 111,452,173 (GRCm39) |
D11G |
probably benign |
Het |
| Gm5070 |
C |
A |
3: 95,317,965 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8444 |
T |
C |
15: 81,727,654 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,356,198 (GRCm39) |
T117A |
probably damaging |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,430 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
A |
7: 55,880,667 (GRCm39) |
F4766L |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,411 (GRCm39) |
E202* |
probably null |
Het |
| Kcnu1 |
C |
T |
8: 26,339,742 (GRCm39) |
T20I |
possibly damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,391 (GRCm39) |
D161G |
probably damaging |
Het |
| Krt84 |
T |
A |
15: 101,438,647 (GRCm39) |
K280M |
probably damaging |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,895 (GRCm39) |
C199S |
unknown |
Het |
| Mrgprb3 |
A |
G |
7: 48,293,110 (GRCm39) |
V147A |
probably benign |
Het |
| Ndufs6 |
A |
T |
13: 73,475,553 (GRCm39) |
F48L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,970,476 (GRCm39) |
S2586G |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,759 (GRCm39) |
R299G |
probably benign |
Het |
| Or13c7b |
C |
A |
4: 43,820,912 (GRCm39) |
V150L |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,414,857 (GRCm39) |
D416G |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,099,766 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
C |
A |
11: 77,913,252 (GRCm39) |
D401E |
probably benign |
Het |
| Pla2r1 |
C |
T |
2: 60,259,065 (GRCm39) |
V1108M |
possibly damaging |
Het |
| Prim2 |
A |
G |
1: 33,519,487 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,701,947 (GRCm39) |
H406R |
probably benign |
Het |
| Qpctl |
G |
T |
7: 18,877,132 (GRCm39) |
H329N |
probably damaging |
Het |
| Ripk3 |
T |
A |
14: 56,022,755 (GRCm39) |
N390Y |
probably damaging |
Het |
| Rnase1 |
A |
G |
14: 51,382,907 (GRCm39) |
V149A |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,434,192 (GRCm39) |
D581V |
probably damaging |
Het |
| Slamf1 |
A |
G |
1: 171,602,630 (GRCm39) |
Y119C |
probably damaging |
Het |
| Slc25a34 |
A |
G |
4: 141,350,973 (GRCm39) |
M12T |
probably benign |
Het |
| Tmem38a |
A |
G |
8: 73,333,944 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,714,500 (GRCm39) |
T793I |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,443,211 (GRCm39) |
D384G |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,606,281 (GRCm39) |
Y398N |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
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 |
|
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'- TGGTCTATGAAAAGGGCACG -3'
(R):5'- GGCAAAAGTTTTCAAAGTTCAGTGC -3'
Sequencing Primer
(F):5'- GGGGGTGTCATTATGTAAGTCATG -3'
(R):5'- AAGTTTTCAAAGTTCAGTGCTCCTTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation