Incidental Mutation 'IGL01936:Col20a1'
ID |
180717 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Col20a1
|
Ensembl Gene |
ENSMUSG00000016356 |
Gene Name |
collagen, type XX, alpha 1 |
Synonyms |
1700051I12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01936
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 180651161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
AlphaFold |
Q923P0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108856
|
SMART Domains |
Protein: ENSMUSP00000104484 Gene: ENSMUSG00000016356
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
FN3
|
24 |
103 |
2.18e1 |
SMART |
VWA
|
175 |
354 |
4.68e-55 |
SMART |
FN3
|
375 |
453 |
6.2e-7 |
SMART |
FN3
|
464 |
543 |
7.34e-9 |
SMART |
FN3
|
555 |
633 |
8.18e-7 |
SMART |
FN3
|
644 |
723 |
8.98e-4 |
SMART |
FN3
|
738 |
817 |
1.43e-11 |
SMART |
TSPN
|
840 |
1035 |
6.45e-31 |
SMART |
Pfam:Collagen
|
1067 |
1125 |
3.8e-9 |
PFAM |
Pfam:Collagen
|
1122 |
1174 |
7.4e-9 |
PFAM |
Pfam:Collagen
|
1165 |
1223 |
3e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149179
|
SMART Domains |
Protein: ENSMUSP00000115291 Gene: ENSMUSG00000016356
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
FN3
|
24 |
103 |
2.18e1 |
SMART |
VWA
|
175 |
354 |
4.68e-55 |
SMART |
FN3
|
375 |
453 |
6.2e-7 |
SMART |
FN3
|
464 |
543 |
7.34e-9 |
SMART |
FN3
|
555 |
633 |
8.18e-7 |
SMART |
FN3
|
644 |
723 |
8.98e-4 |
SMART |
FN3
|
738 |
817 |
1.43e-11 |
SMART |
TSPN
|
840 |
1035 |
6.45e-31 |
SMART |
low complexity region
|
1069 |
1106 |
N/A |
INTRINSIC |
low complexity region
|
1108 |
1121 |
N/A |
INTRINSIC |
low complexity region
|
1136 |
1155 |
N/A |
INTRINSIC |
Blast:TSPN
|
1156 |
1202 |
2e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155425
|
SMART Domains |
Protein: ENSMUSP00000114654 Gene: ENSMUSG00000016356
Domain | Start | End | E-Value | Type |
Pfam:Collagen
|
1 |
55 |
4.9e-12 |
PFAM |
Pfam:Collagen
|
36 |
94 |
2.2e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228434
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
A |
5: 90,009,282 (GRCm39) |
H127L |
probably benign |
Het |
Adamtsl3 |
T |
C |
7: 82,244,579 (GRCm39) |
V419A |
possibly damaging |
Het |
Arhgap31 |
T |
A |
16: 38,423,287 (GRCm39) |
L926F |
probably damaging |
Het |
Asgr2 |
A |
T |
11: 69,988,877 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
A |
6: 122,828,194 (GRCm39) |
T8S |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,695,543 (GRCm39) |
I273V |
probably damaging |
Het |
Ccnl2 |
T |
A |
4: 155,904,856 (GRCm39) |
C242S |
probably damaging |
Het |
Cdkn2a |
A |
T |
4: 89,212,569 (GRCm39) |
|
probably null |
Het |
Cfap45 |
T |
G |
1: 172,361,616 (GRCm39) |
M231R |
probably damaging |
Het |
Clcn7 |
A |
C |
17: 25,374,350 (GRCm39) |
N464H |
probably benign |
Het |
Col7a1 |
T |
A |
9: 108,797,067 (GRCm39) |
|
probably benign |
Het |
Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
Ctcf |
T |
C |
8: 106,396,864 (GRCm39) |
V363A |
probably benign |
Het |
Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,736,800 (GRCm39) |
F1085Y |
possibly damaging |
Het |
Drc7 |
T |
A |
8: 95,800,760 (GRCm39) |
F594Y |
possibly damaging |
Het |
Ehbp1l1 |
C |
A |
19: 5,768,277 (GRCm39) |
E1009* |
probably null |
Het |
Epg5 |
C |
A |
18: 78,028,316 (GRCm39) |
R1286S |
probably damaging |
Het |
Etv1 |
T |
C |
12: 38,885,060 (GRCm39) |
|
probably benign |
Het |
Exosc7 |
T |
C |
9: 122,964,956 (GRCm39) |
|
probably benign |
Het |
Fam227a |
T |
C |
15: 79,496,747 (GRCm39) |
D610G |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,033,923 (GRCm39) |
M2525K |
probably benign |
Het |
Gimap5 |
G |
T |
6: 48,729,999 (GRCm39) |
A190S |
probably damaging |
Het |
Glcci1 |
T |
A |
6: 8,579,596 (GRCm39) |
S79T |
probably damaging |
Het |
Gpnmb |
C |
T |
6: 49,024,384 (GRCm39) |
T233I |
probably null |
Het |
Hdac1-ps |
T |
C |
17: 78,799,558 (GRCm39) |
V183A |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,473,363 (GRCm39) |
I18V |
probably benign |
Het |
Ighv1-63 |
C |
T |
12: 115,459,274 (GRCm39) |
E108K |
probably damaging |
Het |
Ighv5-12 |
C |
A |
12: 113,665,927 (GRCm39) |
R57L |
probably damaging |
Het |
Igkv5-37 |
T |
C |
6: 69,940,323 (GRCm39) |
Y107C |
probably damaging |
Het |
Il20ra |
T |
A |
10: 19,631,591 (GRCm39) |
V264D |
probably damaging |
Het |
Jph1 |
A |
T |
1: 17,167,608 (GRCm39) |
V74E |
probably damaging |
Het |
Kcnab1 |
C |
T |
3: 65,265,695 (GRCm39) |
L280F |
probably damaging |
Het |
Kcnk1 |
T |
C |
8: 126,751,826 (GRCm39) |
F144S |
probably damaging |
Het |
Kcnq1 |
G |
A |
7: 142,738,241 (GRCm39) |
E294K |
possibly damaging |
Het |
Kdm4b |
T |
A |
17: 56,704,355 (GRCm39) |
V813E |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,949,439 (GRCm39) |
F1937I |
probably damaging |
Het |
Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,288,319 (GRCm39) |
N703S |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,688,032 (GRCm39) |
M227L |
possibly damaging |
Het |
Mbnl1 |
T |
A |
3: 60,520,940 (GRCm39) |
M268K |
possibly damaging |
Het |
Mcm2 |
C |
A |
6: 88,868,708 (GRCm39) |
G350C |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,082,599 (GRCm39) |
T1390S |
possibly damaging |
Het |
Npat |
T |
A |
9: 53,469,526 (GRCm39) |
|
probably benign |
Het |
Nr2e1 |
T |
A |
10: 42,443,969 (GRCm39) |
D251V |
possibly damaging |
Het |
Or1x2 |
A |
G |
11: 50,918,162 (GRCm39) |
N111S |
probably benign |
Het |
Or4d10 |
C |
T |
19: 12,051,421 (GRCm39) |
V192I |
probably benign |
Het |
Or5b107 |
C |
A |
19: 13,142,767 (GRCm39) |
P130T |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,470,621 (GRCm39) |
H87Q |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,529,256 (GRCm39) |
V368A |
probably damaging |
Het |
Psmb8 |
T |
A |
17: 34,419,168 (GRCm39) |
L154Q |
probably damaging |
Het |
Rab40c |
A |
C |
17: 26,103,644 (GRCm39) |
C140G |
probably damaging |
Het |
Ranbp17 |
G |
A |
11: 33,437,689 (GRCm39) |
T183I |
probably benign |
Het |
Ruvbl2 |
T |
C |
7: 45,078,122 (GRCm39) |
E117G |
probably damaging |
Het |
Serpinb3b |
T |
A |
1: 107,082,368 (GRCm39) |
M299L |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,678,530 (GRCm39) |
H111R |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,452,821 (GRCm39) |
P2843H |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,144,908 (GRCm39) |
T389A |
probably benign |
Het |
Synrg |
T |
A |
11: 83,910,531 (GRCm39) |
F1000Y |
probably benign |
Het |
Thbs2 |
C |
T |
17: 14,908,076 (GRCm39) |
S229N |
probably benign |
Het |
Thsd1 |
G |
A |
8: 22,742,247 (GRCm39) |
C305Y |
probably damaging |
Het |
Ticrr |
C |
A |
7: 79,344,297 (GRCm39) |
D1387E |
probably benign |
Het |
Tmem145 |
G |
T |
7: 25,010,816 (GRCm39) |
A383S |
probably damaging |
Het |
Tmprss4 |
A |
G |
9: 45,090,718 (GRCm39) |
V187A |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,600,524 (GRCm39) |
M1407L |
probably benign |
Het |
Vps39 |
C |
T |
2: 120,153,609 (GRCm39) |
G655D |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,482,241 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,930,397 (GRCm39) |
S1535P |
probably damaging |
Het |
|
Other mutations in Col20a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00781:Col20a1
|
APN |
2 |
180,645,272 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL00975:Col20a1
|
APN |
2 |
180,634,271 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01094:Col20a1
|
APN |
2 |
180,641,559 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01388:Col20a1
|
APN |
2 |
180,645,264 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01472:Col20a1
|
APN |
2 |
180,649,625 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02133:Col20a1
|
APN |
2 |
180,648,937 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02318:Col20a1
|
APN |
2 |
180,648,952 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02576:Col20a1
|
APN |
2 |
180,655,198 (GRCm39) |
nonsense |
probably null |
|
IGL02822:Col20a1
|
APN |
2 |
180,638,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02898:Col20a1
|
APN |
2 |
180,630,905 (GRCm39) |
nonsense |
probably null |
|
IGL03056:Col20a1
|
APN |
2 |
180,636,682 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03189:Col20a1
|
APN |
2 |
180,651,200 (GRCm39) |
nonsense |
probably null |
|
IGL03196:Col20a1
|
APN |
2 |
180,649,671 (GRCm39) |
splice site |
probably null |
|
R0001:Col20a1
|
UTSW |
2 |
180,626,205 (GRCm39) |
unclassified |
probably benign |
|
R0200:Col20a1
|
UTSW |
2 |
180,642,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R0384:Col20a1
|
UTSW |
2 |
180,640,955 (GRCm39) |
missense |
probably benign |
0.00 |
R0964:Col20a1
|
UTSW |
2 |
180,626,278 (GRCm39) |
unclassified |
probably benign |
|
R0975:Col20a1
|
UTSW |
2 |
180,648,619 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1359:Col20a1
|
UTSW |
2 |
180,641,585 (GRCm39) |
missense |
probably benign |
0.02 |
R1395:Col20a1
|
UTSW |
2 |
180,640,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R1470:Col20a1
|
UTSW |
2 |
180,636,753 (GRCm39) |
missense |
probably benign |
0.01 |
R1470:Col20a1
|
UTSW |
2 |
180,636,753 (GRCm39) |
missense |
probably benign |
0.01 |
R1508:Col20a1
|
UTSW |
2 |
180,634,370 (GRCm39) |
missense |
probably damaging |
0.98 |
R1865:Col20a1
|
UTSW |
2 |
180,657,606 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1883:Col20a1
|
UTSW |
2 |
180,634,703 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1884:Col20a1
|
UTSW |
2 |
180,634,703 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1906:Col20a1
|
UTSW |
2 |
180,640,490 (GRCm39) |
missense |
probably benign |
0.00 |
R2020:Col20a1
|
UTSW |
2 |
180,654,956 (GRCm39) |
critical splice donor site |
probably null |
|
R2121:Col20a1
|
UTSW |
2 |
180,638,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R2131:Col20a1
|
UTSW |
2 |
180,634,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R2343:Col20a1
|
UTSW |
2 |
180,643,124 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3153:Col20a1
|
UTSW |
2 |
180,650,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Col20a1
|
UTSW |
2 |
180,655,078 (GRCm39) |
nonsense |
probably null |
|
R3547:Col20a1
|
UTSW |
2 |
180,636,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R3844:Col20a1
|
UTSW |
2 |
180,634,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R3914:Col20a1
|
UTSW |
2 |
180,640,285 (GRCm39) |
missense |
probably benign |
0.00 |
R4414:Col20a1
|
UTSW |
2 |
180,643,043 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4711:Col20a1
|
UTSW |
2 |
180,634,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R4760:Col20a1
|
UTSW |
2 |
180,626,196 (GRCm39) |
unclassified |
probably benign |
|
R4771:Col20a1
|
UTSW |
2 |
180,630,917 (GRCm39) |
missense |
probably benign |
0.17 |
R4809:Col20a1
|
UTSW |
2 |
180,640,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Col20a1
|
UTSW |
2 |
180,639,156 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5045:Col20a1
|
UTSW |
2 |
180,648,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R5238:Col20a1
|
UTSW |
2 |
180,640,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Col20a1
|
UTSW |
2 |
180,628,316 (GRCm39) |
splice site |
probably null |
|
R6389:Col20a1
|
UTSW |
2 |
180,634,376 (GRCm39) |
splice site |
probably null |
|
R6422:Col20a1
|
UTSW |
2 |
180,656,612 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6924:Col20a1
|
UTSW |
2 |
180,638,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R6982:Col20a1
|
UTSW |
2 |
180,638,499 (GRCm39) |
missense |
probably benign |
0.00 |
R7177:Col20a1
|
UTSW |
2 |
180,636,007 (GRCm39) |
nonsense |
probably null |
|
R7195:Col20a1
|
UTSW |
2 |
180,649,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R7717:Col20a1
|
UTSW |
2 |
180,649,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R7872:Col20a1
|
UTSW |
2 |
180,628,371 (GRCm39) |
missense |
probably benign |
0.14 |
R8183:Col20a1
|
UTSW |
2 |
180,640,207 (GRCm39) |
missense |
|
|
R8188:Col20a1
|
UTSW |
2 |
180,658,126 (GRCm39) |
critical splice donor site |
probably null |
|
R8331:Col20a1
|
UTSW |
2 |
180,638,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8423:Col20a1
|
UTSW |
2 |
180,640,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R8803:Col20a1
|
UTSW |
2 |
180,643,131 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8849:Col20a1
|
UTSW |
2 |
180,640,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R8855:Col20a1
|
UTSW |
2 |
180,655,684 (GRCm39) |
missense |
|
|
R8885:Col20a1
|
UTSW |
2 |
180,640,296 (GRCm39) |
splice site |
probably benign |
|
R9160:Col20a1
|
UTSW |
2 |
180,641,538 (GRCm39) |
missense |
probably benign |
|
R9223:Col20a1
|
UTSW |
2 |
180,648,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R9697:Col20a1
|
UTSW |
2 |
180,641,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |