Incidental Mutation 'IGL03189:Col20a1'
ID |
412586 |
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 # |
IGL03189
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 180651200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1089
(Q1089*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
AlphaFold |
Q923P0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000108856
AA Change: Q1131*
|
SMART Domains |
Protein: ENSMUSP00000104484 Gene: ENSMUSG00000016356 AA Change: Q1131*
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 null
Transcript: ENSMUST00000149179
AA Change: Q1089*
|
SMART Domains |
Protein: ENSMUSP00000115291 Gene: ENSMUSG00000016356 AA Change: Q1089*
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 null
Transcript: ENSMUST00000228434
AA Change: Q1089*
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,895,814 (GRCm39) |
T916A |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,161,897 (GRCm39) |
Y50* |
probably null |
Het |
Adprs |
T |
C |
4: 126,211,087 (GRCm39) |
|
probably benign |
Het |
Ahnak |
G |
A |
19: 8,988,603 (GRCm39) |
V3296M |
possibly damaging |
Het |
Bfar |
A |
G |
16: 13,505,365 (GRCm39) |
D125G |
possibly damaging |
Het |
Bmp3 |
A |
T |
5: 99,020,579 (GRCm39) |
Q334L |
probably benign |
Het |
Camsap2 |
A |
T |
1: 136,209,400 (GRCm39) |
D697E |
probably damaging |
Het |
Car11 |
A |
G |
7: 45,351,879 (GRCm39) |
T103A |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,739,391 (GRCm39) |
S1373T |
probably benign |
Het |
Cenpm |
A |
G |
15: 82,118,634 (GRCm39) |
V160A |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,660,168 (GRCm39) |
I365F |
possibly damaging |
Het |
Csf1r |
A |
T |
18: 61,239,058 (GRCm39) |
T13S |
probably benign |
Het |
Fam13a |
T |
C |
6: 58,933,843 (GRCm39) |
E249G |
probably damaging |
Het |
Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,362,368 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
T |
C |
11: 121,320,456 (GRCm39) |
I267T |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,890,930 (GRCm39) |
I2820F |
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,872,939 (GRCm39) |
I771V |
probably damaging |
Het |
Gata3os |
A |
G |
2: 9,888,634 (GRCm39) |
|
probably benign |
Het |
Glis1 |
A |
G |
4: 107,472,248 (GRCm39) |
Y275C |
probably damaging |
Het |
Hdgf |
A |
G |
3: 87,820,735 (GRCm39) |
T62A |
possibly damaging |
Het |
Hsd17b3 |
C |
T |
13: 64,210,901 (GRCm39) |
|
probably null |
Het |
Ift56 |
C |
T |
6: 38,402,166 (GRCm39) |
P553S |
probably benign |
Het |
Iqgap1 |
T |
A |
7: 80,363,590 (GRCm39) |
Y1655F |
probably benign |
Het |
Izumo1 |
A |
G |
7: 45,274,588 (GRCm39) |
D181G |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,268,822 (GRCm39) |
|
probably benign |
Het |
Mark1 |
T |
C |
1: 184,651,890 (GRCm39) |
N95S |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,147,763 (GRCm39) |
K658E |
probably damaging |
Het |
Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,435,504 (GRCm39) |
D187G |
probably benign |
Het |
Mrpl19 |
G |
T |
6: 81,938,974 (GRCm39) |
S276* |
probably null |
Het |
Ncoa2 |
G |
A |
1: 13,260,360 (GRCm39) |
T105M |
probably damaging |
Het |
Nop14 |
A |
G |
5: 34,807,972 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
A |
G |
2: 85,653,902 (GRCm39) |
T196A |
probably benign |
Het |
Or2aj5 |
T |
C |
16: 19,425,341 (GRCm39) |
T26A |
probably benign |
Het |
Or5w19 |
G |
A |
2: 87,698,559 (GRCm39) |
A75T |
possibly damaging |
Het |
Otud7b |
G |
A |
3: 96,062,795 (GRCm39) |
S678N |
probably benign |
Het |
Pcdhb6 |
G |
A |
18: 37,469,205 (GRCm39) |
V25M |
probably damaging |
Het |
Prpf39 |
G |
T |
12: 65,090,076 (GRCm39) |
G5* |
probably null |
Het |
Serpinb9d |
T |
C |
13: 33,386,895 (GRCm39) |
V321A |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,067,702 (GRCm39) |
S613P |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,857,452 (GRCm39) |
I55T |
probably benign |
Het |
Spata13 |
T |
C |
14: 60,929,063 (GRCm39) |
I207T |
possibly damaging |
Het |
Suco |
T |
C |
1: 161,684,906 (GRCm39) |
|
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,032 (GRCm39) |
S292P |
possibly damaging |
Het |
Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
Tmem45a |
A |
T |
16: 56,631,936 (GRCm39) |
Y227* |
probably null |
Het |
Tnfsf15 |
A |
G |
4: 63,648,289 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,296,589 (GRCm39) |
R732L |
possibly damaging |
Het |
Wdr7 |
C |
T |
18: 63,893,672 (GRCm39) |
T602I |
probably benign |
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 |
IGL01936:Col20a1
|
APN |
2 |
180,651,161 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2016-08-02 |