Incidental Mutation 'IGL03196:Col20a1'
ID |
412840 |
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 # |
IGL03196
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 180649671 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 null
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 null
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: ENSMUST00000152473
|
Predicted Effect |
probably null
Transcript: ENSMUST00000228434
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
T |
C |
6: 83,138,045 (GRCm39) |
V57A |
probably damaging |
Het |
Adck1 |
T |
C |
12: 88,397,885 (GRCm39) |
V173A |
probably damaging |
Het |
Adgrv1 |
C |
A |
13: 81,594,597 (GRCm39) |
R4139L |
probably benign |
Het |
Aqp4 |
T |
G |
18: 15,526,566 (GRCm39) |
D305A |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,710,675 (GRCm39) |
S193P |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,340 (GRCm39) |
S377P |
possibly damaging |
Het |
Clic5 |
C |
A |
17: 44,552,960 (GRCm39) |
H71Q |
possibly damaging |
Het |
Col5a1 |
A |
G |
2: 27,865,610 (GRCm39) |
D759G |
unknown |
Het |
Cplane1 |
A |
T |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,308,598 (GRCm39) |
V110A |
probably benign |
Het |
Cts8 |
C |
T |
13: 61,401,272 (GRCm39) |
G85S |
probably benign |
Het |
Cul5 |
T |
A |
9: 53,537,180 (GRCm39) |
M551L |
probably damaging |
Het |
Eno1b |
T |
A |
18: 48,180,558 (GRCm39) |
D245E |
probably damaging |
Het |
Fgf1 |
A |
T |
18: 38,975,028 (GRCm39) |
Y140* |
probably null |
Het |
Flt1 |
A |
G |
5: 147,551,937 (GRCm39) |
|
probably null |
Het |
Fndc7 |
A |
G |
3: 108,790,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Gm3127 |
A |
T |
14: 15,432,259 (GRCm39) |
M254L |
probably benign |
Het |
Gm5849 |
T |
C |
3: 90,685,089 (GRCm39) |
E32G |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,104,241 (GRCm39) |
|
probably benign |
Het |
H2ap |
A |
G |
X: 9,713,349 (GRCm39) |
Q27R |
possibly damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,400,607 (GRCm39) |
V125A |
probably benign |
Het |
Igkv6-32 |
C |
T |
6: 70,051,042 (GRCm39) |
V105I |
probably benign |
Het |
Lmo3 |
T |
C |
6: 138,342,993 (GRCm39) |
T140A |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,958,123 (GRCm39) |
V793A |
possibly damaging |
Het |
Mep1b |
A |
C |
18: 21,228,121 (GRCm39) |
I575L |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,491,609 (GRCm39) |
I155N |
possibly damaging |
Het |
Muc2 |
T |
C |
7: 141,301,367 (GRCm39) |
F361L |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,523,510 (GRCm39) |
|
probably benign |
Het |
Nme6 |
C |
T |
9: 109,670,561 (GRCm39) |
R71W |
probably damaging |
Het |
Or56b1b |
T |
C |
7: 108,164,061 (GRCm39) |
S314G |
probably benign |
Het |
Or9g4b |
G |
A |
2: 85,616,365 (GRCm39) |
G170D |
possibly damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,826 (GRCm39) |
I124F |
possibly damaging |
Het |
Osbpl9 |
C |
T |
4: 108,930,061 (GRCm39) |
V357I |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,015,913 (GRCm39) |
|
probably benign |
Het |
Rnf216 |
T |
C |
5: 143,066,766 (GRCm39) |
R474G |
probably damaging |
Het |
Rpp25l |
A |
G |
4: 41,712,541 (GRCm39) |
V78A |
possibly damaging |
Het |
Sh3bp2 |
C |
A |
5: 34,714,687 (GRCm39) |
P245Q |
probably damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,151 (GRCm39) |
F154S |
possibly damaging |
Het |
Wasf2 |
T |
A |
4: 132,921,732 (GRCm39) |
S284T |
unknown |
Het |
Wdtc1 |
T |
C |
4: 133,022,648 (GRCm39) |
E566G |
probably damaging |
Het |
Zcchc14 |
C |
T |
8: 122,335,877 (GRCm39) |
|
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 |
IGL03189:Col20a1
|
APN |
2 |
180,651,200 (GRCm39) |
nonsense |
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 |