Incidental Mutation 'R5238:Col20a1'
ID |
486800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col20a1
|
Ensembl Gene |
ENSMUSG00000016356 |
Gene Name |
collagen, type XX, alpha 1 |
Synonyms |
1700051I12Rik |
MMRRC Submission |
042809-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5238 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 180640379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 512
(V512A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
AlphaFold |
Q923P0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108856
AA Change: V554A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104484 Gene: ENSMUSG00000016356 AA Change: V554A
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 |
possibly damaging
Transcript: ENSMUST00000149179
AA Change: V512A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115291 Gene: ENSMUSG00000016356 AA Change: V512A
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 damaging
Transcript: ENSMUST00000228434
AA Change: V512A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12b |
T |
A |
12: 70,210,142 (GRCm39) |
|
probably null |
Het |
Adamtsl5 |
C |
T |
10: 80,181,192 (GRCm39) |
G63D |
probably damaging |
Het |
Armc9 |
T |
A |
1: 86,127,569 (GRCm39) |
M68K |
probably benign |
Het |
Atad2 |
A |
C |
15: 57,971,733 (GRCm39) |
H381Q |
possibly damaging |
Het |
Bclaf1 |
T |
G |
10: 20,208,130 (GRCm39) |
|
probably benign |
Het |
Ccdc188 |
A |
G |
16: 18,037,038 (GRCm39) |
E238G |
probably damaging |
Het |
Cldn19 |
G |
T |
4: 119,112,930 (GRCm39) |
C54F |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
Cyfip1 |
G |
T |
7: 55,541,779 (GRCm39) |
A355S |
probably benign |
Het |
Dffa |
T |
G |
4: 149,188,760 (GRCm39) |
L18R |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,009,891 (GRCm39) |
E3761K |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,769,210 (GRCm39) |
T59A |
possibly damaging |
Het |
Eed |
T |
C |
7: 89,626,173 (GRCm39) |
S67G |
probably benign |
Het |
Fam181a |
C |
T |
12: 103,282,392 (GRCm39) |
A99V |
probably benign |
Het |
Gm12185 |
G |
A |
11: 48,799,044 (GRCm39) |
T483I |
possibly damaging |
Het |
Htr3b |
A |
T |
9: 48,848,542 (GRCm39) |
C234* |
probably null |
Het |
Kidins220 |
C |
A |
12: 25,053,009 (GRCm39) |
T433K |
probably benign |
Het |
Man2a1 |
T |
C |
17: 64,943,502 (GRCm39) |
Y186H |
probably damaging |
Het |
Mcm9 |
G |
T |
10: 53,506,093 (GRCm39) |
S60R |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,784,773 (GRCm39) |
C144S |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,955,461 (GRCm39) |
C364R |
probably damaging |
Het |
Nptx2 |
T |
C |
5: 144,493,041 (GRCm39) |
I376T |
probably damaging |
Het |
Or2a14 |
T |
C |
6: 43,130,961 (GRCm39) |
S241P |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,604,834 (GRCm39) |
C2191S |
probably damaging |
Het |
Plxdc2 |
T |
A |
2: 16,655,026 (GRCm39) |
F208L |
probably damaging |
Het |
Robo3 |
A |
C |
9: 37,328,175 (GRCm39) |
Y1339D |
probably damaging |
Het |
Rsph9 |
G |
T |
17: 46,446,008 (GRCm39) |
Y42* |
probably null |
Het |
Slc39a1 |
T |
A |
3: 90,156,702 (GRCm39) |
L86Q |
probably null |
Het |
Slfn8 |
T |
C |
11: 82,904,214 (GRCm39) |
D392G |
probably damaging |
Het |
Tiprl |
A |
G |
1: 165,043,337 (GRCm39) |
V263A |
probably benign |
Het |
Tmub2 |
A |
G |
11: 102,175,820 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
A |
7: 63,918,702 (GRCm39) |
F681I |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Uba3 |
A |
T |
6: 97,178,896 (GRCm39) |
C68* |
probably null |
Het |
Vmn1r158 |
T |
A |
7: 22,489,799 (GRCm39) |
M137L |
probably benign |
Het |
Vmn1r50 |
C |
T |
6: 90,084,465 (GRCm39) |
A70V |
possibly damaging |
Het |
Wwc1 |
T |
C |
11: 35,766,723 (GRCm39) |
K511E |
probably benign |
Het |
Zfp600 |
T |
C |
4: 146,131,741 (GRCm39) |
|
probably null |
Het |
Zng1 |
G |
T |
19: 24,897,994 (GRCm39) |
T382K |
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 |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAACTCTCCACGTCACCTG -3'
(R):5'- AGGGTTATCTGTGGTCTCCC -3'
Sequencing Primer
(F):5'- GTCACCTGGCCGCCCTC -3'
(R):5'- TGGGAATTGAATGACTCCCC -3'
|
Posted On |
2017-08-17 |