Incidental Mutation 'R0384:Col20a1'
| ID |
31147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
038590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0384 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180640955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 568
(Y568H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108856
AA Change: Y610H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: Y610H
| 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
AA Change: Y568H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: Y568H
| 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 benign
Transcript: ENSMUST00000228434
AA Change: Y568H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.7%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
A |
7: 139,566,725 (GRCm39) |
|
probably benign |
Het |
| Akr1b8 |
T |
C |
6: 34,341,265 (GRCm39) |
|
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,498,613 (GRCm39) |
L117P |
probably damaging |
Het |
| Atp13a1 |
A |
T |
8: 70,249,974 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,178,984 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,857,992 (GRCm39) |
V1063A |
probably damaging |
Het |
| Crabp2 |
T |
C |
3: 87,860,328 (GRCm39) |
V134A |
possibly damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,080,025 (GRCm39) |
K265E |
probably benign |
Het |
| Cyp2j9 |
T |
C |
4: 96,474,122 (GRCm39) |
H106R |
probably benign |
Het |
| Dcps |
T |
C |
9: 35,087,239 (GRCm39) |
K9R |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,456,153 (GRCm39) |
T47I |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,369,321 (GRCm39) |
S4315A |
possibly damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,888,571 (GRCm39) |
I158F |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,779,094 (GRCm39) |
|
probably benign |
Het |
| Eefsec |
A |
G |
6: 88,258,632 (GRCm39) |
|
probably null |
Het |
| Fam204a |
T |
C |
19: 60,209,728 (GRCm39) |
M1V |
probably null |
Het |
| Fam98b |
T |
C |
2: 117,098,328 (GRCm39) |
V266A |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,160,291 (GRCm39) |
I3274N |
possibly damaging |
Het |
| Fbh1 |
A |
G |
2: 11,754,389 (GRCm39) |
I198T |
probably damaging |
Het |
| Fer |
T |
C |
17: 64,231,179 (GRCm39) |
|
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,729,737 (GRCm39) |
M89L |
probably benign |
Het |
| Fjx1 |
C |
A |
2: 102,281,452 (GRCm39) |
C161F |
probably damaging |
Het |
| Fkbp7 |
T |
A |
2: 76,496,168 (GRCm39) |
|
probably benign |
Het |
| Gm42669 |
T |
A |
5: 107,656,664 (GRCm39) |
C976S |
probably benign |
Het |
| Gm4845 |
T |
C |
1: 141,184,823 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
A |
9: 66,388,332 (GRCm39) |
|
probably benign |
Het |
| Hook3 |
C |
T |
8: 26,534,263 (GRCm39) |
|
probably null |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,188 (GRCm39) |
|
probably null |
Het |
| Klk1b21 |
T |
C |
7: 43,754,917 (GRCm39) |
Y71H |
probably benign |
Het |
| Kndc1 |
A |
T |
7: 139,490,515 (GRCm39) |
N339I |
possibly damaging |
Het |
| Ky |
C |
T |
9: 102,419,289 (GRCm39) |
T432I |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,863,696 (GRCm39) |
T307I |
probably damaging |
Het |
| Matn1 |
T |
C |
4: 130,671,787 (GRCm39) |
L18P |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,193,669 (GRCm39) |
D121N |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Msto1 |
G |
A |
3: 88,817,646 (GRCm39) |
Q441* |
probably null |
Het |
| Muc5ac |
A |
G |
7: 141,365,988 (GRCm39) |
H2048R |
possibly damaging |
Het |
| Musk |
T |
C |
4: 58,373,711 (GRCm39) |
*879Q |
probably null |
Het |
| Nat8f2 |
T |
C |
6: 85,845,350 (GRCm39) |
Y4C |
possibly damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,638,421 (GRCm39) |
T114A |
probably benign |
Het |
| Npr1 |
C |
A |
3: 90,372,474 (GRCm39) |
G113C |
probably damaging |
Het |
| Nrxn1 |
G |
A |
17: 90,515,775 (GRCm39) |
P193S |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,963,025 (GRCm39) |
F870L |
probably benign |
Het |
| Or10h1b |
A |
G |
17: 33,395,522 (GRCm39) |
I45V |
probably damaging |
Het |
| Or4c122 |
A |
G |
2: 89,079,414 (GRCm39) |
I208T |
possibly damaging |
Het |
| Or6c5c |
T |
A |
10: 129,298,909 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k30 |
T |
A |
2: 86,339,727 (GRCm39) |
I308K |
possibly damaging |
Het |
| Phf14 |
A |
G |
6: 11,997,019 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,862,258 (GRCm39) |
E344G |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,376,547 (GRCm39) |
V61A |
probably benign |
Het |
| Relt |
T |
C |
7: 100,496,712 (GRCm39) |
D385G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,266 (GRCm39) |
I446F |
probably benign |
Het |
| Sema3b |
G |
A |
9: 107,478,165 (GRCm39) |
L407F |
probably damaging |
Het |
| Slc25a13 |
A |
T |
6: 6,042,600 (GRCm39) |
Y601* |
probably null |
Het |
| Sun5 |
C |
T |
2: 153,700,885 (GRCm39) |
V270I |
probably benign |
Het |
| Tex52 |
A |
G |
6: 128,356,496 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tmem138 |
A |
G |
19: 10,552,186 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
A |
G |
6: 29,582,163 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
T |
11: 87,657,280 (GRCm39) |
Q364L |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,599,811 (GRCm39) |
L1037P |
probably damaging |
Het |
| Ugcg |
T |
A |
4: 59,220,387 (GRCm39) |
D393E |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,967,076 (GRCm39) |
I274T |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,200,871 (GRCm39) |
V362A |
probably benign |
Het |
| Vmn2r87 |
T |
A |
10: 130,307,712 (GRCm39) |
Y842F |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,325,575 (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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGCTCTAAGTGGGAGACCACAG -3'
(R):5'- GCCTCAGCATGGACATTCTGCATC -3'
Sequencing Primer
(F):5'- GATAACCCTGGATGACCCATATGC -3'
(R):5'- gtgtgtctttgcttcgaacc -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation