Incidental Mutation 'R8183:Col20a1'
| ID |
634715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
067781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180640207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 483
(V483A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: V483A
| 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: V483A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: V483A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
T |
A |
15: 72,991,337 (GRCm39) |
K534* |
probably null |
Het |
| Art1 |
A |
T |
7: 101,756,633 (GRCm39) |
I275F |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,116,918 (GRCm39) |
N233S |
probably damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,786,373 (GRCm39) |
I272L |
probably benign |
Het |
| Bpifa1 |
A |
G |
2: 153,988,039 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,768,879 (GRCm39) |
E563G |
probably benign |
Het |
| Clns1a |
A |
G |
7: 97,354,888 (GRCm39) |
Y78C |
probably damaging |
Het |
| Col3a1 |
C |
G |
1: 45,373,970 (GRCm39) |
P621R |
unknown |
Het |
| Cst9 |
G |
A |
2: 148,678,634 (GRCm39) |
R88H |
possibly damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,428 (GRCm39) |
Y513H |
probably damaging |
Het |
| Dcdc2a |
T |
C |
13: 25,291,633 (GRCm39) |
F206S |
possibly damaging |
Het |
| Dgkz |
C |
A |
2: 91,769,937 (GRCm39) |
G576C |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,394,814 (GRCm39) |
F575L |
probably damaging |
Het |
| Ftcd |
T |
A |
10: 76,411,541 (GRCm39) |
M1K |
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,689 (GRCm39) |
D1044G |
unknown |
Het |
| Gzmc |
A |
T |
14: 56,470,164 (GRCm39) |
M111K |
probably damaging |
Het |
| Hpse |
T |
A |
5: 100,832,984 (GRCm39) |
Y437F |
probably damaging |
Het |
| Ifi203 |
A |
G |
1: 173,756,266 (GRCm39) |
S506P |
unknown |
Het |
| Igsf10 |
A |
T |
3: 59,238,036 (GRCm39) |
I715K |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,273,902 (GRCm39) |
V569A |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,433 (GRCm39) |
F821S |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,533,321 (GRCm39) |
H1186R |
probably damaging |
Het |
| Krt33a |
A |
G |
11: 99,905,575 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
A |
T |
8: 36,689,819 (GRCm39) |
M718K |
possibly damaging |
Het |
| Mefv |
C |
T |
16: 3,526,446 (GRCm39) |
R756K |
possibly damaging |
Het |
| Metap1d |
T |
A |
2: 71,337,207 (GRCm39) |
F40Y |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,092,832 (GRCm39) |
D42V |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,773,843 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,460,186 (GRCm39) |
S2241P |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,086 (GRCm39) |
Y127N |
probably damaging |
Het |
| Osbpl3 |
C |
A |
6: 50,280,089 (GRCm39) |
R710L |
probably benign |
Het |
| Osbpl6 |
C |
T |
2: 76,415,404 (GRCm39) |
R589C |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,762,199 (GRCm39) |
T795A |
probably benign |
Het |
| Patj |
A |
C |
4: 98,562,466 (GRCm39) |
E1534D |
probably damaging |
Het |
| Plscr5 |
A |
G |
9: 92,080,655 (GRCm39) |
Q47R |
probably benign |
Het |
| Ppil1 |
A |
T |
17: 29,481,053 (GRCm39) |
|
probably null |
Het |
| Sec23b |
G |
T |
2: 144,401,189 (GRCm39) |
V17L |
probably benign |
Het |
| Serpina3j |
C |
A |
12: 104,284,754 (GRCm39) |
Y310* |
probably null |
Het |
| Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
| Snrpn |
A |
G |
7: 59,634,830 (GRCm39) |
Y168H |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,884,400 (GRCm39) |
D94G |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,558,758 (GRCm39) |
M724K |
probably damaging |
Het |
| Trappc11 |
T |
G |
8: 47,982,391 (GRCm39) |
E116A |
possibly damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,150 (GRCm39) |
F652S |
possibly damaging |
Het |
| Trrap |
T |
G |
5: 144,765,343 (GRCm39) |
S2501A |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,209,782 (GRCm39) |
S5005A |
unknown |
Het |
| Urah |
A |
T |
7: 140,416,707 (GRCm39) |
Q60L |
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,491,147 (GRCm39) |
C367S |
probably damaging |
Het |
| Zmym1 |
T |
C |
4: 126,952,649 (GRCm39) |
D44G |
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 |
|
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 |
|
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'- ACACGTGACTTAGAGTCCTGTAC -3'
(R):5'- TCAGGCTGTCCCACATGTAC -3'
Sequencing Primer
(F):5'- ACTCTGGATGGTGGTTGCCTAC -3'
(R):5'- TGTCCCACATGTACCTGGCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation