Incidental Mutation 'R6982:Col20a1'
| ID |
542713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
045383-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6982 (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 180638499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 371
(V371A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108856
AA Change: V413A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: V413A
| 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: V371A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: V371A
| 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: V371A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,916,639 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
C |
A |
7: 82,164,271 (GRCm39) |
P362H |
probably damaging |
Het |
| Ambra1 |
G |
A |
2: 91,747,818 (GRCm39) |
V1065I |
probably damaging |
Het |
| Ankrd66 |
T |
C |
17: 43,849,926 (GRCm39) |
T79A |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,969,856 (GRCm39) |
R724H |
probably benign |
Het |
| Bmp8a |
A |
G |
4: 123,218,934 (GRCm39) |
L158P |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,087 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Clybl |
G |
A |
14: 122,639,359 (GRCm39) |
G308R |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,399,247 (GRCm39) |
P367S |
possibly damaging |
Het |
| Col24a1 |
G |
T |
3: 145,020,807 (GRCm39) |
G393* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,521,033 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,986,899 (GRCm39) |
S3183T |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,746,993 (GRCm39) |
I435N |
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,322,300 (GRCm39) |
A107D |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,343,645 (GRCm38) |
Q367K |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,335,846 (GRCm39) |
D182G |
probably damaging |
Het |
| Gpr162 |
T |
A |
6: 124,837,919 (GRCm39) |
I244F |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,282,285 (GRCm39) |
N159I |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,527 (GRCm39) |
Y7* |
probably null |
Het |
| Kdm4a |
A |
T |
4: 118,010,636 (GRCm39) |
|
probably null |
Het |
| Klf5 |
A |
G |
14: 99,550,671 (GRCm39) |
H416R |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,211 (GRCm39) |
V631A |
probably benign |
Het |
| Man1a |
T |
C |
10: 53,950,819 (GRCm39) |
E101G |
possibly damaging |
Het |
| Msantd4 |
T |
A |
9: 4,384,061 (GRCm39) |
N127K |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,256,409 (GRCm39) |
E1248D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,699 (GRCm39) |
I672N |
probably damaging |
Het |
| Nfic |
T |
C |
10: 81,256,634 (GRCm39) |
|
probably null |
Het |
| Nr1h3 |
A |
G |
2: 91,021,104 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,618 (GRCm39) |
I174T |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,905,349 (GRCm39) |
|
probably null |
Het |
| Pcmtd1 |
T |
G |
1: 7,217,906 (GRCm39) |
V118G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,429,664 (GRCm39) |
N3294I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,364,796 (GRCm39) |
T74A |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,442,803 (GRCm39) |
I540N |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,283,556 (GRCm39) |
T218K |
probably benign |
Het |
| Slc16a4 |
A |
G |
3: 107,206,589 (GRCm39) |
D173G |
probably benign |
Het |
| Slc19a2 |
T |
C |
1: 164,084,428 (GRCm39) |
L106P |
possibly damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,660,334 (GRCm39) |
V359M |
probably benign |
Het |
| Slc22a7 |
T |
A |
17: 46,745,563 (GRCm39) |
M323L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,824,184 (GRCm39) |
N149I |
possibly damaging |
Het |
| Spink5 |
G |
A |
18: 44,110,792 (GRCm39) |
G121D |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,143,109 (GRCm39) |
|
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,060,815 (GRCm39) |
S6G |
possibly damaging |
Het |
| Sytl2 |
T |
C |
7: 90,045,772 (GRCm39) |
S641P |
probably damaging |
Het |
| Tcf3 |
A |
T |
10: 80,253,384 (GRCm39) |
F215I |
probably damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,680 (GRCm39) |
D61Y |
probably benign |
Het |
| Ttc7 |
T |
A |
17: 87,614,437 (GRCm39) |
F201I |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,285,867 (GRCm39) |
I208V |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,917 (GRCm39) |
T167A |
probably benign |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,763 (GRCm39) |
L98Q |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,323 (GRCm39) |
Y687H |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,187,445 (GRCm39) |
F783L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,890 (GRCm39) |
Y3016C |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,248 (GRCm39) |
T586A |
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 |
|
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'- CTGCTCAGCCGACTCATTTG -3'
(R):5'- CAAGGATGGTCTCAGCAGAG -3'
Sequencing Primer
(F):5'- GGCCCAGGTAAGAACACAGC -3'
(R):5'- AGGCTGAACCAGGGGACC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation