Incidental Mutation 'R1395:Col20a1'
| ID |
162788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
039457-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1395 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180640400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 519
(V519E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108856
AA Change: V561E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: V561E
| 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 damaging
Transcript: ENSMUST00000149179
AA Change: V519E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: V519E
| 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 |
possibly damaging
Transcript: ENSMUST00000228434
AA Change: V519E
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.5353 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,249,362 (GRCm39) |
Y122H |
probably damaging |
Het |
| A330070K13Rik |
A |
G |
5: 130,407,982 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,822,379 (GRCm39) |
R1406G |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,534,907 (GRCm39) |
T5786K |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,315,294 (GRCm39) |
F481S |
possibly damaging |
Het |
| Arhgap11a |
C |
T |
2: 113,663,467 (GRCm39) |
V939I |
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,037,058 (GRCm39) |
N561S |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,917,166 (GRCm39) |
H391R |
probably damaging |
Het |
| Asb3 |
T |
C |
11: 31,051,032 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,007,464 (GRCm39) |
|
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,533,412 (GRCm39) |
K44R |
possibly damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,754 (GRCm39) |
R438Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,991,992 (GRCm39) |
T1957A |
probably damaging |
Het |
| Cylc2 |
A |
G |
4: 51,228,366 (GRCm39) |
K146E |
possibly damaging |
Het |
| Drgx |
C |
T |
14: 32,330,326 (GRCm39) |
P148S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
| Eef1a1 |
C |
T |
9: 78,386,300 (GRCm39) |
V402I |
probably benign |
Het |
| Esyt3 |
T |
C |
9: 99,198,835 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,314,945 (GRCm39) |
V79A |
possibly damaging |
Het |
| Fat3 |
C |
T |
9: 16,158,212 (GRCm39) |
V1133I |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
| Fdxacb1 |
TAGAC |
T |
9: 50,683,796 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
| Gm8374 |
G |
T |
14: 18,537,058 (GRCm39) |
N55K |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,174,392 (GRCm39) |
I558N |
probably damaging |
Het |
| Gse1 |
G |
T |
8: 121,301,738 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,466,576 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,346,463 (GRCm39) |
I1943T |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,442,582 (GRCm39) |
|
probably benign |
Het |
| Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
| Lactb |
T |
C |
9: 66,878,661 (GRCm39) |
|
probably benign |
Het |
| Map1a |
C |
T |
2: 121,134,406 (GRCm39) |
H1741Y |
probably benign |
Het |
| Map1lc3b |
T |
C |
8: 122,323,459 (GRCm39) |
Y110H |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,076,445 (GRCm39) |
D304G |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,894,798 (GRCm39) |
|
probably null |
Het |
| Neto1 |
T |
C |
18: 86,416,144 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,426,809 (GRCm39) |
V1741A |
possibly damaging |
Het |
| Nkain2 |
C |
A |
10: 32,766,185 (GRCm39) |
|
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
| Or51ah3 |
T |
C |
7: 103,210,326 (GRCm39) |
L214P |
possibly damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,414 (GRCm39) |
C243Y |
possibly damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
| Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
| Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
| Ralgapa2 |
T |
G |
2: 146,230,420 (GRCm39) |
K963N |
probably damaging |
Het |
| Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
| Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
| Sag |
G |
A |
1: 87,756,163 (GRCm39) |
V257I |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,657,721 (GRCm39) |
E386G |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,143,630 (GRCm39) |
E1055G |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
| Tgm2 |
T |
A |
2: 157,966,172 (GRCm39) |
H494L |
probably benign |
Het |
| Tub |
C |
T |
7: 108,620,161 (GRCm39) |
R102* |
probably null |
Het |
| Ugt3a1 |
T |
G |
15: 9,306,378 (GRCm39) |
L176V |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
| Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
| Wdr87-ps |
T |
A |
7: 29,230,812 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp322a |
C |
T |
13: 23,540,945 (GRCm39) |
V266I |
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,194,492 (GRCm39) |
R576G |
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 |
|
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'- AGTACTTGCTGGCTACCTCCACTG -3'
(R):5'- CTGTGGTCTCCCACTTAGAGCAAAG -3'
Sequencing Primer
(F):5'- ggggaggagcaaaagagag -3'
(R):5'- tcacctaaagccatccaaacc -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation