Incidental Mutation 'R8803:Col20a1'
| ID |
671604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
068640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 180643131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 867
(R867L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108856
AA Change: R867L
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: R867L
| 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: R825L
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: R825L
| 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: R825L
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,998,290 (GRCm39) |
S431T |
probably benign |
Het |
| Acot7 |
T |
G |
4: 152,302,272 (GRCm39) |
V128G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,691 (GRCm39) |
D508G |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,137,878 (GRCm39) |
I321V |
probably benign |
Het |
| Ak1 |
T |
C |
2: 32,523,490 (GRCm39) |
V186A |
probably benign |
Het |
| Aldh3a2 |
A |
G |
11: 61,139,756 (GRCm39) |
F459L |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,875,721 (GRCm39) |
L256P |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,903,999 (GRCm39) |
E162G |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,959,033 (GRCm39) |
Q3850R |
probably damaging |
Het |
| Btf3l4 |
T |
G |
4: 108,689,084 (GRCm39) |
|
probably benign |
Het |
| Btla |
A |
G |
16: 45,059,430 (GRCm39) |
T45A |
probably benign |
Het |
| Cad |
T |
G |
5: 31,226,908 (GRCm39) |
S1222A |
probably damaging |
Het |
| Cbarp |
A |
G |
10: 79,972,976 (GRCm39) |
V39A |
possibly damaging |
Het |
| Cct2 |
A |
C |
10: 116,894,090 (GRCm39) |
D221E |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,177,991 (GRCm39) |
D3621G |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,718,802 (GRCm39) |
V164A |
probably benign |
Het |
| Crygf |
A |
G |
1: 65,967,148 (GRCm39) |
R91G |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,440,477 (GRCm39) |
S3181T |
|
Het |
| Cyb5r1 |
G |
T |
1: 134,333,696 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,070,383 (GRCm39) |
I429F |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,475,816 (GRCm39) |
T864A |
probably benign |
Het |
| Eea1 |
A |
T |
10: 95,859,853 (GRCm39) |
D713V |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,829,160 (GRCm39) |
C9Y |
probably damaging |
Het |
| Gga2 |
A |
C |
7: 121,597,002 (GRCm39) |
D371E |
probably benign |
Het |
| Gtpbp6 |
A |
T |
5: 110,255,186 (GRCm39) |
V2E |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,461,994 (GRCm39) |
M954L |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,610,248 (GRCm39) |
C1474R |
probably damaging |
Het |
| Igkv1-99 |
G |
T |
6: 68,519,370 (GRCm39) |
G109V |
|
Het |
| Izumo3 |
T |
C |
4: 92,033,310 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
T |
C |
11: 5,144,981 (GRCm39) |
D465G |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 79,036,882 (GRCm39) |
E75G |
probably benign |
Het |
| Mmp17 |
G |
T |
5: 129,675,773 (GRCm39) |
E311* |
probably null |
Het |
| Mmrn1 |
T |
A |
6: 60,965,271 (GRCm39) |
F1101I |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,633,287 (GRCm39) |
|
probably benign |
Het |
| Myl4 |
T |
A |
11: 104,475,403 (GRCm39) |
M147K |
probably damaging |
Het |
| Myo1a |
T |
A |
10: 127,546,856 (GRCm39) |
N334K |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,083,338 (GRCm39) |
S664P |
probably benign |
Het |
| Nptxr |
T |
C |
15: 79,678,655 (GRCm39) |
N211D |
probably damaging |
Het |
| Ntf5 |
A |
G |
7: 45,065,485 (GRCm39) |
T206A |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,945,229 (GRCm39) |
E4596D |
probably benign |
Het |
| Or4d10c |
T |
C |
19: 12,065,469 (GRCm39) |
E229G |
probably benign |
Het |
| Or4f14d |
T |
C |
2: 111,960,427 (GRCm39) |
H243R |
probably damaging |
Het |
| Or5ak20 |
T |
A |
2: 85,184,078 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,037 (GRCm39) |
I35F |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,462 (GRCm39) |
I151N |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,749,273 (GRCm39) |
N114D |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,039,925 (GRCm39) |
S2071P |
possibly damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,637,870 (GRCm39) |
T369A |
probably damaging |
Het |
| Ppp1r12b |
A |
C |
1: 134,818,492 (GRCm39) |
|
probably benign |
Het |
| Ppp1r35 |
T |
A |
5: 137,777,731 (GRCm39) |
D132E |
possibly damaging |
Het |
| Pramel7 |
A |
T |
2: 87,320,405 (GRCm39) |
V296E |
probably benign |
Het |
| Prh1 |
C |
T |
6: 132,548,948 (GRCm39) |
P152S |
unknown |
Het |
| Pygl |
T |
C |
12: 70,242,390 (GRCm39) |
T689A |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,369,269 (GRCm39) |
S450G |
probably benign |
Het |
| Rtn4ip1 |
G |
T |
10: 43,783,842 (GRCm39) |
R121L |
probably damaging |
Het |
| Scarf2 |
A |
T |
16: 17,620,695 (GRCm39) |
H121L |
probably damaging |
Het |
| Selenbp1 |
C |
A |
3: 94,851,821 (GRCm39) |
A454E |
possibly damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,163,143 (GRCm39) |
I449M |
possibly damaging |
Het |
| Snapc2 |
C |
T |
8: 4,305,558 (GRCm39) |
H278Y |
probably damaging |
Het |
| Stambp |
C |
T |
6: 83,524,212 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,311,535 (GRCm39) |
Y550C |
probably damaging |
Het |
| Tas2r113 |
T |
C |
6: 132,870,104 (GRCm39) |
V44A |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,772,816 (GRCm39) |
T305A |
probably benign |
Het |
| Twf1 |
T |
C |
15: 94,479,136 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,389 (GRCm39) |
K212E |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,676,998 (GRCm39) |
H4770L |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,247,800 (GRCm39) |
V1001A |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,751,290 (GRCm39) |
R92Q |
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 |
|
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 |
|
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'- CAGCAGCTTCTTTGTGGAGG -3'
(R):5'- ATGTCACTGGTTCTGGTGCC -3'
Sequencing Primer
(F):5'- CAGCTTCTTTGTGGAGGGAAAG -3'
(R):5'- CTGGTGCCTCACTGAATCTGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation