Incidental Mutation 'R4711:Col20a1'
| ID |
353255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 180634284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 83
(G83A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108856
AA Change: G83A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: G83A
| 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: G83A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: G83A
| 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 |
possibly damaging
Transcript: ENSMUST00000228434
AA Change: G83A
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,366,288 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,288,910 (GRCm39) |
N358D |
possibly damaging |
Het |
| Copa |
T |
G |
1: 171,947,555 (GRCm39) |
F1124V |
probably damaging |
Het |
| Cyp2c66 |
G |
A |
19: 39,151,843 (GRCm39) |
R186H |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,358,208 (GRCm39) |
T323M |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,618 (GRCm39) |
I664V |
possibly damaging |
Het |
| Erp29 |
A |
G |
5: 121,583,293 (GRCm39) |
I211T |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,369,232 (GRCm39) |
S128P |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,540,389 (GRCm39) |
N264Y |
probably damaging |
Het |
| Gsdma2 |
T |
A |
11: 98,540,439 (GRCm39) |
S119R |
probably damaging |
Het |
| H2ac1 |
C |
T |
13: 24,118,796 (GRCm39) |
P118S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,691 (GRCm39) |
|
probably null |
Het |
| Ino80c |
T |
C |
18: 24,247,222 (GRCm39) |
N59S |
probably benign |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 103,470,627 (GRCm39) |
V25A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,012,336 (GRCm39) |
T193A |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,399,770 (GRCm39) |
F414L |
unknown |
Het |
| Nat10 |
A |
T |
2: 103,578,612 (GRCm39) |
C197* |
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,420,093 (GRCm39) |
K11E |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,069 (GRCm39) |
M1K |
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,370 (GRCm39) |
I173V |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,929,437 (GRCm39) |
I582T |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,153,976 (GRCm39) |
I232V |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,166,958 (GRCm39) |
T664S |
probably benign |
Het |
| Pdik1l |
G |
C |
4: 134,006,301 (GRCm39) |
R214G |
probably benign |
Het |
| Prss37 |
C |
T |
6: 40,492,381 (GRCm39) |
V157M |
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,667 (GRCm39) |
|
noncoding transcript |
Het |
| Ring1 |
T |
C |
17: 34,241,333 (GRCm39) |
E261G |
possibly damaging |
Het |
| Sf3a3 |
C |
A |
4: 124,621,974 (GRCm39) |
D371E |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,005,177 (GRCm39) |
|
probably null |
Het |
| Spred1 |
T |
A |
2: 117,005,866 (GRCm39) |
S209R |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,853 (GRCm39) |
T40A |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,537 (GRCm39) |
T187A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,191,039 (GRCm39) |
V311I |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,527 (GRCm39) |
V683A |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,167 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,660,404 (GRCm39) |
A7439V |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,626,795 (GRCm39) |
I838T |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,536 (GRCm39) |
T183A |
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 |
|
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'- GCACAAGCATGTTCAGTACAC -3'
(R):5'- TGCTGTCTGCCTCATGGAAG -3'
Sequencing Primer
(F):5'- GTTCAGTACACACCCATTAGCGTG -3'
(R):5'- CAGGAGGACTTACTCACA -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation