Incidental Mutation 'R3153:Col20a1'
| ID |
264446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
040604-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3153 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 180650386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1074
(P1074L)
|
| 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: P1116L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: P1116L
| 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: P1074L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: P1074L
| 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: ENSMUST00000155425
|
| SMART Domains |
Protein: ENSMUSP00000114654
Gene: ENSMUSG00000016356
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
1 |
55 |
4.9e-12 |
PFAM |
|
Pfam:Collagen
|
36 |
94 |
2.2e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228434
AA Change: P1074L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
C |
2: 152,282,744 (GRCm39) |
N200H |
probably damaging |
Het |
| Abca17 |
T |
A |
17: 24,547,720 (GRCm39) |
D218V |
probably damaging |
Het |
| Abhd12 |
A |
G |
2: 150,676,275 (GRCm39) |
F361L |
probably benign |
Het |
| Abr |
A |
T |
11: 76,377,295 (GRCm39) |
I59N |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,944 (GRCm39) |
E681G |
probably damaging |
Het |
| B3gnt4 |
G |
T |
5: 123,648,716 (GRCm39) |
R27L |
probably benign |
Het |
| Cct8l1 |
A |
C |
5: 25,722,137 (GRCm39) |
E284A |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,855,174 (GRCm39) |
N2134K |
probably benign |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cndp2 |
C |
A |
18: 84,686,722 (GRCm39) |
M433I |
probably benign |
Het |
| Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Coq6 |
G |
A |
12: 84,418,309 (GRCm39) |
V298M |
probably damaging |
Het |
| Cpt1a |
A |
G |
19: 3,406,430 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,474,798 (GRCm39) |
I321F |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,350,987 (GRCm39) |
F166L |
probably benign |
Het |
| Gatc |
T |
C |
5: 115,473,546 (GRCm39) |
E131G |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,575,770 (GRCm39) |
P385L |
probably damaging |
Het |
| Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,759,980 (GRCm39) |
D337G |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
| Kank1 |
T |
A |
19: 25,388,052 (GRCm39) |
V575E |
possibly damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,916,339 (GRCm39) |
D95V |
probably damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,764,243 (GRCm39) |
Y125* |
probably null |
Het |
| Lce1h |
C |
T |
3: 92,670,982 (GRCm39) |
G57R |
unknown |
Het |
| Lgalsl |
A |
G |
11: 20,776,487 (GRCm39) |
F135S |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,192,526 (GRCm39) |
M147V |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,545,618 (GRCm39) |
E23G |
possibly damaging |
Het |
| Mthfd1 |
C |
A |
12: 76,358,737 (GRCm39) |
Q67K |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,019,870 (GRCm39) |
L755P |
probably damaging |
Het |
| Or5m13b |
T |
C |
2: 85,754,074 (GRCm39) |
V154A |
probably benign |
Het |
| Orc3 |
A |
G |
4: 34,575,124 (GRCm39) |
F587L |
probably damaging |
Het |
| Pcdhb7 |
C |
T |
18: 37,476,126 (GRCm39) |
P421S |
probably damaging |
Het |
| Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
| Pkd1l1 |
A |
C |
11: 8,817,207 (GRCm39) |
S1364A |
probably benign |
Het |
| Rin3 |
A |
C |
12: 102,334,800 (GRCm39) |
E157A |
unknown |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,111,440 (GRCm39) |
T47A |
probably damaging |
Het |
| Sap18 |
T |
C |
14: 58,039,402 (GRCm39) |
M68T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,680,577 (GRCm39) |
T246A |
probably benign |
Het |
| Slc18a3 |
A |
G |
14: 32,185,228 (GRCm39) |
V385A |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,315 (GRCm39) |
W819* |
probably null |
Het |
| Smap1 |
A |
T |
1: 23,892,630 (GRCm39) |
D111E |
probably damaging |
Het |
| Spesp1 |
G |
A |
9: 62,189,376 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,286,975 (GRCm39) |
Y84* |
probably null |
Het |
| Sv2a |
T |
A |
3: 96,092,574 (GRCm39) |
D91E |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,275,264 (GRCm39) |
I77T |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,182,580 (GRCm39) |
C149S |
probably damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,570,302 (GRCm39) |
K261E |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,119,734 (GRCm39) |
L179P |
probably benign |
Het |
| Zkscan5 |
T |
A |
5: 145,149,437 (GRCm39) |
S251R |
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 |
|
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'- TGCTGCACACTCAGGACTTG -3'
(R):5'- CTGATAGCCACAGAGGAAACCTG -3'
Sequencing Primer
(F):5'- ATGACTCTAGAGGTCTCCTGGAATC -3'
(R):5'- AAACCTGAGGACGCCTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation