Incidental Mutation 'R7195:Col20a1'
| ID |
559837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
045336-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180649024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1011
(H1011R)
|
| 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: H1011R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: H1011R
| 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: H969R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: H969R
| 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 damaging
Transcript: ENSMUST00000228434
AA Change: H969R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
C |
11: 58,179,242 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,069 (GRCm39) |
K131* |
probably null |
Het |
| Adam39 |
A |
T |
8: 41,277,812 (GRCm39) |
R68* |
probably null |
Het |
| Akap7 |
A |
T |
10: 25,147,405 (GRCm39) |
N108K |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,338,721 (GRCm39) |
A14S |
probably benign |
Het |
| Ccdc141 |
T |
G |
2: 76,879,927 (GRCm39) |
N632T |
probably benign |
Het |
| Ccm2 |
T |
C |
11: 6,546,302 (GRCm39) |
S435P |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 18,019,187 (GRCm39) |
L178P |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,075 (GRCm39) |
I59V |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,135,204 (GRCm39) |
S32T |
probably benign |
Het |
| Cep19 |
A |
G |
16: 31,925,904 (GRCm39) |
D104G |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,510,753 (GRCm39) |
P68S |
unknown |
Het |
| Cspg4b |
A |
T |
13: 113,504,463 (GRCm39) |
D1864V |
|
Het |
| D7Ertd443e |
A |
G |
7: 133,896,851 (GRCm39) |
V513A |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,818,162 (GRCm39) |
P228L |
probably damaging |
Het |
| Fam243 |
C |
T |
16: 92,118,037 (GRCm39) |
V84M |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,131 (GRCm39) |
R97G |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,540,386 (GRCm39) |
V768M |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,288,050 (GRCm39) |
N96Y |
probably damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,622 (GRCm39) |
Y330N |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,424,203 (GRCm39) |
N683S |
unknown |
Het |
| Ice2 |
C |
T |
9: 69,335,782 (GRCm39) |
P922S |
possibly damaging |
Het |
| Iglv2 |
A |
G |
16: 19,079,260 (GRCm39) |
V81A |
not run |
Het |
| Irs1 |
A |
G |
1: 82,265,177 (GRCm39) |
I1013T |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,621,432 (GRCm39) |
S832P |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,517,513 (GRCm39) |
Y388N |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,348,601 (GRCm39) |
S2698L |
unknown |
Het |
| Map4k4 |
T |
C |
1: 40,058,829 (GRCm39) |
Y1008H |
possibly damaging |
Het |
| Mdn1 |
G |
T |
4: 32,701,823 (GRCm39) |
G1519W |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,809 (GRCm39) |
D653E |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,208,733 (GRCm39) |
E48G |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,231,842 (GRCm39) |
|
probably null |
Het |
| Or1p1b |
G |
T |
11: 74,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Or3a4 |
T |
A |
11: 73,945,223 (GRCm39) |
M121L |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,832,075 (GRCm39) |
L186F |
|
Het |
| Or51a39 |
A |
G |
7: 102,362,873 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,574 (GRCm39) |
V251D |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,123,840 (GRCm39) |
N65S |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,158,383 (GRCm39) |
V439A |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,341 (GRCm39) |
G13W |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,509,237 (GRCm39) |
V230A |
probably benign |
Het |
| Pop1 |
C |
T |
15: 34,510,525 (GRCm39) |
S439L |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,929,533 (GRCm39) |
H83Q |
probably benign |
Het |
| Qrfp |
C |
T |
2: 31,698,704 (GRCm39) |
R76H |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,139 (GRCm39) |
V197A |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,047 (GRCm39) |
N591D |
possibly damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,807 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Spock1 |
C |
T |
13: 58,055,316 (GRCm39) |
G29D |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,674 (GRCm39) |
P109Q |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,904,309 (GRCm39) |
F239L |
probably damaging |
Het |
| Tbx3 |
A |
G |
5: 119,813,648 (GRCm39) |
Y248C |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,266,637 (GRCm39) |
L217P |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,853,726 (GRCm39) |
I398L |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,884 (GRCm39) |
S40T |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,023,900 (GRCm39) |
S894G |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,592,347 (GRCm39) |
|
probably null |
Het |
| Vps13c |
G |
A |
9: 67,853,107 (GRCm39) |
G2400D |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,032 (GRCm39) |
Y197H |
probably damaging |
Het |
| Wdr91 |
T |
C |
6: 34,866,209 (GRCm39) |
N486D |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,908 (GRCm39) |
I695T |
possibly damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,382,547 (GRCm39) |
D133G |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,335,200 (GRCm39) |
I307V |
unknown |
Het |
| Zfp933 |
G |
A |
4: 147,910,636 (GRCm39) |
T320I |
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 |
|
|
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'- TGGGTAGGGCCTTTGATCAC -3'
(R):5'- GCCTTGGCTTCTCAGAGAAAGC -3'
Sequencing Primer
(F):5'- AGGGCCTTTGATCACTGCCTC -3'
(R):5'- GCTTCTCAGAGAAAGCTGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation