Incidental Mutation 'R7177:Col20a1'
| ID |
558665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
045268-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7177 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 180636007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 211
(Q211*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000108856
AA Change: Q211*
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: Q211*
| 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 null
Transcript: ENSMUST00000149179
AA Change: Q169*
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: Q169*
| 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 null
Transcript: ENSMUST00000228434
AA Change: Q169*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
C |
9: 53,325,685 (GRCm39) |
L74S |
probably damaging |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,525 (GRCm39) |
S18G |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,325,659 (GRCm39) |
I265T |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,297,466 (GRCm39) |
S896L |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,318,822 (GRCm39) |
I571T |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,458,323 (GRCm39) |
T7M |
unknown |
Het |
| Ccdc183 |
A |
G |
2: 25,506,296 (GRCm39) |
V100A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
T |
G |
7: 25,220,341 (GRCm39) |
D239A |
probably benign |
Het |
| Cfap96 |
T |
A |
8: 46,423,444 (GRCm39) |
E89D |
possibly damaging |
Het |
| Cimap1c |
T |
A |
9: 56,757,262 (GRCm39) |
M139L |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,836 (GRCm39) |
D1084G |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
| Col9a1 |
T |
A |
1: 24,234,498 (GRCm39) |
L13Q |
unknown |
Het |
| Cracr2a |
A |
T |
6: 127,585,669 (GRCm39) |
M156L |
probably benign |
Het |
| Cts8 |
C |
T |
13: 61,399,505 (GRCm39) |
M151I |
possibly damaging |
Het |
| Cyp2ab1 |
A |
T |
16: 20,135,469 (GRCm39) |
L11Q |
probably null |
Het |
| Dhrs13 |
T |
A |
11: 77,925,208 (GRCm39) |
C160S |
probably benign |
Het |
| Enthd1 |
T |
A |
15: 80,358,415 (GRCm39) |
E368D |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,760,522 (GRCm39) |
I676T |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,421 (GRCm39) |
R176G |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,990,947 (GRCm39) |
F67L |
possibly damaging |
Het |
| Gm4353 |
G |
A |
7: 115,683,727 (GRCm39) |
P23S |
probably damaging |
Het |
| Gm6882 |
T |
A |
7: 21,161,677 (GRCm39) |
I64F |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,480,204 (GRCm39) |
M1K |
probably null |
Het |
| Hook2 |
T |
A |
8: 85,718,046 (GRCm39) |
S58T |
probably benign |
Het |
| Iqch |
T |
G |
9: 63,329,117 (GRCm39) |
*1072C |
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,748,267 (GRCm39) |
T3019I |
unknown |
Het |
| Lmx1a |
T |
C |
1: 167,674,247 (GRCm39) |
S356P |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,842,712 (GRCm39) |
M546V |
probably benign |
Het |
| Lrrc1 |
C |
A |
9: 77,379,504 (GRCm39) |
E96* |
probably null |
Het |
| Lrtm2 |
C |
A |
6: 119,294,113 (GRCm39) |
M339I |
probably damaging |
Het |
| Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
| Map7d1 |
A |
G |
4: 126,130,778 (GRCm39) |
C384R |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,012 (GRCm39) |
D296G |
probably damaging |
Het |
| Mettl24 |
A |
T |
10: 40,686,508 (GRCm39) |
H295L |
probably damaging |
Het |
| Mgat4f |
T |
C |
1: 134,318,163 (GRCm39) |
S312P |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
| Mrps5 |
T |
C |
2: 127,437,617 (GRCm39) |
V148A |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,964,891 (GRCm39) |
V980A |
probably damaging |
Het |
| Ncaph |
A |
T |
2: 126,958,506 (GRCm39) |
D504E |
probably damaging |
Het |
| Nxph1 |
A |
G |
6: 9,247,497 (GRCm39) |
N156S |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,012 (GRCm39) |
C309* |
probably null |
Het |
| Or4f14b |
T |
A |
2: 111,775,501 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pafah1b3 |
T |
A |
7: 24,994,657 (GRCm39) |
I186L |
probably benign |
Het |
| Papola |
C |
A |
12: 105,775,790 (GRCm39) |
N235K |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,737,527 (GRCm39) |
M98K |
probably benign |
Het |
| Pip4p1 |
A |
C |
14: 51,167,634 (GRCm39) |
M104R |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,330,800 (GRCm39) |
N125S |
probably damaging |
Het |
| Pls1 |
T |
A |
9: 95,655,612 (GRCm39) |
H380L |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,311 (GRCm39) |
T1591A |
possibly damaging |
Het |
| Pparg |
T |
G |
6: 115,418,581 (GRCm39) |
S147A |
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,279,003 (GRCm39) |
S1025P |
probably benign |
Het |
| Prkcd |
T |
A |
14: 30,321,664 (GRCm39) |
H510L |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,572,480 (GRCm39) |
E499D |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,983 (GRCm39) |
S256P |
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,396,634 (GRCm39) |
I459T |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,731,188 (GRCm39) |
D727E |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,720,795 (GRCm39) |
R1378H |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,397,680 (GRCm39) |
S11P |
probably benign |
Het |
| Sox4 |
A |
G |
13: 29,137,000 (GRCm39) |
V2A |
probably damaging |
Het |
| Srf |
A |
G |
17: 46,866,318 (GRCm39) |
F146S |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,747 (GRCm39) |
V797A |
unknown |
Het |
| Stk32c |
T |
C |
7: 138,684,218 (GRCm39) |
D463G |
possibly damaging |
Het |
| Syne2 |
C |
A |
12: 76,018,654 (GRCm39) |
Y3384* |
probably null |
Het |
| Tektl1 |
T |
C |
10: 78,588,324 (GRCm39) |
D162G |
probably damaging |
Het |
| Traip |
T |
A |
9: 107,838,184 (GRCm39) |
M139K |
possibly damaging |
Het |
| Trappc2l |
T |
A |
8: 123,341,051 (GRCm39) |
F100Y |
probably damaging |
Het |
| Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,099,691 (GRCm39) |
V1168A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,882 (GRCm39) |
D233G |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,334,120 (GRCm39) |
R31C |
possibly 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 |
|
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 |
|
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'- TTTAGAGAAGCCGAAACCCC -3'
(R):5'- AGCTGCTGTCCTTCTGCTAG -3'
Sequencing Primer
(F):5'- CAAACTAGGATGCAAGAAGGTTTTTC -3'
(R):5'- GTCCTTCTGCTAGTGAGAACTCAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation