Incidental Mutation 'R6924:Col20a1'
| ID |
539775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
045042-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6924 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180638643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 419
(E419G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108856
AA Change: E461G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: E461G
| 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: E419G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: E419G
| 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: E419G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,884 (GRCm39) |
H30P |
probably damaging |
Het |
| Abhd6 |
A |
T |
14: 8,049,850 (GRCm38) |
H213L |
possibly damaging |
Het |
| Adam22 |
T |
A |
5: 8,417,322 (GRCm39) |
N40I |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,231,224 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,369,066 (GRCm39) |
R63C |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,536,755 (GRCm39) |
|
probably null |
Het |
| Atg7 |
T |
C |
6: 114,686,172 (GRCm39) |
|
probably null |
Het |
| Car6 |
A |
C |
4: 150,273,713 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,259,667 (GRCm39) |
C302* |
probably null |
Het |
| Ccdc117 |
A |
T |
11: 5,484,255 (GRCm39) |
M195K |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,702,023 (GRCm39) |
M383T |
probably damaging |
Het |
| Cyp2d9 |
C |
G |
15: 82,339,413 (GRCm39) |
R272G |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,546,244 (GRCm39) |
M1380K |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,455,517 (GRCm39) |
S881G |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,248 (GRCm39) |
I1084N |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,878,981 (GRCm39) |
C21* |
probably null |
Het |
| Gemin4 |
A |
G |
11: 76,103,162 (GRCm39) |
L533P |
probably damaging |
Het |
| Gkn3 |
T |
C |
6: 87,365,784 (GRCm39) |
R12G |
probably benign |
Het |
| Gpr161 |
G |
T |
1: 165,149,188 (GRCm39) |
R519L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,481,092 (GRCm39) |
V535A |
possibly damaging |
Het |
| Gys1 |
G |
A |
7: 45,093,059 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
C |
T |
5: 106,998,276 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,240,517 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,808,873 (GRCm39) |
Y738H |
unknown |
Het |
| Hycc1 |
T |
C |
5: 24,191,133 (GRCm39) |
|
probably null |
Het |
| Igsf23 |
A |
G |
7: 19,675,684 (GRCm39) |
S141P |
possibly damaging |
Het |
| Lamc3 |
A |
C |
2: 31,828,081 (GRCm39) |
M1423L |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,970,484 (GRCm39) |
T200A |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,784 (GRCm39) |
V899A |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,421,145 (GRCm39) |
R36S |
possibly damaging |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,871 (GRCm39) |
K181E |
possibly damaging |
Het |
| Muc2 |
G |
A |
7: 141,284,077 (GRCm39) |
V786M |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,980,041 (GRCm39) |
T132A |
probably damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,250,774 (GRCm39) |
I15K |
probably damaging |
Het |
| Or10p22 |
T |
G |
10: 128,825,960 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or4k15c |
A |
G |
14: 50,321,307 (GRCm39) |
I277T |
possibly damaging |
Het |
| Otoa |
A |
T |
7: 120,730,724 (GRCm39) |
|
probably null |
Het |
| Otogl |
A |
G |
10: 107,644,502 (GRCm39) |
I1248T |
probably damaging |
Het |
| Ppp1r17 |
T |
A |
6: 56,003,007 (GRCm39) |
D32E |
probably damaging |
Het |
| Relt |
A |
C |
7: 100,496,468 (GRCm39) |
V427G |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,546,788 (GRCm39) |
V256D |
probably damaging |
Het |
| Samhd1 |
T |
C |
2: 156,951,403 (GRCm39) |
T445A |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,821,646 (GRCm39) |
I189V |
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,112,262 (GRCm39) |
D1793E |
probably damaging |
Het |
| Sim1 |
C |
T |
10: 50,784,635 (GRCm39) |
T137I |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,800,218 (GRCm39) |
D253E |
possibly damaging |
Het |
| Stmnd1 |
T |
C |
13: 46,452,969 (GRCm39) |
V215A |
probably benign |
Het |
| Tcl1 |
A |
G |
12: 105,185,015 (GRCm39) |
L65P |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,070 (GRCm39) |
K1231N |
probably damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,206,717 (GRCm39) |
Y476C |
probably damaging |
Het |
| Trim63 |
T |
C |
4: 134,048,572 (GRCm39) |
S194P |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,379 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,613,198 (GRCm39) |
F7S |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,596,589 (GRCm39) |
H154Q |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,819,902 (GRCm39) |
V1018I |
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 |
|
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'- AAACCAGCAGCAGGTACTCG -3'
(R):5'- TGTTGTCTGCAGTCACAGC -3'
Sequencing Primer
(F):5'- AGGTACTCGGGTCCTGGAC -3'
(R):5'- ACATTCTGACTCTGTCCAATGGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation