Incidental Mutation 'R9697:Col20a1'
| ID |
729346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9697 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 180641577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 673
(G673D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108856]
[ENSMUST00000149179]
[ENSMUST00000228434]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108856
AA Change: G673D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: G673D
| 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 benign
Transcript: ENSMUST00000149179
AA Change: G631D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: G631D
| 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: G631D
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
T |
17: 15,163,769 (GRCm39) |
|
probably benign |
Het |
| 9330182O14Rik |
C |
T |
15: 40,005,500 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
C |
A |
18: 59,101,834 (GRCm39) |
P635T |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,625,362 (GRCm39) |
W857R |
possibly damaging |
Het |
| Ak9 |
T |
G |
10: 41,298,968 (GRCm39) |
Y1556* |
probably null |
Het |
| Ang2 |
T |
C |
14: 51,433,326 (GRCm39) |
I19V |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,253 (GRCm39) |
T834S |
probably damaging |
Het |
| As3mt |
A |
T |
19: 46,708,420 (GRCm39) |
I236F |
probably benign |
Het |
| Asns |
A |
T |
6: 7,689,268 (GRCm39) |
I78N |
probably damaging |
Het |
| Bet1 |
G |
A |
6: 4,082,471 (GRCm39) |
T44M |
probably damaging |
Het |
| Cabyr |
T |
C |
18: 12,884,407 (GRCm39) |
V298A |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,589,598 (GRCm39) |
V1601A |
|
Het |
| Ccni |
A |
T |
5: 93,350,201 (GRCm39) |
M26K |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,867,679 (GRCm39) |
I503T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,792,851 (GRCm39) |
K1754R |
unknown |
Het |
| Cfap69 |
A |
G |
5: 5,676,041 (GRCm39) |
V218A |
possibly damaging |
Het |
| Clcn3 |
A |
G |
8: 61,372,518 (GRCm39) |
L741P |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,068,828 (GRCm39) |
F124L |
possibly damaging |
Het |
| Col4a2 |
A |
G |
8: 11,487,628 (GRCm39) |
I977V |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,031,190 (GRCm39) |
I118F |
probably damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,098,283 (GRCm39) |
D369E |
probably benign |
Het |
| Dhtkd1 |
T |
C |
2: 5,919,651 (GRCm39) |
T577A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,204,417 (GRCm39) |
M1375K |
probably benign |
Het |
| Fa2h |
G |
A |
8: 112,074,659 (GRCm39) |
H315Y |
probably damaging |
Het |
| Foxd2 |
G |
A |
4: 114,765,684 (GRCm39) |
P112L |
unknown |
Het |
| Gin1 |
A |
G |
1: 97,712,897 (GRCm39) |
I317V |
probably benign |
Het |
| Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
| H2-T3 |
T |
A |
17: 36,500,744 (GRCm39) |
Y33F |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Il12rb1 |
G |
A |
8: 71,263,874 (GRCm39) |
W145* |
probably null |
Het |
| Il6ra |
A |
G |
3: 89,785,219 (GRCm39) |
V330A |
probably benign |
Het |
| Impdh2 |
T |
C |
9: 108,438,847 (GRCm39) |
S67P |
possibly damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,792,521 (GRCm39) |
S85T |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,956,458 (GRCm39) |
|
probably null |
Het |
| Mettl4 |
T |
A |
17: 95,034,806 (GRCm39) |
I430F |
probably damaging |
Het |
| Mmd |
T |
A |
11: 90,167,579 (GRCm39) |
F203I |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,494,035 (GRCm39) |
T305A |
possibly damaging |
Het |
| Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,299,892 (GRCm39) |
H10L |
probably benign |
Het |
| Or5b107 |
G |
A |
19: 13,142,888 (GRCm39) |
C170Y |
possibly damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,415,022 (GRCm39) |
H701R |
possibly damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,621,773 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,913,517 (GRCm39) |
V972M |
unknown |
Het |
| Pink1 |
A |
G |
4: 138,041,323 (GRCm39) |
C563R |
possibly damaging |
Het |
| Prol1 |
A |
T |
5: 88,466,426 (GRCm39) |
N3I |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,363,288 (GRCm39) |
I474S |
probably damaging |
Het |
| Rabgef1 |
A |
G |
5: 130,241,781 (GRCm39) |
E395G |
probably benign |
Het |
| Rpgrip1l |
G |
T |
8: 91,987,391 (GRCm39) |
H889N |
possibly damaging |
Het |
| Sapcd2 |
T |
A |
2: 25,262,925 (GRCm39) |
C161* |
probably null |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Spen |
A |
G |
4: 141,196,275 (GRCm39) |
L3625P |
probably damaging |
Het |
| Stil |
T |
C |
4: 114,878,701 (GRCm39) |
I379T |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,078,014 (GRCm39) |
D172G |
|
Het |
| Timm50 |
A |
G |
7: 28,010,350 (GRCm39) |
L68P |
probably damaging |
Het |
| Tlr9 |
C |
T |
9: 106,100,723 (GRCm39) |
R5* |
probably null |
Het |
| Top1mt |
A |
T |
15: 75,547,874 (GRCm39) |
Y71N |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,771,285 (GRCm39) |
Y415H |
possibly damaging |
Het |
| Try10 |
C |
T |
6: 41,331,041 (GRCm39) |
|
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,063,780 (GRCm39) |
E581G |
probably damaging |
Het |
| Usp17lb |
G |
A |
7: 104,490,495 (GRCm39) |
T144I |
possibly damaging |
Het |
| Vmn1r64 |
T |
C |
7: 5,886,859 (GRCm39) |
N228S |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGCATCTCACAGGCTAG -3'
(R):5'- AGCGTTTACTTTTAGACAAGGGTC -3'
Sequencing Primer
(F):5'- ATCTCACAGGCTAGCCCCG -3'
(R):5'- TCGGCCACATGGAGGAATGTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation