Incidental Mutation 'R9223:Col20a1'
| ID |
699580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
068959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9223 (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 T
at 180648528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 938
(E938D)
|
| 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: E938D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: E938D
| 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: E896D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: E896D
| 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: E896D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
C |
A |
9: 101,820,193 (GRCm39) |
D204E |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,156,037 (GRCm39) |
S80P |
probably benign |
Het |
| Bcl6b |
A |
T |
11: 70,117,400 (GRCm39) |
Y407* |
probably null |
Het |
| Ccn2 |
T |
C |
10: 24,471,856 (GRCm39) |
V49A |
probably benign |
Het |
| Cel |
TTA |
TTATA |
2: 28,449,441 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
T |
2: 79,171,674 (GRCm39) |
C395S |
probably damaging |
Het |
| Chst5 |
C |
A |
8: 112,617,492 (GRCm39) |
V43L |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,784,337 (GRCm39) |
F271I |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,484,411 (GRCm39) |
T1190A |
possibly damaging |
Het |
| Dmrta2 |
G |
A |
4: 109,839,779 (GRCm39) |
V509M |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,361,420 (GRCm39) |
M3440K |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,029,184 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
G |
7: 130,927,869 (GRCm39) |
S107P |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,149,358 (GRCm39) |
I708N |
probably benign |
Het |
| Fbxo11 |
A |
T |
17: 88,323,124 (GRCm39) |
D12E |
|
Het |
| Fbxw13 |
T |
C |
9: 109,024,116 (GRCm39) |
D39G |
probably damaging |
Het |
| Gabrb3 |
T |
G |
7: 57,466,152 (GRCm39) |
L322R |
probably damaging |
Het |
| Gm5239 |
A |
T |
18: 35,669,672 (GRCm39) |
I13F |
possibly damaging |
Het |
| Heatr1 |
A |
G |
13: 12,419,802 (GRCm39) |
Y375C |
probably benign |
Het |
| Helq |
A |
T |
5: 100,946,303 (GRCm39) |
S13T |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,509,918 (GRCm39) |
T514A |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,522,552 (GRCm39) |
V32A |
|
Het |
| Htra4 |
A |
G |
8: 25,527,048 (GRCm39) |
I249T |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,062,692 (GRCm39) |
V2809L |
probably benign |
Het |
| Ifi203 |
T |
A |
1: 173,765,437 (GRCm39) |
I46F |
probably benign |
Het |
| Kcna2 |
A |
T |
3: 107,012,306 (GRCm39) |
I296F |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,357 (GRCm39) |
E882G |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,071 (GRCm39) |
D444E |
probably benign |
Het |
| Lrrtm3 |
ATTTT |
ATTTTT |
10: 63,925,035 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
C |
T |
12: 66,615,634 (GRCm39) |
D658N |
possibly damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,183 (GRCm39) |
K316R |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,553,666 (GRCm39) |
C165Y |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,867 (GRCm39) |
F1843L |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,220,093 (GRCm39) |
R338Q |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,364,184 (GRCm39) |
R372H |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,202,599 (GRCm39) |
S1461Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,814,738 (GRCm39) |
V282D |
possibly damaging |
Het |
| Nup98 |
C |
A |
7: 101,834,167 (GRCm39) |
G265V |
possibly damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,911 (GRCm39) |
F260S |
probably damaging |
Het |
| Or2d3b |
A |
G |
7: 106,513,980 (GRCm39) |
T192A |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,442,012 (GRCm39) |
E24K |
possibly damaging |
Het |
| Or4f58 |
T |
A |
2: 111,851,517 (GRCm39) |
K227N |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,473 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or8k18 |
G |
T |
2: 86,085,544 (GRCm39) |
F164L |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,690,205 (GRCm39) |
E888D |
probably damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,948,685 (GRCm39) |
I34V |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,807,376 (GRCm39) |
R417G |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,778 (GRCm39) |
S311G |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,812 (GRCm39) |
V105A |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,183,444 (GRCm39) |
D102G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,066,772 (GRCm39) |
I184V |
probably damaging |
Het |
| Spopfm2 |
A |
C |
3: 94,082,950 (GRCm39) |
L287R |
probably damaging |
Het |
| Tex35 |
A |
T |
1: 156,935,436 (GRCm39) |
C21S |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,282,649 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,897,998 (GRCm39) |
C607Y |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,963,166 (GRCm39) |
M395K |
probably benign |
Het |
| Trim43b |
A |
C |
9: 88,967,663 (GRCm39) |
H324Q |
probably benign |
Het |
| Vmn2r116 |
A |
T |
17: 23,620,141 (GRCm39) |
Y625F |
probably damaging |
Het |
| Yipf3 |
A |
T |
17: 46,559,798 (GRCm39) |
N38I |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,821,496 (GRCm39) |
E522D |
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 |
|
|
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 |
|
|
R9697:Col20a1
|
UTSW |
2 |
180,641,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGCCTCCATTGTTG -3'
(R):5'- ATCCTTGGACTCGTGTTCCATG -3'
Sequencing Primer
(F):5'- CCTGGCTTCAGAGAGCAGAG -3'
(R):5'- CTCGTGTTCCATGAGGTTAAGAAAG -3'
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| Posted On |
2022-02-07 |
Incidental Mutation