Incidental Mutation 'R8511:Acan'
| ID |
655872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acan
|
| Ensembl Gene |
ENSMUSG00000030607 |
| Gene Name |
aggrecan |
| Synonyms |
Agc1, Cspg1, b2b183Clo |
| MMRRC Submission |
067888-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78747683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 818
(D818G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
| AlphaFold |
Q61282 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032835
AA Change: D818G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: D818G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGv
|
46 |
135 |
3.46e-7 |
SMART |
|
LINK
|
151 |
248 |
1.76e-59 |
SMART |
|
LINK
|
252 |
350 |
4.13e-65 |
SMART |
|
LINK
|
485 |
582 |
1.03e-51 |
SMART |
|
LINK
|
586 |
684 |
9.58e-61 |
SMART |
|
low complexity region
|
767 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
966 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1495 |
N/A |
INTRINSIC |
|
low complexity region
|
1707 |
1720 |
N/A |
INTRINSIC |
|
low complexity region
|
1808 |
1823 |
N/A |
INTRINSIC |
|
low complexity region
|
1904 |
1915 |
N/A |
INTRINSIC |
|
CLECT
|
1922 |
2043 |
2.13e-37 |
SMART |
|
CCP
|
2049 |
2105 |
9.32e-11 |
SMART |
|
low complexity region
|
2118 |
2130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206779
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
T |
C |
11: 11,540,056 (GRCm39) |
H186R |
unknown |
Het |
| 6430548M08Rik |
A |
G |
8: 120,879,301 (GRCm39) |
N233S |
probably benign |
Het |
| Adam22 |
G |
A |
5: 8,184,558 (GRCm39) |
T478I |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,490,897 (GRCm39) |
M481V |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,294,396 (GRCm39) |
*115R |
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,719 (GRCm39) |
K3668E |
unknown |
Het |
| Aldh6a1 |
G |
A |
12: 84,480,745 (GRCm39) |
T430I |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,626,468 (GRCm39) |
D17G |
|
Het |
| Apol10b |
T |
C |
15: 77,469,211 (GRCm39) |
E322G |
probably benign |
Het |
| Apol10b |
C |
G |
15: 77,469,210 (GRCm39) |
E322D |
probably benign |
Het |
| Apol8 |
C |
T |
15: 77,634,273 (GRCm39) |
G101E |
probably benign |
Het |
| Arhgef26 |
A |
T |
3: 62,336,350 (GRCm39) |
M630L |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,385,046 (GRCm39) |
L230P |
probably damaging |
Het |
| Atg101 |
T |
C |
15: 101,188,503 (GRCm39) |
S203P |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,732,158 (GRCm39) |
T1996S |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,233,165 (GRCm39) |
K1869R |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,724,910 (GRCm39) |
I1233F |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,445,492 (GRCm39) |
L1770I |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,791,969 (GRCm39) |
N67S |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,262,692 (GRCm39) |
N626S |
|
Het |
| Cuedc2 |
C |
A |
19: 46,319,358 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
A |
T |
7: 130,703,742 (GRCm39) |
N1275Y |
unknown |
Het |
| Dnm3 |
A |
G |
1: 162,113,611 (GRCm39) |
V483A |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,864,801 (GRCm39) |
H718Q |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,918,847 (GRCm39) |
D50G |
probably damaging |
Het |
| Egfr |
T |
G |
11: 16,846,949 (GRCm39) |
I782S |
probably damaging |
Het |
| Elmod1 |
A |
T |
9: 53,820,095 (GRCm39) |
F298I |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,358,428 (GRCm39) |
Q364R |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,200,063 (GRCm39) |
S1004C |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,939,064 (GRCm39) |
K480* |
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,265,994 (GRCm39) |
T1561A |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,431,868 (GRCm39) |
Y200* |
probably null |
Het |
| Foxj2 |
C |
T |
6: 122,808,404 (GRCm39) |
R115* |
probably null |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gpsm2 |
A |
G |
3: 108,589,399 (GRCm39) |
S580P |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,834,654 (GRCm39) |
S870P |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,075,874 (GRCm39) |
N234K |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,754,726 (GRCm39) |
F15L |
probably benign |
Het |
| Immp1l |
G |
A |
2: 105,761,100 (GRCm39) |
R3H |
probably benign |
Het |
| Iqca1l |
T |
A |
5: 24,750,906 (GRCm39) |
H559L |
possibly damaging |
Het |
| Jak3 |
T |
A |
8: 72,138,194 (GRCm39) |
Y882N |
probably damaging |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,268,650 (GRCm39) |
D291G |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,775,155 (GRCm39) |
E61K |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 121,015,513 (GRCm39) |
I175T |
possibly damaging |
Het |
| Nectin3 |
G |
A |
16: 46,284,363 (GRCm39) |
P107L |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
| Pira1 |
A |
G |
7: 3,742,347 (GRCm39) |
L60P |
probably damaging |
Het |
| Polr1a |
C |
A |
6: 71,897,504 (GRCm39) |
H207N |
probably benign |
Het |
| Prokr2 |
A |
G |
2: 132,223,422 (GRCm39) |
V40A |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,798,156 (GRCm39) |
|
probably null |
Het |
| Ptprs |
G |
A |
17: 56,754,440 (GRCm39) |
T200I |
probably damaging |
Het |
| Ramp3 |
C |
T |
11: 6,626,709 (GRCm39) |
R139C |
probably benign |
Het |
| Scfd2 |
A |
G |
5: 74,372,949 (GRCm39) |
V642A |
possibly damaging |
Het |
| Scn11a |
T |
C |
9: 119,618,981 (GRCm39) |
K787R |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,952,990 (GRCm39) |
V523A |
probably benign |
Het |
| Smo |
A |
G |
6: 29,755,531 (GRCm39) |
Y401C |
probably damaging |
Het |
| Stmn2 |
A |
G |
3: 8,574,615 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
G |
T |
4: 45,885,347 (GRCm39) |
G605V |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,055,647 (GRCm39) |
I4170V |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,924,141 (GRCm39) |
I594F |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,423,830 (GRCm39) |
L648P |
probably damaging |
Het |
| Tmprss2 |
G |
T |
16: 97,369,662 (GRCm39) |
L371I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,579,866 (GRCm39) |
R23676G |
probably damaging |
Het |
| Tvp23b |
T |
C |
11: 62,774,563 (GRCm39) |
I69T |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,614,443 (GRCm39) |
D721V |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,445,108 (GRCm39) |
V1717E |
unknown |
Het |
| Zmiz2 |
C |
T |
11: 6,353,190 (GRCm39) |
H658Y |
probably damaging |
Het |
|
| Other mutations in Acan |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Acan
|
APN |
7 |
78,747,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01118:Acan
|
APN |
7 |
78,748,401 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01145:Acan
|
APN |
7 |
78,749,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Acan
|
APN |
7 |
78,748,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01520:Acan
|
APN |
7 |
78,734,318 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02069:Acan
|
APN |
7 |
78,742,500 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02629:Acan
|
APN |
7 |
78,761,727 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02713:Acan
|
APN |
7 |
78,749,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03001:Acan
|
APN |
7 |
78,761,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03081:Acan
|
APN |
7 |
78,748,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
Disproportion
|
UTSW |
7 |
78,742,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Hollowleg
|
UTSW |
7 |
78,748,096 (GRCm39) |
nonsense |
probably null |
|
|
Sublimate
|
UTSW |
7 |
78,761,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Vacuo
|
UTSW |
7 |
78,738,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03147:Acan
|
UTSW |
7 |
78,740,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Acan
|
UTSW |
7 |
78,750,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Acan
|
UTSW |
7 |
78,750,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0599:Acan
|
UTSW |
7 |
78,761,038 (GRCm39) |
splice site |
probably benign |
|
|
R0827:Acan
|
UTSW |
7 |
78,749,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0835:Acan
|
UTSW |
7 |
78,763,980 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1496:Acan
|
UTSW |
7 |
78,750,552 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1716:Acan
|
UTSW |
7 |
78,731,946 (GRCm39) |
missense |
unknown |
|
|
R1761:Acan
|
UTSW |
7 |
78,743,833 (GRCm39) |
nonsense |
probably null |
|
|
R1848:Acan
|
UTSW |
7 |
78,748,783 (GRCm39) |
missense |
probably benign |
|
|
R2002:Acan
|
UTSW |
7 |
78,750,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Acan
|
UTSW |
7 |
78,750,970 (GRCm39) |
missense |
probably benign |
|
|
R2167:Acan
|
UTSW |
7 |
78,749,705 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2189:Acan
|
UTSW |
7 |
78,747,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Acan
|
UTSW |
7 |
78,749,705 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2496:Acan
|
UTSW |
7 |
78,761,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2971:Acan
|
UTSW |
7 |
78,749,447 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4004:Acan
|
UTSW |
7 |
78,750,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Acan
|
UTSW |
7 |
78,750,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Acan
|
UTSW |
7 |
78,748,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4733:Acan
|
UTSW |
7 |
78,748,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4742:Acan
|
UTSW |
7 |
78,750,517 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4750:Acan
|
UTSW |
7 |
78,742,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Acan
|
UTSW |
7 |
78,742,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5122:Acan
|
UTSW |
7 |
78,750,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5190:Acan
|
UTSW |
7 |
78,748,289 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5220:Acan
|
UTSW |
7 |
78,738,045 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5414:Acan
|
UTSW |
7 |
78,750,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5525:Acan
|
UTSW |
7 |
78,749,731 (GRCm39) |
missense |
probably benign |
|
|
R5655:Acan
|
UTSW |
7 |
78,749,791 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5662:Acan
|
UTSW |
7 |
78,749,855 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5748:Acan
|
UTSW |
7 |
78,739,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5758:Acan
|
UTSW |
7 |
78,750,962 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5996:Acan
|
UTSW |
7 |
78,761,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6057:Acan
|
UTSW |
7 |
78,749,530 (GRCm39) |
missense |
probably null |
|
|
R6503:Acan
|
UTSW |
7 |
78,747,580 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6529:Acan
|
UTSW |
7 |
78,739,479 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6887:Acan
|
UTSW |
7 |
78,742,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Acan
|
UTSW |
7 |
78,748,096 (GRCm39) |
nonsense |
probably null |
|
|
R7193:Acan
|
UTSW |
7 |
78,736,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Acan
|
UTSW |
7 |
78,757,896 (GRCm39) |
missense |
|
|
|
R7263:Acan
|
UTSW |
7 |
78,742,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7376:Acan
|
UTSW |
7 |
78,738,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7502:Acan
|
UTSW |
7 |
78,743,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Acan
|
UTSW |
7 |
78,736,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Acan
|
UTSW |
7 |
78,739,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Acan
|
UTSW |
7 |
78,749,623 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8051:Acan
|
UTSW |
7 |
78,750,527 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8131:Acan
|
UTSW |
7 |
78,741,086 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8138:Acan
|
UTSW |
7 |
78,748,175 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8324:Acan
|
UTSW |
7 |
78,740,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Acan
|
UTSW |
7 |
78,746,492 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8716:Acan
|
UTSW |
7 |
78,762,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Acan
|
UTSW |
7 |
78,748,516 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8810:Acan
|
UTSW |
7 |
78,749,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Acan
|
UTSW |
7 |
78,750,101 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8956:Acan
|
UTSW |
7 |
78,750,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Acan
|
UTSW |
7 |
78,736,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Acan
|
UTSW |
7 |
78,740,768 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9549:Acan
|
UTSW |
7 |
78,742,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9572:Acan
|
UTSW |
7 |
78,748,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9645:Acan
|
UTSW |
7 |
78,749,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9742:Acan
|
UTSW |
7 |
78,749,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF008:Acan
|
UTSW |
7 |
78,742,148 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1088:Acan
|
UTSW |
7 |
78,761,102 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Acan
|
UTSW |
7 |
78,749,858 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1088:Acan
|
UTSW |
7 |
78,737,948 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Acan
|
UTSW |
7 |
78,761,102 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Acan
|
UTSW |
7 |
78,761,102 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Acan
|
UTSW |
7 |
78,749,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Acan
|
UTSW |
7 |
78,743,918 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTTCACCATTCCACACTTC -3'
(R):5'- CTCCTGAGGCAGAACCACTTTC -3'
Sequencing Primer
(F):5'- GGATCCCTCCCACATGGC -3'
(R):5'- TGAGGCAGAACCACTTTCTACAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation