Incidental Mutation 'R0599:Acan'
ID |
55218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acan
|
Ensembl Gene |
ENSMUSG00000030607 |
Gene Name |
aggrecan |
Synonyms |
Agc1, Cspg1, b2b183Clo |
MMRRC Submission |
038788-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0599 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 78761038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
[ENSMUST00000205782]
[ENSMUST00000206092]
|
AlphaFold |
Q61282 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032835
|
SMART Domains |
Protein: ENSMUSP00000032835 Gene: ENSMUSG00000030607
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: ENSMUST00000205782
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206092
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206779
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
98% (80/82) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,529,208 (GRCm39) |
L978P |
probably damaging |
Het |
Abcb1a |
C |
T |
5: 8,748,539 (GRCm39) |
T290M |
probably benign |
Het |
Abcd3 |
A |
T |
3: 121,558,742 (GRCm39) |
F585I |
probably damaging |
Het |
Abtb3 |
G |
A |
10: 85,494,200 (GRCm39) |
G1106D |
probably damaging |
Het |
Anxa6 |
T |
C |
11: 54,870,292 (GRCm39) |
D667G |
possibly damaging |
Het |
Ap3m2 |
G |
T |
8: 23,283,128 (GRCm39) |
A208D |
possibly damaging |
Het |
Arhgap17 |
A |
T |
7: 122,903,013 (GRCm39) |
|
probably benign |
Het |
Bptf |
A |
G |
11: 106,959,208 (GRCm39) |
V1838A |
probably damaging |
Het |
Brip1 |
T |
A |
11: 86,043,563 (GRCm39) |
M334L |
probably benign |
Het |
Btbd10 |
C |
T |
7: 112,934,516 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
C |
A |
1: 109,980,696 (GRCm39) |
T208K |
probably damaging |
Het |
Cnga4 |
A |
G |
7: 105,055,025 (GRCm39) |
Y100C |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,878,017 (GRCm39) |
V2644M |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,856,515 (GRCm39) |
D2882G |
probably damaging |
Het |
Eapp |
T |
A |
12: 54,732,747 (GRCm39) |
K117M |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,916,427 (GRCm39) |
V673A |
probably benign |
Het |
Ephb4 |
G |
A |
5: 137,368,117 (GRCm39) |
C754Y |
probably damaging |
Het |
Eps8l1 |
A |
G |
7: 4,480,956 (GRCm39) |
D33G |
possibly damaging |
Het |
Farsa |
A |
G |
8: 85,594,212 (GRCm39) |
K321E |
probably damaging |
Het |
Fry |
G |
A |
5: 150,360,624 (GRCm39) |
R2090Q |
probably damaging |
Het |
Gm10283 |
A |
G |
8: 60,954,258 (GRCm39) |
|
probably benign |
Het |
Grm4 |
A |
G |
17: 27,650,464 (GRCm39) |
I844T |
probably benign |
Het |
Gtf2h3 |
A |
G |
5: 124,726,691 (GRCm39) |
D124G |
probably benign |
Het |
Gulo |
A |
T |
14: 66,227,890 (GRCm39) |
D347E |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,485,552 (GRCm39) |
F4350S |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,239,712 (GRCm39) |
D473G |
probably damaging |
Het |
Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,720,440 (GRCm39) |
E1026G |
probably damaging |
Het |
Itga2 |
A |
T |
13: 114,993,186 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
A |
T |
13: 47,212,286 (GRCm39) |
D190V |
possibly damaging |
Het |
Lima1 |
A |
T |
15: 99,700,040 (GRCm39) |
N146K |
probably damaging |
Het |
Mnt |
G |
T |
11: 74,733,122 (GRCm39) |
V85L |
probably benign |
Het |
Mon2 |
T |
A |
10: 122,861,970 (GRCm39) |
|
probably benign |
Het |
Mtf1 |
T |
C |
4: 124,713,994 (GRCm39) |
|
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,896,737 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
C |
5: 113,013,616 (GRCm39) |
L780R |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,283,942 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,964,522 (GRCm39) |
S705P |
probably damaging |
Het |
Ocrl |
A |
T |
X: 47,024,963 (GRCm39) |
|
probably benign |
Het |
Or1e34 |
A |
T |
11: 73,778,730 (GRCm39) |
M156K |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,545 (GRCm39) |
F141S |
probably benign |
Het |
Or51k1 |
A |
T |
7: 103,661,395 (GRCm39) |
C171* |
probably null |
Het |
Or52ab4 |
A |
G |
7: 102,987,393 (GRCm39) |
N44S |
probably damaging |
Het |
Otof |
T |
A |
5: 30,528,049 (GRCm39) |
K1931N |
probably damaging |
Het |
Plcxd3 |
A |
G |
15: 4,546,349 (GRCm39) |
S118G |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,974,268 (GRCm39) |
Q58L |
probably benign |
Het |
Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
Rassf4 |
T |
C |
6: 116,622,897 (GRCm39) |
E38G |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,999,396 (GRCm39) |
Y1164N |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 92,031,628 (GRCm39) |
I83T |
probably damaging |
Het |
Scn9a |
T |
G |
2: 66,357,143 (GRCm39) |
K1053Q |
probably damaging |
Het |
Sgsm1 |
G |
T |
5: 113,392,894 (GRCm39) |
Q1087K |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 40,017,914 (GRCm39) |
D40G |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,689,885 (GRCm39) |
D117G |
probably damaging |
Het |
Slc2a9 |
T |
A |
5: 38,637,487 (GRCm39) |
|
probably benign |
Het |
Slc4a1 |
A |
G |
11: 102,248,741 (GRCm39) |
|
probably benign |
Het |
Smarca1 |
T |
A |
X: 46,912,303 (GRCm39) |
Q982L |
probably benign |
Het |
Sp100 |
T |
A |
1: 85,608,831 (GRCm39) |
I320N |
possibly damaging |
Het |
Stx8 |
A |
T |
11: 68,000,188 (GRCm39) |
R209S |
probably null |
Het |
Sulf2 |
T |
C |
2: 165,925,799 (GRCm39) |
T453A |
possibly damaging |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tenm2 |
T |
A |
11: 35,915,607 (GRCm39) |
I1976F |
possibly damaging |
Het |
Tenm3 |
G |
A |
8: 48,730,745 (GRCm39) |
S1341L |
probably damaging |
Het |
Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
Tmem200c |
A |
G |
17: 69,147,506 (GRCm39) |
K30E |
probably damaging |
Het |
Tmem225 |
A |
G |
9: 40,061,043 (GRCm39) |
I117V |
possibly damaging |
Het |
Tmt1a3 |
A |
T |
15: 100,233,264 (GRCm39) |
N152Y |
possibly damaging |
Het |
Top2a |
A |
G |
11: 98,892,243 (GRCm39) |
I1073T |
probably damaging |
Het |
Trps1 |
A |
C |
15: 50,695,256 (GRCm39) |
Y296* |
probably null |
Het |
Tubg1 |
T |
C |
11: 101,016,162 (GRCm39) |
M377T |
probably benign |
Het |
Tut7 |
A |
G |
13: 59,957,301 (GRCm39) |
V7A |
probably damaging |
Het |
Vmn1r35 |
G |
A |
6: 66,656,497 (GRCm39) |
H58Y |
probably benign |
Het |
Vmn1r56 |
G |
A |
7: 5,199,429 (GRCm39) |
H63Y |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,615,189 (GRCm39) |
|
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,603 (GRCm39) |
S303P |
possibly damaging |
Het |
Wdr49 |
C |
T |
3: 75,338,383 (GRCm39) |
|
probably null |
Het |
Wdr49 |
T |
C |
3: 75,357,197 (GRCm39) |
|
probably null |
Het |
Zzef1 |
T |
C |
11: 72,804,004 (GRCm39) |
L2582P |
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 |
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 |
R8511:Acan
|
UTSW |
7 |
78,747,683 (GRCm39) |
missense |
possibly damaging |
0.94 |
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'- CAGAGAAAGTGAAGCTCCTTTCCCG -3'
(R):5'- AGACTGCTCATTTCTGACCAGCAAG -3'
Sequencing Primer
(F):5'- CCTCCAGGGCATATCATTTAAGG -3'
(R):5'- TGACCAGCAAGGCTCTTTTC -3'
|
Posted On |
2013-07-11 |