Incidental Mutation 'R0827:Acan'
ID |
78313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acan
|
Ensembl Gene |
ENSMUSG00000030607 |
Gene Name |
aggrecan |
Synonyms |
Agc1, Cspg1, b2b183Clo |
MMRRC Submission |
039007-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0827 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78749419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1397
(S1397P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
AlphaFold |
Q61282 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032835
AA Change: S1397P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000032835 Gene: ENSMUSG00000030607 AA Change: S1397P
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
|
Meta Mutation Damage Score |
0.0844 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.6%
|
Validation Efficiency |
100% (88/88) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
C |
9: 30,832,776 (GRCm39) |
Y253C |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,333,037 (GRCm39) |
I149T |
possibly damaging |
Het |
Ankrd63 |
A |
G |
2: 118,533,034 (GRCm39) |
S296P |
possibly damaging |
Het |
Arpc1b |
T |
G |
5: 145,062,566 (GRCm39) |
C227G |
probably benign |
Het |
B4gat1 |
A |
G |
19: 5,089,725 (GRCm39) |
R241G |
possibly damaging |
Het |
Ccar2 |
T |
C |
14: 70,377,287 (GRCm39) |
N751D |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,341,973 (GRCm39) |
I221M |
probably damaging |
Het |
Cntn5 |
A |
G |
9: 9,666,943 (GRCm39) |
V1032A |
possibly damaging |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Colec10 |
G |
A |
15: 54,325,980 (GRCm39) |
C270Y |
probably damaging |
Het |
Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
Cyp2j12 |
T |
G |
4: 96,001,099 (GRCm39) |
|
probably benign |
Het |
Dennd5a |
G |
A |
7: 109,498,938 (GRCm39) |
T999M |
probably damaging |
Het |
Dusp13b |
C |
A |
14: 21,792,839 (GRCm39) |
V29L |
probably benign |
Het |
Efr3a |
A |
C |
15: 65,725,400 (GRCm39) |
D83A |
possibly damaging |
Het |
Elmod2 |
A |
G |
8: 84,043,424 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
A |
19: 8,915,830 (GRCm39) |
T640K |
probably damaging |
Het |
Eps8l1 |
T |
C |
7: 4,480,388 (GRCm39) |
V543A |
possibly damaging |
Het |
Ermn |
T |
C |
2: 57,938,263 (GRCm39) |
K117E |
probably damaging |
Het |
F830045P16Rik |
A |
G |
2: 129,314,696 (GRCm39) |
S194P |
probably benign |
Het |
Faim2 |
A |
G |
15: 99,422,617 (GRCm39) |
V60A |
probably benign |
Het |
Fancd2 |
G |
A |
6: 113,563,210 (GRCm39) |
|
probably null |
Het |
Fbxo43 |
A |
T |
15: 36,163,115 (GRCm39) |
S31T |
possibly damaging |
Het |
Gab2 |
G |
A |
7: 96,949,539 (GRCm39) |
R411Q |
probably damaging |
Het |
Gpm6a |
A |
T |
8: 55,511,918 (GRCm39) |
D264V |
probably damaging |
Het |
H1f6 |
A |
G |
13: 23,880,204 (GRCm39) |
D119G |
probably benign |
Het |
Hsp90aa1 |
T |
C |
12: 110,659,129 (GRCm39) |
E556G |
probably benign |
Het |
Ifi203 |
A |
T |
1: 173,756,029 (GRCm39) |
|
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnc3 |
A |
G |
7: 44,244,630 (GRCm39) |
T307A |
probably damaging |
Het |
Kin |
C |
A |
2: 10,095,187 (GRCm39) |
|
probably benign |
Het |
Knl1 |
T |
C |
2: 118,919,382 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,325,386 (GRCm39) |
V1404M |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,649,952 (GRCm39) |
|
probably null |
Het |
Med13l |
T |
C |
5: 118,864,312 (GRCm39) |
|
probably benign |
Het |
Mfap5 |
A |
G |
6: 122,497,879 (GRCm39) |
D39G |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,161,592 (GRCm39) |
S504P |
probably benign |
Het |
Myo3a |
T |
G |
2: 22,448,227 (GRCm39) |
Y1D |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,558,682 (GRCm39) |
|
probably benign |
Het |
Nfkbiz |
T |
C |
16: 55,636,730 (GRCm39) |
R524G |
probably damaging |
Het |
Npbwr1 |
T |
C |
1: 5,987,008 (GRCm39) |
T169A |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,846,340 (GRCm39) |
Y84H |
probably damaging |
Het |
Nxph3 |
G |
A |
11: 95,402,252 (GRCm39) |
S54L |
probably benign |
Het |
Or13a21 |
A |
G |
7: 139,999,380 (GRCm39) |
F102S |
probably damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,597 (GRCm39) |
I219T |
probably damaging |
Het |
Ostn |
A |
G |
16: 27,143,381 (GRCm39) |
N70D |
probably damaging |
Het |
Pate7 |
A |
T |
9: 35,689,147 (GRCm39) |
L12Q |
probably damaging |
Het |
Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
Pnpla6 |
A |
T |
8: 3,567,618 (GRCm39) |
M109L |
possibly damaging |
Het |
Ppil6 |
T |
A |
10: 41,370,500 (GRCm39) |
|
probably benign |
Het |
Prss46 |
A |
G |
9: 110,680,500 (GRCm39) |
N215S |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,047,152 (GRCm39) |
D371E |
probably damaging |
Het |
Ripor2 |
T |
A |
13: 24,878,169 (GRCm39) |
F315I |
probably damaging |
Het |
Rmi2 |
G |
A |
16: 10,653,104 (GRCm39) |
G51S |
probably damaging |
Het |
Scg3 |
A |
G |
9: 75,590,979 (GRCm39) |
I10T |
possibly damaging |
Het |
Scn9a |
T |
A |
2: 66,366,468 (GRCm39) |
K761* |
probably null |
Het |
Scyl2 |
A |
G |
10: 89,493,727 (GRCm39) |
L347P |
possibly damaging |
Het |
Sh3d21 |
A |
G |
4: 126,046,064 (GRCm39) |
|
probably benign |
Het |
Shc1 |
T |
A |
3: 89,334,090 (GRCm39) |
|
probably null |
Het |
Slbp |
A |
G |
5: 33,801,166 (GRCm39) |
S182P |
probably damaging |
Het |
Slc24a1 |
C |
T |
9: 64,835,472 (GRCm39) |
G885D |
probably benign |
Het |
Slc24a3 |
T |
C |
2: 145,360,412 (GRCm39) |
|
probably benign |
Het |
Sowahb |
T |
G |
5: 93,191,145 (GRCm39) |
N525H |
probably damaging |
Het |
Sppl3 |
T |
A |
5: 115,220,392 (GRCm39) |
C101* |
probably null |
Het |
Srsf5 |
A |
G |
12: 80,996,314 (GRCm39) |
K163E |
probably damaging |
Het |
Sult2a4 |
A |
G |
7: 13,718,886 (GRCm39) |
I119T |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,053,113 (GRCm39) |
|
probably benign |
Het |
Tas1r3 |
G |
A |
4: 155,945,326 (GRCm39) |
R632W |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,752,117 (GRCm39) |
|
probably null |
Het |
Tmf1 |
A |
C |
6: 97,135,011 (GRCm39) |
L1001* |
probably null |
Het |
Tnnt2 |
A |
G |
1: 135,771,534 (GRCm39) |
|
probably benign |
Het |
Trank1 |
G |
A |
9: 111,178,485 (GRCm39) |
|
probably benign |
Het |
Trdn |
A |
T |
10: 33,275,154 (GRCm39) |
|
probably benign |
Het |
Trmt6 |
A |
T |
2: 132,657,754 (GRCm39) |
V34E |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,751,640 (GRCm39) |
F1699L |
probably benign |
Het |
Ttk |
A |
G |
9: 83,725,968 (GRCm39) |
R250G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,640,248 (GRCm39) |
I13787F |
probably damaging |
Het |
Uggt1 |
T |
A |
1: 36,195,394 (GRCm39) |
|
probably null |
Het |
Ugt2b35 |
T |
A |
5: 87,155,989 (GRCm39) |
|
probably benign |
Het |
Ugt2b36 |
C |
A |
5: 87,214,234 (GRCm39) |
R470L |
possibly damaging |
Het |
Unk |
A |
G |
11: 115,943,935 (GRCm39) |
D352G |
possibly damaging |
Het |
Vmn2r77 |
G |
T |
7: 86,451,224 (GRCm39) |
C370F |
probably damaging |
Het |
Vmn2r85 |
A |
G |
10: 130,265,387 (GRCm39) |
I32T |
possibly damaging |
Het |
Zfp637 |
A |
G |
6: 117,822,405 (GRCm39) |
I178V |
possibly damaging |
Het |
Zfp943 |
A |
G |
17: 22,211,071 (GRCm39) |
|
probably null |
Het |
Zyg11a |
A |
G |
4: 108,067,239 (GRCm39) |
|
probably benign |
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 |
|
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'- TGGTCTCCCTTCAGGAACTGAACTC -3'
(R):5'- GTAATGCCAGAAGACTCTCCACTGC -3'
Sequencing Primer
(F):5'- CCTTCAGGAACTGAACTCAGTGG -3'
(R):5'- AAGACTCTCCACTGCCACTTATG -3'
|
Posted On |
2013-10-16 |