Incidental Mutation 'R6057:Acan'
ID |
482967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acan
|
Ensembl Gene |
ENSMUSG00000030607 |
Gene Name |
aggrecan |
Synonyms |
Agc1, Cspg1, b2b183Clo |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6057 (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 78749530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 11
(S11G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
AlphaFold |
Q61282 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032835
AA Change: S1434G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032835 Gene: ENSMUSG00000030607 AA Change: S1434G
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 null
Transcript: ENSMUST00000206779
AA Change: S11G
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
A |
G |
6: 52,156,500 (GRCm39) |
|
probably benign |
Het |
Ankrd13d |
A |
C |
19: 4,332,256 (GRCm39) |
V56G |
probably damaging |
Het |
Arl15 |
A |
G |
13: 114,104,151 (GRCm39) |
Y76C |
probably damaging |
Het |
Aspg |
G |
A |
12: 112,087,432 (GRCm39) |
C296Y |
probably damaging |
Het |
Astl |
T |
A |
2: 127,187,889 (GRCm39) |
D101E |
probably benign |
Het |
Bmpr2 |
A |
G |
1: 59,881,977 (GRCm39) |
N202S |
probably benign |
Het |
Borcs7 |
T |
C |
19: 46,690,003 (GRCm39) |
*106Q |
probably null |
Het |
Brip1 |
A |
G |
11: 85,955,865 (GRCm39) |
S883P |
possibly damaging |
Het |
Cacng2 |
A |
T |
15: 78,002,991 (GRCm39) |
L34Q |
probably damaging |
Het |
Catip |
A |
C |
1: 74,402,077 (GRCm39) |
D84A |
probably damaging |
Het |
Ccdc162 |
A |
G |
10: 41,510,037 (GRCm39) |
L856S |
possibly damaging |
Het |
Ccdc38 |
A |
G |
10: 93,417,608 (GRCm39) |
K500E |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,663,122 (GRCm39) |
K21E |
probably damaging |
Het |
Cd93 |
A |
T |
2: 148,283,439 (GRCm39) |
Y636N |
probably damaging |
Het |
Cep128 |
A |
T |
12: 91,262,998 (GRCm39) |
N300K |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,269,460 (GRCm39) |
T1155A |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,447,951 (GRCm39) |
L550P |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,618,787 (GRCm39) |
Y1867C |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,249,249 (GRCm39) |
I674N |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp2d34 |
T |
C |
15: 82,500,552 (GRCm39) |
H429R |
probably benign |
Het |
Dab2ip |
T |
A |
2: 35,582,267 (GRCm39) |
C4* |
probably null |
Het |
Dcaf1 |
A |
G |
9: 106,731,446 (GRCm39) |
E641G |
probably damaging |
Het |
Dda1 |
T |
A |
8: 71,927,276 (GRCm39) |
|
probably benign |
Het |
Dmgdh |
C |
T |
13: 93,888,960 (GRCm39) |
T866I |
probably benign |
Het |
Ect2l |
T |
C |
10: 18,037,250 (GRCm39) |
T383A |
probably benign |
Het |
Ets2 |
A |
G |
16: 95,515,416 (GRCm39) |
N181D |
probably benign |
Het |
Ezh2 |
A |
G |
6: 47,529,357 (GRCm39) |
F222L |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,342,216 (GRCm39) |
L1503P |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,809,777 (GRCm39) |
A2032E |
probably damaging |
Het |
Gm1818 |
C |
T |
12: 48,602,346 (GRCm39) |
|
noncoding transcript |
Het |
Gm9493 |
A |
G |
19: 23,597,106 (GRCm39) |
S1G |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,710,942 (GRCm39) |
I868T |
possibly damaging |
Het |
Ift22 |
A |
T |
5: 136,939,987 (GRCm39) |
T17S |
possibly damaging |
Het |
Il4ra |
T |
C |
7: 125,170,735 (GRCm39) |
W216R |
probably damaging |
Het |
Kcnj6 |
A |
T |
16: 94,633,236 (GRCm39) |
W274R |
probably damaging |
Het |
Kctd19 |
G |
A |
8: 106,123,082 (GRCm39) |
H111Y |
probably damaging |
Het |
Kremen2 |
A |
G |
17: 23,961,679 (GRCm39) |
V276A |
probably benign |
Het |
Lig1 |
C |
A |
7: 13,022,598 (GRCm39) |
Q143K |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,403,359 (GRCm39) |
D2071E |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,404,536 (GRCm39) |
M475I |
probably damaging |
Het |
Mbtd1 |
G |
A |
11: 93,820,485 (GRCm39) |
A427T |
probably damaging |
Het |
Myof |
A |
G |
19: 37,915,429 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
T |
C |
9: 110,470,945 (GRCm39) |
D308G |
possibly damaging |
Het |
Ncdn |
T |
C |
4: 126,638,824 (GRCm39) |
Q665R |
probably benign |
Het |
Nkd1 |
T |
C |
8: 89,316,442 (GRCm39) |
|
probably null |
Het |
Nktr |
G |
A |
9: 121,577,455 (GRCm39) |
|
probably benign |
Het |
Npc1l1 |
A |
T |
11: 6,167,806 (GRCm39) |
M995K |
possibly damaging |
Het |
Or10ag59 |
C |
A |
2: 87,406,363 (GRCm39) |
R312S |
probably benign |
Het |
Or11g7 |
A |
T |
14: 50,691,201 (GRCm39) |
R231* |
probably null |
Het |
Or14n1-ps1 |
T |
A |
7: 86,092,397 (GRCm39) |
C69* |
probably null |
Het |
Padi4 |
T |
C |
4: 140,487,351 (GRCm39) |
T184A |
probably damaging |
Het |
Pgm2l1 |
C |
T |
7: 99,915,881 (GRCm39) |
P409S |
probably benign |
Het |
Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,902,006 (GRCm39) |
L513P |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,371,716 (GRCm39) |
T1806A |
probably benign |
Het |
Psd |
T |
C |
19: 46,311,753 (GRCm39) |
E309G |
possibly damaging |
Het |
Qtrt1 |
C |
T |
9: 21,323,299 (GRCm39) |
T50I |
probably damaging |
Het |
Rims2 |
A |
C |
15: 39,538,416 (GRCm39) |
T1320P |
probably damaging |
Het |
Scn11a |
T |
G |
9: 119,594,514 (GRCm39) |
N1293T |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,872,548 (GRCm39) |
F529S |
possibly damaging |
Het |
Sec14l4 |
A |
T |
11: 3,985,142 (GRCm39) |
D25V |
possibly damaging |
Het |
Sema3a |
C |
T |
5: 13,615,832 (GRCm39) |
R419C |
probably damaging |
Het |
Slc12a1 |
T |
C |
2: 125,032,133 (GRCm39) |
Y595H |
probably damaging |
Het |
Slc25a28 |
A |
T |
19: 43,655,364 (GRCm39) |
H170Q |
possibly damaging |
Het |
Slc26a1 |
T |
A |
5: 108,821,631 (GRCm39) |
Q86L |
probably damaging |
Het |
Slc48a1 |
T |
A |
15: 97,687,798 (GRCm39) |
W51R |
probably damaging |
Het |
Sptlc3 |
T |
A |
2: 139,423,533 (GRCm39) |
V309D |
probably damaging |
Het |
Srcap |
G |
A |
7: 127,140,528 (GRCm39) |
S1375N |
probably damaging |
Het |
Tanc1 |
C |
A |
2: 59,647,837 (GRCm39) |
H986Q |
possibly damaging |
Het |
Tbc1d4 |
A |
G |
14: 101,727,353 (GRCm39) |
V486A |
probably damaging |
Het |
Tceanc2 |
T |
C |
4: 107,004,776 (GRCm39) |
D124G |
probably damaging |
Het |
Tdrd9 |
A |
G |
12: 111,979,720 (GRCm39) |
M402V |
possibly damaging |
Het |
Tmem132d |
T |
C |
5: 127,861,934 (GRCm39) |
D729G |
probably damaging |
Het |
Tmem62 |
T |
A |
2: 120,807,943 (GRCm39) |
I55N |
probably damaging |
Het |
Tnfrsf21 |
A |
T |
17: 43,350,606 (GRCm39) |
N257Y |
possibly damaging |
Het |
Trappc3 |
T |
C |
4: 126,167,834 (GRCm39) |
L131P |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,799,900 (GRCm39) |
M814K |
possibly damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,308,226 (GRCm39) |
I671V |
probably benign |
Het |
Vwa8 |
A |
T |
14: 79,320,313 (GRCm39) |
D1108V |
probably benign |
Het |
Xrcc4 |
C |
G |
13: 90,139,198 (GRCm39) |
A241P |
possibly damaging |
Het |
Xylt1 |
T |
A |
7: 117,191,135 (GRCm39) |
D310E |
probably benign |
Het |
Zfp27 |
T |
G |
7: 29,594,444 (GRCm39) |
H507P |
possibly damaging |
Het |
Zfp341 |
C |
T |
2: 154,466,954 (GRCm39) |
P108S |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,190,816 (GRCm39) |
N76S |
probably benign |
Het |
Zfp936 |
T |
C |
7: 42,839,787 (GRCm39) |
V418A |
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 |
|
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 |
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'- CGAGGAAACATCTGGGATTCC -3'
(R):5'- AGAAGGAAAGCCACTGAGTTCC -3'
|
Posted On |
2017-07-14 |