Incidental Mutation 'R1761:Acan'
ID |
192771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acan
|
Ensembl Gene |
ENSMUSG00000030607 |
Gene Name |
aggrecan |
Synonyms |
Agc1, Cspg1, b2b183Clo |
MMRRC Submission |
039793-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1761 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 78743833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 621
(Y621*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
AlphaFold |
Q61282 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032835
AA Change: Y621*
|
SMART Domains |
Protein: ENSMUSP00000032835 Gene: ENSMUSG00000030607 AA Change: Y621*
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 |
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
Aig1 |
T |
C |
10: 13,566,328 (GRCm39) |
Y152C |
probably damaging |
Het |
Arhgap33 |
C |
T |
7: 30,232,488 (GRCm39) |
|
probably null |
Het |
Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
Cbx5 |
T |
C |
15: 103,121,607 (GRCm39) |
D10G |
possibly damaging |
Het |
Ccdc191 |
A |
G |
16: 43,763,873 (GRCm39) |
I445V |
probably benign |
Het |
Cdk4 |
T |
A |
10: 126,900,546 (GRCm39) |
|
probably benign |
Het |
Chil6 |
A |
G |
3: 106,301,654 (GRCm39) |
F149L |
probably damaging |
Het |
Cntn5 |
T |
C |
9: 10,172,059 (GRCm39) |
T42A |
probably benign |
Het |
Cpn2 |
A |
T |
16: 30,079,014 (GRCm39) |
I229N |
probably damaging |
Het |
Cpne8 |
A |
G |
15: 90,532,821 (GRCm39) |
V62A |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,837,431 (GRCm39) |
|
probably null |
Het |
Crnn |
A |
T |
3: 93,055,958 (GRCm39) |
H248L |
probably benign |
Het |
Csn1s1 |
A |
G |
5: 87,826,894 (GRCm39) |
S254G |
probably benign |
Het |
Cubn |
A |
G |
2: 13,494,128 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
Dpp3 |
A |
G |
19: 4,971,177 (GRCm39) |
L220P |
probably benign |
Het |
Fam110a |
T |
C |
2: 151,812,125 (GRCm39) |
E215G |
probably benign |
Het |
Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,941,638 (GRCm39) |
V177A |
possibly damaging |
Het |
Fzd8 |
C |
T |
18: 9,213,643 (GRCm39) |
R242C |
probably damaging |
Het |
Gimap5 |
A |
T |
6: 48,730,195 (GRCm39) |
Q255L |
probably damaging |
Het |
Gm4787 |
A |
G |
12: 81,423,950 (GRCm39) |
L736S |
probably benign |
Het |
Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
Gpr179 |
A |
C |
11: 97,225,932 (GRCm39) |
S2074R |
probably benign |
Het |
Hddc2 |
G |
T |
10: 31,202,135 (GRCm39) |
D161Y |
probably damaging |
Het |
Hlcs |
T |
C |
16: 94,068,866 (GRCm39) |
D265G |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,241,984 (GRCm39) |
I573F |
possibly damaging |
Het |
Il1b |
T |
C |
2: 129,207,101 (GRCm39) |
K220E |
probably damaging |
Het |
Il5 |
T |
C |
11: 53,614,557 (GRCm39) |
I66T |
probably damaging |
Het |
Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
Lmf2 |
A |
G |
15: 89,236,916 (GRCm39) |
V442A |
possibly damaging |
Het |
Mcm2 |
T |
C |
6: 88,866,770 (GRCm39) |
I412M |
possibly damaging |
Het |
Mlkl |
T |
A |
8: 112,060,355 (GRCm39) |
L18F |
possibly damaging |
Het |
Mug2 |
C |
A |
6: 122,051,664 (GRCm39) |
H949N |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,275,091 (GRCm39) |
F51L |
probably damaging |
Het |
Or52j3 |
T |
G |
7: 102,836,325 (GRCm39) |
C172W |
probably damaging |
Het |
Or7d10 |
A |
T |
9: 19,832,445 (GRCm39) |
*313C |
probably null |
Het |
Or8k18 |
T |
G |
2: 86,085,383 (GRCm39) |
Y218S |
probably damaging |
Het |
P3h2 |
T |
C |
16: 25,803,800 (GRCm39) |
E322G |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,342,438 (GRCm39) |
Y182H |
probably benign |
Het |
Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
T |
C |
13: 67,104,476 (GRCm39) |
V116A |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
Scg3 |
T |
A |
9: 75,584,040 (GRCm39) |
I154F |
probably damaging |
Het |
Scgn |
A |
T |
13: 24,143,689 (GRCm39) |
F225Y |
probably damaging |
Het |
Sec61b |
T |
C |
4: 47,480,137 (GRCm39) |
C58R |
possibly damaging |
Het |
Slc25a46 |
G |
T |
18: 31,740,315 (GRCm39) |
Q96K |
possibly damaging |
Het |
Spmip6 |
G |
A |
4: 41,507,223 (GRCm39) |
P109L |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,659,382 (GRCm39) |
F1173L |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,134,017 (GRCm39) |
C893S |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,380,641 (GRCm39) |
E509G |
probably damaging |
Het |
Timm10b |
C |
T |
7: 105,332,915 (GRCm39) |
R897* |
probably null |
Het |
Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
Tti1 |
T |
C |
2: 157,849,617 (GRCm39) |
I541V |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
Vgll3 |
A |
T |
16: 65,636,614 (GRCm39) |
D310V |
probably damaging |
Het |
Vmac |
A |
G |
17: 57,022,788 (GRCm39) |
L74P |
probably damaging |
Het |
Zbtb1 |
A |
T |
12: 76,432,595 (GRCm39) |
K194* |
probably null |
Het |
Zfp429 |
A |
G |
13: 67,544,195 (GRCm39) |
M76T |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,460 (GRCm39) |
C230S |
possibly damaging |
Het |
Zfp980 |
A |
G |
4: 145,428,612 (GRCm39) |
Y447C |
probably damaging |
Het |
Zfp985 |
A |
G |
4: 147,668,502 (GRCm39) |
T457A |
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 |
|
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'- TGGTGGATATGAACAGCCCTGGTG -3'
(R):5'- GCAGAAGGCATGGTGCTTTGAC -3'
Sequencing Primer
(F):5'- CCTGGTGATCGGGGTGG -3'
(R):5'- TTGACAGTGGGTCAGGGAG -3'
|
Posted On |
2014-05-23 |