Incidental Mutation 'R8324:Acan'
| ID |
643985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acan
|
| Ensembl Gene |
ENSMUSG00000030607 |
| Gene Name |
aggrecan |
| Synonyms |
Agc1, Cspg1, b2b183Clo |
| MMRRC Submission |
067725-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8324 (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 78740804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 390
(E390G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
| AlphaFold |
Q61282 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032835
AA Change: E390G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E390G
| 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 |
|
| Meta Mutation Damage Score |
0.4411 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,086,368 (GRCm39) |
N413S |
probably damaging |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| Caprin1 |
G |
A |
2: 103,613,526 (GRCm39) |
R79* |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,806 (GRCm39) |
V507A |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,913,706 (GRCm39) |
|
probably null |
Het |
| Chst5 |
A |
T |
8: 112,617,140 (GRCm39) |
L160Q |
probably benign |
Het |
| Col11a1 |
C |
G |
3: 113,958,059 (GRCm39) |
P1111R |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,632,853 (GRCm39) |
E1470D |
probably benign |
Het |
| Cpped1 |
T |
A |
16: 11,623,340 (GRCm39) |
T274S |
probably benign |
Het |
| Ctnnbl1 |
G |
A |
2: 157,621,735 (GRCm39) |
E75K |
probably damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,878,502 (GRCm39) |
S15P |
probably benign |
Het |
| Ddx46 |
T |
C |
13: 55,811,727 (GRCm39) |
S643P |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,173,814 (GRCm39) |
Q16R |
probably null |
Het |
| Dhrs2 |
T |
A |
14: 55,476,221 (GRCm39) |
V147E |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,347,011 (GRCm39) |
R2498L |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,781,901 (GRCm39) |
I93F |
probably benign |
Het |
| Eef1e1 |
T |
A |
13: 38,839,045 (GRCm39) |
D104V |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,808,971 (GRCm39) |
Y55C |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,858,885 (GRCm39) |
I955L |
probably damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,770,026 (GRCm39) |
V426F |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,772,491 (GRCm39) |
E877K |
probably damaging |
Het |
| Fam234a |
C |
T |
17: 26,437,672 (GRCm39) |
V108I |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,688 (GRCm39) |
M590K |
probably damaging |
Het |
| Gm13287 |
T |
C |
4: 88,721,875 (GRCm39) |
S129P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,062,793 (GRCm39) |
S1919P |
possibly damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,229,896 (GRCm39) |
E1233G |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,254,219 (GRCm39) |
L186P |
probably damaging |
Het |
| Krt72 |
T |
A |
15: 101,690,580 (GRCm39) |
Y224F |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,427,275 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,079,506 (GRCm39) |
T914A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,974 (GRCm39) |
T129A |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,276,636 (GRCm39) |
I244F |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,306,956 (GRCm39) |
L41Q |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,743,212 (GRCm39) |
R426G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,336,114 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,673,117 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Ncapg |
T |
G |
5: 45,853,010 (GRCm39) |
H825Q |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,570 (GRCm39) |
S212P |
probably benign |
Het |
| Or52p1 |
G |
A |
7: 104,267,321 (GRCm39) |
R145H |
probably benign |
Het |
| Pak2 |
T |
C |
16: 31,871,029 (GRCm39) |
N51S |
probably benign |
Het |
| Papln |
T |
C |
12: 83,833,393 (GRCm39) |
Y1132H |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,170,426 (GRCm39) |
R134S |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,818 (GRCm39) |
E990G |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,760 (GRCm39) |
W1394R |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,534,771 (GRCm39) |
N285D |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,122,427 (GRCm39) |
L39R |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,375,960 (GRCm39) |
S897P |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,954,312 (GRCm39) |
T131A |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,290,738 (GRCm39) |
T255S |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rictor |
T |
A |
15: 6,775,043 (GRCm39) |
V125E |
probably damaging |
Het |
| Rps6ka5 |
C |
T |
12: 100,524,746 (GRCm39) |
D664N |
possibly damaging |
Het |
| Rreb1 |
T |
A |
13: 38,131,597 (GRCm39) |
W1584R |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,631,195 (GRCm39) |
I142T |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,343 (GRCm39) |
T951A |
probably benign |
Het |
| Slc15a2 |
T |
G |
16: 36,579,669 (GRCm39) |
N359T |
probably damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,314,373 (GRCm39) |
*603Q |
probably null |
Het |
| Sptb |
T |
C |
12: 76,665,936 (GRCm39) |
D894G |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,343,444 (GRCm39) |
L17P |
probably damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,733,205 (GRCm39) |
|
probably null |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,403 (GRCm39) |
F86L |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,484 (GRCm39) |
Y482C |
unknown |
Het |
| Ttc9b |
G |
T |
7: 27,353,394 (GRCm39) |
A15S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,588,078 (GRCm39) |
I410N |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,727 (GRCm39) |
K237* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,215,745 (GRCm39) |
|
probably null |
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 |
|
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'- GCTCTTGTCCCCTCAAAACAGC -3'
(R):5'- AGATGGTCACTCGCACTACC -3'
Sequencing Primer
(F):5'- GCCCTGAGCTCAGCACTAAAG -3'
(R):5'- TGTGACTTCTGCAGGAAAGCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation