Incidental Mutation 'R7220:Acan'
ID |
561733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acan
|
Ensembl Gene |
ENSMUSG00000030607 |
Gene Name |
aggrecan |
Synonyms |
Agc1, Cspg1, b2b183Clo |
MMRRC Submission |
045292-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7220 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78757896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 506
(N506S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (75/75) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,837,337 (GRCm39) |
H325Q |
probably damaging |
Het |
Aasdh |
T |
C |
5: 77,049,772 (GRCm39) |
I75V |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,826,667 (GRCm39) |
D438N |
possibly damaging |
Het |
Abca8a |
T |
A |
11: 109,980,793 (GRCm39) |
I82F |
probably benign |
Het |
Abca8b |
G |
T |
11: 109,872,543 (GRCm39) |
N19K |
probably damaging |
Het |
Alox12e |
C |
A |
11: 70,206,731 (GRCm39) |
R652L |
probably benign |
Het |
Atad3a |
A |
G |
4: 155,838,498 (GRCm39) |
V173A |
probably benign |
Het |
Atl3 |
A |
G |
19: 7,506,433 (GRCm39) |
K326R |
probably null |
Het |
Atm |
G |
T |
9: 53,423,217 (GRCm39) |
C636* |
probably null |
Het |
Atp2c2 |
G |
A |
8: 120,472,300 (GRCm39) |
M451I |
probably benign |
Het |
Best1 |
A |
T |
19: 9,969,479 (GRCm39) |
M193K |
probably benign |
Het |
Bmper |
G |
T |
9: 23,310,651 (GRCm39) |
G362C |
probably damaging |
Het |
Brd4 |
T |
A |
17: 32,444,557 (GRCm39) |
Y139F |
unknown |
Het |
Bzw2 |
A |
T |
12: 36,173,950 (GRCm39) |
I108N |
possibly damaging |
Het |
Cbs |
C |
A |
17: 31,838,191 (GRCm39) |
V353L |
probably benign |
Het |
Ceacam20 |
A |
G |
7: 19,701,678 (GRCm39) |
T22A |
probably damaging |
Het |
Ckap2l |
C |
T |
2: 129,117,436 (GRCm39) |
E580K |
probably damaging |
Het |
Ckmt1 |
T |
C |
2: 121,189,374 (GRCm39) |
L15P |
possibly damaging |
Het |
Clec18a |
G |
T |
8: 111,808,204 (GRCm39) |
P66H |
probably benign |
Het |
Cma1 |
G |
T |
14: 56,180,120 (GRCm39) |
T95K |
probably benign |
Het |
Csmd3 |
A |
G |
15: 48,320,994 (GRCm39) |
V272A |
probably damaging |
Het |
Ctnna3 |
A |
T |
10: 64,670,368 (GRCm39) |
E632D |
probably benign |
Het |
Ctsc |
T |
C |
7: 87,946,361 (GRCm39) |
L130P |
probably damaging |
Het |
Frmpd2 |
A |
T |
14: 33,229,432 (GRCm39) |
R339S |
probably damaging |
Het |
Frrs1 |
C |
A |
3: 116,674,425 (GRCm39) |
S69* |
probably null |
Het |
Gcc2 |
A |
T |
10: 58,116,416 (GRCm39) |
E1108D |
probably benign |
Het |
Gkn1 |
A |
T |
6: 87,326,135 (GRCm39) |
|
probably null |
Het |
Gtf2a1 |
A |
T |
12: 91,534,498 (GRCm39) |
M252K |
probably benign |
Het |
H2-Ob |
T |
C |
17: 34,460,234 (GRCm39) |
F115S |
probably damaging |
Het |
Ighv1-53 |
T |
C |
12: 115,122,135 (GRCm39) |
N80S |
probably benign |
Het |
Ighv1-67 |
T |
C |
12: 115,567,666 (GRCm39) |
K82R |
probably benign |
Het |
Ints1 |
A |
T |
5: 139,747,828 (GRCm39) |
I1193N |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,549,923 (GRCm39) |
F1353L |
probably damaging |
Het |
Luc7l |
C |
T |
17: 26,472,219 (GRCm39) |
|
probably benign |
Het |
Man1a |
A |
C |
10: 53,796,331 (GRCm39) |
S454A |
possibly damaging |
Het |
Mars2 |
C |
A |
1: 55,277,222 (GRCm39) |
A275D |
probably damaging |
Het |
Nrde2 |
A |
G |
12: 100,097,178 (GRCm39) |
V874A |
probably benign |
Het |
Ociad1 |
A |
G |
5: 73,470,809 (GRCm39) |
T244A |
probably benign |
Het |
Or10j2 |
A |
G |
1: 173,097,811 (GRCm39) |
Y23C |
possibly damaging |
Het |
Or3a10 |
A |
T |
11: 73,935,589 (GRCm39) |
D170E |
possibly damaging |
Het |
Or8c9 |
A |
T |
9: 38,241,046 (GRCm39) |
L51F |
probably damaging |
Het |
Ovca2 |
A |
G |
11: 75,069,501 (GRCm39) |
C41R |
possibly damaging |
Het |
Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,178,441 (GRCm39) |
S566N |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,135,297 (GRCm39) |
I1038M |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,593,350 (GRCm39) |
T1588S |
possibly damaging |
Het |
Ppig |
A |
G |
2: 69,580,320 (GRCm39) |
D618G |
unknown |
Het |
Pramel17 |
A |
G |
4: 101,694,565 (GRCm39) |
F106S |
probably benign |
Het |
Prorp |
G |
A |
12: 55,351,200 (GRCm39) |
V170M |
possibly damaging |
Het |
Prss51 |
A |
T |
14: 64,333,444 (GRCm39) |
K18* |
probably null |
Het |
Ptpra |
T |
A |
2: 130,386,417 (GRCm39) |
D622E |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,725,988 (GRCm39) |
F1431L |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,044,479 (GRCm39) |
I486V |
probably benign |
Het |
Rnpc3 |
G |
A |
3: 113,422,004 (GRCm39) |
A77V |
probably benign |
Het |
Rtl10 |
T |
A |
16: 18,320,026 (GRCm39) |
C85* |
probably null |
Het |
Skint10 |
A |
G |
4: 112,586,170 (GRCm39) |
S149P |
probably benign |
Het |
Slc17a8 |
A |
C |
10: 89,412,275 (GRCm39) |
V570G |
probably benign |
Het |
Slc25a42 |
A |
T |
8: 70,642,148 (GRCm39) |
V98E |
probably damaging |
Het |
Smco2 |
A |
G |
6: 146,760,363 (GRCm39) |
E73G |
probably benign |
Het |
Ss18 |
T |
C |
18: 14,812,477 (GRCm39) |
Y38C |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,453,540 (GRCm39) |
C2909* |
probably null |
Het |
Tbccd1 |
A |
G |
16: 22,652,747 (GRCm39) |
Y125H |
probably benign |
Het |
Tdrd9 |
A |
G |
12: 111,980,888 (GRCm39) |
T446A |
probably damaging |
Het |
Tecta |
G |
T |
9: 42,255,183 (GRCm39) |
Q1672K |
probably benign |
Het |
Tek |
G |
C |
4: 94,692,541 (GRCm39) |
W216C |
probably damaging |
Het |
Timm17a |
C |
T |
1: 135,241,313 (GRCm39) |
|
probably null |
Het |
Tlr4 |
A |
T |
4: 66,758,188 (GRCm39) |
H327L |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,234,109 (GRCm39) |
I449T |
possibly damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,559 (GRCm39) |
N28S |
probably null |
Het |
Vmn2r117 |
T |
A |
17: 23,696,177 (GRCm39) |
H410L |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,508,772 (GRCm39) |
E500G |
probably damaging |
Het |
Wif1 |
A |
G |
10: 120,926,019 (GRCm39) |
N245S |
possibly 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 |
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 |
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'- CTTTGGTTCAACAGCCCAAG -3'
(R):5'- TCTCCAGGTAGACTTGTGGG -3'
Sequencing Primer
(F):5'- CAACAGCCCAAGATGGTGGC -3'
(R):5'- TAGACTTGTGGGCCCCAG -3'
|
Posted On |
2019-06-26 |