Incidental Mutation 'R9509:Acan'
ID |
718001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acan
|
Ensembl Gene |
ENSMUSG00000030607 |
Gene Name |
aggrecan |
Synonyms |
Agc1, Cspg1, b2b183Clo |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9509 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 78740768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 378
(P378L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
AlphaFold |
Q61282 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032835
AA Change: P378L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032835 Gene: ENSMUSG00000030607 AA Change: P378L
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: 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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
TTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCC |
3: 137,771,595 (GRCm39) |
|
probably benign |
Het |
Akap6 |
A |
G |
12: 53,189,021 (GRCm39) |
D2145G |
probably damaging |
Het |
Akap9 |
A |
T |
5: 4,096,349 (GRCm39) |
D2408V |
probably benign |
Het |
Apol10a |
C |
A |
15: 77,372,968 (GRCm39) |
Y201* |
probably null |
Het |
Arhgef4 |
T |
C |
1: 34,762,772 (GRCm39) |
I676T |
unknown |
Het |
Capn13 |
T |
C |
17: 73,644,446 (GRCm39) |
H361R |
probably benign |
Het |
Ccdc88a |
G |
A |
11: 29,414,143 (GRCm39) |
V894I |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,099,485 (GRCm39) |
L1655Q |
possibly damaging |
Het |
Chi3l1 |
G |
A |
1: 134,116,413 (GRCm39) |
E307K |
probably damaging |
Het |
Dhfr |
T |
A |
13: 92,504,739 (GRCm39) |
I139N |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,072,985 (GRCm39) |
S422G |
probably benign |
Het |
Dspp |
C |
A |
5: 104,325,657 (GRCm39) |
D673E |
unknown |
Het |
Dst |
G |
T |
1: 33,947,465 (GRCm39) |
W38L |
possibly damaging |
Het |
Dynlt1b |
A |
T |
17: 6,702,415 (GRCm39) |
E26D |
probably benign |
Het |
Dysf |
A |
T |
6: 84,187,779 (GRCm39) |
Y2059F |
probably damaging |
Het |
Efcab5 |
G |
A |
11: 76,994,977 (GRCm39) |
S1198F |
possibly damaging |
Het |
Erp44 |
T |
C |
4: 48,208,750 (GRCm39) |
I237V |
probably benign |
Het |
Exosc2 |
G |
A |
2: 31,564,755 (GRCm39) |
V107I |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,200,713 (GRCm39) |
V787A |
possibly damaging |
Het |
Fbn2 |
C |
G |
18: 58,247,550 (GRCm39) |
G448A |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,977,217 (GRCm39) |
V164A |
possibly damaging |
Het |
Gabpa |
G |
A |
16: 84,649,395 (GRCm39) |
V201I |
possibly damaging |
Het |
Gm12253 |
G |
A |
11: 58,330,771 (GRCm39) |
V177M |
probably benign |
Het |
Il2rb |
C |
A |
15: 78,374,416 (GRCm39) |
W84L |
probably damaging |
Het |
Kank4 |
T |
A |
4: 98,663,104 (GRCm39) |
T695S |
possibly damaging |
Het |
Klhl29 |
T |
C |
12: 5,190,629 (GRCm39) |
Q122R |
probably damaging |
Het |
L3mbtl1 |
A |
G |
2: 162,809,303 (GRCm39) |
E670G |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,188,955 (GRCm39) |
Y112C |
probably damaging |
Het |
Lins1 |
C |
T |
7: 66,358,119 (GRCm39) |
Q85* |
probably null |
Het |
Lpcat1 |
T |
A |
13: 73,642,951 (GRCm39) |
V175E |
probably damaging |
Het |
Mdm1 |
T |
C |
10: 117,982,730 (GRCm39) |
S122P |
probably damaging |
Het |
Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,904,543 (GRCm39) |
N197S |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,792,971 (GRCm39) |
L83* |
probably null |
Het |
Nlrc3 |
T |
C |
16: 3,782,680 (GRCm39) |
D259G |
probably damaging |
Het |
Nsf |
A |
T |
11: 103,754,074 (GRCm39) |
D487E |
probably benign |
Het |
Or2n1e |
A |
G |
17: 38,586,281 (GRCm39) |
I206M |
probably benign |
Het |
Or2y1 |
A |
G |
11: 49,385,476 (GRCm39) |
I39V |
probably benign |
Het |
Or5p50 |
T |
A |
7: 107,422,440 (GRCm39) |
T79S |
probably benign |
Het |
Palb2 |
T |
A |
7: 121,727,399 (GRCm39) |
K157M |
probably damaging |
Het |
Pbrm1 |
T |
C |
14: 30,806,914 (GRCm39) |
S1114P |
probably damaging |
Het |
Pdia6 |
T |
A |
12: 17,330,989 (GRCm39) |
M364K |
probably damaging |
Het |
Pf4 |
G |
T |
5: 90,921,048 (GRCm39) |
G83W |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,338,721 (GRCm39) |
M79T |
probably benign |
Het |
Pip4p2 |
T |
A |
4: 14,892,485 (GRCm39) |
C116* |
probably null |
Het |
Polr3b |
T |
G |
10: 84,467,650 (GRCm39) |
Y77D |
probably damaging |
Het |
Pomt2 |
T |
A |
12: 87,184,802 (GRCm39) |
H208L |
possibly damaging |
Het |
Pprc1 |
A |
T |
19: 46,051,838 (GRCm39) |
K456M |
unknown |
Het |
Rasgef1a |
A |
T |
6: 118,061,391 (GRCm39) |
K119* |
probably null |
Het |
Rbbp6 |
T |
A |
7: 122,597,791 (GRCm39) |
Y701N |
unknown |
Het |
Relch |
A |
G |
1: 105,614,704 (GRCm39) |
E216G |
probably damaging |
Het |
Reln |
A |
T |
5: 22,549,198 (GRCm39) |
V70E |
possibly damaging |
Het |
Rgs17 |
T |
C |
10: 5,812,576 (GRCm39) |
N41S |
probably benign |
Het |
Rhbdf1 |
A |
T |
11: 32,165,055 (GRCm39) |
I106N |
possibly damaging |
Het |
Robo1 |
T |
A |
16: 72,759,167 (GRCm39) |
N393K |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
Scart2 |
T |
A |
7: 139,879,644 (GRCm39) |
Y1093* |
probably null |
Het |
Scnn1a |
A |
T |
6: 125,319,604 (GRCm39) |
D495V |
probably damaging |
Het |
Serpinf2 |
G |
A |
11: 75,328,895 (GRCm39) |
P45L |
probably benign |
Het |
Setdb1 |
A |
C |
3: 95,261,900 (GRCm39) |
I122S |
possibly damaging |
Het |
Slc4a9 |
A |
T |
18: 36,668,443 (GRCm39) |
M701L |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,132,229 (GRCm39) |
N260K |
probably benign |
Het |
Supv3l1 |
T |
C |
10: 62,265,411 (GRCm39) |
T710A |
probably benign |
Het |
Syne1 |
A |
T |
10: 5,298,927 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,766,292 (GRCm39) |
Y743* |
probably null |
Het |
Tgm2 |
A |
T |
2: 157,969,210 (GRCm39) |
Y388* |
probably null |
Het |
Tor3a |
A |
G |
1: 156,483,499 (GRCm39) |
S308P |
possibly damaging |
Het |
Trim12a |
T |
C |
7: 103,953,551 (GRCm39) |
K187E |
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,625,249 (GRCm39) |
|
probably null |
Het |
Uaca |
C |
T |
9: 60,779,498 (GRCm39) |
T1295M |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,648,440 (GRCm39) |
Y4682N |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,221,687 (GRCm39) |
N684S |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,404,075 (GRCm39) |
I39L |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,841,457 (GRCm39) |
M2496L |
possibly damaging |
Het |
Zbtb5 |
C |
T |
4: 44,994,332 (GRCm39) |
V351M |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,887,876 (GRCm39) |
T394S |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,112,943 (GRCm39) |
E361G |
probably damaging |
Het |
Zfp54 |
C |
A |
17: 21,654,629 (GRCm39) |
Y374* |
probably null |
Het |
Zfp869 |
C |
A |
8: 70,159,596 (GRCm39) |
G326W |
probably damaging |
Het |
Zfyve28 |
C |
T |
5: 34,354,892 (GRCm39) |
A806T |
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 |
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 |
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'- TACCTGAGTCCCTTGTGGTG -3'
(R):5'- GTGACTTCTGCAGGAAAGCC -3'
Sequencing Primer
(F):5'- AGTCCCTTGTGGTGGGCAG -3'
(R):5'- TTCTGCAGGAAAGCCCCAGG -3'
|
Posted On |
2022-07-18 |