Incidental Mutation 'R9645:Acan'
| ID |
726206 |
| 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 # |
R9645 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 78749653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1475
(V1475F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
| AlphaFold |
Q61282 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032835
AA Change: V1475F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: V1475F
| 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 benign
Transcript: ENSMUST00000206779
AA Change: V52F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,644,793 (GRCm39) |
V226A |
probably benign |
Het |
| Acin1 |
T |
A |
14: 54,901,913 (GRCm39) |
R626S |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,249,121 (GRCm39) |
K662R |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,687,388 (GRCm39) |
N309T |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,545,062 (GRCm39) |
S1092L |
probably benign |
Het |
| B4galt7 |
C |
T |
13: 55,756,556 (GRCm39) |
H257Y |
probably damaging |
Het |
| BC051665 |
G |
T |
13: 60,932,545 (GRCm39) |
Q47K |
possibly damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,512 (GRCm39) |
F1090L |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,494,543 (GRCm39) |
V1612A |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,602,369 (GRCm39) |
D434E |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,227,083 (GRCm39) |
D297G |
probably benign |
Het |
| Celsr3 |
C |
A |
9: 108,704,691 (GRCm39) |
Y391* |
probably null |
Het |
| Cfap52 |
A |
G |
11: 67,837,179 (GRCm39) |
I194T |
possibly damaging |
Het |
| Ctif |
T |
C |
18: 75,757,352 (GRCm39) |
E67G |
probably benign |
Het |
| Cxcr6 |
T |
C |
9: 123,639,151 (GRCm39) |
F58L |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,593 (GRCm39) |
E142G |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,115,750 (GRCm39) |
R1549S |
possibly damaging |
Het |
| Duxf3 |
A |
T |
10: 58,066,803 (GRCm39) |
H75Q |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,051,052 (GRCm39) |
I500N |
probably damaging |
Het |
| F13a1 |
A |
T |
13: 37,082,154 (GRCm39) |
S517T |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,719,316 (GRCm39) |
R38C |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,667,629 (GRCm39) |
N788S |
probably benign |
Het |
| Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
| Gal3st2b |
T |
C |
1: 93,866,328 (GRCm39) |
S10P |
probably damaging |
Het |
| Gm6899 |
G |
A |
11: 26,543,592 (GRCm39) |
C53Y |
unknown |
Het |
| Hps3 |
T |
C |
3: 20,084,831 (GRCm39) |
E119G |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,038,767 (GRCm39) |
E135G |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,032,583 (GRCm39) |
T1155M |
probably benign |
Het |
| Kcna6 |
G |
A |
6: 126,716,022 (GRCm39) |
A289V |
probably benign |
Het |
| Kcnh5 |
T |
C |
12: 75,134,191 (GRCm39) |
M453V |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,131,320 (GRCm39) |
V75A |
possibly damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,450,431 (GRCm39) |
T1432S |
unknown |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltbp3 |
C |
G |
19: 5,802,099 (GRCm39) |
N758K |
probably damaging |
Het |
| Map6d1 |
T |
A |
16: 20,055,377 (GRCm39) |
H153L |
possibly damaging |
Het |
| Mefv |
A |
G |
16: 3,528,782 (GRCm39) |
L583P |
probably damaging |
Het |
| Mrps28 |
T |
C |
3: 8,867,389 (GRCm39) |
T160A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,869,390 (GRCm39) |
K1082E |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,783 (GRCm39) |
T2297A |
possibly damaging |
Het |
| Mx1 |
G |
T |
16: 97,253,409 (GRCm39) |
D338E |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,399,204 (GRCm39) |
R1120H |
probably benign |
Het |
| Nif3l1 |
T |
C |
1: 58,487,074 (GRCm39) |
F87L |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,713 (GRCm39) |
M202L |
probably benign |
Het |
| Or4p22 |
T |
C |
2: 88,317,373 (GRCm39) |
V99A |
possibly damaging |
Het |
| Pex10 |
T |
A |
4: 155,153,264 (GRCm39) |
L111Q |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,154,130 (GRCm39) |
|
probably null |
Het |
| Pigp |
A |
T |
16: 94,166,278 (GRCm39) |
Y143* |
probably null |
Het |
| Pou2af2 |
A |
G |
9: 51,229,579 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
A |
G |
17: 35,381,176 (GRCm39) |
|
probably null |
Het |
| Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
| Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,826,421 (GRCm39) |
S97P |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,220,437 (GRCm39) |
E482G |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,948,148 (GRCm39) |
|
probably null |
Het |
| Scp2 |
A |
T |
4: 107,948,519 (GRCm39) |
Y197N |
probably benign |
Het |
| Serpinb10 |
T |
C |
1: 107,474,488 (GRCm39) |
F217L |
possibly damaging |
Het |
| Shank3 |
T |
G |
15: 89,409,453 (GRCm39) |
M604R |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,184,488 (GRCm39) |
S238P |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,986,410 (GRCm39) |
D237G |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,299,701 (GRCm39) |
S871P |
possibly damaging |
Het |
| Tmem132d |
A |
G |
5: 128,346,075 (GRCm39) |
F149S |
probably damaging |
Het |
| Tmem25 |
C |
T |
9: 44,706,515 (GRCm39) |
E333K |
|
Het |
| Togaram1 |
T |
A |
12: 65,066,082 (GRCm39) |
Y1695* |
probably null |
Het |
| Tox3 |
G |
A |
8: 90,984,574 (GRCm39) |
P202S |
probably damaging |
Het |
| Trim34b |
T |
A |
7: 103,980,474 (GRCm39) |
N187K |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,841,081 (GRCm39) |
S1488P |
probably benign |
Het |
| Vps26a |
A |
C |
10: 62,305,791 (GRCm39) |
V124G |
probably benign |
Het |
| Vps50 |
T |
G |
6: 3,516,706 (GRCm39) |
S63A |
possibly damaging |
Het |
| Wbp4 |
T |
A |
14: 79,707,553 (GRCm39) |
E186V |
possibly damaging |
Het |
| Zfp52 |
A |
G |
17: 21,781,937 (GRCm39) |
D595G |
possibly damaging |
Het |
| Zfr2 |
C |
A |
10: 81,084,252 (GRCm39) |
S1* |
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 |
|
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 |
|
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'- ACAGTCCTCTGGTATAACATCTGTG -3'
(R):5'- AAGCTGCTCCCAGTCTCAAC -3'
Sequencing Primer
(F):5'- CATCTGTGAGTGGAGAAACCTCTG -3'
(R):5'- AGGCCACTGAACTCTGGAGTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation