Incidental Mutation 'R5996:Acan'
| ID |
481122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acan
|
| Ensembl Gene |
ENSMUSG00000030607 |
| Gene Name |
aggrecan |
| Synonyms |
Agc1, Cspg1, b2b183Clo |
| MMRRC Submission |
044175-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5996 (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 78761068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1927
(T1927A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
[ENSMUST00000205782]
[ENSMUST00000206092]
|
| AlphaFold |
Q61282 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032835
AA Change: T1927A
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: T1927A
| 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: ENSMUST00000205782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206092
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206779
AA Change: T542A
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
97% (69/71) |
| 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 |
|---|
| 1700093K21Rik |
A |
G |
11: 23,468,928 (GRCm39) |
M1T |
probably null |
Het |
| A2m |
T |
A |
6: 121,636,353 (GRCm39) |
W741R |
probably damaging |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Agbl4 |
A |
G |
4: 110,812,869 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,985,265 (GRCm39) |
F865S |
probably benign |
Het |
| Ccr8 |
T |
A |
9: 119,923,529 (GRCm39) |
C215S |
probably damaging |
Het |
| Cd209b |
T |
C |
8: 3,968,688 (GRCm39) |
T314A |
probably benign |
Het |
| Cd244a |
T |
G |
1: 171,409,208 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,249,356 (GRCm39) |
E849G |
possibly damaging |
Het |
| Cep57 |
A |
G |
9: 13,721,175 (GRCm39) |
V268A |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,163,305 (GRCm39) |
S626P |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,367,152 (GRCm39) |
G477R |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,433,449 (GRCm39) |
D1498G |
unknown |
Het |
| Coro6 |
T |
C |
11: 77,357,322 (GRCm39) |
V177A |
probably benign |
Het |
| Crip3 |
T |
C |
17: 46,742,210 (GRCm39) |
S202P |
possibly damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,197,619 (GRCm39) |
C38R |
probably damaging |
Het |
| Cyp4f13 |
C |
T |
17: 33,148,447 (GRCm39) |
G327R |
possibly damaging |
Het |
| Dab2 |
C |
T |
15: 6,464,792 (GRCm39) |
Q415* |
probably null |
Het |
| Dennd5b |
A |
G |
6: 148,969,593 (GRCm39) |
F287L |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,908,057 (GRCm39) |
R6K |
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,614,033 (GRCm39) |
K429E |
probably damaging |
Het |
| Fam107b |
T |
A |
2: 3,780,667 (GRCm39) |
|
probably null |
Het |
| Flt4 |
A |
T |
11: 49,541,897 (GRCm39) |
D1360V |
probably damaging |
Het |
| Gm1043 |
A |
T |
5: 37,317,168 (GRCm39) |
|
probably benign |
Het |
| Gm4894 |
A |
T |
9: 49,189,970 (GRCm39) |
I82L |
unknown |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gpr176 |
A |
C |
2: 118,114,385 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
T |
C |
15: 85,748,381 (GRCm39) |
L262P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,166,393 (GRCm39) |
W46R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,662,955 (GRCm39) |
Y557C |
probably benign |
Het |
| Kcnab2 |
A |
C |
4: 152,519,287 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
G |
A |
2: 63,014,441 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
T |
A |
1: 171,429,396 (GRCm39) |
Q230L |
probably damaging |
Het |
| Map2 |
C |
A |
1: 66,454,043 (GRCm39) |
H978N |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,388,732 (GRCm39) |
I225V |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,723,995 (GRCm39) |
N326D |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,844,537 (GRCm39) |
F85L |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,274,269 (GRCm39) |
P192L |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,923,704 (GRCm39) |
T97A |
probably benign |
Het |
| Mycbpap |
C |
T |
11: 94,404,420 (GRCm39) |
G121D |
probably benign |
Het |
| Nabp1 |
A |
G |
1: 51,510,544 (GRCm39) |
S153P |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,590,049 (GRCm39) |
F222I |
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,582,969 (GRCm39) |
V310A |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,991 (GRCm39) |
D180V |
probably benign |
Het |
| Pex6 |
C |
A |
17: 47,025,384 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
C |
A |
7: 140,839,015 (GRCm39) |
|
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,485,936 (GRCm39) |
T365A |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,499,672 (GRCm39) |
M519T |
probably benign |
Het |
| Rfx4 |
G |
A |
10: 84,675,881 (GRCm39) |
W32* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,723,666 (GRCm39) |
N4131S |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,745,306 (GRCm39) |
E580G |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,263,385 (GRCm39) |
D719G |
probably benign |
Het |
| Slfn9 |
A |
G |
11: 82,878,310 (GRCm39) |
I273T |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,205,037 (GRCm39) |
E781G |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,471,110 (GRCm39) |
P4686S |
possibly damaging |
Het |
| Stab1 |
G |
T |
14: 30,861,508 (GRCm39) |
R2500S |
probably benign |
Het |
| Stox2 |
A |
T |
8: 47,656,182 (GRCm39) |
M98K |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,213 (GRCm39) |
S633P |
probably damaging |
Het |
| Tex51 |
G |
T |
18: 32,595,545 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,491 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
T |
A |
17: 72,011,778 (GRCm39) |
F486I |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,797,113 (GRCm39) |
S140P |
possibly damaging |
Het |
| Ttc29 |
A |
T |
8: 79,003,525 (GRCm39) |
N247I |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,340,589 (GRCm39) |
E668D |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,061,117 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,341,994 (GRCm39) |
L1412I |
possibly damaging |
Het |
| Xrcc5 |
T |
A |
1: 72,349,617 (GRCm39) |
D15E |
probably damaging |
Het |
| Zfp661 |
T |
C |
2: 127,418,968 (GRCm39) |
K391E |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,977 (GRCm39) |
I106T |
probably benign |
Het |
| Zfyve9 |
A |
C |
4: 108,576,557 (GRCm39) |
S175A |
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 |
|
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'- ACCAGGACACAGCATTTAAGG -3'
(R):5'- CCCTGAACTCAAGACTGCTC -3'
Sequencing Primer
(F):5'- GACACAGCATTTAAGGTGGATTAAAC -3'
(R):5'- GCTCATTTCTGACCAGCAAGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation