Incidental Mutation 'R0835:Acan'
ID |
77824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acan
|
Ensembl Gene |
ENSMUSG00000030607 |
Gene Name |
aggrecan |
Synonyms |
Agc1, Cspg1, b2b183Clo |
MMRRC Submission |
039014-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0835 (G1)
|
Quality Score |
86 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78763980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 2119
(S2119C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032827]
[ENSMUST00000032835]
[ENSMUST00000205782]
[ENSMUST00000206092]
|
AlphaFold |
Q61282 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032827
|
SMART Domains |
Protein: ENSMUSP00000032827 Gene: ENSMUSG00000030606
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IGv
|
65 |
148 |
3.28e-8 |
SMART |
LINK
|
164 |
261 |
1.78e-46 |
SMART |
LINK
|
265 |
357 |
3.14e-47 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032835
AA Change: S2119C
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032835 Gene: ENSMUSG00000030607 AA Change: S2119C
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: S734C
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 90.7%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
G |
T |
6: 146,855,036 (GRCm39) |
|
probably benign |
Het |
Abca16 |
A |
G |
7: 120,065,007 (GRCm39) |
T555A |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,919,862 (GRCm39) |
D1048V |
probably damaging |
Het |
Abcf2 |
G |
T |
5: 24,779,251 (GRCm39) |
T99N |
probably damaging |
Het |
Adgre4 |
G |
A |
17: 56,106,637 (GRCm39) |
C292Y |
probably damaging |
Het |
Alk |
A |
G |
17: 72,176,837 (GRCm39) |
F1489S |
probably damaging |
Het |
Ampd2 |
A |
G |
3: 107,983,818 (GRCm39) |
V573A |
possibly damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,448 (GRCm39) |
F130S |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,801,887 (GRCm39) |
I554N |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,374,517 (GRCm39) |
H76R |
probably benign |
Het |
Cdc14a |
G |
T |
3: 116,122,171 (GRCm39) |
N216K |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,130,224 (GRCm39) |
Y69C |
probably damaging |
Het |
Cep135 |
A |
T |
5: 76,763,553 (GRCm39) |
R514S |
probably benign |
Het |
Cfi |
A |
T |
3: 129,662,191 (GRCm39) |
Y390F |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
Clptm1 |
A |
G |
7: 19,369,599 (GRCm39) |
V437A |
possibly damaging |
Het |
Coro2b |
T |
C |
9: 62,333,119 (GRCm39) |
N422S |
possibly damaging |
Het |
Coro7 |
T |
C |
16: 4,450,118 (GRCm39) |
E577G |
probably benign |
Het |
Crh |
G |
A |
3: 19,748,528 (GRCm39) |
P38L |
probably benign |
Het |
Ctif |
T |
A |
18: 75,568,407 (GRCm39) |
D577V |
probably damaging |
Het |
Deup1 |
T |
A |
9: 15,511,047 (GRCm39) |
Q244L |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,192,581 (GRCm39) |
E171G |
probably damaging |
Het |
Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,081,316 (GRCm39) |
L508F |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,116,642 (GRCm39) |
|
probably null |
Het |
E2f4 |
C |
T |
8: 106,027,140 (GRCm39) |
Q235* |
probably null |
Het |
Eif2b3 |
A |
G |
4: 116,916,002 (GRCm39) |
H203R |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,534,101 (GRCm39) |
W77R |
probably damaging |
Het |
Gpx6 |
C |
T |
13: 21,501,238 (GRCm39) |
P109S |
probably damaging |
Het |
Gsdmc4 |
A |
T |
15: 63,765,649 (GRCm39) |
V300E |
probably damaging |
Het |
Gspt1 |
A |
C |
16: 11,056,802 (GRCm39) |
S198A |
probably benign |
Het |
Ift70a2 |
T |
C |
2: 75,808,494 (GRCm39) |
N6S |
probably benign |
Het |
Itpk1 |
C |
T |
12: 102,641,707 (GRCm39) |
V39M |
probably damaging |
Het |
Kremen2 |
G |
T |
17: 23,961,811 (GRCm39) |
P232Q |
probably damaging |
Het |
Lamtor4 |
C |
A |
5: 138,257,320 (GRCm39) |
T74K |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,822,665 (GRCm39) |
F492I |
probably benign |
Het |
Mroh1 |
G |
T |
15: 76,336,083 (GRCm39) |
V1486F |
probably damaging |
Het |
Myg1 |
G |
A |
15: 102,240,537 (GRCm39) |
V76M |
probably damaging |
Het |
Myo16 |
G |
T |
8: 10,322,766 (GRCm39) |
Q65H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,838,790 (GRCm39) |
E487G |
probably damaging |
Het |
Ncoa5 |
T |
C |
2: 164,844,714 (GRCm39) |
E332G |
probably damaging |
Het |
Nek6 |
T |
A |
2: 38,459,643 (GRCm39) |
I162N |
possibly damaging |
Het |
Nwd2 |
C |
A |
5: 63,957,473 (GRCm39) |
R268S |
probably damaging |
Het |
Or4c11 |
T |
C |
2: 88,695,345 (GRCm39) |
V132A |
probably benign |
Het |
Or9a7 |
T |
C |
6: 40,521,272 (GRCm39) |
I214V |
probably benign |
Het |
Palm3 |
T |
G |
8: 84,754,776 (GRCm39) |
S141A |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,789,536 (GRCm39) |
F728L |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,869,632 (GRCm39) |
V472A |
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,514,576 (GRCm39) |
L35* |
probably null |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Ppp6r2 |
G |
A |
15: 89,152,785 (GRCm39) |
E309K |
possibly damaging |
Het |
Ptpn6 |
T |
A |
6: 124,704,499 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
T |
C |
9: 89,882,824 (GRCm39) |
V882A |
probably benign |
Het |
Ryr3 |
T |
G |
2: 112,480,483 (GRCm39) |
E4335D |
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,835,958 (GRCm39) |
I892N |
probably damaging |
Het |
Slc22a2 |
G |
A |
17: 12,831,318 (GRCm39) |
M369I |
probably benign |
Het |
Sox10 |
A |
T |
15: 79,040,641 (GRCm39) |
Y300N |
probably damaging |
Het |
Speg |
T |
C |
1: 75,352,318 (GRCm39) |
F79L |
probably benign |
Het |
Sult1b1 |
T |
A |
5: 87,665,311 (GRCm39) |
I208L |
probably benign |
Het |
Syt9 |
A |
G |
7: 107,105,737 (GRCm39) |
N460S |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,149,410 (GRCm39) |
N339I |
possibly damaging |
Het |
Tmem63b |
C |
A |
17: 45,971,870 (GRCm39) |
D782Y |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,725,105 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
G |
T |
5: 136,086,185 (GRCm39) |
R40S |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,912,824 (GRCm39) |
I25T |
probably damaging |
Het |
Vmn2r27 |
A |
G |
6: 124,177,583 (GRCm39) |
Y474H |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,712,246 (GRCm39) |
|
probably null |
Het |
Wdr36 |
A |
T |
18: 32,982,135 (GRCm39) |
N371I |
possibly damaging |
Het |
Wnt7b |
A |
G |
15: 85,421,978 (GRCm39) |
F228S |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
Zan |
T |
G |
5: 137,406,659 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
A |
G |
17: 21,942,559 (GRCm39) |
D578G |
possibly damaging |
Het |
Zfyve19 |
T |
A |
2: 119,041,266 (GRCm39) |
S61T |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,575,866 (GRCm39) |
D405G |
probably 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 |
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 |
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'- AAACCATGCTAGGGGCTAAGCCAC -3'
(R):5'- CCACGGGTTACAGTGAATTGCTTTG -3'
Sequencing Primer
(F):5'- TACTGAGGGTCTGTCCATCAAAAG -3'
(R):5'- CACACACAATGTGGGTTTTTTTTC -3'
|
Posted On |
2013-10-16 |