Incidental Mutation 'R5655:Acan'
| ID |
442253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acan
|
| Ensembl Gene |
ENSMUSG00000030607 |
| Gene Name |
aggrecan |
| Synonyms |
Agc1, Cspg1, b2b183Clo |
| MMRRC Submission |
043301-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78749791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1521
(D1521N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
| AlphaFold |
Q61282 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032835
AA Change: D1521N
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: D1521N
| 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 |
unknown
Transcript: ENSMUST00000206779
AA Change: D98N
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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 |
|---|
| 1700016H13Rik |
T |
A |
5: 103,796,746 (GRCm39) |
I99F |
probably benign |
Het |
| Acap3 |
C |
T |
4: 155,981,076 (GRCm39) |
T53I |
probably benign |
Het |
| Actr3b |
G |
T |
5: 26,053,366 (GRCm39) |
V232F |
probably damaging |
Het |
| Adgrl1 |
G |
A |
8: 84,665,230 (GRCm39) |
V1311M |
possibly damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,343,372 (GRCm39) |
|
probably null |
Het |
| Asns |
A |
C |
6: 7,685,309 (GRCm39) |
M116R |
probably benign |
Het |
| Asprv1 |
A |
T |
6: 86,605,464 (GRCm39) |
E103D |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,885,489 (GRCm39) |
I232T |
probably damaging |
Het |
| B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
| Bckdha |
A |
G |
7: 25,329,789 (GRCm39) |
Y414H |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,387 (GRCm39) |
T2309M |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,507,333 (GRCm39) |
F361I |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,626,029 (GRCm39) |
|
probably null |
Het |
| Cog4 |
A |
G |
8: 111,589,939 (GRCm39) |
Y368C |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,523,258 (GRCm39) |
V100M |
probably damaging |
Het |
| Cyp4a12b |
C |
G |
4: 115,290,994 (GRCm39) |
H341D |
probably damaging |
Het |
| Ddx10 |
A |
T |
9: 53,120,987 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,431,424 (GRCm39) |
Y414F |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,595,496 (GRCm39) |
K1445R |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,148,659 (GRCm39) |
D928E |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,644 (GRCm39) |
|
probably null |
Het |
| Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,429,828 (GRCm39) |
N36D |
probably benign |
Het |
| Fmnl3 |
A |
T |
15: 99,219,743 (GRCm39) |
F668L |
probably damaging |
Het |
| Foxl2 |
C |
T |
9: 98,838,048 (GRCm39) |
P112L |
probably damaging |
Het |
| Foxp2 |
T |
G |
6: 15,197,112 (GRCm39) |
H51Q |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,323 (GRCm39) |
T539S |
probably benign |
Het |
| Ftcd |
G |
T |
10: 76,423,937 (GRCm39) |
G493C |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,099 (GRCm39) |
S230G |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,073,750 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,637,975 (GRCm39) |
I350L |
probably benign |
Het |
| Idh2 |
A |
C |
7: 79,747,996 (GRCm39) |
C235G |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,264,038 (GRCm39) |
L514F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lamc3 |
C |
A |
2: 31,815,729 (GRCm39) |
R1142S |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,603,853 (GRCm39) |
H276L |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,389,381 (GRCm39) |
I2015L |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,060,444 (GRCm39) |
E764G |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,838,326 (GRCm39) |
M749I |
probably benign |
Het |
| Msh2 |
C |
T |
17: 88,026,871 (GRCm39) |
A789V |
possibly damaging |
Het |
| Ndufa2 |
T |
C |
18: 36,877,519 (GRCm39) |
I19V |
probably benign |
Het |
| Neurod4 |
T |
A |
10: 130,107,002 (GRCm39) |
K91* |
probably null |
Het |
| Nos1 |
G |
T |
5: 118,061,322 (GRCm39) |
G883C |
probably damaging |
Het |
| Npdc1 |
A |
T |
2: 25,297,692 (GRCm39) |
H121L |
possibly damaging |
Het |
| Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or3a10 |
A |
C |
11: 73,935,160 (GRCm39) |
Y313* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,450,636 (GRCm39) |
I123V |
probably benign |
Het |
| P2ry13 |
C |
T |
3: 59,117,260 (GRCm39) |
V173M |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,445,858 (GRCm39) |
N156K |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,286,680 (GRCm39) |
F569Y |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,063,889 (GRCm39) |
|
probably null |
Het |
| Plk3 |
A |
G |
4: 116,988,677 (GRCm39) |
L324P |
probably damaging |
Het |
| Pom121 |
A |
G |
5: 135,421,171 (GRCm39) |
S260P |
unknown |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Prrt2 |
G |
A |
7: 126,618,574 (GRCm39) |
A297V |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,857 (GRCm39) |
V308E |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,517,806 (GRCm39) |
I139V |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,999,772 (GRCm39) |
M621L |
probably benign |
Het |
| Rab6a |
G |
A |
7: 100,257,501 (GRCm39) |
|
probably null |
Het |
| Ranbp1 |
C |
T |
16: 18,059,669 (GRCm39) |
D127N |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,032 (GRCm39) |
R272L |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,859 (GRCm39) |
L314P |
probably damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,606,218 (GRCm39) |
M709L |
probably benign |
Het |
| Smarcc1 |
A |
T |
9: 109,986,412 (GRCm39) |
S238C |
probably null |
Het |
| Snx29 |
C |
T |
16: 11,573,185 (GRCm39) |
L476F |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,194,618 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
T |
C |
11: 116,575,972 (GRCm39) |
N160D |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,671 (GRCm39) |
|
probably null |
Het |
| Trpc4ap |
G |
A |
2: 155,495,547 (GRCm39) |
T306I |
possibly damaging |
Het |
| Ubr5 |
T |
G |
15: 38,015,337 (GRCm39) |
Y891S |
probably damaging |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,298 (GRCm39) |
F133L |
probably benign |
Het |
| Vmn1r56 |
T |
A |
7: 5,198,700 (GRCm39) |
I306F |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,315 (GRCm39) |
V193A |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,354 (GRCm39) |
V239E |
probably damaging |
Het |
| Zfp7 |
G |
T |
15: 76,775,629 (GRCm39) |
C557F |
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 |
|
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 |
|
|
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'- AAGTGGCAGTGGAGAGTCTTC -3'
(R):5'- TTCTTGAGCAGTAGGAGCCTGAG -3'
Sequencing Primer
(F):5'- CTGGCATTACATTTGTGGACACCAG -3'
(R):5'- GGAGCCTGAGTTATAGATTCCACC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation