Incidental Mutation 'IGL02179:Ccdc73'
| ID |
283248 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02179
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
104716669-104830082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104737913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 3
(D3G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111114]
[ENSMUST00000127840]
[ENSMUST00000151764]
|
| AlphaFold |
Q8CDM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111114
AA Change: D3G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: D3G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
Pfam:CCDC73
|
27 |
1061 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127840
AA Change: D3G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: D3G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
48 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151764
AA Change: D3G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: D3G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
48 |
134 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
381 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
C |
A |
2: 31,682,261 (GRCm39) |
A385D |
probably damaging |
Het |
| Ace |
A |
G |
11: 105,860,615 (GRCm39) |
D174G |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,358,701 (GRCm39) |
V98A |
probably benign |
Het |
| AU040320 |
T |
A |
4: 126,729,405 (GRCm39) |
F522L |
probably benign |
Het |
| Cdk14 |
A |
C |
5: 5,153,845 (GRCm39) |
L199V |
probably damaging |
Het |
| Cdk15 |
G |
T |
1: 59,370,100 (GRCm39) |
A381S |
possibly damaging |
Het |
| Cyb5a |
A |
G |
18: 84,891,280 (GRCm39) |
I68V |
probably benign |
Het |
| Dock5 |
G |
A |
14: 68,043,945 (GRCm39) |
|
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,438,973 (GRCm39) |
K201* |
probably null |
Het |
| Gm5852 |
C |
T |
3: 93,635,023 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma3 |
A |
G |
11: 98,526,097 (GRCm39) |
K274E |
possibly damaging |
Het |
| Hoxa7 |
T |
A |
6: 52,192,854 (GRCm39) |
Q178L |
probably damaging |
Het |
| Itgae |
G |
T |
11: 73,024,844 (GRCm39) |
V992L |
probably benign |
Het |
| Klk1b26 |
A |
G |
7: 43,665,736 (GRCm39) |
N183D |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,667 (GRCm39) |
S140T |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,946,360 (GRCm39) |
T1953I |
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,464,273 (GRCm39) |
R26Q |
probably benign |
Het |
| Myh7b |
A |
C |
2: 155,456,411 (GRCm39) |
I175L |
probably benign |
Het |
| Nol11 |
A |
G |
11: 107,080,082 (GRCm39) |
M1T |
probably null |
Het |
| Nrxn1 |
T |
A |
17: 90,937,511 (GRCm39) |
I641F |
probably damaging |
Het |
| Or51ag1 |
A |
C |
7: 103,155,934 (GRCm39) |
L73R |
probably damaging |
Het |
| Or8k3 |
A |
T |
2: 86,058,591 (GRCm39) |
C241* |
probably null |
Het |
| Or9i2 |
T |
C |
19: 13,815,851 (GRCm39) |
T229A |
probably benign |
Het |
| Parn |
G |
T |
16: 13,485,456 (GRCm39) |
H13Q |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 81,980,493 (GRCm39) |
|
probably benign |
Het |
| Pdcd10 |
T |
C |
3: 75,434,922 (GRCm39) |
D60G |
probably damaging |
Het |
| Phka2 |
G |
A |
X: 159,337,376 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
A |
T |
5: 51,631,053 (GRCm39) |
D525E |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,597,589 (GRCm39) |
R139L |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,638,712 (GRCm39) |
V178A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sdccag8 |
C |
T |
1: 176,705,622 (GRCm39) |
H479Y |
probably benign |
Het |
| Taf8 |
T |
C |
17: 47,813,158 (GRCm39) |
T13A |
probably benign |
Het |
| Ttc8 |
T |
C |
12: 98,930,796 (GRCm39) |
L270P |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,717,712 (GRCm39) |
Q365* |
probably null |
Het |
| Uchl1 |
A |
G |
5: 66,833,637 (GRCm39) |
Q2R |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,254,896 (GRCm39) |
V440A |
probably damaging |
Het |
|
| Other mutations in Ccdc73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Ccdc73
|
APN |
2 |
104,824,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01313:Ccdc73
|
APN |
2 |
104,737,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02016:Ccdc73
|
APN |
2 |
104,805,961 (GRCm39) |
missense |
probably benign |
0.05 |
|
FR4304:Ccdc73
|
UTSW |
2 |
104,822,185 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Ccdc73
|
UTSW |
2 |
104,822,185 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03052:Ccdc73
|
UTSW |
2 |
104,782,281 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0010:Ccdc73
|
UTSW |
2 |
104,811,332 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Ccdc73
|
UTSW |
2 |
104,822,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Ccdc73
|
UTSW |
2 |
104,759,915 (GRCm39) |
splice site |
probably benign |
|
|
R0360:Ccdc73
|
UTSW |
2 |
104,811,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Ccdc73
|
UTSW |
2 |
104,821,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0715:Ccdc73
|
UTSW |
2 |
104,803,499 (GRCm39) |
splice site |
probably benign |
|
|
R0839:Ccdc73
|
UTSW |
2 |
104,821,442 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1129:Ccdc73
|
UTSW |
2 |
104,822,535 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1240:Ccdc73
|
UTSW |
2 |
104,821,906 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1478:Ccdc73
|
UTSW |
2 |
104,745,012 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1478:Ccdc73
|
UTSW |
2 |
104,737,955 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1695:Ccdc73
|
UTSW |
2 |
104,822,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Ccdc73
|
UTSW |
2 |
104,822,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Ccdc73
|
UTSW |
2 |
104,757,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1987:Ccdc73
|
UTSW |
2 |
104,829,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Ccdc73
|
UTSW |
2 |
104,761,390 (GRCm39) |
nonsense |
probably null |
|
|
R2938:Ccdc73
|
UTSW |
2 |
104,805,980 (GRCm39) |
nonsense |
probably null |
|
|
R3420:Ccdc73
|
UTSW |
2 |
104,782,293 (GRCm39) |
splice site |
probably null |
|
|
R3420:Ccdc73
|
UTSW |
2 |
104,782,292 (GRCm39) |
missense |
probably null |
1.00 |
|
R3422:Ccdc73
|
UTSW |
2 |
104,782,293 (GRCm39) |
splice site |
probably null |
|
|
R3422:Ccdc73
|
UTSW |
2 |
104,782,292 (GRCm39) |
missense |
probably null |
1.00 |
|
R3522:Ccdc73
|
UTSW |
2 |
104,821,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Ccdc73
|
UTSW |
2 |
104,821,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4279:Ccdc73
|
UTSW |
2 |
104,815,355 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4791:Ccdc73
|
UTSW |
2 |
104,811,450 (GRCm39) |
splice site |
probably null |
|
|
R4793:Ccdc73
|
UTSW |
2 |
104,848,127 (GRCm39) |
splice site |
probably null |
|
|
R4939:Ccdc73
|
UTSW |
2 |
104,822,502 (GRCm39) |
splice site |
probably null |
|
|
R4950:Ccdc73
|
UTSW |
2 |
104,822,711 (GRCm39) |
missense |
probably benign |
|
|
R5093:Ccdc73
|
UTSW |
2 |
104,848,111 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5150:Ccdc73
|
UTSW |
2 |
104,822,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5381:Ccdc73
|
UTSW |
2 |
104,820,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Ccdc73
|
UTSW |
2 |
104,761,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6148:Ccdc73
|
UTSW |
2 |
104,822,482 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6269:Ccdc73
|
UTSW |
2 |
104,737,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Ccdc73
|
UTSW |
2 |
104,822,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6753:Ccdc73
|
UTSW |
2 |
104,821,869 (GRCm39) |
nonsense |
probably null |
|
|
R7062:Ccdc73
|
UTSW |
2 |
104,782,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Ccdc73
|
UTSW |
2 |
104,803,569 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7320:Ccdc73
|
UTSW |
2 |
104,829,521 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7436:Ccdc73
|
UTSW |
2 |
104,782,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Ccdc73
|
UTSW |
2 |
104,824,915 (GRCm39) |
missense |
|
|
|
R7747:Ccdc73
|
UTSW |
2 |
104,759,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Ccdc73
|
UTSW |
2 |
104,775,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8178:Ccdc73
|
UTSW |
2 |
104,821,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Ccdc73
|
UTSW |
2 |
104,822,222 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8927:Ccdc73
|
UTSW |
2 |
104,822,542 (GRCm39) |
missense |
|
|
|
R8928:Ccdc73
|
UTSW |
2 |
104,822,542 (GRCm39) |
missense |
|
|
|
R8945:Ccdc73
|
UTSW |
2 |
104,821,712 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9365:Ccdc73
|
UTSW |
2 |
104,738,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ccdc73
|
UTSW |
2 |
104,822,584 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation