Incidental Mutation 'IGL02016:Ccdc73'
ID |
183763 |
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: 0.078)
|
Stock # |
IGL02016
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
104716669-104830082 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104805961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 300
(T300A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111114]
[ENSMUST00000151764]
|
AlphaFold |
Q8CDM4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111114
AA Change: T300A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106743 Gene: ENSMUSG00000045106 AA Change: T300A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:CCDC73
|
27 |
1061 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151764
AA Change: T290A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120706 Gene: ENSMUSG00000045106 AA Change: T290A
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
C |
A |
2: 127,028,875 (GRCm39) |
G108V |
probably damaging |
Het |
A2ml1 |
T |
C |
6: 128,535,298 (GRCm39) |
E804G |
probably damaging |
Het |
Abcg4 |
G |
A |
9: 44,198,647 (GRCm39) |
T35M |
probably damaging |
Het |
Acad9 |
A |
T |
3: 36,142,635 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,545,572 (GRCm39) |
D5571G |
probably damaging |
Het |
App |
T |
A |
16: 84,853,409 (GRCm39) |
D223V |
unknown |
Het |
Arhgap30 |
A |
G |
1: 171,235,315 (GRCm39) |
E563G |
probably damaging |
Het |
Atp6v1e2 |
A |
T |
17: 87,251,822 (GRCm39) |
V192D |
probably damaging |
Het |
Atr |
G |
A |
9: 95,809,228 (GRCm39) |
V1969I |
probably benign |
Het |
Bean1 |
T |
C |
8: 104,937,550 (GRCm39) |
L43S |
possibly damaging |
Het |
Cand1 |
A |
G |
10: 119,048,473 (GRCm39) |
V436A |
probably damaging |
Het |
Card6 |
T |
C |
15: 5,137,738 (GRCm39) |
I39V |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,907,466 (GRCm39) |
T962A |
possibly damaging |
Het |
Chd6 |
G |
T |
2: 160,825,598 (GRCm39) |
L1169I |
probably damaging |
Het |
Chrna7 |
A |
T |
7: 62,753,583 (GRCm39) |
V312E |
probably damaging |
Het |
Dna2 |
A |
G |
10: 62,796,191 (GRCm39) |
N540S |
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,149,172 (GRCm39) |
E209G |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,136,932 (GRCm39) |
|
probably null |
Het |
Fto |
A |
T |
8: 92,393,034 (GRCm39) |
R494* |
probably null |
Het |
Garre1 |
A |
G |
7: 33,938,526 (GRCm39) |
M791T |
possibly damaging |
Het |
Gm9966 |
A |
T |
7: 95,608,014 (GRCm39) |
T112S |
unknown |
Het |
Gtf3c1 |
A |
C |
7: 125,267,211 (GRCm39) |
I940S |
probably damaging |
Het |
Hecw2 |
C |
A |
1: 53,870,702 (GRCm39) |
Q1426H |
possibly damaging |
Het |
Iars2 |
A |
C |
1: 185,035,503 (GRCm39) |
L579R |
probably damaging |
Het |
Ifih1 |
A |
C |
2: 62,437,328 (GRCm39) |
M537R |
probably benign |
Het |
Kcnmb4 |
A |
G |
10: 116,282,367 (GRCm39) |
|
probably benign |
Het |
Large2 |
A |
G |
2: 92,199,888 (GRCm39) |
V175A |
possibly damaging |
Het |
Mad2l1bp |
A |
G |
17: 46,464,428 (GRCm39) |
|
probably benign |
Het |
Muc20 |
A |
T |
16: 32,617,722 (GRCm39) |
F14Y |
possibly damaging |
Het |
Myom2 |
A |
G |
8: 15,175,195 (GRCm39) |
E1258G |
probably benign |
Het |
Or8k28 |
A |
T |
2: 86,285,841 (GRCm39) |
M258K |
probably damaging |
Het |
Parp1 |
A |
T |
1: 180,426,516 (GRCm39) |
|
probably null |
Het |
Pramel22 |
T |
A |
4: 143,381,889 (GRCm39) |
E269V |
possibly damaging |
Het |
Prkra |
A |
T |
2: 76,473,653 (GRCm39) |
|
probably null |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scd1 |
C |
T |
19: 44,388,746 (GRCm39) |
G235S |
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,020,184 (GRCm39) |
H654R |
possibly damaging |
Het |
Sesn3 |
A |
G |
9: 14,231,633 (GRCm39) |
Y188C |
probably damaging |
Het |
Slc26a4 |
T |
C |
12: 31,585,666 (GRCm39) |
M461V |
probably damaging |
Het |
Slc28a2 |
A |
G |
2: 122,285,822 (GRCm39) |
I439V |
probably benign |
Het |
Smc5 |
T |
A |
19: 23,251,076 (GRCm39) |
N36I |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,713,504 (GRCm39) |
F745S |
probably damaging |
Het |
Spata22 |
A |
G |
11: 73,226,857 (GRCm39) |
N65S |
possibly damaging |
Het |
Tanc1 |
A |
G |
2: 59,673,934 (GRCm39) |
T1680A |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,891,249 (GRCm39) |
V531M |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,879,433 (GRCm39) |
Y727* |
probably null |
Het |
Tssk1 |
A |
T |
16: 17,712,758 (GRCm39) |
Y181F |
probably damaging |
Het |
Ucp3 |
T |
A |
7: 100,129,766 (GRCm39) |
V136E |
probably damaging |
Het |
Uqcrfs1 |
A |
C |
13: 30,729,097 (GRCm39) |
V45G |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,748,649 (GRCm39) |
I101T |
probably benign |
Het |
Vmn1r206 |
A |
T |
13: 22,804,334 (GRCm39) |
L291Q |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,210,381 (GRCm39) |
I1813F |
probably damaging |
Het |
Zbtb3 |
T |
A |
19: 8,780,579 (GRCm39) |
V64E |
probably damaging |
Het |
Zeb2 |
A |
G |
2: 44,878,886 (GRCm39) |
I1115T |
possibly damaging |
Het |
Zfp280b |
C |
T |
10: 75,874,945 (GRCm39) |
L275F |
possibly 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 |
IGL02179:Ccdc73
|
APN |
2 |
104,737,913 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2014-05-07 |