Incidental Mutation 'R8945:Ccdc73'
ID |
681221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc73
|
Ensembl Gene |
ENSMUSG00000045106 |
Gene Name |
coiled-coil domain containing 73 |
Synonyms |
2210415I11Rik |
MMRRC Submission |
068713-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R8945 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104716669-104830082 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104821712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 554
(T554A)
|
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: T554A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106743 Gene: ENSMUSG00000045106 AA Change: T554A
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: ENSMUST00000144358
|
SMART Domains |
Protein: ENSMUSP00000114374 Gene: ENSMUSG00000045106
Domain | Start | End | E-Value | Type |
Pfam:CCDC73
|
1 |
182 |
3.1e-77 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151764
|
SMART Domains |
Protein: ENSMUSP00000120706 Gene: ENSMUSG00000045106
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aopep |
G |
T |
13: 63,388,145 (GRCm39) |
K709N |
probably null |
Het |
Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
Atp6v0a2 |
G |
T |
5: 124,784,589 (GRCm39) |
A291S |
probably damaging |
Het |
Bcl9l |
G |
T |
9: 44,412,238 (GRCm39) |
V38L |
possibly damaging |
Het |
Bmp1 |
T |
C |
14: 70,727,630 (GRCm39) |
Y651C |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,065,661 (GRCm39) |
E398G |
probably benign |
Het |
C2cd3 |
A |
T |
7: 100,040,286 (GRCm39) |
N285I |
possibly damaging |
Het |
Cavin1 |
T |
C |
11: 100,849,659 (GRCm39) |
T324A |
probably damaging |
Het |
Clcn1 |
A |
T |
6: 42,263,701 (GRCm39) |
M1L |
possibly damaging |
Het |
Clec18a |
A |
T |
8: 111,808,201 (GRCm39) |
S77T |
possibly damaging |
Het |
Dhx32 |
A |
G |
7: 133,323,876 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
Dnah10 |
A |
C |
5: 124,891,006 (GRCm39) |
E3199A |
probably damaging |
Het |
Dnah11 |
G |
T |
12: 117,987,718 (GRCm39) |
L2395I |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,007,096 (GRCm39) |
Y599F |
probably benign |
Het |
Dusp26 |
G |
A |
8: 31,586,367 (GRCm39) |
R196K |
unknown |
Het |
Dyrk1a |
A |
G |
16: 94,466,866 (GRCm39) |
Y140C |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,766,438 (GRCm39) |
Y588* |
probably null |
Het |
Eml6 |
T |
A |
11: 29,703,110 (GRCm39) |
T1603S |
probably damaging |
Het |
Fam162b |
T |
C |
10: 51,466,469 (GRCm39) |
T17A |
probably benign |
Het |
Fnbp1 |
T |
A |
2: 30,995,346 (GRCm39) |
K29N |
probably damaging |
Het |
Fzd4 |
A |
T |
7: 89,056,792 (GRCm39) |
I280L |
possibly damaging |
Het |
G3bp2 |
G |
A |
5: 92,216,281 (GRCm39) |
T85I |
probably damaging |
Het |
Gm13283 |
C |
T |
4: 88,679,123 (GRCm39) |
A38V |
probably benign |
Het |
Hps3 |
T |
A |
3: 20,068,224 (GRCm39) |
H610L |
probably damaging |
Het |
Ifnlr1 |
T |
G |
4: 135,431,609 (GRCm39) |
L266R |
probably damaging |
Het |
Jak1 |
A |
T |
4: 101,020,109 (GRCm39) |
D683E |
probably benign |
Het |
Lrrc1 |
G |
A |
9: 77,342,373 (GRCm39) |
T412M |
probably damaging |
Het |
Mdga1 |
G |
T |
17: 30,058,959 (GRCm39) |
|
probably benign |
Het |
Med26 |
T |
C |
8: 73,250,934 (GRCm39) |
K55R |
probably benign |
Het |
Mturn |
C |
A |
6: 54,666,017 (GRCm39) |
C63* |
probably null |
Het |
Myo1h |
A |
C |
5: 114,470,784 (GRCm39) |
D381A |
probably damaging |
Het |
Nectin1 |
A |
G |
9: 43,703,237 (GRCm39) |
D165G |
probably benign |
Het |
Nktr |
T |
A |
9: 121,575,558 (GRCm39) |
D330E |
possibly damaging |
Het |
Oprm1 |
A |
T |
10: 6,782,644 (GRCm39) |
|
probably benign |
Het |
Papola |
T |
A |
12: 105,775,946 (GRCm39) |
|
probably benign |
Het |
Pdcl2 |
A |
T |
5: 76,465,675 (GRCm39) |
C134S |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,639,039 (GRCm39) |
Y478C |
probably benign |
Het |
Rev1 |
A |
T |
1: 38,122,824 (GRCm39) |
W465R |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,419,817 (GRCm39) |
I432F |
probably benign |
Het |
Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
Sdk1 |
G |
T |
5: 141,598,935 (GRCm39) |
C200F |
probably benign |
Het |
Spmip2 |
A |
G |
3: 79,252,812 (GRCm39) |
H9R |
probably benign |
Het |
Spsb1 |
T |
C |
4: 149,991,475 (GRCm39) |
Y31C |
possibly damaging |
Het |
Spz1 |
T |
C |
13: 92,711,499 (GRCm39) |
K326E |
possibly damaging |
Het |
Tcaf1 |
C |
T |
6: 42,663,307 (GRCm39) |
S191N |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,064,724 (GRCm39) |
S1385G |
probably benign |
Het |
Tmem38a |
C |
T |
8: 73,338,570 (GRCm39) |
A194V |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,929,945 (GRCm39) |
N137S |
probably benign |
Het |
Tshr |
T |
C |
12: 91,504,997 (GRCm39) |
L645P |
probably damaging |
Het |
Tspyl4 |
T |
A |
10: 34,173,461 (GRCm39) |
|
probably benign |
Het |
Unc13a |
T |
A |
8: 72,100,597 (GRCm39) |
I1064F |
probably damaging |
Het |
Utp20 |
G |
A |
10: 88,628,532 (GRCm39) |
Q921* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,642,114 (GRCm39) |
I2171N |
probably damaging |
Het |
Zfp40 |
A |
G |
17: 23,401,201 (GRCm39) |
V14A |
probably benign |
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 |
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 |
|
|
R9365:Ccdc73
|
UTSW |
2 |
104,738,011 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ccdc73
|
UTSW |
2 |
104,822,584 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATGTCCCCACACAGAGTC -3'
(R):5'- GGTAGCATTTTCCAGATCTGCTG -3'
Sequencing Primer
(F):5'- GAGTCCTTTGCCTAGATAAAGATGC -3'
(R):5'- CAGATCTGCTGGAAGTAATTTGG -3'
|
Posted On |
2021-08-31 |