Incidental Mutation 'R7530:Ccdc73'
| ID |
583247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| MMRRC Submission |
045602-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7530 (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 104824915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 155
(T155A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111114]
[ENSMUST00000151764]
|
| AlphaFold |
Q8CDM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111114
AA Change: T983A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: T983A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
Pfam:CCDC73
|
27 |
1061 |
N/A |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106
AA Change: T155A
| 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: 99.2%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,423,724 (GRCm39) |
T230A |
probably benign |
Het |
| Atp5mc2 |
A |
T |
15: 102,576,183 (GRCm39) |
M1K |
probably null |
Het |
| Atp8a1 |
A |
C |
5: 67,902,971 (GRCm39) |
L535R |
|
Het |
| Bsn |
A |
G |
9: 107,989,155 (GRCm39) |
I2199T |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,372,305 (GRCm39) |
F1430L |
probably benign |
Het |
| Cdc42bpg |
G |
T |
19: 6,372,306 (GRCm39) |
V1431L |
probably benign |
Het |
| Chat |
A |
T |
14: 32,130,915 (GRCm39) |
Y575* |
probably null |
Het |
| Cimip4 |
T |
C |
15: 78,270,516 (GRCm39) |
D84G |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,589 (GRCm39) |
C842S |
probably damaging |
Het |
| Coq2 |
T |
C |
5: 100,822,008 (GRCm39) |
S34G |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,875,069 (GRCm39) |
A680T |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,931 (GRCm39) |
K38N |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,313 (GRCm39) |
F33S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,815,317 (GRCm39) |
M1322T |
probably damaging |
Het |
| Ext2 |
T |
A |
2: 93,491,998 (GRCm39) |
H564L |
probably benign |
Het |
| Fbxl2 |
G |
T |
9: 113,818,241 (GRCm39) |
H202N |
probably benign |
Het |
| Fra10ac1 |
A |
T |
19: 38,204,353 (GRCm39) |
Y74* |
probably null |
Het |
| Greb1 |
T |
A |
12: 16,767,207 (GRCm39) |
I332F |
probably benign |
Het |
| Ifnar2 |
A |
G |
16: 91,201,201 (GRCm39) |
S481G |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,381 (GRCm39) |
P62S |
possibly damaging |
Het |
| Iqub |
T |
C |
6: 24,450,622 (GRCm39) |
Q659R |
probably benign |
Het |
| Kansl2 |
T |
C |
15: 98,426,896 (GRCm39) |
T242A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,536,045 (GRCm39) |
G543D |
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,401,419 (GRCm39) |
S93P |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,781,851 (GRCm39) |
C1052S |
probably benign |
Het |
| Mgam |
G |
T |
6: 40,686,152 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
C |
T |
11: 87,502,702 (GRCm39) |
R919W |
probably damaging |
Het |
| Muc5ac |
G |
T |
7: 141,367,536 (GRCm39) |
V2986L |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,864,802 (GRCm39) |
E1340G |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,995,078 (GRCm39) |
D40G |
possibly damaging |
Het |
| Nudt5 |
T |
C |
2: 5,869,179 (GRCm39) |
L135S |
probably damaging |
Het |
| Oca2 |
A |
C |
7: 55,981,720 (GRCm39) |
D614A |
probably damaging |
Het |
| Or1e16 |
A |
G |
11: 73,279,189 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or6c201 |
A |
C |
10: 128,969,849 (GRCm39) |
|
probably null |
Het |
| Or8k24 |
T |
A |
2: 86,216,515 (GRCm39) |
L82F |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,069,844 (GRCm39) |
A991S |
unknown |
Het |
| Plekhg2 |
G |
A |
7: 28,061,353 (GRCm39) |
R817C |
probably damaging |
Het |
| Plrg1 |
T |
A |
3: 82,965,989 (GRCm39) |
L48H |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,207,397 (GRCm39) |
E18G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,069,945 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,653,357 (GRCm39) |
Y159* |
probably null |
Het |
| Rbck1 |
T |
C |
2: 152,166,212 (GRCm39) |
E242G |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,768 (GRCm39) |
D570G |
probably benign |
Het |
| Slc35f5 |
G |
T |
1: 125,512,275 (GRCm39) |
L358F |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,156,587 (GRCm39) |
W274R |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,926,121 (GRCm39) |
Y43* |
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,786 (GRCm39) |
T77A |
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,436,829 (GRCm39) |
T297I |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,558,522 (GRCm39) |
I1743N |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGGGTAATGTGGTAACCAG -3'
(R):5'- AAATGGTGCCATGTTGCCC -3'
Sequencing Primer
(F):5'- GGAAAGTCTATGAAACAGTAATCTCC -3'
(R):5'- GCCCTCTTGATATTATTCTGGAGATC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation