Incidental Mutation 'R8824:Ccdc73'
| ID |
673310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| MMRRC Submission |
068657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8824 (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 104822222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 724
(N724D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111114]
[ENSMUST00000151764]
|
| AlphaFold |
Q8CDM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111114
AA Change: N724D
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: N724D
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,693,195 (GRCm39) |
V260D |
probably damaging |
Het |
| Adora2a |
G |
A |
10: 75,162,013 (GRCm39) |
A51T |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,314,383 (GRCm39) |
P128S |
possibly damaging |
Het |
| Ago4 |
C |
A |
4: 126,400,977 (GRCm39) |
V623L |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,753,787 (GRCm39) |
N112K |
|
Het |
| C1ra |
A |
T |
6: 124,494,654 (GRCm39) |
I306F |
probably damaging |
Het |
| Cd248 |
A |
G |
19: 5,119,645 (GRCm39) |
I498V |
probably benign |
Het |
| Clrn1 |
A |
T |
3: 58,792,314 (GRCm39) |
S50T |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,796,093 (GRCm39) |
K1553R |
unknown |
Het |
| Cxcr6 |
A |
C |
9: 123,640,006 (GRCm39) |
T343P |
probably benign |
Het |
| Cyp11b2 |
T |
A |
15: 74,727,914 (GRCm39) |
Q56L |
probably damaging |
Het |
| Dip2a |
A |
G |
10: 76,114,320 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
A |
G |
19: 43,838,276 (GRCm39) |
V742A |
probably benign |
Het |
| Dusp16 |
A |
T |
6: 134,716,732 (GRCm39) |
S192T |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,182,053 (GRCm39) |
D87E |
probably damaging |
Het |
| Fgl1 |
A |
G |
8: 41,652,748 (GRCm39) |
V150A |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,271,673 (GRCm39) |
D873G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,427,591 (GRCm39) |
D469G |
possibly damaging |
Het |
| Gm28168 |
T |
G |
1: 117,875,625 (GRCm39) |
S85A |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,051 (GRCm39) |
D1807G |
probably benign |
Het |
| Grm8 |
A |
G |
6: 27,761,351 (GRCm39) |
L291S |
probably damaging |
Het |
| Gucy2d |
C |
T |
7: 98,092,676 (GRCm39) |
P18S |
possibly damaging |
Het |
| Ifna15 |
C |
T |
4: 88,475,998 (GRCm39) |
C162Y |
probably damaging |
Het |
| Iqub |
C |
A |
6: 24,479,307 (GRCm39) |
E412* |
probably null |
Het |
| Krt4 |
T |
A |
15: 101,829,077 (GRCm39) |
D312V |
|
Het |
| Krtap26-1 |
T |
C |
16: 88,444,324 (GRCm39) |
Y99C |
probably damaging |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,303 (GRCm39) |
I106N |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,062,116 (GRCm39) |
I357T |
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,512,068 (GRCm39) |
L4P |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,041 (GRCm39) |
C209S |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,472,301 (GRCm39) |
N1291D |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,074,328 (GRCm39) |
T746A |
probably damaging |
Het |
| Myom2 |
A |
C |
8: 15,164,169 (GRCm39) |
E1021D |
possibly damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,247,409 (GRCm39) |
R338H |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,195,821 (GRCm39) |
F91L |
|
Het |
| Neb |
C |
G |
2: 52,106,923 (GRCm39) |
A4407P |
probably damaging |
Het |
| Or10u4 |
C |
T |
10: 129,801,661 (GRCm39) |
V297M |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,203 (GRCm39) |
Y290F |
probably damaging |
Het |
| Or4b1b |
A |
G |
2: 90,126,356 (GRCm39) |
I283T |
probably damaging |
Het |
| Or5d47 |
A |
G |
2: 87,804,347 (GRCm39) |
F221L |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,350 (GRCm39) |
Y269S |
probably benign |
Het |
| Or5w12 |
T |
C |
2: 87,502,304 (GRCm39) |
M136V |
possibly damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,638,771 (GRCm39) |
K298N |
probably benign |
Het |
| Prkcz |
G |
A |
4: 155,429,285 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
G |
A |
5: 99,090,067 (GRCm39) |
P691L |
possibly damaging |
Het |
| Ptprc |
T |
A |
1: 138,041,446 (GRCm39) |
K89* |
probably null |
Het |
| Rapgef3 |
C |
T |
15: 97,664,789 (GRCm39) |
A25T |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,114,492 (GRCm39) |
T617I |
probably damaging |
Het |
| Rsph1 |
A |
C |
17: 31,492,350 (GRCm39) |
V72G |
possibly damaging |
Het |
| Shc2 |
A |
G |
10: 79,473,536 (GRCm39) |
V50A |
probably benign |
Het |
| Slc38a9 |
G |
A |
13: 112,838,021 (GRCm39) |
R262H |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,055,884 (GRCm39) |
N6Y |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,961 (GRCm39) |
F886L |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,381,074 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,630,680 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,007,113 (GRCm39) |
|
probably benign |
Het |
| Trim55 |
T |
C |
3: 19,727,126 (GRCm39) |
S398P |
probably benign |
Het |
| Ttc39c |
T |
A |
18: 12,820,003 (GRCm39) |
|
probably benign |
Het |
| Ubxn10 |
A |
G |
4: 138,463,178 (GRCm39) |
|
probably null |
Het |
| Usf3 |
A |
G |
16: 44,035,976 (GRCm39) |
N152S |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,533,445 (GRCm39) |
V839E |
probably damaging |
Het |
| Zeb1 |
T |
A |
18: 5,748,680 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,662,893 (GRCm39) |
Y554C |
probably benign |
Het |
| Zhx2 |
C |
T |
15: 57,684,676 (GRCm39) |
T15I |
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 |
|
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 |
|
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'- CATGGTTTACAGGATTCAAGTCATG -3'
(R):5'- TGTGAAGTATGACTGTCCCCTTG -3'
Sequencing Primer
(F):5'- TCATGTTACATTAGATGTTAAGCACC -3'
(R):5'- CCCTTGGTTAACCTGAAAGTCTGAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation