Incidental Mutation 'R6738:Ccdc73'
| ID |
530294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| MMRRC Submission |
044856-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104716669-104830082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104822433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 794
(S794L)
|
| 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: S794L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: S794L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,684,586 (GRCm39) |
Y454H |
probably damaging |
Het |
| Ambp |
A |
T |
4: 63,067,711 (GRCm39) |
D166E |
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,345 (GRCm39) |
V359A |
possibly damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,618,660 (GRCm39) |
S1710T |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,040,635 (GRCm39) |
S1713P |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,863,431 (GRCm39) |
K758M |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,199,515 (GRCm39) |
I304T |
possibly damaging |
Het |
| C1ra |
A |
G |
6: 124,494,718 (GRCm39) |
Y327C |
probably damaging |
Het |
| Cd24a |
A |
G |
10: 43,458,672 (GRCm39) |
N48D |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,906,116 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,725,363 (GRCm39) |
T252I |
possibly damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,406 (GRCm39) |
Y111H |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,186 (GRCm39) |
S1324P |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,202,346 (GRCm39) |
F522I |
probably damaging |
Het |
| Fam193b |
C |
T |
13: 55,698,174 (GRCm39) |
A45T |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,904,536 (GRCm38) |
T980A |
probably benign |
Het |
| Gabrb2 |
G |
T |
11: 42,484,758 (GRCm39) |
A272S |
possibly damaging |
Het |
| H2al2a |
G |
T |
2: 18,001,429 (GRCm39) |
Q86K |
possibly damaging |
Het |
| Ikbkb |
T |
G |
8: 23,165,052 (GRCm39) |
I243L |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,816 (GRCm39) |
E527G |
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,984,535 (GRCm39) |
V320D |
probably damaging |
Het |
| Krt76 |
C |
T |
15: 101,795,913 (GRCm39) |
R419H |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,288,832 (GRCm39) |
Y3678F |
probably damaging |
Het |
| Mab21l4 |
G |
A |
1: 93,087,707 (GRCm39) |
L49F |
probably benign |
Het |
| Mnat1 |
T |
G |
12: 73,319,246 (GRCm39) |
S290A |
probably benign |
Het |
| Mptx2 |
T |
C |
1: 173,102,422 (GRCm39) |
E89G |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,407,393 (GRCm39) |
|
probably null |
Het |
| Naaladl2 |
A |
G |
3: 24,225,806 (GRCm39) |
V541A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,465,973 (GRCm39) |
T851A |
possibly damaging |
Het |
| Ncoa4 |
A |
G |
14: 31,892,750 (GRCm39) |
Y11C |
probably benign |
Het |
| Ntn5 |
T |
A |
7: 45,343,780 (GRCm39) |
|
probably null |
Het |
| Or10d4c |
A |
G |
9: 39,557,957 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
C |
T |
2: 36,624,444 (GRCm39) |
T37I |
probably benign |
Het |
| Otop2 |
A |
G |
11: 115,220,318 (GRCm39) |
Y386C |
probably damaging |
Het |
| Ppp2r1a |
T |
A |
17: 21,174,979 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
C |
A |
7: 16,599,830 (GRCm39) |
N764K |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,809,512 (GRCm39) |
L421S |
probably damaging |
Het |
| Ric3 |
G |
A |
7: 108,647,269 (GRCm39) |
R184* |
probably null |
Het |
| Sfswap |
A |
G |
5: 129,618,505 (GRCm39) |
K480E |
probably damaging |
Het |
| Siah2 |
A |
G |
3: 58,598,974 (GRCm39) |
V88A |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,298 (GRCm39) |
F367L |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,920,356 (GRCm39) |
D183G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,180 (GRCm39) |
N712S |
possibly damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,283 (GRCm39) |
V72A |
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,367,311 (GRCm39) |
Y184H |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,076,504 (GRCm39) |
Y138H |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,293,946 (GRCm39) |
N227K |
possibly damaging |
Het |
| Trip10 |
C |
T |
17: 57,563,899 (GRCm39) |
P342S |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,735,426 (GRCm39) |
E1156V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,472 (GRCm39) |
|
probably benign |
Het |
| Vmn2r109 |
G |
A |
17: 20,774,785 (GRCm39) |
S190L |
possibly damaging |
Het |
| Wdr54 |
A |
G |
6: 83,132,109 (GRCm39) |
S99P |
probably damaging |
Het |
| Ythdf2 |
A |
C |
4: 131,932,272 (GRCm39) |
I296R |
probably benign |
Het |
| Zfp445 |
A |
G |
9: 122,691,123 (GRCm39) |
V24A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATTAATACTCTGCCAACAGCG -3'
(R):5'- AGACAAATGTGCTTCTTCCAGC -3'
Sequencing Primer
(F):5'- ACAGCGGCGAAACCTGC -3'
(R):5'- AGCTGACCTTCGTGGCATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation