Incidental Mutation 'R9365:Ccdc73'
| ID |
708882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R9365 (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 104738011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 36
(L36F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111114]
[ENSMUST00000127840]
[ENSMUST00000151764]
|
| AlphaFold |
Q8CDM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111114
AA Change: L36F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: L36F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
Pfam:CCDC73
|
27 |
1061 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127840
AA Change: L36F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: L36F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
48 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151764
AA Change: L36F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: L36F
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,848,035 (GRCm39) |
R481Q |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,101,555 (GRCm39) |
I77T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,889,207 (GRCm39) |
V362E |
possibly damaging |
Het |
| Bcat2 |
T |
A |
7: 45,225,294 (GRCm39) |
F57L |
probably damaging |
Het |
| Ccl19 |
C |
T |
4: 42,756,288 (GRCm39) |
V15I |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,954,207 (GRCm39) |
V1688E |
possibly damaging |
Het |
| Ces1a |
A |
T |
8: 93,774,727 (GRCm39) |
F4I |
probably benign |
Het |
| Chchd6 |
G |
A |
6: 89,551,413 (GRCm39) |
P83S |
probably benign |
Het |
| Cnr1 |
T |
C |
4: 33,943,798 (GRCm39) |
M62T |
probably benign |
Het |
| Colec12 |
T |
C |
18: 9,848,146 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,894,979 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
C |
T |
14: 55,724,776 (GRCm39) |
T181I |
probably benign |
Het |
| Disc1 |
T |
C |
8: 125,851,285 (GRCm39) |
S392P |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,566,859 (GRCm39) |
F69L |
|
Het |
| Ehmt1 |
T |
C |
2: 24,728,722 (GRCm39) |
D726G |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,997,957 (GRCm39) |
L462I |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,040,697 (GRCm39) |
S774T |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,813 (GRCm39) |
S794P |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,606,973 (GRCm39) |
V646A |
probably benign |
Het |
| Gm3543 |
G |
T |
14: 41,804,093 (GRCm39) |
D57E |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,736,124 (GRCm39) |
D1831E |
probably damaging |
Het |
| Hace1 |
T |
G |
10: 45,586,092 (GRCm39) |
|
probably null |
Het |
| Irgc |
T |
C |
7: 24,131,872 (GRCm39) |
E315G |
possibly damaging |
Het |
| Ism1 |
A |
G |
2: 139,582,321 (GRCm39) |
Y211C |
probably damaging |
Het |
| Kpna1 |
T |
G |
16: 35,833,287 (GRCm39) |
V121G |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,198,521 (GRCm39) |
F250L |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,407 (GRCm39) |
T368A |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,925,169 (GRCm39) |
C467* |
probably null |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,943 (GRCm39) |
E408G |
probably benign |
Het |
| Melk |
C |
T |
4: 44,340,693 (GRCm39) |
A330V |
probably null |
Het |
| Mmp13 |
T |
G |
9: 7,277,921 (GRCm39) |
D271E |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,052,297 (GRCm39) |
T390A |
|
Het |
| Myh8 |
A |
G |
11: 67,174,632 (GRCm39) |
K249R |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,319,315 (GRCm39) |
M184L |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,885,337 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
G |
7: 45,920,688 (GRCm39) |
C964G |
probably damaging |
Het |
| Oxct2b |
T |
C |
4: 123,010,589 (GRCm39) |
S170P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,112 (GRCm39) |
S432P |
possibly damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,201 (GRCm39) |
R477S |
unknown |
Het |
| Prh1 |
G |
A |
6: 132,549,108 (GRCm39) |
G205D |
unknown |
Het |
| Psg23 |
C |
T |
7: 18,344,393 (GRCm39) |
G354D |
probably damaging |
Het |
| Pura |
T |
G |
18: 36,420,913 (GRCm39) |
D233E |
possibly damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,315,117 (GRCm39) |
L423F |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,026,620 (GRCm39) |
S15P |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,148,465 (GRCm39) |
F7L |
probably benign |
Het |
| Sftpb |
A |
T |
6: 72,284,189 (GRCm39) |
R203* |
probably null |
Het |
| Slc30a9 |
A |
G |
5: 67,507,142 (GRCm39) |
K478R |
probably damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,496,333 (GRCm39) |
M156K |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,612,327 (GRCm39) |
I232V |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,461,534 (GRCm39) |
D1527G |
probably benign |
Het |
| Srfbp1 |
T |
G |
18: 52,623,540 (GRCm39) |
V389G |
possibly damaging |
Het |
| Sun2 |
C |
T |
15: 79,622,720 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
T |
14: 51,064,597 (GRCm39) |
A2386D |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,564 (GRCm39) |
S1331R |
possibly damaging |
Het |
| Tgm1 |
A |
T |
14: 55,942,349 (GRCm39) |
N667K |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,862,191 (GRCm39) |
H150R |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,099,712 (GRCm39) |
N1161S |
possibly damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,064 (GRCm39) |
D312E |
probably damaging |
Het |
| Wdr55 |
T |
G |
18: 36,893,354 (GRCm39) |
C5W |
probably damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,332,540 (GRCm39) |
P405Q |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,079,591 (GRCm39) |
I789F |
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 |
|
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 |
|
Z1177:Ccdc73
|
UTSW |
2 |
104,822,584 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACCATTGCTGCCAAGTG -3'
(R):5'- ATCCCCAGAACCCATGTGAG -3'
Sequencing Primer
(F):5'- GAACCATTGCTGCCAAGTGTTTTTC -3'
(R):5'- TCCCCAGAACCCATGTGAGAAAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation