Incidental Mutation 'R5738:Ccdc73'
| ID |
444606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc73
|
| Ensembl Gene |
ENSMUSG00000045106 |
| Gene Name |
coiled-coil domain containing 73 |
| Synonyms |
2210415I11Rik |
| MMRRC Submission |
043350-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104716669-104830082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 104761331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 110
(K110N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111114]
[ENSMUST00000127840]
[ENSMUST00000151764]
|
| AlphaFold |
Q8CDM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111114
AA Change: K110N
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: K110N
| 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: ENSMUST00000127840
AA Change: K110N
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: K110N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
48 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151764
AA Change: K110N
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: K110N
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,571,917 (GRCm39) |
D4826V |
probably damaging |
Het |
| Acoxl |
G |
A |
2: 127,719,686 (GRCm39) |
C149Y |
probably benign |
Het |
| Adamts3 |
G |
T |
5: 89,856,527 (GRCm39) |
H349N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,227,256 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
T |
C |
8: 23,293,877 (GRCm39) |
S58G |
possibly damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,798 (GRCm39) |
W213R |
probably benign |
Het |
| Cacna1h |
T |
G |
17: 25,606,023 (GRCm39) |
D1092A |
probably damaging |
Het |
| Cbfb |
A |
C |
8: 105,929,193 (GRCm39) |
Q170P |
probably damaging |
Het |
| Cep350 |
C |
A |
1: 155,741,824 (GRCm39) |
R2149L |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,272,777 (GRCm39) |
T525A |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,920,170 (GRCm39) |
I251T |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,030 (GRCm39) |
K67E |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,445 (GRCm39) |
N133K |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,242,232 (GRCm39) |
N204S |
probably damaging |
Het |
| Gtf2ird1 |
C |
T |
5: 134,412,672 (GRCm39) |
R613Q |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,294,721 (GRCm39) |
D285G |
possibly damaging |
Het |
| Hipk4 |
G |
A |
7: 27,227,841 (GRCm39) |
V196M |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,754 (GRCm39) |
|
probably null |
Het |
| Igf2r |
A |
T |
17: 12,936,254 (GRCm39) |
D597E |
probably benign |
Het |
| Ighm |
T |
C |
12: 113,385,115 (GRCm39) |
T282A |
unknown |
Het |
| Igsf9b |
T |
C |
9: 27,239,826 (GRCm39) |
C624R |
probably damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,864 (GRCm39) |
V800A |
probably damaging |
Het |
| Lyn |
A |
T |
4: 3,782,987 (GRCm39) |
I386F |
probably damaging |
Het |
| Melk |
A |
G |
4: 44,310,333 (GRCm39) |
D102G |
probably damaging |
Het |
| Mettl1 |
G |
T |
10: 126,877,863 (GRCm39) |
E4* |
probably null |
Het |
| Mybl2 |
C |
T |
2: 162,910,203 (GRCm39) |
Q210* |
probably null |
Het |
| Naga |
C |
T |
15: 82,219,054 (GRCm39) |
W231* |
probably null |
Het |
| Or2y3 |
T |
C |
17: 38,393,347 (GRCm39) |
Y174C |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,424,105 (GRCm39) |
V190I |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,125 (GRCm39) |
N155S |
possibly damaging |
Het |
| Otud4 |
T |
C |
8: 80,400,090 (GRCm39) |
S935P |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,790,852 (GRCm39) |
T63I |
probably damaging |
Het |
| Pga5 |
A |
T |
19: 10,647,024 (GRCm39) |
N260K |
probably benign |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
A |
3: 63,681,076 (GRCm39) |
R184W |
probably damaging |
Het |
| Ppm1b |
T |
C |
17: 85,301,374 (GRCm39) |
F85L |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,819,288 (GRCm39) |
F1094I |
probably benign |
Het |
| Ralgds |
G |
A |
2: 28,432,538 (GRCm39) |
|
probably benign |
Het |
| Rgs17 |
A |
C |
10: 5,783,140 (GRCm39) |
V149G |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
| Sav1 |
T |
C |
12: 70,022,817 (GRCm39) |
E245G |
possibly damaging |
Het |
| Slc25a19 |
T |
C |
11: 115,515,060 (GRCm39) |
I33V |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,095,941 (GRCm39) |
I318V |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,754,707 (GRCm39) |
L140P |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,655 (GRCm39) |
I1071V |
probably benign |
Het |
| Tecta |
G |
T |
9: 42,284,474 (GRCm39) |
N870K |
possibly damaging |
Het |
| Tmem230 |
G |
A |
2: 132,086,048 (GRCm39) |
P38L |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,946,174 (GRCm39) |
H986N |
probably damaging |
Het |
| Wdr41 |
A |
T |
13: 95,114,996 (GRCm39) |
I24L |
possibly 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 |
|
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 |
|
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'- TGATGTTTAAAGGCTGCCAGAAAT -3'
(R):5'- ACTATAACAACTATGACGGCTACT -3'
Sequencing Primer
(F):5'- GGCTGCCAGAAATATAATTTGTCATG -3'
(R):5'- GACGGCTACTTTAATATACACAT -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation