Incidental Mutation 'R9252:Ccdc146'
| ID |
701596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc146
|
| Ensembl Gene |
ENSMUSG00000064280 |
| Gene Name |
coiled-coil domain containing 146 |
| Synonyms |
4930528G09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21502023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 797
(D797G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115245]
[ENSMUST00000198930]
|
| AlphaFold |
E9Q9F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115245
AA Change: D797G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: D797G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
|
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198930
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,920,641 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,865,496 (GRCm39) |
N116D |
probably benign |
Het |
| Arfgef1 |
T |
A |
1: 10,243,122 (GRCm39) |
R1073* |
probably null |
Het |
| Atp6v1d |
T |
A |
12: 78,904,023 (GRCm39) |
Q46L |
probably benign |
Het |
| Brme1 |
A |
G |
8: 84,898,878 (GRCm39) |
S589G |
possibly damaging |
Het |
| Car15 |
A |
T |
16: 17,653,246 (GRCm39) |
L307* |
probably null |
Het |
| Catspere2 |
A |
T |
1: 177,938,996 (GRCm39) |
H623L |
possibly damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,125,507 (GRCm39) |
D112E |
unknown |
Het |
| Ccp110 |
A |
G |
7: 118,321,673 (GRCm39) |
I443V |
probably benign |
Het |
| Cd74 |
T |
A |
18: 60,941,364 (GRCm39) |
M103K |
possibly damaging |
Het |
| Cdca2 |
T |
A |
14: 67,914,831 (GRCm39) |
R809S |
possibly damaging |
Het |
| Cfap46 |
A |
T |
7: 139,198,165 (GRCm39) |
V2061E |
unknown |
Het |
| Cimap1b |
T |
C |
15: 89,262,601 (GRCm39) |
S119G |
probably benign |
Het |
| Ddx11 |
G |
A |
17: 66,457,807 (GRCm39) |
E873K |
probably benign |
Het |
| Gucy2d |
G |
A |
7: 98,116,979 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,309,834 (GRCm39) |
S1061R |
probably damaging |
Het |
| Ildr1 |
G |
A |
16: 36,536,574 (GRCm39) |
R201H |
probably damaging |
Het |
| Jakmip2 |
T |
A |
18: 43,715,194 (GRCm39) |
I111F |
possibly damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,355 (GRCm39) |
D249G |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,002,776 (GRCm39) |
T208S |
probably damaging |
Het |
| Mgam |
T |
G |
6: 40,706,577 (GRCm39) |
M76R |
probably damaging |
Het |
| Mib1 |
T |
G |
18: 10,800,088 (GRCm39) |
I809S |
probably benign |
Het |
| Myh8 |
G |
T |
11: 67,177,302 (GRCm39) |
R456L |
probably damaging |
Het |
| Mzf1 |
T |
C |
7: 12,777,647 (GRCm39) |
T665A |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,699,943 (GRCm39) |
H27R |
|
Het |
| Nhsl3 |
A |
G |
4: 129,117,269 (GRCm39) |
V510A |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,579,415 (GRCm39) |
M1161T |
unknown |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Or13c7b |
C |
T |
4: 43,821,109 (GRCm39) |
G84D |
probably benign |
Het |
| Pde8b |
C |
T |
13: 95,169,424 (GRCm39) |
D567N |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,740,087 (GRCm39) |
I491T |
possibly damaging |
Het |
| Plcd3 |
G |
T |
11: 102,968,380 (GRCm39) |
Y392* |
probably null |
Het |
| Plcd4 |
A |
G |
1: 74,588,359 (GRCm39) |
I69M |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,356,443 (GRCm39) |
Y799C |
probably damaging |
Het |
| Pnlip |
T |
A |
19: 58,669,273 (GRCm39) |
I424N |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,326,550 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,247 (GRCm39) |
V568A |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,125,143 (GRCm39) |
E201G |
probably damaging |
Het |
| Scg2 |
C |
T |
1: 79,414,069 (GRCm39) |
R218H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,622,535 (GRCm39) |
H223R |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,913,842 (GRCm39) |
F312I |
probably damaging |
Het |
| Slc24a1 |
T |
A |
9: 64,835,394 (GRCm39) |
E911V |
probably damaging |
Het |
| St8sia4 |
CCTCT |
CCT |
1: 95,555,232 (GRCm39) |
|
probably null |
Het |
| Stat1 |
C |
A |
1: 52,174,831 (GRCm39) |
Q178K |
probably benign |
Het |
| Stat6 |
A |
C |
10: 127,483,661 (GRCm39) |
N75T |
probably benign |
Het |
| Stk10 |
G |
T |
11: 32,538,915 (GRCm39) |
K251N |
|
Het |
| Sult1e1 |
G |
T |
5: 87,737,973 (GRCm39) |
A36E |
probably damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,899,477 (GRCm39) |
S466G |
probably benign |
Het |
| Thsd4 |
C |
A |
9: 59,964,230 (GRCm39) |
A421S |
probably benign |
Het |
| Tsga10 |
T |
A |
1: 37,873,364 (GRCm39) |
I172L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,600,856 (GRCm39) |
M18842K |
probably benign |
Het |
| Ttpal |
T |
G |
2: 163,449,105 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
A |
G |
9: 106,088,999 (GRCm39) |
D62G |
probably benign |
Het |
| Ube3d |
C |
A |
9: 86,254,501 (GRCm39) |
V327F |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,706 (GRCm39) |
S40P |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,424,553 (GRCm39) |
I2021N |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,849 (GRCm39) |
Y701F |
probably benign |
Het |
|
| Other mutations in Ccdc146 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Ccdc146
|
APN |
5 |
21,506,420 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01066:Ccdc146
|
APN |
5 |
21,524,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01399:Ccdc146
|
APN |
5 |
21,499,611 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01866:Ccdc146
|
APN |
5 |
21,538,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01868:Ccdc146
|
APN |
5 |
21,538,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01869:Ccdc146
|
APN |
5 |
21,521,837 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02213:Ccdc146
|
APN |
5 |
21,521,902 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02338:Ccdc146
|
APN |
5 |
21,524,604 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02553:Ccdc146
|
APN |
5 |
21,502,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02838:Ccdc146
|
APN |
5 |
21,502,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
Starcraft
|
UTSW |
5 |
21,604,612 (GRCm39) |
splice site |
probably null |
|
|
R0051:Ccdc146
|
UTSW |
5 |
21,521,902 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0051:Ccdc146
|
UTSW |
5 |
21,521,902 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0055:Ccdc146
|
UTSW |
5 |
21,502,004 (GRCm39) |
splice site |
probably null |
|
|
R0115:Ccdc146
|
UTSW |
5 |
21,527,754 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0373:Ccdc146
|
UTSW |
5 |
21,524,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1251:Ccdc146
|
UTSW |
5 |
21,498,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1355:Ccdc146
|
UTSW |
5 |
21,526,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Ccdc146
|
UTSW |
5 |
21,604,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1405:Ccdc146
|
UTSW |
5 |
21,604,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Ccdc146
|
UTSW |
5 |
21,524,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Ccdc146
|
UTSW |
5 |
21,524,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Ccdc146
|
UTSW |
5 |
21,535,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Ccdc146
|
UTSW |
5 |
21,499,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Ccdc146
|
UTSW |
5 |
21,506,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2271:Ccdc146
|
UTSW |
5 |
21,604,719 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2329:Ccdc146
|
UTSW |
5 |
21,513,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2518:Ccdc146
|
UTSW |
5 |
21,510,526 (GRCm39) |
missense |
probably benign |
|
|
R2680:Ccdc146
|
UTSW |
5 |
21,510,267 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3116:Ccdc146
|
UTSW |
5 |
21,521,953 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3121:Ccdc146
|
UTSW |
5 |
21,499,591 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3122:Ccdc146
|
UTSW |
5 |
21,499,591 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3159:Ccdc146
|
UTSW |
5 |
21,604,790 (GRCm39) |
missense |
unknown |
|
|
R3436:Ccdc146
|
UTSW |
5 |
21,502,003 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4043:Ccdc146
|
UTSW |
5 |
21,521,941 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4226:Ccdc146
|
UTSW |
5 |
21,527,756 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4493:Ccdc146
|
UTSW |
5 |
21,508,191 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5013:Ccdc146
|
UTSW |
5 |
21,538,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Ccdc146
|
UTSW |
5 |
21,604,612 (GRCm39) |
splice site |
probably null |
|
|
R5051:Ccdc146
|
UTSW |
5 |
21,508,081 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5384:Ccdc146
|
UTSW |
5 |
21,513,711 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5532:Ccdc146
|
UTSW |
5 |
21,510,329 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5906:Ccdc146
|
UTSW |
5 |
21,506,350 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5927:Ccdc146
|
UTSW |
5 |
21,513,619 (GRCm39) |
nonsense |
probably null |
|
|
R5951:Ccdc146
|
UTSW |
5 |
21,524,577 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5978:Ccdc146
|
UTSW |
5 |
21,521,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5990:Ccdc146
|
UTSW |
5 |
21,523,180 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6123:Ccdc146
|
UTSW |
5 |
21,510,595 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6217:Ccdc146
|
UTSW |
5 |
21,522,900 (GRCm39) |
splice site |
probably null |
|
|
R6276:Ccdc146
|
UTSW |
5 |
21,506,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6665:Ccdc146
|
UTSW |
5 |
21,508,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Ccdc146
|
UTSW |
5 |
21,510,272 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7204:Ccdc146
|
UTSW |
5 |
21,513,624 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7336:Ccdc146
|
UTSW |
5 |
21,508,110 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7608:Ccdc146
|
UTSW |
5 |
21,506,450 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8310:Ccdc146
|
UTSW |
5 |
21,506,469 (GRCm39) |
intron |
probably benign |
|
|
R8427:Ccdc146
|
UTSW |
5 |
21,604,790 (GRCm39) |
missense |
unknown |
|
|
R8927:Ccdc146
|
UTSW |
5 |
21,538,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Ccdc146
|
UTSW |
5 |
21,538,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Ccdc146
|
UTSW |
5 |
21,514,585 (GRCm39) |
intron |
probably benign |
|
|
R9003:Ccdc146
|
UTSW |
5 |
21,508,132 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9425:Ccdc146
|
UTSW |
5 |
21,508,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9612:Ccdc146
|
UTSW |
5 |
21,535,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9774:Ccdc146
|
UTSW |
5 |
21,506,247 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTCTGTCACTCAAGGAG -3'
(R):5'- ACAGCTCCAGAGACTTTTCAG -3'
Sequencing Primer
(F):5'- CTGTTACTTAAGAAGGAGGGTTCC -3'
(R):5'- AGCAATGTGTCTCTGTCG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation