Incidental Mutation 'R8957:Ccdc146'
| ID |
713486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc146
|
| Ensembl Gene |
ENSMUSG00000064280 |
| Gene Name |
coiled-coil domain containing 146 |
| Synonyms |
4930528G09Rik |
| MMRRC Submission |
068793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 21514585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115245]
[ENSMUST00000198930]
|
| AlphaFold |
E9Q9F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
A |
G |
5: 114,951,891 (GRCm39) |
V28A |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,360,784 (GRCm39) |
D503V |
possibly damaging |
Het |
| Aco2 |
A |
T |
15: 81,773,701 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,981,634 (GRCm39) |
Q591R |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,379,121 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,491 (GRCm39) |
N1314S |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,572 (GRCm39) |
M216K |
probably benign |
Het |
| Armh1 |
T |
C |
4: 117,087,104 (GRCm39) |
Y187C |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,576,208 (GRCm39) |
A821E |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,543,701 (GRCm39) |
D650G |
probably null |
Het |
| Cav1 |
T |
A |
6: 17,339,235 (GRCm39) |
F107I |
probably benign |
Het |
| Ccdc57 |
A |
G |
11: 120,776,861 (GRCm39) |
I513T |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,884,557 (GRCm39) |
R314G |
probably benign |
Het |
| Cd1d1 |
T |
C |
3: 86,906,140 (GRCm39) |
D45G |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Col4a1 |
T |
A |
8: 11,295,906 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 121,999,011 (GRCm39) |
G1310R |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,432,410 (GRCm39) |
R136L |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,189,573 (GRCm39) |
V1646M |
|
Het |
| Des |
A |
T |
1: 75,340,295 (GRCm39) |
I401F |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,337,027 (GRCm39) |
D28G |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,953,950 (GRCm39) |
D83G |
probably damaging |
Het |
| Ehd1 |
A |
G |
19: 6,344,439 (GRCm39) |
Y233C |
probably damaging |
Het |
| Fcrlb |
G |
A |
1: 170,735,536 (GRCm39) |
A246V |
probably benign |
Het |
| Firrm |
C |
T |
1: 163,792,335 (GRCm39) |
R554H |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,541 (GRCm39) |
R357G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,575,354 (GRCm39) |
D420G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,873,757 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
C |
T |
6: 120,495,404 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
G |
A |
13: 95,772,154 (GRCm39) |
R1342C |
probably damaging |
Het |
| Isyna1 |
T |
G |
8: 71,049,372 (GRCm39) |
L428R |
probably damaging |
Het |
| Jmjd4 |
C |
T |
11: 59,340,884 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
G |
6: 130,357,609 (GRCm39) |
V6A |
possibly damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,522 (GRCm39) |
K124N |
probably benign |
Het |
| Krtap19-3 |
T |
C |
16: 88,674,833 (GRCm39) |
|
probably benign |
Het |
| Lrrc74b |
T |
C |
16: 17,378,976 (GRCm39) |
T34A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,278,687 (GRCm39) |
Y229C |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,334,636 (GRCm39) |
I373V |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,251,216 (GRCm39) |
Y1086* |
probably null |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,780 (GRCm39) |
K880E |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,220,964 (GRCm39) |
V1656G |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,382 (GRCm39) |
V247A |
probably damaging |
Het |
| Or1a1 |
T |
A |
11: 74,086,772 (GRCm39) |
S148T |
probably damaging |
Het |
| Or5b101 |
T |
A |
19: 13,004,881 (GRCm39) |
I271F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,596,911 (GRCm39) |
W100R |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,554,692 (GRCm39) |
K7N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,872 (GRCm39) |
T401A |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,905,215 (GRCm39) |
I183N |
possibly damaging |
Het |
| Pou5f1 |
T |
G |
17: 35,821,366 (GRCm39) |
L326R |
possibly damaging |
Het |
| Rbm34 |
A |
C |
8: 127,692,208 (GRCm39) |
V178G |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,289,660 (GRCm39) |
V384A |
possibly damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,671 (GRCm39) |
F178L |
unknown |
Het |
| Slco1a6 |
T |
C |
6: 142,091,493 (GRCm39) |
N69S |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,453,873 (GRCm39) |
L11Q |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,113 (GRCm39) |
S255P |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,124,908 (GRCm39) |
Y2701H |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,659,910 (GRCm39) |
F343I |
probably benign |
Het |
| Tmem106c |
A |
T |
15: 97,867,481 (GRCm39) |
I222F |
probably benign |
Het |
| Tmub1 |
G |
T |
5: 24,651,775 (GRCm39) |
T63K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,582,843 (GRCm39) |
T217A |
probably benign |
Het |
| Vmn2r10 |
T |
G |
5: 109,149,780 (GRCm39) |
K421N |
possibly damaging |
Het |
| Zfp975 |
A |
T |
7: 42,311,157 (GRCm39) |
H485Q |
probably damaging |
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 |
|
R9003:Ccdc146
|
UTSW |
5 |
21,508,132 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9252:Ccdc146
|
UTSW |
5 |
21,502,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TCCAGGCCCATTATAAGCGG -3'
(R):5'- GGGAATCATGATTTGCCTGCC -3'
Sequencing Primer
(F):5'- GAATGGGTTCCACTATGGCATTTCC -3'
(R):5'- TGATTTGCCTGCCATTTTTAATATG -3'
|
| Posted On |
2022-05-19 |
Incidental Mutation