Incidental Mutation 'R0051:Ccdc146'
| ID |
192637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc146
|
| Ensembl Gene |
ENSMUSG00000064280 |
| Gene Name |
coiled-coil domain containing 146 |
| Synonyms |
4930528G09Rik |
| MMRRC Submission |
038345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0051 (G1)
|
| Quality Score |
50 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21521902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 374
(R374L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000115245]
[ENSMUST00000198930]
|
| AlphaFold |
E9Q9F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030552
|
| SMART Domains |
Protein: ENSMUSP00000030552
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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115245
AA Change: R374L
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: R374L
| 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 |
noncoding transcript
Transcript: ENSMUST00000123796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199553
|
| Meta Mutation Damage Score |
0.0710 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
| Abr |
T |
A |
11: 76,363,328 (GRCm39) |
Q163L |
probably benign |
Het |
| Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
| Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
| Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
| Cimap1a |
C |
A |
7: 140,430,134 (GRCm39) |
|
probably benign |
Het |
| Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
| Dcp2 |
T |
A |
18: 44,538,441 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
| Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Dnah7a |
T |
G |
1: 53,560,245 (GRCm39) |
|
probably benign |
Het |
| Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
| Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
| Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
| Emc1 |
T |
A |
4: 139,102,474 (GRCm39) |
M923K |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,078,411 (GRCm39) |
S458T |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,966,163 (GRCm39) |
F319L |
probably damaging |
Het |
| Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,096,962 (GRCm39) |
S24P |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,547,509 (GRCm39) |
E1239G |
probably damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,325,333 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
| Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,358,164 (GRCm39) |
|
probably null |
Het |
| Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,828,583 (GRCm39) |
W508R |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
| Stac3 |
G |
A |
10: 127,344,017 (GRCm39) |
R305H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Syna |
A |
T |
5: 134,588,397 (GRCm39) |
L184H |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
Het |
| Zfp352 |
T |
C |
4: 90,112,522 (GRCm39) |
S221P |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,285,512 (GRCm39) |
V43A |
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,597,706 (GRCm39) |
T527A |
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 |
|
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 |
|
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'- GGCAGCTTGATACTGGGTCCTTTAG -3'
(R):5'- CCAACACACAAAAGTAGCTGATTTGGG -3'
Sequencing Primer
(F):5'- GCCAATCaaacaaaacaaaacaaaac -3'
(R):5'- CAAAAGTAGCTGATTTGGGTTTCAC -3'
|
| Posted On |
2014-05-20 |
Incidental Mutation