Incidental Mutation 'R5532:Ccdc146'
ID |
436212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc146
|
Ensembl Gene |
ENSMUSG00000064280 |
Gene Name |
coiled-coil domain containing 146 |
Synonyms |
4930528G09Rik |
MMRRC Submission |
043090-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5532 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21510329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 561
(V561A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115245]
[ENSMUST00000198930]
|
AlphaFold |
E9Q9F7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
AA Change: V561A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000110900 Gene: ENSMUSG00000064280 AA Change: V561A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199553
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,530,293 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
G |
15: 80,848,110 (GRCm39) |
P118A |
probably damaging |
Het |
Ano6 |
C |
T |
15: 95,860,122 (GRCm39) |
P748L |
probably damaging |
Het |
Arhgap10 |
A |
T |
8: 78,146,701 (GRCm39) |
N234K |
probably benign |
Het |
Arhgap18 |
T |
A |
10: 26,722,104 (GRCm39) |
I25K |
possibly damaging |
Het |
AW551984 |
T |
C |
9: 39,508,481 (GRCm39) |
Y345C |
probably damaging |
Het |
Cenpv |
G |
A |
11: 62,418,398 (GRCm39) |
T185M |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,153,163 (GRCm39) |
D3683V |
probably damaging |
Het |
Galns |
T |
C |
8: 123,311,765 (GRCm39) |
D415G |
possibly damaging |
Het |
Gatad2a |
G |
A |
8: 70,369,070 (GRCm39) |
T259M |
probably damaging |
Het |
Gja8 |
T |
C |
3: 96,827,648 (GRCm39) |
S5G |
probably benign |
Het |
Ifi209 |
T |
C |
1: 173,466,542 (GRCm39) |
S125P |
probably damaging |
Het |
Iigp1c |
A |
G |
18: 60,379,142 (GRCm39) |
I226V |
probably benign |
Het |
Il12rb2 |
G |
A |
6: 67,269,246 (GRCm39) |
R856W |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 65,869,622 (GRCm39) |
Y605* |
probably null |
Het |
Klk1b16 |
T |
C |
7: 43,790,950 (GRCm39) |
S251P |
probably benign |
Het |
Map2 |
A |
G |
1: 66,453,779 (GRCm39) |
N890D |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,863,746 (GRCm39) |
S324T |
probably benign |
Het |
Mmp28 |
T |
C |
11: 83,333,684 (GRCm39) |
D419G |
probably damaging |
Het |
Mtnr1b |
A |
G |
9: 15,774,210 (GRCm39) |
L283P |
probably benign |
Het |
Ndufb7 |
T |
A |
8: 84,298,063 (GRCm39) |
Y95N |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,309,075 (GRCm39) |
R280W |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,174,245 (GRCm39) |
Y687H |
probably damaging |
Het |
Or6f1 |
A |
C |
7: 85,970,879 (GRCm39) |
F94V |
possibly damaging |
Het |
Or8b40 |
C |
T |
9: 38,027,923 (GRCm39) |
T277I |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,608,943 (GRCm39) |
T240A |
probably damaging |
Het |
Or8h9 |
T |
A |
2: 86,788,924 (GRCm39) |
R293* |
probably null |
Het |
Pabpc4l |
T |
C |
3: 46,401,044 (GRCm39) |
D200G |
probably benign |
Het |
Plekhg6 |
T |
C |
6: 125,349,514 (GRCm39) |
E361G |
possibly damaging |
Het |
Pramel31 |
A |
T |
4: 144,090,061 (GRCm39) |
D367V |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,819,046 (GRCm39) |
Y1423C |
probably damaging |
Het |
Rsf1 |
G |
A |
7: 97,329,902 (GRCm39) |
D1143N |
probably damaging |
Het |
Spsb4 |
C |
T |
9: 96,877,627 (GRCm39) |
|
probably null |
Het |
Strada |
G |
T |
11: 106,061,843 (GRCm39) |
A136E |
probably damaging |
Het |
Syce2 |
A |
T |
8: 85,610,131 (GRCm39) |
Q73L |
probably damaging |
Het |
Teddm2 |
A |
T |
1: 153,726,130 (GRCm39) |
V195D |
probably benign |
Het |
Tex36 |
A |
T |
7: 133,203,712 (GRCm39) |
N12K |
probably benign |
Het |
Ubtf |
A |
G |
11: 102,199,785 (GRCm39) |
S484P |
probably benign |
Het |
Ufd1 |
T |
G |
16: 18,636,680 (GRCm39) |
L66R |
probably damaging |
Het |
Vmn2r74 |
C |
T |
7: 85,601,197 (GRCm39) |
A814T |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly damaging |
Het |
Xrcc1 |
T |
A |
7: 24,267,353 (GRCm39) |
|
probably null |
Het |
Zfp277 |
A |
C |
12: 40,385,308 (GRCm39) |
C305G |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,579,740 (GRCm39) |
C248S |
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 |
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'- TGTCACAGCCTCAGTGTTG -3'
(R):5'- GGACCTTGAAATCAGGCTATACAAG -3'
Sequencing Primer
(F):5'- AGCCTCAGTGTTGCCGTG -3'
(R):5'- CTTGAAATCAGGCTATACAAGAAGAG -3'
|
Posted On |
2016-10-24 |