Incidental Mutation 'R2680:Ccdc146'
ID |
250892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc146
|
Ensembl Gene |
ENSMUSG00000064280 |
Gene Name |
coiled-coil domain containing 146 |
Synonyms |
4930528G09Rik |
MMRRC Submission |
040433-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 21510267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 582
(A582T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115245]
[ENSMUST00000198930]
|
AlphaFold |
E9Q9F7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115245
AA Change: A582T
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110900 Gene: ENSMUSG00000064280 AA Change: A582T
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
BC024139 |
A |
G |
15: 76,005,939 (GRCm39) |
W421R |
probably damaging |
Het |
Car11 |
T |
C |
7: 45,351,909 (GRCm39) |
S113P |
probably benign |
Het |
Cct8l1 |
A |
G |
5: 25,722,133 (GRCm39) |
T283A |
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,419,043 (GRCm39) |
I1118V |
probably benign |
Het |
Copa |
C |
T |
1: 171,948,971 (GRCm39) |
Q1199* |
probably null |
Het |
Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
Cspp1 |
A |
G |
1: 10,174,530 (GRCm39) |
D661G |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,466,474 (GRCm39) |
Q729R |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,924,751 (GRCm39) |
I2168V |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,609,681 (GRCm39) |
R2821H |
probably damaging |
Het |
Ercc5 |
T |
C |
1: 44,196,133 (GRCm39) |
V42A |
probably benign |
Het |
Evc |
A |
G |
5: 37,467,581 (GRCm39) |
V566A |
probably benign |
Het |
Fcrl2 |
T |
C |
3: 87,164,656 (GRCm39) |
Y290C |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,539,364 (GRCm39) |
R171G |
probably damaging |
Het |
Galnt17 |
G |
A |
5: 131,140,661 (GRCm39) |
P152L |
probably damaging |
Het |
Gfi1 |
A |
G |
5: 107,869,297 (GRCm39) |
L245P |
probably damaging |
Het |
Heatr4 |
T |
C |
12: 84,027,237 (GRCm39) |
K7E |
possibly damaging |
Het |
Ifit3b |
A |
G |
19: 34,589,705 (GRCm39) |
N294D |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,541,265 (GRCm39) |
Y230C |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,232,875 (GRCm39) |
V1953I |
probably benign |
Het |
Ikzf5 |
T |
C |
7: 130,998,490 (GRCm39) |
D14G |
probably damaging |
Het |
Il12rb2 |
T |
A |
6: 67,331,789 (GRCm39) |
T259S |
possibly damaging |
Het |
Itgae |
T |
A |
11: 73,005,752 (GRCm39) |
D305E |
probably damaging |
Het |
Kif23 |
A |
C |
9: 61,844,758 (GRCm39) |
D90E |
probably benign |
Het |
Kprp |
A |
G |
3: 92,731,770 (GRCm39) |
F427L |
unknown |
Het |
Lmnb1 |
T |
A |
18: 56,864,177 (GRCm39) |
Y261N |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,016,981 (GRCm39) |
V17A |
probably benign |
Het |
Mfap4 |
T |
C |
11: 61,378,057 (GRCm39) |
Y190H |
probably benign |
Het |
Mlh1 |
T |
C |
9: 111,065,085 (GRCm39) |
|
probably null |
Het |
Mocos |
C |
A |
18: 24,809,686 (GRCm39) |
Q430K |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,774,822 (GRCm39) |
F794L |
probably damaging |
Het |
Nedd4l |
A |
T |
18: 65,296,201 (GRCm39) |
I197F |
possibly damaging |
Het |
Nefm |
A |
G |
14: 68,361,235 (GRCm39) |
L343P |
probably damaging |
Het |
Nfatc4 |
A |
G |
14: 56,070,291 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
T |
A |
7: 26,148,655 (GRCm39) |
|
probably null |
Het |
Nlrp4f |
A |
T |
13: 65,342,157 (GRCm39) |
L496* |
probably null |
Het |
Nom1 |
T |
C |
5: 29,648,415 (GRCm39) |
F654S |
probably damaging |
Het |
Or4k2 |
A |
T |
14: 50,424,304 (GRCm39) |
Y123* |
probably null |
Het |
Pcdhac2 |
A |
G |
18: 37,278,639 (GRCm39) |
K540E |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,608,933 (GRCm39) |
N1974S |
possibly damaging |
Het |
Pik3c3 |
T |
C |
18: 30,477,131 (GRCm39) |
|
probably null |
Het |
Pik3ca |
C |
T |
3: 32,490,697 (GRCm39) |
R115* |
probably null |
Het |
Pik3ca |
T |
C |
3: 32,498,034 (GRCm39) |
I492T |
probably benign |
Het |
Ppp1ca |
G |
A |
19: 4,244,594 (GRCm39) |
E218K |
possibly damaging |
Het |
Prex1 |
G |
T |
2: 166,443,692 (GRCm39) |
D492E |
possibly damaging |
Het |
Scaf8 |
T |
C |
17: 3,247,866 (GRCm39) |
V1063A |
possibly damaging |
Het |
Scn3a |
G |
T |
2: 65,366,880 (GRCm39) |
N47K |
probably benign |
Het |
Sec61a2 |
G |
T |
2: 5,878,556 (GRCm39) |
N348K |
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,234,715 (GRCm39) |
E166G |
probably damaging |
Het |
Slc19a2 |
C |
A |
1: 164,076,982 (GRCm39) |
T54K |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,249,113 (GRCm39) |
I765F |
probably damaging |
Het |
Snap91 |
A |
T |
9: 86,761,603 (GRCm39) |
M1K |
probably null |
Het |
Spef1l |
T |
C |
7: 139,558,474 (GRCm39) |
D41G |
probably damaging |
Het |
Strc |
T |
C |
2: 121,195,592 (GRCm39) |
H1619R |
probably damaging |
Het |
Tbl1xr1 |
C |
T |
3: 22,245,615 (GRCm39) |
T207M |
possibly damaging |
Het |
Tchp |
T |
C |
5: 114,847,580 (GRCm39) |
|
probably null |
Het |
Tln1 |
A |
T |
4: 43,539,668 (GRCm39) |
F1581Y |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,922,594 (GRCm39) |
V2469A |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r225 |
T |
A |
17: 20,723,055 (GRCm39) |
F165L |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,322,178 (GRCm39) |
D173G |
possibly damaging |
Het |
Vmn2r6 |
A |
C |
3: 64,445,707 (GRCm39) |
S673A |
possibly damaging |
Het |
Vta1 |
G |
A |
10: 14,581,171 (GRCm39) |
|
probably benign |
Het |
Wwc1 |
T |
C |
11: 35,766,756 (GRCm39) |
T500A |
probably benign |
Het |
Zfp784 |
T |
A |
7: 5,039,116 (GRCm39) |
Q147H |
possibly 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 |
|
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'- CAACTACAATTGTATCGATCCTGG -3'
(R):5'- TTTGGGCAAAAGTGTTACTTGC -3'
Sequencing Primer
(F):5'- GTATCGATCCTGGAAATTGCCAC -3'
(R):5'- CAGAGAATTTGCCAGCTTG -3'
|
Posted On |
2014-12-04 |