Incidental Mutation 'IGL01868:Ccdc146'
ID |
278953 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc146
|
Ensembl Gene |
ENSMUSG00000064280 |
Gene Name |
coiled-coil domain containing 146 |
Synonyms |
4930528G09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01868
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 21538052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 91
(A91S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000115245]
|
AlphaFold |
E9Q9F7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030552
AA Change: A91S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030552 Gene: ENSMUSG00000064280 AA Change: A91S
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 |
probably benign
Transcript: ENSMUST00000115245
AA Change: A91S
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110900 Gene: ENSMUSG00000064280 AA Change: A91S
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: ENSMUST00000132473
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
G |
A |
18: 67,547,218 (GRCm39) |
T569M |
possibly damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,560,212 (GRCm39) |
K620* |
probably null |
Het |
Amdhd2 |
G |
T |
17: 24,376,504 (GRCm39) |
T346K |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,902,904 (GRCm39) |
D521G |
probably damaging |
Het |
Ccdc187 |
C |
A |
2: 26,170,960 (GRCm39) |
R506L |
probably benign |
Het |
Cd37 |
T |
C |
7: 44,885,603 (GRCm39) |
Q128R |
probably benign |
Het |
Cdh22 |
T |
A |
2: 164,999,278 (GRCm39) |
M185L |
probably damaging |
Het |
Cib2 |
A |
T |
9: 54,455,759 (GRCm39) |
N68K |
probably damaging |
Het |
Ddx46 |
C |
T |
13: 55,787,683 (GRCm39) |
R96* |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,039,944 (GRCm39) |
H2050Q |
possibly damaging |
Het |
Drgx |
C |
A |
14: 32,330,334 (GRCm39) |
F150L |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,168,888 (GRCm39) |
H1172R |
probably benign |
Het |
Eftud2 |
C |
T |
11: 102,759,953 (GRCm39) |
V132I |
probably benign |
Het |
Fcrl5 |
G |
A |
3: 87,351,014 (GRCm39) |
D87N |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Kat6a |
T |
C |
8: 23,416,471 (GRCm39) |
F660L |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,708,238 (GRCm39) |
M259V |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,619,417 (GRCm39) |
L90* |
probably null |
Het |
Lsm1 |
G |
A |
8: 26,283,821 (GRCm39) |
|
probably null |
Het |
Luzp1 |
T |
C |
4: 136,270,048 (GRCm39) |
I757T |
probably damaging |
Het |
Micall1 |
A |
G |
15: 78,999,260 (GRCm39) |
I76V |
probably benign |
Het |
Mmp21 |
A |
T |
7: 133,277,643 (GRCm39) |
D394E |
probably damaging |
Het |
Mtfr1l |
T |
C |
4: 134,258,018 (GRCm39) |
D68G |
probably null |
Het |
Necab2 |
A |
G |
8: 120,189,315 (GRCm39) |
S162G |
probably benign |
Het |
Or11a4 |
A |
T |
17: 37,536,043 (GRCm39) |
Q9L |
probably benign |
Het |
Or4c100 |
T |
C |
2: 88,356,059 (GRCm39) |
V44A |
possibly damaging |
Het |
Or51b17 |
G |
A |
7: 103,542,583 (GRCm39) |
R120* |
probably null |
Het |
Or6n1 |
C |
T |
1: 173,916,936 (GRCm39) |
T110I |
possibly damaging |
Het |
Pde7b |
A |
T |
10: 20,282,911 (GRCm39) |
C376* |
probably null |
Het |
Pira12 |
G |
A |
7: 3,900,174 (GRCm39) |
Q143* |
probably null |
Het |
Plcb2 |
A |
G |
2: 118,540,071 (GRCm39) |
L1074P |
probably damaging |
Het |
Plcb2 |
G |
T |
2: 118,541,868 (GRCm39) |
T914N |
probably benign |
Het |
Prph |
C |
A |
15: 98,954,224 (GRCm39) |
D207E |
probably damaging |
Het |
Rbp4 |
C |
A |
19: 38,112,968 (GRCm39) |
R37L |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,633,503 (GRCm39) |
|
probably benign |
Het |
Sardh |
T |
G |
2: 27,117,159 (GRCm39) |
Q496P |
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,704 (GRCm39) |
N193Y |
probably benign |
Het |
Slc10a7 |
G |
A |
8: 79,423,965 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
C |
8: 123,816,975 (GRCm39) |
|
probably null |
Het |
Sphkap |
T |
C |
1: 83,258,120 (GRCm39) |
|
probably null |
Het |
Tas2r121 |
T |
A |
6: 132,677,235 (GRCm39) |
I246L |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,052,460 (GRCm39) |
F889S |
probably damaging |
Het |
Tcp10a |
T |
C |
17: 7,597,263 (GRCm39) |
M140T |
possibly damaging |
Het |
Tctn2 |
G |
A |
5: 124,754,591 (GRCm39) |
|
noncoding transcript |
Het |
Tfap2b |
G |
T |
1: 19,284,506 (GRCm39) |
R138L |
probably damaging |
Het |
Tnrc18 |
T |
C |
5: 142,757,567 (GRCm39) |
T985A |
unknown |
Het |
Treml1 |
G |
A |
17: 48,673,035 (GRCm39) |
V211I |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,139,989 (GRCm39) |
Q1191* |
probably null |
Het |
Vim |
G |
A |
2: 13,583,249 (GRCm39) |
R217H |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r77 |
A |
G |
7: 86,452,224 (GRCm39) |
D468G |
probably benign |
Het |
Vmn2r98 |
G |
T |
17: 19,286,548 (GRCm39) |
V349F |
probably benign |
Het |
Vwa7 |
A |
T |
17: 35,240,235 (GRCm39) |
E401V |
probably null |
Het |
Zfp119b |
C |
A |
17: 56,246,866 (GRCm39) |
V75L |
possibly damaging |
Het |
Zfp287 |
C |
T |
11: 62,606,083 (GRCm39) |
E275K |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |