Incidental Mutation 'IGL01866:Ccdc146'
ID |
278948 |
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 # |
IGL01866
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
T |
C |
4: 144,255,119 (GRCm39) |
Y180H |
possibly damaging |
Het |
Abi3bp |
A |
T |
16: 56,492,336 (GRCm39) |
I1361L |
probably benign |
Het |
Amph |
A |
T |
13: 19,326,172 (GRCm39) |
D634V |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,583,871 (GRCm39) |
V317I |
possibly damaging |
Het |
Ap4e1 |
G |
A |
2: 126,888,830 (GRCm39) |
V460I |
possibly damaging |
Het |
Arhgap19 |
A |
T |
19: 41,775,016 (GRCm39) |
H198Q |
probably benign |
Het |
Cacna1g |
C |
T |
11: 94,347,937 (GRCm39) |
G717D |
probably damaging |
Het |
Camkk2 |
A |
G |
5: 122,902,013 (GRCm39) |
S99P |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,475,570 (GRCm39) |
Y371* |
probably null |
Het |
Cbl |
A |
T |
9: 44,065,122 (GRCm39) |
C735* |
probably null |
Het |
Col1a2 |
G |
T |
6: 4,524,132 (GRCm39) |
D531Y |
probably damaging |
Het |
Dscam |
T |
A |
16: 96,486,550 (GRCm39) |
T1042S |
probably benign |
Het |
Dtnb |
A |
G |
12: 3,782,626 (GRCm39) |
Y363C |
probably benign |
Het |
Ear10 |
A |
G |
14: 44,160,785 (GRCm39) |
L14P |
probably damaging |
Het |
Egf |
A |
G |
3: 129,529,529 (GRCm39) |
S294P |
probably benign |
Het |
Erbb3 |
T |
C |
10: 128,405,237 (GRCm39) |
*1340W |
probably null |
Het |
Fam217b |
A |
G |
2: 178,062,224 (GRCm39) |
T63A |
probably benign |
Het |
Fig4 |
G |
A |
10: 41,108,160 (GRCm39) |
P680L |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
Hdac10 |
C |
A |
15: 89,008,736 (GRCm39) |
G442W |
probably damaging |
Het |
Mc2r |
C |
T |
18: 68,540,494 (GRCm39) |
M266I |
possibly damaging |
Het |
Mep1b |
A |
G |
18: 21,228,050 (GRCm39) |
Q551R |
probably benign |
Het |
Mtrf1 |
T |
A |
14: 79,638,948 (GRCm39) |
C27S |
probably benign |
Het |
Myo5c |
T |
A |
9: 75,176,864 (GRCm39) |
M603K |
probably benign |
Het |
Nuf2 |
A |
G |
1: 169,326,407 (GRCm39) |
L448P |
possibly damaging |
Het |
Or10a49 |
C |
T |
7: 108,468,006 (GRCm39) |
M118I |
possibly damaging |
Het |
Or1e30 |
A |
T |
11: 73,678,654 (GRCm39) |
I297L |
probably benign |
Het |
Or2b7 |
T |
C |
13: 21,739,343 (GRCm39) |
N283S |
probably benign |
Het |
Or8g33 |
A |
T |
9: 39,338,025 (GRCm39) |
M114K |
probably damaging |
Het |
Ppp2r5c |
T |
C |
12: 110,534,261 (GRCm39) |
Y375H |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,965,325 (GRCm39) |
I317M |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,034,570 (GRCm39) |
T208A |
probably benign |
Het |
Rab3gap1 |
C |
T |
1: 127,818,817 (GRCm39) |
H116Y |
probably damaging |
Het |
Rarb |
T |
A |
14: 16,443,751 (GRCm38) |
D179V |
probably benign |
Het |
Rasal1 |
G |
A |
5: 120,813,488 (GRCm39) |
A621T |
probably damaging |
Het |
Rnf6 |
G |
A |
5: 146,147,717 (GRCm39) |
R434C |
probably damaging |
Het |
Scn10a |
C |
A |
9: 119,464,568 (GRCm39) |
E1011* |
probably null |
Het |
Sec24d |
C |
T |
3: 123,087,244 (GRCm39) |
Q137* |
probably null |
Het |
Slc35g1 |
C |
A |
19: 38,391,642 (GRCm39) |
A308E |
probably damaging |
Het |
Smtnl1 |
C |
A |
2: 84,649,089 (GRCm39) |
C55F |
possibly damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Stt3a |
A |
T |
9: 36,645,662 (GRCm39) |
D676E |
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,031,047 (GRCm39) |
|
probably benign |
Het |
Trabd2b |
A |
G |
4: 114,266,117 (GRCm39) |
T44A |
probably damaging |
Het |
Trim12a |
T |
C |
7: 103,953,360 (GRCm39) |
|
probably benign |
Het |
Tti1 |
A |
T |
2: 157,849,618 (GRCm39) |
D540E |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,987,691 (GRCm39) |
V1094A |
probably benign |
Het |
Vmn1r34 |
A |
G |
6: 66,614,373 (GRCm39) |
Y122H |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp579 |
T |
A |
7: 4,997,257 (GRCm39) |
Q218L |
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 |
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 |
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 |