Incidental Mutation 'IGL02740:Ccdc141'
ID |
305851 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc141
|
Ensembl Gene |
ENSMUSG00000044033 |
Gene Name |
coiled-coil domain containing 141 |
Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02740
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76884953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 563
(T563A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049544]
[ENSMUST00000164114]
|
AlphaFold |
E9Q8Q6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028406
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049544
AA Change: T563A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000052945 Gene: ENSMUSG00000044033 AA Change: T563A
Domain | Start | End | E-Value | Type |
SPEC
|
26 |
128 |
2.87e-1 |
SMART |
Blast:SPEC
|
132 |
222 |
1e-40 |
BLAST |
low complexity region
|
223 |
251 |
N/A |
INTRINSIC |
SPEC
|
252 |
353 |
3.61e-1 |
SMART |
Blast:SPEC
|
356 |
453 |
2e-49 |
BLAST |
Blast:SPEC
|
461 |
562 |
1e-16 |
BLAST |
low complexity region
|
569 |
583 |
N/A |
INTRINSIC |
Blast:SPEC
|
688 |
772 |
7e-30 |
BLAST |
low complexity region
|
773 |
785 |
N/A |
INTRINSIC |
Blast:SPEC
|
790 |
894 |
2e-24 |
BLAST |
Blast:SPEC
|
907 |
1009 |
4e-44 |
BLAST |
Blast:SPEC
|
1012 |
1118 |
9e-63 |
BLAST |
low complexity region
|
1203 |
1231 |
N/A |
INTRINSIC |
Blast:IG
|
1305 |
1416 |
5e-54 |
BLAST |
SCOP:d1g1ca_
|
1406 |
1443 |
1e-9 |
SMART |
Blast:IG
|
1416 |
1444 |
2e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164114
AA Change: T563A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000128736 Gene: ENSMUSG00000044033 AA Change: T563A
Domain | Start | End | E-Value | Type |
SPEC
|
26 |
128 |
2.87e-1 |
SMART |
Blast:SPEC
|
132 |
222 |
2e-40 |
BLAST |
low complexity region
|
223 |
251 |
N/A |
INTRINSIC |
SPEC
|
252 |
353 |
3.61e-1 |
SMART |
Blast:SPEC
|
356 |
453 |
2e-49 |
BLAST |
Blast:SPEC
|
461 |
562 |
1e-16 |
BLAST |
low complexity region
|
569 |
583 |
N/A |
INTRINSIC |
Blast:SPEC
|
688 |
772 |
7e-30 |
BLAST |
low complexity region
|
773 |
785 |
N/A |
INTRINSIC |
Blast:SPEC
|
790 |
894 |
3e-24 |
BLAST |
Blast:SPEC
|
907 |
1009 |
4e-44 |
BLAST |
Blast:SPEC
|
1012 |
1118 |
1e-62 |
BLAST |
low complexity region
|
1203 |
1231 |
N/A |
INTRINSIC |
IGc2
|
1422 |
1489 |
1.27e-5 |
SMART |
transmembrane domain
|
1510 |
1529 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout impairs migration of neurons in the somatosensory cortex, resulting in increased anxiety and hyperactivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
C |
T |
1: 59,209,078 (GRCm39) |
E1494K |
probably benign |
Het |
Antxr2 |
A |
G |
5: 98,178,251 (GRCm39) |
|
probably benign |
Het |
Arhgap23 |
A |
C |
11: 97,365,843 (GRCm39) |
K998Q |
probably damaging |
Het |
Bap1 |
A |
G |
14: 30,978,729 (GRCm39) |
N47D |
possibly damaging |
Het |
Carmil1 |
A |
G |
13: 24,278,501 (GRCm39) |
I156T |
probably damaging |
Het |
Cct7 |
T |
C |
6: 85,445,252 (GRCm39) |
F501S |
probably benign |
Het |
Cd59b |
A |
G |
2: 103,909,242 (GRCm39) |
I8V |
probably benign |
Het |
Cep135 |
T |
C |
5: 76,786,115 (GRCm39) |
|
probably null |
Het |
Cep170 |
T |
G |
1: 176,621,166 (GRCm39) |
T4P |
probably damaging |
Het |
Chaf1a |
G |
T |
17: 56,374,500 (GRCm39) |
G896W |
probably damaging |
Het |
Cpt1b |
A |
T |
15: 89,308,535 (GRCm39) |
L131Q |
probably damaging |
Het |
Dcaf13 |
C |
T |
15: 39,008,495 (GRCm39) |
R366* |
probably null |
Het |
Ddr2 |
A |
T |
1: 169,812,514 (GRCm39) |
N659K |
probably damaging |
Het |
Dmrt2 |
C |
A |
19: 25,655,837 (GRCm39) |
L479I |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,903,927 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
C |
T |
18: 20,660,765 (GRCm39) |
T368M |
possibly damaging |
Het |
Dspp |
C |
A |
5: 104,325,104 (GRCm39) |
S489* |
probably null |
Het |
Eed |
A |
C |
7: 89,621,464 (GRCm39) |
V112G |
possibly damaging |
Het |
Ehmt1 |
T |
A |
2: 24,705,851 (GRCm39) |
|
probably benign |
Het |
Elavl3 |
T |
C |
9: 21,947,675 (GRCm39) |
D89G |
probably benign |
Het |
Ercc5 |
T |
C |
1: 44,206,652 (GRCm39) |
S522P |
probably benign |
Het |
Esrrg |
T |
C |
1: 187,930,938 (GRCm39) |
L320P |
probably benign |
Het |
Gadl1 |
T |
A |
9: 115,835,629 (GRCm39) |
Y352* |
probably null |
Het |
Gemin5 |
G |
A |
11: 58,042,390 (GRCm39) |
A477V |
probably damaging |
Het |
Gm3086 |
A |
T |
12: 70,016,095 (GRCm39) |
|
probably benign |
Het |
Gm8082 |
C |
T |
14: 42,846,570 (GRCm39) |
|
probably benign |
Het |
Gpr180 |
T |
C |
14: 118,377,161 (GRCm39) |
L54P |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,230,585 (GRCm39) |
V512M |
probably benign |
Het |
Ighv5-4 |
A |
G |
12: 113,561,100 (GRCm39) |
S107P |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,464,925 (GRCm39) |
*460Q |
probably null |
Het |
Nfkbiz |
G |
T |
16: 55,638,317 (GRCm39) |
T381N |
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,493,657 (GRCm39) |
N84Y |
probably benign |
Het |
Or5d39 |
T |
A |
2: 87,979,601 (GRCm39) |
H254L |
probably damaging |
Het |
Or8b46 |
T |
C |
9: 38,450,226 (GRCm39) |
F12L |
probably damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,585 (GRCm39) |
I126V |
probably benign |
Het |
Pou2f1 |
G |
A |
1: 165,710,685 (GRCm39) |
Q523* |
probably null |
Het |
Ptcra |
A |
G |
17: 47,069,473 (GRCm39) |
S133P |
probably damaging |
Het |
Ptgfrn |
A |
T |
3: 100,980,253 (GRCm39) |
D362E |
possibly damaging |
Het |
Rbm33 |
A |
T |
5: 28,536,121 (GRCm39) |
D19V |
probably damaging |
Het |
Rnf4 |
T |
A |
5: 34,506,898 (GRCm39) |
V74D |
possibly damaging |
Het |
Rprd1b |
A |
G |
2: 157,889,899 (GRCm39) |
D7G |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,278,305 (GRCm39) |
T659A |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,316,883 (GRCm39) |
N894D |
probably benign |
Het |
Scn1a |
G |
A |
2: 66,155,106 (GRCm39) |
R618C |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,148,421 (GRCm39) |
D1041E |
probably benign |
Het |
Slc43a1 |
G |
T |
2: 84,690,094 (GRCm39) |
A424S |
probably damaging |
Het |
Sprtn |
T |
C |
8: 125,625,042 (GRCm39) |
L49P |
probably damaging |
Het |
Sv2a |
G |
T |
3: 96,092,723 (GRCm39) |
R141L |
possibly damaging |
Het |
Thsd7b |
C |
T |
1: 129,540,864 (GRCm39) |
S246F |
probably damaging |
Het |
Tmem117 |
A |
T |
15: 94,612,863 (GRCm39) |
D133V |
probably benign |
Het |
Tnn |
A |
T |
1: 159,968,347 (GRCm39) |
|
probably benign |
Het |
Triobp |
G |
A |
15: 78,850,889 (GRCm39) |
V348I |
probably benign |
Het |
Trps1 |
A |
T |
15: 50,709,935 (GRCm39) |
D134E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,162 (GRCm39) |
I19584V |
probably benign |
Het |
Uqcrfs1 |
T |
C |
13: 30,725,006 (GRCm39) |
H178R |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,380,585 (GRCm39) |
Q2298L |
possibly damaging |
Het |
Vmn2r67 |
A |
G |
7: 84,785,818 (GRCm39) |
I729T |
probably damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,653,366 (GRCm39) |
M544L |
probably benign |
Het |
Vps41 |
T |
A |
13: 19,022,850 (GRCm39) |
L404Q |
probably damaging |
Het |
Xrcc5 |
T |
G |
1: 72,379,240 (GRCm39) |
|
probably null |
Het |
Zfp735 |
A |
G |
11: 73,601,412 (GRCm39) |
K119E |
possibly damaging |
Het |
|
Other mutations in Ccdc141 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00517:Ccdc141
|
APN |
2 |
76,884,988 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01396:Ccdc141
|
APN |
2 |
76,958,669 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01408:Ccdc141
|
APN |
2 |
76,876,023 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01633:Ccdc141
|
APN |
2 |
76,919,593 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01982:Ccdc141
|
APN |
2 |
76,861,003 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02105:Ccdc141
|
APN |
2 |
76,879,921 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02307:Ccdc141
|
APN |
2 |
76,859,686 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02645:Ccdc141
|
APN |
2 |
76,905,211 (GRCm39) |
nonsense |
probably null |
|
IGL02737:Ccdc141
|
APN |
2 |
76,888,268 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02949:Ccdc141
|
APN |
2 |
76,857,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03127:Ccdc141
|
APN |
2 |
76,859,579 (GRCm39) |
critical splice donor site |
probably null |
|
Verloren
|
UTSW |
2 |
76,857,992 (GRCm39) |
missense |
probably damaging |
1.00 |
Verschied
|
UTSW |
2 |
76,938,700 (GRCm39) |
splice site |
probably benign |
|
R0153:Ccdc141
|
UTSW |
2 |
76,995,582 (GRCm39) |
intron |
probably benign |
|
R0384:Ccdc141
|
UTSW |
2 |
76,857,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R0423:Ccdc141
|
UTSW |
2 |
76,869,794 (GRCm39) |
missense |
probably damaging |
0.96 |
R0573:Ccdc141
|
UTSW |
2 |
76,869,837 (GRCm39) |
missense |
probably benign |
0.00 |
R1332:Ccdc141
|
UTSW |
2 |
76,844,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R1336:Ccdc141
|
UTSW |
2 |
76,844,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R1355:Ccdc141
|
UTSW |
2 |
76,860,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R1416:Ccdc141
|
UTSW |
2 |
76,845,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R1659:Ccdc141
|
UTSW |
2 |
76,885,027 (GRCm39) |
missense |
probably benign |
0.41 |
R1726:Ccdc141
|
UTSW |
2 |
76,938,700 (GRCm39) |
splice site |
probably benign |
|
R1799:Ccdc141
|
UTSW |
2 |
76,842,015 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1837:Ccdc141
|
UTSW |
2 |
76,842,009 (GRCm39) |
missense |
probably benign |
0.00 |
R1839:Ccdc141
|
UTSW |
2 |
76,842,009 (GRCm39) |
missense |
probably benign |
0.00 |
R1918:Ccdc141
|
UTSW |
2 |
76,845,047 (GRCm39) |
missense |
probably benign |
0.00 |
R2019:Ccdc141
|
UTSW |
2 |
76,841,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Ccdc141
|
UTSW |
2 |
76,889,951 (GRCm39) |
missense |
probably benign |
0.28 |
R2158:Ccdc141
|
UTSW |
2 |
76,861,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R2256:Ccdc141
|
UTSW |
2 |
76,962,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R2359:Ccdc141
|
UTSW |
2 |
77,000,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R2382:Ccdc141
|
UTSW |
2 |
76,905,342 (GRCm39) |
missense |
probably benign |
0.11 |
R2382:Ccdc141
|
UTSW |
2 |
76,841,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R3110:Ccdc141
|
UTSW |
2 |
76,869,830 (GRCm39) |
missense |
probably benign |
0.31 |
R3112:Ccdc141
|
UTSW |
2 |
76,869,830 (GRCm39) |
missense |
probably benign |
0.31 |
R4334:Ccdc141
|
UTSW |
2 |
77,000,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R4493:Ccdc141
|
UTSW |
2 |
76,962,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R4494:Ccdc141
|
UTSW |
2 |
76,962,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R4628:Ccdc141
|
UTSW |
2 |
76,890,024 (GRCm39) |
missense |
probably benign |
0.02 |
R4748:Ccdc141
|
UTSW |
2 |
76,888,324 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4810:Ccdc141
|
UTSW |
2 |
76,876,099 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4824:Ccdc141
|
UTSW |
2 |
76,954,680 (GRCm39) |
missense |
probably damaging |
0.99 |
R4829:Ccdc141
|
UTSW |
2 |
76,905,260 (GRCm39) |
missense |
probably damaging |
0.99 |
R4920:Ccdc141
|
UTSW |
2 |
76,998,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R5024:Ccdc141
|
UTSW |
2 |
76,885,047 (GRCm39) |
missense |
probably benign |
0.17 |
R5073:Ccdc141
|
UTSW |
2 |
76,954,722 (GRCm39) |
splice site |
probably null |
|
R5251:Ccdc141
|
UTSW |
2 |
76,858,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5252:Ccdc141
|
UTSW |
2 |
76,962,593 (GRCm39) |
missense |
probably benign |
0.03 |
R5534:Ccdc141
|
UTSW |
2 |
76,888,241 (GRCm39) |
missense |
probably benign |
|
R5539:Ccdc141
|
UTSW |
2 |
76,845,437 (GRCm39) |
missense |
probably damaging |
0.98 |
R5551:Ccdc141
|
UTSW |
2 |
76,844,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R5784:Ccdc141
|
UTSW |
2 |
76,859,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5837:Ccdc141
|
UTSW |
2 |
76,938,781 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5850:Ccdc141
|
UTSW |
2 |
76,859,747 (GRCm39) |
missense |
probably damaging |
0.98 |
R6050:Ccdc141
|
UTSW |
2 |
76,842,075 (GRCm39) |
missense |
probably benign |
0.33 |
R6263:Ccdc141
|
UTSW |
2 |
76,938,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R6502:Ccdc141
|
UTSW |
2 |
77,000,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R6580:Ccdc141
|
UTSW |
2 |
76,842,099 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6865:Ccdc141
|
UTSW |
2 |
76,859,579 (GRCm39) |
critical splice donor site |
probably null |
|
R7014:Ccdc141
|
UTSW |
2 |
76,962,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R7094:Ccdc141
|
UTSW |
2 |
76,871,797 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7195:Ccdc141
|
UTSW |
2 |
76,879,927 (GRCm39) |
missense |
probably benign |
0.39 |
R7300:Ccdc141
|
UTSW |
2 |
76,845,038 (GRCm39) |
missense |
probably benign |
0.00 |
R7654:Ccdc141
|
UTSW |
2 |
76,872,822 (GRCm39) |
missense |
probably benign |
0.05 |
R7834:Ccdc141
|
UTSW |
2 |
76,889,889 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7868:Ccdc141
|
UTSW |
2 |
76,938,756 (GRCm39) |
missense |
probably damaging |
0.99 |
R7986:Ccdc141
|
UTSW |
2 |
76,845,461 (GRCm39) |
missense |
probably benign |
0.01 |
R8059:Ccdc141
|
UTSW |
2 |
76,875,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R8082:Ccdc141
|
UTSW |
2 |
76,954,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R8439:Ccdc141
|
UTSW |
2 |
76,889,894 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8508:Ccdc141
|
UTSW |
2 |
76,962,588 (GRCm39) |
missense |
probably benign |
0.01 |
R8695:Ccdc141
|
UTSW |
2 |
76,879,963 (GRCm39) |
missense |
probably benign |
0.03 |
R8880:Ccdc141
|
UTSW |
2 |
76,845,556 (GRCm39) |
missense |
probably benign |
0.28 |
R8992:Ccdc141
|
UTSW |
2 |
76,844,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R9048:Ccdc141
|
UTSW |
2 |
76,853,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R9260:Ccdc141
|
UTSW |
2 |
76,844,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R9297:Ccdc141
|
UTSW |
2 |
76,842,028 (GRCm39) |
missense |
probably benign |
0.34 |
R9418:Ccdc141
|
UTSW |
2 |
76,871,766 (GRCm39) |
missense |
probably benign |
0.05 |
R9601:Ccdc141
|
UTSW |
2 |
76,885,073 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9628:Ccdc141
|
UTSW |
2 |
76,844,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R9763:Ccdc141
|
UTSW |
2 |
76,869,919 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ccdc141
|
UTSW |
2 |
76,958,616 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Ccdc141
|
UTSW |
2 |
76,845,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |