Incidental Mutation 'R6263:Ccdc141'
ID |
506796 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc141
|
Ensembl Gene |
ENSMUSG00000044033 |
Gene Name |
coiled-coil domain containing 141 |
Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
MMRRC Submission |
044437-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6263 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76938807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 266
(Q266R)
|
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 damaging
Transcript: ENSMUST00000049544
AA Change: Q266R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052945 Gene: ENSMUSG00000044033 AA Change: Q266R
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 |
noncoding transcript
Transcript: ENSMUST00000131660
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164114
AA Change: Q266R
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000128736 Gene: ENSMUSG00000044033 AA Change: Q266R
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (66/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,995,641 (GRCm39) |
I5642V |
probably benign |
Het |
Atp5f1a |
A |
G |
18: 77,866,930 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
A |
3: 36,985,260 (GRCm39) |
N863K |
probably benign |
Het |
Bsn |
A |
T |
9: 107,990,453 (GRCm39) |
F1766L |
probably damaging |
Het |
Cdh10 |
T |
A |
15: 18,964,154 (GRCm39) |
D105E |
possibly damaging |
Het |
Clca3a1 |
T |
A |
3: 144,455,539 (GRCm39) |
D418V |
probably damaging |
Het |
Cnnm2 |
C |
A |
19: 46,845,344 (GRCm39) |
T612K |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,360,735 (GRCm39) |
V55A |
unknown |
Het |
Cpd |
A |
C |
11: 76,737,097 (GRCm39) |
D232E |
probably benign |
Het |
Csde1 |
A |
G |
3: 102,947,333 (GRCm39) |
H95R |
probably benign |
Het |
Ctcfl |
T |
A |
2: 172,937,130 (GRCm39) |
H596L |
probably benign |
Het |
Cwc22 |
T |
C |
2: 77,726,515 (GRCm39) |
R855G |
possibly damaging |
Het |
Cwc25 |
A |
G |
11: 97,644,053 (GRCm39) |
Y227H |
probably damaging |
Het |
Cyp2c38 |
G |
A |
19: 39,380,659 (GRCm39) |
P409S |
probably damaging |
Het |
Ddx5 |
A |
G |
11: 106,679,139 (GRCm39) |
S2P |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,348,238 (GRCm39) |
G2570W |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,174,292 (GRCm39) |
V528E |
probably damaging |
Het |
Efcab3 |
G |
A |
11: 104,810,312 (GRCm39) |
D3150N |
unknown |
Het |
Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
C |
A |
7: 35,002,848 (GRCm39) |
D221Y |
probably damaging |
Het |
Ino80 |
T |
C |
2: 119,213,895 (GRCm39) |
Y1225C |
probably damaging |
Het |
Itga7 |
T |
A |
10: 128,779,955 (GRCm39) |
D501E |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,243 (GRCm39) |
S743P |
possibly damaging |
Het |
Lilra5 |
A |
T |
7: 4,241,360 (GRCm39) |
Y99F |
probably damaging |
Het |
Lmna |
A |
G |
3: 88,410,265 (GRCm39) |
V49A |
probably damaging |
Het |
Lrrc72 |
G |
A |
12: 36,258,603 (GRCm39) |
R267* |
probably null |
Het |
Mapkbp1 |
T |
C |
2: 119,853,772 (GRCm39) |
S1199P |
probably damaging |
Het |
Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
Myh10 |
A |
T |
11: 68,701,058 (GRCm39) |
N1756Y |
probably damaging |
Het |
Nfe2 |
A |
G |
15: 103,159,378 (GRCm39) |
I31T |
probably damaging |
Het |
Nfe2l1 |
A |
T |
11: 96,708,570 (GRCm39) |
F732I |
probably benign |
Het |
Or4a39 |
C |
G |
2: 89,237,074 (GRCm39) |
M116I |
possibly damaging |
Het |
Or4c12b |
T |
A |
2: 89,647,104 (GRCm39) |
C145S |
probably damaging |
Het |
Or52e19b |
C |
A |
7: 103,032,403 (GRCm39) |
V269F |
possibly damaging |
Het |
Pax6 |
T |
C |
2: 105,523,199 (GRCm39) |
|
probably null |
Het |
Phb1 |
A |
G |
11: 95,568,941 (GRCm39) |
E192G |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,309,650 (GRCm39) |
|
probably null |
Het |
Plxnb2 |
A |
T |
15: 89,046,189 (GRCm39) |
V942E |
probably damaging |
Het |
Potegl |
T |
A |
2: 23,156,745 (GRCm39) |
|
probably benign |
Het |
Rsrc2 |
G |
A |
5: 123,877,751 (GRCm39) |
|
probably benign |
Het |
Septin8 |
G |
A |
11: 53,439,210 (GRCm39) |
C460Y |
probably benign |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc16a7 |
A |
G |
10: 125,130,508 (GRCm39) |
I59T |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,065,365 (GRCm39) |
I172N |
possibly damaging |
Het |
Smg5 |
A |
T |
3: 88,249,208 (GRCm39) |
N40Y |
possibly damaging |
Het |
Smurf1 |
A |
G |
5: 144,818,541 (GRCm39) |
V633A |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,937,324 (GRCm39) |
V22A |
probably damaging |
Het |
Sox6 |
A |
T |
7: 115,076,295 (GRCm39) |
M741K |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,873,797 (GRCm39) |
Q1246R |
probably benign |
Het |
Sval1 |
A |
G |
6: 41,928,660 (GRCm39) |
E24G |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,867 (GRCm39) |
I59V |
probably benign |
Het |
Tmem151b |
T |
A |
17: 45,857,992 (GRCm39) |
T85S |
probably benign |
Het |
Tpr |
T |
A |
1: 150,317,996 (GRCm39) |
|
probably null |
Het |
Trpm6 |
A |
C |
19: 18,831,472 (GRCm39) |
T1446P |
possibly damaging |
Het |
Tsc22d4 |
A |
T |
5: 137,766,441 (GRCm39) |
K502N |
possibly damaging |
Het |
Tssk3 |
C |
T |
4: 129,383,051 (GRCm39) |
S207N |
probably benign |
Het |
Ttbk1 |
G |
T |
17: 46,778,188 (GRCm39) |
P618Q |
probably damaging |
Het |
Ttll6 |
A |
T |
11: 96,047,371 (GRCm39) |
M657L |
probably benign |
Het |
Ubash3a |
T |
A |
17: 31,434,069 (GRCm39) |
I138N |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,090,839 (GRCm39) |
Y490C |
probably damaging |
Het |
Vmn1r82 |
G |
T |
7: 12,039,461 (GRCm39) |
V127F |
probably damaging |
Het |
Vmn2r32 |
A |
T |
7: 7,479,691 (GRCm39) |
S161T |
possibly damaging |
Het |
Wdr49 |
T |
C |
3: 75,388,824 (GRCm39) |
I58M |
possibly damaging |
Het |
Wiz |
A |
T |
17: 32,579,417 (GRCm39) |
|
probably null |
Het |
Wrap53 |
A |
T |
11: 69,453,619 (GRCm39) |
Y324* |
probably null |
Het |
Zfp747 |
A |
C |
7: 126,975,138 (GRCm39) |
|
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,905,702 (GRCm39) |
Y33C |
probably 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 |
IGL02740:Ccdc141
|
APN |
2 |
76,884,953 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGCTCTAGTGATCATTTCTATGC -3'
(R):5'- TTGCCCTTAAGCATTGAGAGG -3'
Sequencing Primer
(F):5'- TGCAATCTGTAAATGACTCAGCC -3'
(R):5'- TTAAGCATTGAGAGGCTGAAATAAAG -3'
|
Posted On |
2018-03-15 |