Incidental Mutation 'R1659:Ccdc141'
| ID |
186571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc141
|
| Ensembl Gene |
ENSMUSG00000044033 |
| Gene Name |
coiled-coil domain containing 141 |
| Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
| MMRRC Submission |
039695-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76885027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 538
(L538P)
|
| 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: L538P
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: L538P
| 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: L538P
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: L538P
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,114,633 (GRCm39) |
L87Q |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,112,251 (GRCm39) |
D630A |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,060,420 (GRCm39) |
P568T |
probably damaging |
Het |
| Cd177 |
G |
T |
7: 24,445,562 (GRCm39) |
T627K |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,867,574 (GRCm39) |
I468N |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,999,571 (GRCm39) |
T338A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,411 (GRCm39) |
T467I |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,581 (GRCm39) |
E380G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,511,246 (GRCm39) |
T158N |
probably benign |
Het |
| Ddx51 |
T |
A |
5: 110,802,986 (GRCm39) |
I254N |
probably damaging |
Het |
| Deptor |
G |
A |
15: 55,081,670 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 118,084,459 (GRCm39) |
H1215L |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,972 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dok7 |
C |
T |
5: 35,236,483 (GRCm39) |
T257I |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,499,811 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,479 (GRCm39) |
T2508A |
possibly damaging |
Het |
| Gm266 |
A |
G |
12: 111,451,723 (GRCm39) |
V161A |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,707,979 (GRCm39) |
I107V |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,024,786 (GRCm39) |
F273L |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,112,610 (GRCm39) |
Q858L |
probably damaging |
Het |
| Hcrtr1 |
G |
T |
4: 130,029,129 (GRCm39) |
Y224* |
probably null |
Het |
| Hepacam |
A |
G |
9: 37,291,954 (GRCm39) |
D94G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,853 (GRCm39) |
H1432Q |
probably benign |
Het |
| Il20 |
T |
A |
1: 130,836,086 (GRCm39) |
|
probably null |
Het |
| Itga10 |
A |
G |
3: 96,570,293 (GRCm39) |
T1150A |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,730,063 (GRCm39) |
T73I |
probably benign |
Het |
| Kdm6b |
T |
A |
11: 69,298,414 (GRCm39) |
Q98L |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,867,045 (GRCm39) |
W899R |
probably damaging |
Het |
| Meikin |
C |
A |
11: 54,281,392 (GRCm39) |
S154* |
probably null |
Het |
| Mrgprg |
A |
T |
7: 143,318,288 (GRCm39) |
S275T |
possibly damaging |
Het |
| Mstn |
C |
T |
1: 53,103,236 (GRCm39) |
R191* |
probably null |
Het |
| Neu3 |
A |
G |
7: 99,462,640 (GRCm39) |
I361T |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,299,165 (GRCm39) |
D425G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,723 (GRCm39) |
M1688K |
probably benign |
Het |
| Omg |
C |
T |
11: 79,393,726 (GRCm39) |
C44Y |
possibly damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,759 (GRCm39) |
Q88L |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,387 (GRCm39) |
M158V |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,005,574 (GRCm39) |
D938G |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,822,406 (GRCm39) |
D220G |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,098,015 (GRCm39) |
T1173I |
possibly damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,384,981 (GRCm39) |
T359A |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,076,466 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rpl7a-ps3 |
A |
G |
15: 36,308,309 (GRCm39) |
|
noncoding transcript |
Het |
| Sars1 |
T |
C |
3: 108,336,732 (GRCm39) |
E217G |
probably damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,891,345 (GRCm39) |
F62S |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,938,790 (GRCm39) |
I189N |
probably damaging |
Het |
| Slc5a10 |
G |
A |
11: 61,567,070 (GRCm39) |
A375V |
possibly damaging |
Het |
| Srfbp1 |
C |
T |
18: 52,621,967 (GRCm39) |
H343Y |
possibly damaging |
Het |
| Tbck |
T |
G |
3: 132,440,116 (GRCm39) |
I486M |
probably damaging |
Het |
| Thra |
G |
A |
11: 98,647,805 (GRCm39) |
A60T |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,063 (GRCm39) |
T364S |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,652,547 (GRCm39) |
D761N |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,238,047 (GRCm39) |
L216P |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,703 (GRCm39) |
V156A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTGGCAGAGACAAACTCTCG -3'
(R):5'- ATGCGTCTACCTTAAGCACCAGAAC -3'
Sequencing Primer
(F):5'- GAGACAAACTCTCGCTCGG -3'
(R):5'- TTCAGCTTTGGACAGAGCC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation