Incidental Mutation 'R2158:Ccdc141'
| ID |
234968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc141
|
| Ensembl Gene |
ENSMUSG00000044033 |
| Gene Name |
coiled-coil domain containing 141 |
| Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
| MMRRC Submission |
040161-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76861015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 921
(N921Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049544]
[ENSMUST00000164114]
|
| AlphaFold |
E9Q8Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049544
AA Change: N921Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: N921Y
| 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: ENSMUST00000154013
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164114
AA Change: N921Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: N921Y
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175840
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000179467
AA Change: N146Y
|
| Meta Mutation Damage Score |
0.2485 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,766,608 (GRCm39) |
V65A |
possibly damaging |
Het |
| 4930402F06Rik |
A |
T |
2: 35,275,680 (GRCm39) |
S38T |
possibly damaging |
Het |
| Adam4 |
A |
G |
12: 81,468,537 (GRCm39) |
L28S |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,407,709 (GRCm39) |
F198I |
probably damaging |
Het |
| Akap7 |
A |
G |
10: 25,047,062 (GRCm39) |
V45A |
probably damaging |
Het |
| Amotl1 |
G |
T |
9: 14,486,465 (GRCm39) |
N476K |
probably benign |
Het |
| Apcs |
A |
G |
1: 172,722,100 (GRCm39) |
L82P |
probably damaging |
Het |
| Armc3 |
C |
A |
2: 19,253,444 (GRCm39) |
P195Q |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,322,491 (GRCm39) |
L36Q |
unknown |
Het |
| Atad2 |
A |
T |
15: 57,961,962 (GRCm39) |
S870T |
possibly damaging |
Het |
| Bmp10 |
A |
T |
6: 87,411,062 (GRCm39) |
D285V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,128 (GRCm39) |
V972A |
probably benign |
Het |
| Cntnap5b |
A |
T |
1: 100,318,297 (GRCm39) |
D1019V |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,810,205 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,195 (GRCm39) |
Y360H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,450 (GRCm39) |
|
probably benign |
Het |
| Fn3k |
A |
T |
11: 121,339,712 (GRCm39) |
N158I |
probably damaging |
Het |
| Galnt17 |
C |
T |
5: 130,935,540 (GRCm39) |
R381Q |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,335,227 (GRCm39) |
K180N |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,854 (GRCm39) |
L571P |
probably damaging |
Het |
| Hormad2 |
T |
A |
11: 4,374,808 (GRCm39) |
K69* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,915 (GRCm39) |
D880V |
probably damaging |
Het |
| Ido2 |
T |
A |
8: 25,030,652 (GRCm39) |
D226V |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,961 (GRCm39) |
F159S |
probably damaging |
Het |
| Itgb1bp1 |
T |
C |
12: 21,326,860 (GRCm39) |
T38A |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,062 (GRCm39) |
I749V |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,769,567 (GRCm39) |
M2811L |
probably benign |
Het |
| Lysmd3 |
A |
G |
13: 81,817,737 (GRCm39) |
Y238C |
probably damaging |
Het |
| Mapk11 |
G |
A |
15: 89,030,575 (GRCm39) |
T106M |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,736,155 (GRCm39) |
V358I |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,563 (GRCm38) |
T1479I |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,371,592 (GRCm39) |
V578A |
possibly damaging |
Het |
| Nek10 |
T |
G |
14: 14,885,047 (GRCm38) |
|
probably null |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,768 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or51a24 |
T |
G |
7: 103,734,033 (GRCm39) |
T85P |
probably benign |
Het |
| Or51v14 |
G |
C |
7: 103,261,443 (GRCm39) |
T39R |
possibly damaging |
Het |
| Or52a5b |
G |
T |
7: 103,417,168 (GRCm39) |
C145* |
probably null |
Het |
| Or8d23 |
T |
C |
9: 38,841,875 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,664,937 (GRCm39) |
C333S |
probably benign |
Het |
| Pglyrp2 |
T |
A |
17: 32,637,222 (GRCm39) |
I269F |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,628,655 (GRCm39) |
V536A |
probably benign |
Het |
| Popdc2 |
T |
A |
16: 38,183,188 (GRCm39) |
L57Q |
probably damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,885 (GRCm39) |
R19G |
possibly damaging |
Het |
| Riox1 |
A |
G |
12: 83,997,709 (GRCm39) |
K82E |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,630,647 (GRCm39) |
V388M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,494,444 (GRCm39) |
S814P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,056,824 (GRCm39) |
H1859L |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,343 (GRCm39) |
I1562V |
probably benign |
Het |
| Taar5 |
T |
A |
10: 23,846,986 (GRCm39) |
I128N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,325,483 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
T |
13: 89,851,648 (GRCm39) |
M1104K |
possibly damaging |
Het |
| Vnn1 |
C |
T |
10: 23,776,653 (GRCm39) |
Q335* |
probably null |
Het |
| Zic1 |
T |
C |
9: 91,246,946 (GRCm39) |
D42G |
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 |
|
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 |
|
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'- CTGGACTGCAGTTACTTTGCAC -3'
(R):5'- CCAATGGGATAGTTTGTAACTGTACTC -3'
Sequencing Primer
(F):5'- GGACTGCAGTTACTTTGCACAAATTG -3'
(R):5'- ACTGTCATTGAAAGATGAATGTCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation