Incidental Mutation 'R8082:Ccdc141'
| ID |
629390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc141
|
| Ensembl Gene |
ENSMUSG00000044033 |
| Gene Name |
coiled-coil domain containing 141 |
| Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
| MMRRC Submission |
067515-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8082 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76954588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 220
(I220V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049544]
[ENSMUST00000164114]
|
| AlphaFold |
E9Q8Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049544
AA Change: I220V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: I220V
| 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: I220V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: I220V
| 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: 98.8%
- 20x: 94.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,188,895 (GRCm39) |
|
probably null |
Het |
| 4921524J17Rik |
G |
A |
8: 86,136,468 (GRCm39) |
A133V |
possibly damaging |
Het |
| AAdacl4fm3 |
A |
C |
4: 144,441,897 (GRCm39) |
F118C |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
| Ankrd34c |
C |
A |
9: 89,610,768 (GRCm39) |
K524N |
probably damaging |
Het |
| Bicd2 |
C |
T |
13: 49,532,529 (GRCm39) |
Q372* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,323,313 (GRCm39) |
M1002L |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,786 (GRCm39) |
Y86C |
possibly damaging |
Het |
| Cep152 |
T |
C |
2: 125,428,313 (GRCm39) |
T773A |
probably benign |
Het |
| Cgn |
A |
G |
3: 94,670,368 (GRCm39) |
F1029L |
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 100,306,941 (GRCm39) |
M515K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,661,129 (GRCm39) |
K327* |
probably null |
Het |
| Cspg4 |
A |
G |
9: 56,793,177 (GRCm39) |
Y304C |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Dync2i1 |
T |
A |
12: 116,177,127 (GRCm39) |
|
probably null |
Het |
| Ecpas |
G |
A |
4: 58,807,852 (GRCm39) |
A1672V |
probably benign |
Het |
| Emilin3 |
A |
C |
2: 160,750,066 (GRCm39) |
V561G |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,343,303 (GRCm39) |
D12V |
unknown |
Het |
| Fam83f |
T |
C |
15: 80,574,119 (GRCm39) |
V158A |
probably damaging |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,621 (GRCm39) |
R224G |
probably damaging |
Het |
| Gid4 |
A |
G |
11: 60,327,273 (GRCm39) |
K153E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hic2 |
A |
G |
16: 17,076,563 (GRCm39) |
H464R |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,987 (GRCm39) |
R602C |
probably damaging |
Het |
| Ints15 |
T |
C |
5: 143,297,607 (GRCm39) |
R147G |
probably benign |
Het |
| Izumo1r |
T |
A |
9: 14,805,373 (GRCm39) |
D171V |
unknown |
Het |
| Kel |
T |
A |
6: 41,680,424 (GRCm39) |
E12V |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,466 (GRCm39) |
S14P |
possibly damaging |
Het |
| Lars1 |
T |
A |
18: 42,377,975 (GRCm39) |
S147C |
probably damaging |
Het |
| Lgals1 |
C |
T |
15: 78,814,301 (GRCm39) |
A122V |
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,243,273 (GRCm39) |
H452Y |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,348,248 (GRCm39) |
I2816F |
unknown |
Het |
| Mcoln1 |
T |
A |
8: 3,557,420 (GRCm39) |
I142K |
probably benign |
Het |
| Met |
G |
A |
6: 17,492,312 (GRCm39) |
R358Q |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,504,103 (GRCm39) |
C1276S |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,253,771 (GRCm39) |
M264T |
probably benign |
Het |
| Mtfr2 |
C |
T |
10: 20,229,135 (GRCm39) |
T81M |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,182,793 (GRCm39) |
A811T |
possibly damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Ndufs3 |
T |
C |
2: 90,725,208 (GRCm39) |
D213G |
probably damaging |
Het |
| Or51k1 |
T |
A |
7: 103,661,897 (GRCm39) |
E4V |
probably benign |
Het |
| Or5ac20 |
T |
C |
16: 59,104,750 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or5g9 |
T |
C |
2: 85,551,824 (GRCm39) |
V25A |
probably benign |
Het |
| Or9g8 |
T |
A |
2: 85,607,044 (GRCm39) |
L39I |
probably benign |
Het |
| Otog |
C |
T |
7: 45,939,143 (GRCm39) |
R2058C |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,336,179 (GRCm39) |
K831M |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,957,652 (GRCm39) |
D569G |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,491,927 (GRCm39) |
L362P |
probably damaging |
Het |
| Rims2 |
G |
T |
15: 39,339,919 (GRCm39) |
R871L |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,027,555 (GRCm39) |
I54N |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,548 (GRCm39) |
D263G |
possibly damaging |
Het |
| Slc43a1 |
C |
T |
2: 84,687,244 (GRCm39) |
R382C |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,353,527 (GRCm39) |
R193G |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,816,579 (GRCm39) |
K484N |
probably benign |
Het |
| Sry |
T |
A |
Y: 2,662,589 (GRCm39) |
Q357L |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,789 (GRCm39) |
D135V |
possibly damaging |
Het |
| Tekt3 |
T |
G |
11: 62,961,056 (GRCm39) |
V75G |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,351 (GRCm39) |
L198P |
probably damaging |
Het |
| Tuba1a |
C |
T |
15: 98,848,742 (GRCm39) |
V177I |
probably benign |
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 |
|
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 |
|
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'- CAACTGGCCAAGACTGAGAC -3'
(R):5'- TGCAATGCCGCATATCATTAG -3'
Sequencing Primer
(F):5'- AGACTGAGACTTCACCTGATGTC -3'
(R):5'- CAATTGCACAGAGGCTCCTTATTAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation