Incidental Mutation 'R8059:Ccdc141'
| ID |
619580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc141
|
| Ensembl Gene |
ENSMUSG00000044033 |
| Gene Name |
coiled-coil domain containing 141 |
| Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
| MMRRC Submission |
067894-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76875095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 705
(L705R)
|
| 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: L705R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: L705R
| 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 damaging
Transcript: ENSMUST00000164114
AA Change: L705R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: L705R
| 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 |
probably benign
Transcript: ENSMUST00000179467
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,279 (GRCm39) |
M3372K |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 105,100,948 (GRCm39) |
|
probably null |
Het |
| Adam19 |
G |
A |
11: 46,027,293 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
G |
T |
10: 14,344,794 (GRCm39) |
T53K |
probably damaging |
Het |
| Cep78 |
A |
T |
19: 15,958,876 (GRCm39) |
V156E |
probably benign |
Het |
| Cers2 |
A |
G |
3: 95,229,982 (GRCm39) |
D342G |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,651,948 (GRCm39) |
I272N |
probably damaging |
Het |
| Defb30 |
A |
G |
14: 63,273,383 (GRCm39) |
*77Q |
probably null |
Het |
| Dnai3 |
C |
G |
3: 145,752,428 (GRCm39) |
R749S |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,911,708 (GRCm39) |
V63A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Entpd2 |
G |
T |
2: 25,288,096 (GRCm39) |
V107L |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,161 (GRCm39) |
H799L |
possibly damaging |
Het |
| Hira |
T |
C |
16: 18,730,901 (GRCm39) |
V200A |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,120,883 (GRCm39) |
K269E |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,369,003 (GRCm39) |
S326G |
probably benign |
Het |
| Kctd19 |
T |
G |
8: 106,122,983 (GRCm39) |
I144L |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,842,057 (GRCm39) |
I36T |
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,504,216 (GRCm39) |
T34A |
probably benign |
Het |
| Maco1 |
A |
T |
4: 134,555,359 (GRCm39) |
C371* |
probably null |
Het |
| Maml3 |
A |
G |
3: 51,764,110 (GRCm39) |
S285P |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,973,504 (GRCm39) |
Y492H |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 103,114,478 (GRCm39) |
N303K |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,345,481 (GRCm39) |
R163C |
probably damaging |
Het |
| Mtmr7 |
C |
T |
8: 41,034,564 (GRCm39) |
A253T |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,876,372 (GRCm39) |
P468L |
unknown |
Het |
| Nckap1l |
T |
C |
15: 103,401,714 (GRCm39) |
S1084P |
possibly damaging |
Het |
| Nek11 |
T |
C |
9: 105,040,173 (GRCm39) |
*629W |
probably null |
Het |
| Nfkb1 |
C |
T |
3: 135,299,613 (GRCm39) |
A731T |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,775 (GRCm39) |
V442A |
probably damaging |
Het |
| Oaz2 |
C |
T |
9: 65,596,425 (GRCm39) |
P163L |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,223 (GRCm39) |
T231A |
probably benign |
Het |
| Or6d14 |
C |
T |
6: 116,533,434 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,306 (GRCm39) |
V140A |
probably benign |
Het |
| Pabpc2 |
A |
T |
18: 39,907,875 (GRCm39) |
N380I |
probably benign |
Het |
| Pax3 |
T |
C |
1: 78,080,003 (GRCm39) |
D461G |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,731,300 (GRCm39) |
R1443L |
unknown |
Het |
| Per1 |
G |
A |
11: 68,997,309 (GRCm39) |
R828H |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,622,189 (GRCm39) |
S144T |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,012,941 (GRCm39) |
I207N |
probably damaging |
Het |
| Psmc6 |
A |
T |
14: 45,578,260 (GRCm39) |
I208F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,719,491 (GRCm39) |
S2494P |
probably damaging |
Het |
| Rgs3 |
T |
C |
4: 62,521,214 (GRCm39) |
|
probably benign |
Het |
| Rtraf |
T |
C |
14: 19,872,631 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,294,792 (GRCm39) |
N166K |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,272,572 (GRCm39) |
T348S |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,532,347 (GRCm39) |
A39S |
probably benign |
Het |
| Slc8a3 |
C |
T |
12: 81,249,032 (GRCm39) |
G799S |
probably damaging |
Het |
| Sp1 |
T |
G |
15: 102,316,337 (GRCm39) |
S46R |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,045,936 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
G |
A |
14: 30,882,198 (GRCm39) |
P499L |
probably benign |
Het |
| Trav21-dv12 |
C |
A |
14: 54,114,178 (GRCm39) |
D99E |
probably damaging |
Het |
| Trpv6 |
T |
G |
6: 41,601,520 (GRCm39) |
I467L |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,548,842 (GRCm39) |
Y12C |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,698 (GRCm39) |
N84S |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,696,690 (GRCm39) |
F480S |
probably benign |
Het |
| Zc3h13 |
C |
G |
14: 75,565,250 (GRCm39) |
R788G |
unknown |
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 |
|
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'- ACAGGACATGGTATGGCTTAAATG -3'
(R):5'- TGTGACCTCCCTGGAAAGGATC -3'
Sequencing Primer
(F):5'- ATGGCTTAAATGTTTGGGTATCATC -3'
(R):5'- CTCCCTGGAAAGGATCAGTGTTTAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation