Incidental Mutation 'R5837:Ccdc141'
ID |
449628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc141
|
Ensembl Gene |
ENSMUSG00000044033 |
Gene Name |
coiled-coil domain containing 141 |
Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
MMRRC Submission |
044057-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5837 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 76938781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 275
(Q275K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049544]
[ENSMUST00000164114]
|
AlphaFold |
E9Q8Q6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028406
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049544
AA Change: Q275K
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000052945 Gene: ENSMUSG00000044033 AA Change: Q275K
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 |
possibly damaging
Transcript: ENSMUST00000164114
AA Change: Q275K
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128736 Gene: ENSMUSG00000044033 AA Change: Q275K
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 |
|
Meta Mutation Damage Score |
0.0752 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
99% (72/73) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,594,806 (GRCm39) |
N605D |
probably damaging |
Het |
Apob |
A |
G |
12: 8,053,277 (GRCm39) |
M1240V |
probably benign |
Het |
Atf1 |
T |
A |
15: 100,152,265 (GRCm39) |
I86N |
probably damaging |
Het |
Best1 |
T |
A |
19: 9,966,483 (GRCm39) |
|
probably null |
Het |
Bet1l |
C |
A |
7: 140,434,694 (GRCm39) |
R51L |
probably benign |
Het |
Bpifa5 |
A |
G |
2: 154,005,598 (GRCm39) |
Y60C |
probably damaging |
Het |
Cep295 |
T |
A |
9: 15,258,280 (GRCm39) |
H241L |
probably damaging |
Het |
Commd7 |
A |
G |
2: 153,471,144 (GRCm39) |
V36A |
possibly damaging |
Het |
Cyld |
G |
A |
8: 89,468,032 (GRCm39) |
S555N |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,959,919 (GRCm39) |
I79N |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,416,515 (GRCm39) |
S562P |
probably damaging |
Het |
Dnajc13 |
T |
A |
9: 104,053,865 (GRCm39) |
I1664F |
possibly damaging |
Het |
Ehmt1 |
A |
G |
2: 24,753,926 (GRCm39) |
V277A |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,221,054 (GRCm39) |
|
probably null |
Het |
Galnt6 |
G |
A |
15: 100,592,527 (GRCm39) |
T560M |
possibly damaging |
Het |
Glra1 |
G |
T |
11: 55,427,333 (GRCm39) |
|
probably null |
Het |
Gm10762 |
C |
T |
2: 128,809,077 (GRCm39) |
|
probably benign |
Het |
Greb1 |
C |
T |
12: 16,738,586 (GRCm39) |
R1459H |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,308,514 (GRCm39) |
K1048E |
probably damaging |
Het |
Ilk |
T |
C |
7: 105,390,378 (GRCm39) |
|
probably null |
Het |
Lgi4 |
C |
T |
7: 30,770,208 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,374,105 (GRCm39) |
T59A |
possibly damaging |
Het |
Lzic |
G |
T |
4: 149,570,457 (GRCm39) |
|
probably null |
Het |
Mef2d |
A |
G |
3: 88,069,088 (GRCm39) |
T286A |
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,361,839 (GRCm39) |
C4447F |
probably damaging |
Het |
Ncoa2 |
A |
G |
1: 13,294,930 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
T |
C |
19: 46,071,622 (GRCm39) |
|
probably benign |
Het |
Npl |
T |
C |
1: 153,379,271 (GRCm39) |
T271A |
probably benign |
Het |
Nudt1 |
A |
G |
5: 140,320,295 (GRCm39) |
R25G |
probably damaging |
Het |
Nudt19 |
T |
C |
7: 35,251,061 (GRCm39) |
E226G |
possibly damaging |
Het |
Oc90 |
T |
C |
15: 65,748,295 (GRCm39) |
D405G |
probably benign |
Het |
Or10q1b |
T |
A |
19: 13,682,324 (GRCm39) |
C44* |
probably null |
Het |
Or1e1c |
A |
G |
11: 73,266,474 (GRCm39) |
M300V |
probably benign |
Het |
Or5as1 |
A |
T |
2: 86,980,699 (GRCm39) |
F102Y |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,266 (GRCm39) |
L161H |
probably damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,398,880 (GRCm39) |
I277T |
possibly damaging |
Het |
Pcdhb9 |
C |
A |
18: 37,535,851 (GRCm39) |
A615E |
probably damaging |
Het |
Phrf1 |
C |
G |
7: 140,839,974 (GRCm39) |
D1056E |
probably benign |
Het |
Phyhip |
C |
A |
14: 70,704,450 (GRCm39) |
A223E |
probably damaging |
Het |
Polr2h |
T |
A |
16: 20,536,682 (GRCm39) |
I4N |
probably damaging |
Het |
Ppp1r12c |
C |
A |
7: 4,500,403 (GRCm39) |
|
probably benign |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Psg17 |
T |
A |
7: 18,554,140 (GRCm39) |
T37S |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,001,417 (GRCm39) |
V1169A |
probably benign |
Het |
Rabgap1l |
T |
C |
1: 160,134,792 (GRCm39) |
|
probably benign |
Het |
Rapgef3 |
C |
T |
15: 97,655,223 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
Robo3 |
T |
A |
9: 37,341,112 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
C |
T |
1: 96,746,707 (GRCm39) |
E712K |
probably benign |
Het |
Ssh3 |
T |
C |
19: 4,316,428 (GRCm39) |
T168A |
probably benign |
Het |
Stoml2 |
G |
T |
4: 43,028,989 (GRCm39) |
N248K |
probably damaging |
Het |
Tmigd1 |
A |
G |
11: 76,806,911 (GRCm39) |
|
probably benign |
Het |
Tnc |
T |
A |
4: 63,931,451 (GRCm39) |
D753V |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,722,202 (GRCm39) |
|
probably benign |
Het |
Treml1 |
A |
G |
17: 48,667,180 (GRCm39) |
S22G |
possibly damaging |
Het |
Trmt2a |
C |
T |
16: 18,067,326 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,547,718 (GRCm39) |
T32151A |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,800,701 (GRCm39) |
F373Y |
probably damaging |
Het |
Vmn1r67 |
T |
C |
7: 10,180,949 (GRCm39) |
I10T |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,606,054 (GRCm39) |
F322S |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,360,300 (GRCm39) |
D35G |
probably benign |
Het |
Zfp365 |
A |
T |
10: 67,724,870 (GRCm39) |
H339Q |
probably damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,648 (GRCm39) |
H235L |
probably damaging |
Het |
Zpbp2 |
G |
A |
11: 98,442,097 (GRCm39) |
|
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 |
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'- AACGCTCTAGTGATCATTTCTATGC -3'
(R):5'- TTGCCCTTAAGCATTGAGAGG -3'
Sequencing Primer
(F):5'- TGCAATCTGTAAATGACTCAGCC -3'
(R):5'- AGAGAACATTAAATGCCTAGATGATG -3'
|
Posted On |
2016-12-20 |