Incidental Mutation 'R7868:Ccdc141'
ID |
607892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc141
|
Ensembl Gene |
ENSMUSG00000044033 |
Gene Name |
coiled-coil domain containing 141 |
Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
MMRRC Submission |
045920-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7868 (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 76938756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 283
(D283G)
|
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: D283G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000052945 Gene: ENSMUSG00000044033 AA Change: D283G
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 |
possibly damaging
Transcript: ENSMUST00000164114
AA Change: D283G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128736 Gene: ENSMUSG00000044033 AA Change: D283G
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,257 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
G |
5: 114,386,288 (GRCm39) |
E2274G |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,770,090 (GRCm39) |
I21T |
possibly damaging |
Het |
Aldh3b3 |
C |
T |
19: 4,018,492 (GRCm39) |
R57* |
probably null |
Het |
Arhgap22 |
T |
C |
14: 33,086,473 (GRCm39) |
|
probably benign |
Het |
B4galt5 |
G |
T |
2: 167,143,340 (GRCm39) |
Y361* |
probably null |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
Bsn |
G |
T |
9: 107,992,098 (GRCm39) |
A1218D |
possibly damaging |
Het |
Ccdc33 |
T |
A |
9: 57,976,374 (GRCm39) |
I547F |
probably benign |
Het |
Chdh |
A |
G |
14: 29,753,288 (GRCm39) |
N66D |
probably benign |
Het |
Ckap2l |
T |
A |
2: 129,127,209 (GRCm39) |
Q323L |
probably damaging |
Het |
Cpvl |
T |
A |
6: 53,951,745 (GRCm39) |
I13F |
possibly damaging |
Het |
Creb3l2 |
G |
A |
6: 37,312,804 (GRCm39) |
P410L |
probably damaging |
Het |
Dna2 |
T |
C |
10: 62,805,643 (GRCm39) |
V960A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,384,037 (GRCm39) |
|
probably null |
Het |
Dpysl5 |
A |
T |
5: 30,902,760 (GRCm39) |
D64V |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,091,081 (GRCm39) |
Q1041R |
probably benign |
Het |
Efcab7 |
T |
C |
4: 99,746,154 (GRCm39) |
V242A |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,096,542 (GRCm39) |
R341* |
probably null |
Het |
Eif1ad8 |
G |
T |
12: 87,563,388 (GRCm39) |
|
probably benign |
Het |
Fbxo32 |
A |
T |
15: 58,077,986 (GRCm39) |
W8R |
probably damaging |
Het |
Fpgs |
T |
C |
2: 32,573,472 (GRCm39) |
N455D |
probably damaging |
Het |
Fsip1 |
G |
A |
2: 117,966,967 (GRCm39) |
Q453* |
probably null |
Het |
Gm8257 |
T |
A |
14: 44,894,754 (GRCm39) |
E12V |
probably damaging |
Het |
Kdm3a |
A |
T |
6: 71,572,473 (GRCm39) |
D1029E |
probably benign |
Het |
Lipo4 |
T |
G |
19: 33,488,968 (GRCm39) |
Q205P |
possibly damaging |
Het |
Lpar6 |
A |
T |
14: 73,476,435 (GRCm39) |
N132I |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,339,246 (GRCm39) |
G866S |
|
Het |
Man2c1 |
T |
C |
9: 57,045,270 (GRCm39) |
F460L |
probably damaging |
Het |
Map3k7cl |
T |
C |
16: 87,378,100 (GRCm39) |
V72A |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,699,387 (GRCm39) |
|
probably null |
Het |
Matn1 |
A |
G |
4: 130,682,311 (GRCm39) |
E496G |
probably damaging |
Het |
Mfsd2a |
A |
T |
4: 122,850,648 (GRCm39) |
V76E |
possibly damaging |
Het |
Mmut |
C |
T |
17: 41,257,934 (GRCm39) |
R367C |
probably damaging |
Het |
Mtpap |
A |
G |
18: 4,380,673 (GRCm39) |
E117G |
probably damaging |
Het |
Muc17 |
T |
A |
5: 137,175,625 (GRCm39) |
N15I |
|
Het |
Ndufa10 |
A |
G |
1: 92,388,169 (GRCm39) |
Y275H |
probably damaging |
Het |
Nlrc4 |
A |
T |
17: 74,755,047 (GRCm39) |
H56Q |
possibly damaging |
Het |
Nrde2 |
G |
A |
12: 100,097,446 (GRCm39) |
R785C |
possibly damaging |
Het |
Nsun4 |
C |
A |
4: 115,891,329 (GRCm39) |
C350F |
probably benign |
Het |
Or10x1 |
A |
G |
1: 174,196,551 (GRCm39) |
T23A |
probably benign |
Het |
Or51f23b |
A |
G |
7: 102,402,812 (GRCm39) |
L108P |
possibly damaging |
Het |
Or8g2 |
T |
A |
9: 39,821,282 (GRCm39) |
F61Y |
probably benign |
Het |
Or9s14 |
G |
A |
1: 92,536,237 (GRCm39) |
G226D |
possibly damaging |
Het |
Pdcd7 |
T |
A |
9: 65,254,261 (GRCm39) |
C280S |
probably damaging |
Het |
Peak1 |
G |
T |
9: 56,167,754 (GRCm39) |
T58K |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,108,353 (GRCm39) |
E573G |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,154 (GRCm39) |
H138R |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 23,000,963 (GRCm39) |
A1018T |
not run |
Het |
Ralgapa1 |
G |
T |
12: 55,659,423 (GRCm39) |
D2032E |
probably benign |
Het |
Rapgef4 |
T |
A |
2: 72,031,481 (GRCm39) |
N488K |
probably benign |
Het |
Slc1a2 |
A |
G |
2: 102,591,530 (GRCm39) |
D420G |
probably benign |
Het |
Smyd5 |
T |
A |
6: 85,421,297 (GRCm39) |
L337Q |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,555,587 (GRCm39) |
R2764H |
possibly damaging |
Het |
Tex35 |
A |
T |
1: 156,926,908 (GRCm39) |
Y195* |
probably null |
Het |
Tln2 |
T |
C |
9: 67,255,508 (GRCm39) |
K690E |
probably damaging |
Het |
Trpc4 |
A |
G |
3: 54,209,707 (GRCm39) |
T691A |
probably benign |
Het |
Tsr1 |
T |
A |
11: 74,791,158 (GRCm39) |
F246I |
possibly damaging |
Het |
Ttn |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
2: 76,746,150 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,187,344 (GRCm39) |
Y669F |
unknown |
Het |
Uox |
A |
C |
3: 146,316,029 (GRCm39) |
D12A |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
probably null |
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 |
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'- TAGCAGTTAATGGGCAGTGGC -3'
(R):5'- TGCCCTTAAGCATTGAGAGG -3'
Sequencing Primer
(F):5'- TAATGGGCAGTGGCGTTCCC -3'
(R):5'- CGTATGTAGAAAGAGATCGAATTGC -3'
|
Posted On |
2019-12-20 |