Incidental Mutation 'R2019:Ccdc141'
ID |
223588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc141
|
Ensembl Gene |
ENSMUSG00000044033 |
Gene Name |
coiled-coil domain containing 141 |
Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
MMRRC Submission |
040028-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2019 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
76840246-77000980 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 76841909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 1507
(I1507M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049544]
[ENSMUST00000164114]
|
AlphaFold |
E9Q8Q6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049544
|
SMART Domains |
Protein: ENSMUSP00000052945 Gene: ENSMUSG00000044033
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: I1507M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128736 Gene: ENSMUSG00000044033 AA Change: I1507M
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: ENSMUST00000179868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180261
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (71/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
A |
10: 76,293,899 (GRCm39) |
F252L |
possibly damaging |
Het |
Abcc9 |
G |
A |
6: 142,621,160 (GRCm39) |
L527F |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,498,159 (GRCm39) |
T918A |
probably damaging |
Het |
Acp3 |
C |
T |
9: 104,201,901 (GRCm39) |
G81R |
probably damaging |
Het |
Acss3 |
C |
T |
10: 106,772,068 (GRCm39) |
S669N |
probably benign |
Het |
Akt1 |
T |
C |
12: 112,626,059 (GRCm39) |
N71S |
probably damaging |
Het |
Amz1 |
G |
T |
5: 140,737,719 (GRCm39) |
M326I |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,639,140 (GRCm39) |
I1351V |
probably benign |
Het |
Art2b |
T |
C |
7: 101,229,194 (GRCm39) |
D235G |
probably benign |
Het |
Dck |
A |
G |
5: 88,921,943 (GRCm39) |
Y135C |
probably damaging |
Het |
Dmbt1 |
T |
G |
7: 130,712,718 (GRCm39) |
I1563S |
possibly damaging |
Het |
Dnttip2 |
T |
C |
3: 122,074,393 (GRCm39) |
V610A |
possibly damaging |
Het |
Efhb |
A |
G |
17: 53,708,505 (GRCm39) |
S722P |
probably damaging |
Het |
Emx2 |
A |
G |
19: 59,447,771 (GRCm39) |
S42G |
probably benign |
Het |
Ermard |
C |
T |
17: 15,273,527 (GRCm39) |
R371C |
probably damaging |
Het |
Fat1 |
T |
G |
8: 45,476,783 (GRCm39) |
I1943S |
probably damaging |
Het |
Fignl1 |
T |
C |
11: 11,752,054 (GRCm39) |
K334E |
probably damaging |
Het |
Fmn1 |
A |
C |
2: 113,194,825 (GRCm39) |
K175T |
unknown |
Het |
Gm7247 |
A |
T |
14: 51,602,804 (GRCm39) |
M47L |
possibly damaging |
Het |
Gpalpp1 |
A |
T |
14: 76,348,131 (GRCm39) |
|
probably null |
Het |
Hc |
A |
C |
2: 34,903,540 (GRCm39) |
F1038C |
probably damaging |
Het |
Ifngr1 |
A |
T |
10: 19,467,861 (GRCm39) |
M10L |
probably damaging |
Het |
Irx5 |
T |
G |
8: 93,084,992 (GRCm39) |
Y61D |
probably damaging |
Het |
Itgax |
A |
G |
7: 127,747,698 (GRCm39) |
H1038R |
probably benign |
Het |
Jag1 |
C |
T |
2: 136,926,599 (GRCm39) |
E982K |
probably benign |
Het |
Klhdc9 |
T |
C |
1: 171,186,509 (GRCm39) |
D309G |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,519,961 (GRCm39) |
M74K |
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,059,759 (GRCm39) |
L685Q |
possibly damaging |
Het |
Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
Mgat5b |
A |
G |
11: 116,838,174 (GRCm39) |
Y271C |
probably benign |
Het |
Mtmr6 |
T |
C |
14: 60,536,441 (GRCm39) |
M557T |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,426,260 (GRCm39) |
L339P |
probably benign |
Het |
Neb |
G |
T |
2: 52,122,288 (GRCm39) |
Y580* |
probably null |
Het |
Npat |
A |
G |
9: 53,473,791 (GRCm39) |
K528E |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,418 (GRCm39) |
Y120F |
possibly damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,737 (GRCm39) |
V111A |
probably damaging |
Het |
Or5m3 |
A |
T |
2: 85,838,567 (GRCm39) |
Y149F |
probably damaging |
Het |
Parp8 |
G |
A |
13: 117,004,968 (GRCm39) |
|
probably benign |
Het |
Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
Phospho1 |
G |
A |
11: 95,721,932 (GRCm39) |
V201M |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,209,451 (GRCm39) |
F2371L |
probably benign |
Het |
Pitpnm1 |
T |
C |
19: 4,163,641 (GRCm39) |
S1209P |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,787,658 (GRCm39) |
C20* |
probably null |
Het |
Prdm5 |
C |
A |
6: 65,808,340 (GRCm39) |
N95K |
probably damaging |
Het |
Prkx |
T |
C |
X: 76,809,010 (GRCm39) |
D270G |
probably damaging |
Het |
Ptgis |
A |
G |
2: 167,050,199 (GRCm39) |
V310A |
probably damaging |
Het |
Ptgis |
G |
A |
2: 167,056,730 (GRCm39) |
Q286* |
probably null |
Het |
Rpf1 |
T |
A |
3: 146,226,976 (GRCm39) |
N59I |
probably damaging |
Het |
Rpl3l |
A |
C |
17: 24,954,490 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,866,074 (GRCm39) |
G292D |
possibly damaging |
Het |
Ryr3 |
G |
T |
2: 112,611,410 (GRCm39) |
N2257K |
probably benign |
Het |
Sla |
T |
C |
15: 66,654,404 (GRCm39) |
Y278C |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,064,725 (GRCm39) |
D193V |
probably damaging |
Het |
Spire2 |
T |
C |
8: 124,059,657 (GRCm39) |
C52R |
probably damaging |
Het |
Tada2b |
T |
C |
5: 36,641,250 (GRCm39) |
Y51C |
probably damaging |
Het |
Tarbp1 |
C |
T |
8: 127,154,853 (GRCm39) |
V1424I |
probably damaging |
Het |
Tbpl1 |
T |
A |
10: 22,583,576 (GRCm39) |
E131D |
probably damaging |
Het |
Tgfbrap1 |
A |
G |
1: 43,093,677 (GRCm39) |
|
probably null |
Het |
Tmem116 |
A |
G |
5: 121,627,317 (GRCm39) |
I151M |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,681,500 (GRCm39) |
D223G |
probably damaging |
Het |
Trim13 |
T |
A |
14: 61,842,335 (GRCm39) |
C117* |
probably null |
Het |
Ttn |
C |
G |
2: 76,585,676 (GRCm39) |
D21987H |
probably damaging |
Het |
Txnrd1 |
G |
A |
10: 82,713,207 (GRCm39) |
V90I |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,137,830 (GRCm39) |
|
probably null |
Het |
Upp1 |
A |
T |
11: 9,083,240 (GRCm39) |
M111L |
possibly damaging |
Het |
Vmn2r79 |
G |
T |
7: 86,651,634 (GRCm39) |
L344F |
probably benign |
Het |
Vps39 |
T |
C |
2: 120,173,708 (GRCm39) |
Y147C |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,193,425 (GRCm39) |
Y666H |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,497,613 (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 |
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 |
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'- TTTCACCTAGCAGTGGGATTAG -3'
(R):5'- AAGGGCCAGAAACTGTGTGC -3'
Sequencing Primer
(F):5'- TCACCTAGCAGTGGGATTAGTCAAAG -3'
(R):5'- CAGATGGACACTTACAGGTCTTGC -3'
|
Posted On |
2014-08-25 |