Incidental Mutation 'R7195:Ccdc141'
| ID |
559832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc141
|
| Ensembl Gene |
ENSMUSG00000044033 |
| Gene Name |
coiled-coil domain containing 141 |
| Synonyms |
ENSMUSG00000075261, CAMDI, 2610301F02Rik |
| MMRRC Submission |
045336-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7195 (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 G
at 76879927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 632
(N632T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049544]
[ENSMUST00000164114]
|
| AlphaFold |
E9Q8Q6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049544
AA Change: N632T
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: N632T
| 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: N632T
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: N632T
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
C |
11: 58,179,242 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,069 (GRCm39) |
K131* |
probably null |
Het |
| Adam39 |
A |
T |
8: 41,277,812 (GRCm39) |
R68* |
probably null |
Het |
| Akap7 |
A |
T |
10: 25,147,405 (GRCm39) |
N108K |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,338,721 (GRCm39) |
A14S |
probably benign |
Het |
| Ccm2 |
T |
C |
11: 6,546,302 (GRCm39) |
S435P |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 18,019,187 (GRCm39) |
L178P |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,075 (GRCm39) |
I59V |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,135,204 (GRCm39) |
S32T |
probably benign |
Het |
| Cep19 |
A |
G |
16: 31,925,904 (GRCm39) |
D104G |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,510,753 (GRCm39) |
P68S |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,649,024 (GRCm39) |
H1011R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,504,463 (GRCm39) |
D1864V |
|
Het |
| D7Ertd443e |
A |
G |
7: 133,896,851 (GRCm39) |
V513A |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,818,162 (GRCm39) |
P228L |
probably damaging |
Het |
| Fam243 |
C |
T |
16: 92,118,037 (GRCm39) |
V84M |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,131 (GRCm39) |
R97G |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,540,386 (GRCm39) |
V768M |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,288,050 (GRCm39) |
N96Y |
probably damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,622 (GRCm39) |
Y330N |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,424,203 (GRCm39) |
N683S |
unknown |
Het |
| Ice2 |
C |
T |
9: 69,335,782 (GRCm39) |
P922S |
possibly damaging |
Het |
| Iglv2 |
A |
G |
16: 19,079,260 (GRCm39) |
V81A |
not run |
Het |
| Irs1 |
A |
G |
1: 82,265,177 (GRCm39) |
I1013T |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,621,432 (GRCm39) |
S832P |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,517,513 (GRCm39) |
Y388N |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,348,601 (GRCm39) |
S2698L |
unknown |
Het |
| Map4k4 |
T |
C |
1: 40,058,829 (GRCm39) |
Y1008H |
possibly damaging |
Het |
| Mdn1 |
G |
T |
4: 32,701,823 (GRCm39) |
G1519W |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,809 (GRCm39) |
D653E |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,208,733 (GRCm39) |
E48G |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,231,842 (GRCm39) |
|
probably null |
Het |
| Or1p1b |
G |
T |
11: 74,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Or3a4 |
T |
A |
11: 73,945,223 (GRCm39) |
M121L |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,832,075 (GRCm39) |
L186F |
|
Het |
| Or51a39 |
A |
G |
7: 102,362,873 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,574 (GRCm39) |
V251D |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,123,840 (GRCm39) |
N65S |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,158,383 (GRCm39) |
V439A |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,341 (GRCm39) |
G13W |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,509,237 (GRCm39) |
V230A |
probably benign |
Het |
| Pop1 |
C |
T |
15: 34,510,525 (GRCm39) |
S439L |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,929,533 (GRCm39) |
H83Q |
probably benign |
Het |
| Qrfp |
C |
T |
2: 31,698,704 (GRCm39) |
R76H |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,139 (GRCm39) |
V197A |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,047 (GRCm39) |
N591D |
possibly damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,807 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Spock1 |
C |
T |
13: 58,055,316 (GRCm39) |
G29D |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,674 (GRCm39) |
P109Q |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,904,309 (GRCm39) |
F239L |
probably damaging |
Het |
| Tbx3 |
A |
G |
5: 119,813,648 (GRCm39) |
Y248C |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,266,637 (GRCm39) |
L217P |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,853,726 (GRCm39) |
I398L |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,884 (GRCm39) |
S40T |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,023,900 (GRCm39) |
S894G |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,592,347 (GRCm39) |
|
probably null |
Het |
| Vps13c |
G |
A |
9: 67,853,107 (GRCm39) |
G2400D |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,032 (GRCm39) |
Y197H |
probably damaging |
Het |
| Wdr91 |
T |
C |
6: 34,866,209 (GRCm39) |
N486D |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,908 (GRCm39) |
I695T |
possibly damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,382,547 (GRCm39) |
D133G |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,335,200 (GRCm39) |
I307V |
unknown |
Het |
| Zfp933 |
G |
A |
4: 147,910,636 (GRCm39) |
T320I |
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 |
|
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'- ACTTGAATCAGAGTAGCTAGTGCAG -3'
(R):5'- TGTTTTAGGCAGAGGAGCAGC -3'
Sequencing Primer
(F):5'- CAGCTTTCTTGTGACACATGGGC -3'
(R):5'- TTTTAGGCAGAGGAGCAGCTTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation