Incidental Mutation 'R4043:Ccdc146'
| ID |
313916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc146
|
| Ensembl Gene |
ENSMUSG00000064280 |
| Gene Name |
coiled-coil domain containing 146 |
| Synonyms |
4930528G09Rik |
| MMRRC Submission |
041615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21521941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 361
(C361Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000115245]
[ENSMUST00000198930]
|
| AlphaFold |
E9Q9F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030552
|
| SMART Domains |
Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
AA Change: C361Y
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: C361Y
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
|
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199553
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.9%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,409,360 (GRCm39) |
N44D |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,962 (GRCm39) |
F375L |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,192,201 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
G |
9: 5,302,444 (GRCm39) |
D122G |
probably benign |
Het |
| Cdc37l1 |
T |
C |
19: 28,968,028 (GRCm39) |
S31P |
possibly damaging |
Het |
| Cdca2 |
A |
T |
14: 67,941,455 (GRCm39) |
M249K |
probably benign |
Het |
| Cfap73 |
C |
T |
5: 120,768,030 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,612,575 (GRCm39) |
L749S |
probably damaging |
Het |
| Cmtr2 |
C |
A |
8: 110,948,462 (GRCm39) |
C257* |
probably null |
Het |
| Col6a4 |
A |
T |
9: 105,949,610 (GRCm39) |
L675* |
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,456,204 (GRCm39) |
D186E |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,619,362 (GRCm39) |
|
probably null |
Het |
| Daglb |
T |
A |
5: 143,472,906 (GRCm39) |
Y354N |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,068,075 (GRCm39) |
S549P |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,843,678 (GRCm39) |
D4389G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
| Gimap1 |
T |
A |
6: 48,720,176 (GRCm39) |
W263R |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,040,383 (GRCm39) |
C594G |
possibly damaging |
Het |
| Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,871,503 (GRCm39) |
D2703G |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,055,245 (GRCm39) |
V222I |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
G |
11: 103,389,479 (GRCm39) |
H1982P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,731,528 (GRCm39) |
L68Q |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,392,870 (GRCm39) |
D422E |
probably damaging |
Het |
| Mpz |
C |
T |
1: 170,987,340 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,215 (GRCm39) |
T1508S |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,338,350 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,920 (GRCm39) |
N400Y |
possibly damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
| Or7g35 |
G |
T |
9: 19,496,291 (GRCm39) |
V153F |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,232,824 (GRCm39) |
N1321S |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,920,314 (GRCm39) |
L756Q |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,064,144 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
G |
A |
7: 138,484,145 (GRCm39) |
W265* |
probably null |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Radil |
T |
A |
5: 142,479,988 (GRCm39) |
I471F |
probably benign |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
| Rpl10l |
A |
T |
12: 66,330,977 (GRCm39) |
M52K |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,156,380 (GRCm39) |
S510T |
possibly damaging |
Het |
| Sdad1 |
T |
G |
5: 92,450,553 (GRCm39) |
N194T |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,345,396 (GRCm39) |
Y259* |
probably null |
Het |
| Slc22a26 |
T |
C |
19: 7,765,694 (GRCm39) |
|
probably null |
Het |
| Snap91 |
C |
T |
9: 86,659,102 (GRCm39) |
G477D |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Srr |
T |
C |
11: 74,799,947 (GRCm39) |
T202A |
probably benign |
Het |
| Srrm1 |
C |
T |
4: 135,068,242 (GRCm39) |
|
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,276,626 (GRCm39) |
L869Q |
possibly damaging |
Het |
| Ttbk1 |
T |
A |
17: 46,757,688 (GRCm39) |
D982V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,624,501 (GRCm39) |
T15324A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,345,146 (GRCm39) |
D823A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,108 (GRCm39) |
N792K |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,734,023 (GRCm39) |
D2V |
possibly damaging |
Het |
| Zfyve16 |
A |
C |
13: 92,650,271 (GRCm39) |
|
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,195,765 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccdc146 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Ccdc146
|
APN |
5 |
21,506,420 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01066:Ccdc146
|
APN |
5 |
21,524,540 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01399:Ccdc146
|
APN |
5 |
21,499,611 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01866:Ccdc146
|
APN |
5 |
21,538,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01868:Ccdc146
|
APN |
5 |
21,538,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01869:Ccdc146
|
APN |
5 |
21,521,837 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02213:Ccdc146
|
APN |
5 |
21,521,902 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02338:Ccdc146
|
APN |
5 |
21,524,604 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02553:Ccdc146
|
APN |
5 |
21,502,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02838:Ccdc146
|
APN |
5 |
21,502,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
Starcraft
|
UTSW |
5 |
21,604,612 (GRCm39) |
splice site |
probably null |
|
|
R0051:Ccdc146
|
UTSW |
5 |
21,521,902 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0051:Ccdc146
|
UTSW |
5 |
21,521,902 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0055:Ccdc146
|
UTSW |
5 |
21,502,004 (GRCm39) |
splice site |
probably null |
|
|
R0115:Ccdc146
|
UTSW |
5 |
21,527,754 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0373:Ccdc146
|
UTSW |
5 |
21,524,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1251:Ccdc146
|
UTSW |
5 |
21,498,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1355:Ccdc146
|
UTSW |
5 |
21,526,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Ccdc146
|
UTSW |
5 |
21,604,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1405:Ccdc146
|
UTSW |
5 |
21,604,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Ccdc146
|
UTSW |
5 |
21,524,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Ccdc146
|
UTSW |
5 |
21,524,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Ccdc146
|
UTSW |
5 |
21,535,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Ccdc146
|
UTSW |
5 |
21,499,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Ccdc146
|
UTSW |
5 |
21,506,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2271:Ccdc146
|
UTSW |
5 |
21,604,719 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2329:Ccdc146
|
UTSW |
5 |
21,513,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2518:Ccdc146
|
UTSW |
5 |
21,510,526 (GRCm39) |
missense |
probably benign |
|
|
R2680:Ccdc146
|
UTSW |
5 |
21,510,267 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3116:Ccdc146
|
UTSW |
5 |
21,521,953 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3121:Ccdc146
|
UTSW |
5 |
21,499,591 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3122:Ccdc146
|
UTSW |
5 |
21,499,591 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3159:Ccdc146
|
UTSW |
5 |
21,604,790 (GRCm39) |
missense |
unknown |
|
|
R3436:Ccdc146
|
UTSW |
5 |
21,502,003 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4226:Ccdc146
|
UTSW |
5 |
21,527,756 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4493:Ccdc146
|
UTSW |
5 |
21,508,191 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5013:Ccdc146
|
UTSW |
5 |
21,538,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Ccdc146
|
UTSW |
5 |
21,604,612 (GRCm39) |
splice site |
probably null |
|
|
R5051:Ccdc146
|
UTSW |
5 |
21,508,081 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5384:Ccdc146
|
UTSW |
5 |
21,513,711 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5532:Ccdc146
|
UTSW |
5 |
21,510,329 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5906:Ccdc146
|
UTSW |
5 |
21,506,350 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5927:Ccdc146
|
UTSW |
5 |
21,513,619 (GRCm39) |
nonsense |
probably null |
|
|
R5951:Ccdc146
|
UTSW |
5 |
21,524,577 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5978:Ccdc146
|
UTSW |
5 |
21,521,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5990:Ccdc146
|
UTSW |
5 |
21,523,180 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6123:Ccdc146
|
UTSW |
5 |
21,510,595 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6217:Ccdc146
|
UTSW |
5 |
21,522,900 (GRCm39) |
splice site |
probably null |
|
|
R6276:Ccdc146
|
UTSW |
5 |
21,506,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6665:Ccdc146
|
UTSW |
5 |
21,508,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Ccdc146
|
UTSW |
5 |
21,510,272 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7204:Ccdc146
|
UTSW |
5 |
21,513,624 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7336:Ccdc146
|
UTSW |
5 |
21,508,110 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7608:Ccdc146
|
UTSW |
5 |
21,506,450 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8310:Ccdc146
|
UTSW |
5 |
21,506,469 (GRCm39) |
intron |
probably benign |
|
|
R8427:Ccdc146
|
UTSW |
5 |
21,604,790 (GRCm39) |
missense |
unknown |
|
|
R8927:Ccdc146
|
UTSW |
5 |
21,538,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Ccdc146
|
UTSW |
5 |
21,538,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Ccdc146
|
UTSW |
5 |
21,514,585 (GRCm39) |
intron |
probably benign |
|
|
R9003:Ccdc146
|
UTSW |
5 |
21,508,132 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9252:Ccdc146
|
UTSW |
5 |
21,502,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9425:Ccdc146
|
UTSW |
5 |
21,508,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9612:Ccdc146
|
UTSW |
5 |
21,535,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9774:Ccdc146
|
UTSW |
5 |
21,506,247 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTTTACTTTCATAGAGAGCCCTG -3'
(R):5'- CACACAAAAGTAGCTGATTTGGG -3'
Sequencing Primer
(F):5'- GCCCTGAGCTTAAACAAATGG -3'
(R):5'- CAAAAGTAGCTGATTTGGGTTTCAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation