Incidental Mutation 'R1556:Ccdc146'
| ID |
170257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc146
|
| Ensembl Gene |
ENSMUSG00000064280 |
| Gene Name |
coiled-coil domain containing 146 |
| Synonyms |
4930528G09Rik |
| MMRRC Submission |
039595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1556 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21535551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 168
(Y168H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000115245]
|
| AlphaFold |
E9Q9F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030552
AA Change: Y168H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: Y168H
| 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: Y168H
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: Y168H
| 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: ENSMUST00000132473
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,203,477 (GRCm39) |
S302P |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,466,819 (GRCm39) |
T1626A |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Arid5a |
T |
A |
1: 36,359,245 (GRCm39) |
Y520* |
probably null |
Het |
| Aven |
G |
A |
2: 112,461,230 (GRCm39) |
M215I |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,837 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cd68 |
T |
A |
11: 69,556,676 (GRCm39) |
T44S |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,338,558 (GRCm39) |
I867N |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,672 (GRCm39) |
V1783A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,208,214 (GRCm39) |
S31P |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,958,761 (GRCm39) |
W279R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,890,921 (GRCm39) |
I2817F |
possibly damaging |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gdf7 |
T |
C |
12: 8,351,698 (GRCm39) |
N79S |
unknown |
Het |
| Gpam |
A |
G |
19: 55,064,763 (GRCm39) |
V647A |
possibly damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,994,776 (GRCm39) |
T497A |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,525,579 (GRCm39) |
F337L |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,503,390 (GRCm39) |
V69D |
possibly damaging |
Het |
| H2-M10.5 |
T |
C |
17: 37,084,205 (GRCm39) |
Y56H |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,351,219 (GRCm39) |
|
probably null |
Het |
| Krt77 |
A |
G |
15: 101,769,713 (GRCm39) |
S386P |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,566,203 (GRCm39) |
M342K |
probably benign |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,010 (GRCm39) |
T186A |
probably benign |
Het |
| Lins1 |
C |
A |
7: 66,360,385 (GRCm39) |
C168* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,923,928 (GRCm39) |
T413M |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,348,813 (GRCm39) |
D4038G |
probably damaging |
Het |
| Mark3 |
T |
G |
12: 111,594,275 (GRCm39) |
N308K |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,597,367 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,179,762 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4k15c |
G |
A |
14: 50,321,916 (GRCm39) |
A74V |
possibly damaging |
Het |
| Or51a24 |
T |
A |
7: 103,733,468 (GRCm39) |
H273L |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,242 (GRCm39) |
V168A |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,894,068 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,015,836 (GRCm39) |
T408A |
probably damaging |
Het |
| Pcdh8 |
T |
G |
14: 80,007,843 (GRCm39) |
D240A |
probably damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,502,911 (GRCm39) |
|
probably null |
Het |
| Pecr |
T |
A |
1: 72,298,542 (GRCm39) |
I293L |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,226,402 (GRCm39) |
V583A |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 30,602,143 (GRCm39) |
K371R |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,196,626 (GRCm39) |
R769G |
possibly damaging |
Het |
| Sgtb |
T |
A |
13: 104,276,284 (GRCm39) |
N237K |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,476,751 (GRCm39) |
V91A |
probably damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,554 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
T |
C |
14: 14,778,872 (GRCm38) |
V940A |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,499 (GRCm39) |
T740A |
probably benign |
Het |
| Tnk2 |
G |
T |
16: 32,489,737 (GRCm39) |
|
probably null |
Het |
| Trpv2 |
A |
G |
11: 62,483,059 (GRCm39) |
Y450C |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,948,054 (GRCm39) |
T354A |
probably benign |
Het |
| Tvp23a |
A |
T |
16: 10,264,862 (GRCm39) |
D16E |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,997,850 (GRCm39) |
F460L |
possibly damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,356 (GRCm39) |
L1021P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,837,993 (GRCm39) |
Y1848H |
probably damaging |
Het |
| Vwa8 |
T |
G |
14: 79,324,121 (GRCm39) |
N1141K |
probably benign |
Het |
| Yipf3 |
A |
G |
17: 46,561,793 (GRCm39) |
Y200C |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,044 (GRCm39) |
V680A |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,231,347 (GRCm39) |
E722G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,806,059 (GRCm39) |
L2665H |
probably damaging |
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 |
|
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 |
|
R4043:Ccdc146
|
UTSW |
5 |
21,521,941 (GRCm39) |
missense |
probably benign |
0.14 |
|
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'- TCCCAGCAGTTTCCAAAGCTCC -3'
(R):5'- TGTCTTTGAAACCCAGCACGCAG -3'
Sequencing Primer
(F):5'- CTTGTCATGTGGAAACAGCC -3'
(R):5'- GAGTCTGAGGTGCAGCTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation