Incidental Mutation 'R6123:Ccdc146'
ID |
485825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc146
|
Ensembl Gene |
ENSMUSG00000064280 |
Gene Name |
coiled-coil domain containing 146 |
Synonyms |
4930528G09Rik |
MMRRC Submission |
044270-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6123 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 21510595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Isoleucine
at position 504
(R504I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115245]
[ENSMUST00000198930]
|
AlphaFold |
E9Q9F7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115245
AA Change: R504I
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110900 Gene: ENSMUSG00000064280 AA Change: R504I
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 |
probably benign
Transcript: ENSMUST00000198930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199553
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
A |
G |
4: 152,284,402 (GRCm39) |
E24G |
probably benign |
Het |
Ankrd34b |
A |
G |
13: 92,575,584 (GRCm39) |
E272G |
probably damaging |
Het |
Arhgef18 |
A |
T |
8: 3,487,091 (GRCm39) |
N270I |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,763,179 (GRCm39) |
|
probably benign |
Het |
Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
Ckmt1 |
C |
G |
2: 121,194,060 (GRCm39) |
R408G |
probably benign |
Het |
Clba1 |
T |
C |
12: 112,774,530 (GRCm39) |
F153L |
probably damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,406,266 (GRCm39) |
*502R |
probably null |
Het |
Dido1 |
A |
T |
2: 180,325,760 (GRCm39) |
V476E |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,409,185 (GRCm39) |
K398E |
probably benign |
Het |
E130308A19Rik |
A |
G |
4: 59,737,565 (GRCm39) |
Y392C |
probably damaging |
Het |
Esf1 |
T |
A |
2: 140,010,309 (GRCm39) |
D9V |
probably benign |
Het |
Fam168a |
A |
G |
7: 100,473,357 (GRCm39) |
Q82R |
probably damaging |
Het |
Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
Gm14496 |
T |
A |
2: 181,633,020 (GRCm39) |
M1K |
probably null |
Het |
Gm6665 |
A |
G |
18: 31,952,937 (GRCm39) |
M79T |
probably benign |
Het |
Gna15 |
A |
G |
10: 81,345,178 (GRCm39) |
L229P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,404,532 (GRCm39) |
T4451A |
probably damaging |
Het |
Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
Ighv5-4 |
A |
T |
12: 113,561,313 (GRCm39) |
S36T |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,320,861 (GRCm39) |
V186A |
probably benign |
Het |
Jrk |
A |
G |
15: 74,578,529 (GRCm39) |
I252T |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,134,365 (GRCm39) |
S395G |
probably benign |
Het |
Kcnt2 |
C |
T |
1: 140,290,718 (GRCm39) |
P103S |
probably damaging |
Het |
Klra10 |
T |
C |
6: 130,256,339 (GRCm39) |
K105R |
probably benign |
Het |
P4ha1 |
A |
T |
10: 59,186,349 (GRCm39) |
K276I |
possibly damaging |
Het |
Pcyox1 |
A |
G |
6: 86,365,910 (GRCm39) |
S435P |
possibly damaging |
Het |
Potegl |
T |
C |
2: 23,120,134 (GRCm39) |
Y235H |
possibly damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,334 (GRCm39) |
M53K |
possibly damaging |
Het |
R3hdm1 |
A |
T |
1: 128,096,773 (GRCm39) |
N103I |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,302,339 (GRCm39) |
V421A |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,402,705 (GRCm39) |
|
probably null |
Het |
Scaf11 |
A |
G |
15: 96,318,335 (GRCm39) |
S410P |
probably benign |
Het |
Slc16a1 |
A |
G |
3: 104,560,510 (GRCm39) |
T272A |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,957,095 (GRCm39) |
D559G |
probably damaging |
Het |
Sntb2 |
G |
A |
8: 107,707,857 (GRCm39) |
G207D |
probably damaging |
Het |
Spata31f1e |
A |
G |
4: 42,793,065 (GRCm39) |
S356P |
possibly damaging |
Het |
Spdye4a |
T |
C |
5: 143,211,473 (GRCm39) |
I30M |
possibly damaging |
Het |
Thumpd1 |
A |
T |
7: 119,316,232 (GRCm39) |
V239E |
probably damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,663,162 (GRCm39) |
S54G |
probably benign |
Het |
Tor1aip1 |
A |
G |
1: 155,882,951 (GRCm39) |
I299T |
probably damaging |
Het |
Tpst2 |
C |
T |
5: 112,456,084 (GRCm39) |
R208C |
probably damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,587,510 (GRCm39) |
Y285C |
probably damaging |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,206,959 (GRCm39) |
S1105P |
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 |
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 |
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 |
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'- GCTGGCAAATTCTCTGAGTCTG -3'
(R):5'- CCCCTTGTCCTAGTTGATGG -3'
Sequencing Primer
(F):5'- TCTCTGAGTCTGAAAACATGAGATGG -3'
(R):5'- GTCCTAGTTGATGGGAATCACTCC -3'
|
Posted On |
2017-08-16 |