Incidental Mutation 'R6276:Ccdc146'
| ID |
507628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc146
|
| Ensembl Gene |
ENSMUSG00000064280 |
| Gene Name |
coiled-coil domain containing 146 |
| Synonyms |
4930528G09Rik |
| MMRRC Submission |
044446-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21497959-21629675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 21506338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 701
(I701S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115245]
[ENSMUST00000198930]
|
| AlphaFold |
E9Q9F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115245
AA Change: I701S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: I701S
| 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: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,874 (GRCm39) |
D364E |
probably benign |
Het |
| Adra2c |
C |
T |
5: 35,437,423 (GRCm39) |
T65I |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,925,229 (GRCm39) |
|
probably null |
Het |
| Ager |
T |
C |
17: 34,817,728 (GRCm39) |
V126A |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,736 (GRCm39) |
I288M |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,862,068 (GRCm39) |
S541C |
probably benign |
Het |
| Asb4 |
A |
G |
6: 5,431,043 (GRCm39) |
Y426C |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,878,406 (GRCm39) |
T82I |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,778,567 (GRCm39) |
R764S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,056 (GRCm39) |
K145E |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,345,903 (GRCm39) |
I172F |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,718,647 (GRCm39) |
E199G |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,478,921 (GRCm39) |
T216S |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,858 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,214,636 (GRCm39) |
N649S |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,579,458 (GRCm39) |
T335I |
possibly damaging |
Het |
| Epb41l2 |
G |
T |
10: 25,378,022 (GRCm39) |
G695C |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
| F2rl1 |
G |
T |
13: 95,650,446 (GRCm39) |
Y145* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,810,785 (GRCm39) |
Y2368F |
possibly damaging |
Het |
| Galnt7 |
C |
T |
8: 57,989,612 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,941,802 (GRCm39) |
Y627* |
probably null |
Het |
| Gm6811 |
T |
A |
17: 21,314,245 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6811 |
T |
G |
17: 21,314,952 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M1 |
G |
A |
17: 36,982,602 (GRCm39) |
T86M |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,720,347 (GRCm39) |
D170G |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,614,432 (GRCm39) |
A1325T |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,707,826 (GRCm39) |
Y89* |
probably null |
Het |
| Itga1 |
T |
C |
13: 115,117,388 (GRCm39) |
E871G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,429,421 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,979 (GRCm39) |
A756E |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,312,728 (GRCm39) |
C105* |
probably null |
Het |
| Lama1 |
G |
A |
17: 68,091,083 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
G |
18: 12,640,006 (GRCm39) |
N67S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,956,587 (GRCm39) |
|
probably null |
Het |
| Lypd9 |
T |
A |
11: 58,337,192 (GRCm39) |
I94L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,438,578 (GRCm39) |
V34A |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,549 (GRCm39) |
L487P |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,959,508 (GRCm39) |
S1430T |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,373,723 (GRCm39) |
T495I |
probably benign |
Het |
| Or1e31 |
A |
T |
11: 73,690,229 (GRCm39) |
M118K |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,966,457 (GRCm39) |
A980T |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,666 (GRCm39) |
I620N |
probably damaging |
Het |
| Pcdha6 |
A |
G |
18: 37,102,820 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
A |
18: 37,554,813 (GRCm39) |
V48M |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,697 (GRCm39) |
E139G |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phactr3 |
G |
A |
2: 177,920,812 (GRCm39) |
E222K |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,153,684 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,206,076 (GRCm39) |
H278R |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,886 (GRCm39) |
H91Q |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,264,503 (GRCm39) |
N78S |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,078 (GRCm39) |
I1614N |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,448,766 (GRCm39) |
Y593C |
probably damaging |
Het |
| Tcaf2 |
G |
C |
6: 42,606,687 (GRCm39) |
F422L |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,067,217 (GRCm39) |
F2216I |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,441 (GRCm39) |
E846G |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,580,313 (GRCm39) |
I753T |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,267,309 (GRCm39) |
T70M |
possibly damaging |
Het |
| Vmn1r124 |
A |
C |
7: 20,994,104 (GRCm39) |
F147V |
probably benign |
Het |
| Vmn1r220 |
T |
C |
13: 23,368,465 (GRCm39) |
D77G |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,493,730 (GRCm39) |
H72R |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,318 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,671,732 (GRCm39) |
A490S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,831,482 (GRCm39) |
A915T |
possibly damaging |
Het |
| Zmiz2 |
G |
T |
11: 6,345,604 (GRCm39) |
|
probably null |
Het |
| Zscan2 |
A |
G |
7: 80,525,557 (GRCm39) |
N426S |
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 |
|
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 |
|
|
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'- ACTATAAACTCCAAGGGGCCAG -3'
(R):5'- CTGTTCTGTATGCTATGAGCCC -3'
Sequencing Primer
(F):5'- CAGGAGCCAAGCCAACGG -3'
(R):5'- CACAGAGACTAAGAAATAGTGGCCTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation