Incidental Mutation 'R0371:Ccdc110'
| ID |
30477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc110
|
| Ensembl Gene |
ENSMUSG00000071104 |
| Gene Name |
coiled-coil domain containing 110 |
| Synonyms |
LOC212392 |
| MMRRC Submission |
038577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46395843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 578
(M578K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
| AlphaFold |
Q3V125 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095326
AA Change: M578K
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: M578K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
| Meta Mutation Damage Score |
0.1032 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
G |
A |
16: 4,105,911 (GRCm39) |
R1068C |
probably benign |
Het |
| Afmid |
C |
T |
11: 117,725,966 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
G |
2: 113,988,085 (GRCm39) |
V159A |
possibly damaging |
Het |
| Atp6v0d2 |
G |
C |
4: 19,880,033 (GRCm39) |
T288R |
possibly damaging |
Het |
| Btnl1 |
T |
C |
17: 34,600,031 (GRCm39) |
V178A |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,674 (GRCm39) |
E51* |
probably null |
Het |
| Cep290 |
T |
A |
10: 100,354,426 (GRCm39) |
|
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,334,256 (GRCm39) |
E914G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,450,307 (GRCm39) |
N208S |
probably benign |
Het |
| Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
| Cyp4a12a |
C |
G |
4: 115,183,880 (GRCm39) |
R229G |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,207,339 (GRCm39) |
V337M |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,271,186 (GRCm39) |
N321S |
probably benign |
Het |
| Enpep |
C |
T |
3: 129,077,516 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,929 (GRCm39) |
L560P |
probably damaging |
Het |
| Fdxr |
T |
C |
11: 115,166,915 (GRCm39) |
H58R |
possibly damaging |
Het |
| Filip1 |
G |
T |
9: 79,767,373 (GRCm39) |
P147T |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,190 (GRCm39) |
E318K |
possibly damaging |
Het |
| Grk2 |
T |
C |
19: 4,341,614 (GRCm39) |
|
probably null |
Het |
| Gvin-ps6 |
A |
T |
7: 106,021,986 (GRCm39) |
C339S |
unknown |
Het |
| Havcr1 |
T |
C |
11: 46,643,416 (GRCm39) |
I112T |
possibly damaging |
Het |
| Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
| Ildr2 |
G |
A |
1: 166,131,133 (GRCm39) |
V330I |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,097,115 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,647,385 (GRCm39) |
|
probably benign |
Het |
| Irf2bpl |
C |
T |
12: 86,928,417 (GRCm39) |
W752* |
probably null |
Het |
| Kdr |
T |
A |
5: 76,102,494 (GRCm39) |
H1211L |
probably benign |
Het |
| Klri2 |
A |
G |
6: 129,709,106 (GRCm39) |
*249R |
probably null |
Het |
| Ktn1 |
A |
T |
14: 47,961,460 (GRCm39) |
K1054* |
probably null |
Het |
| Lactb2 |
A |
G |
1: 13,720,984 (GRCm39) |
S83P |
possibly damaging |
Het |
| Lrrc3b |
A |
T |
14: 15,358,560 (GRCm38) |
C15* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,078 (GRCm39) |
I430V |
probably benign |
Het |
| Myo3b |
C |
T |
2: 70,083,304 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,096 (GRCm39) |
T696I |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,898 (GRCm39) |
D240G |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
| Or2a25 |
A |
T |
6: 42,888,872 (GRCm39) |
R138S |
probably benign |
Het |
| Or3a1d |
T |
A |
11: 74,237,760 (GRCm39) |
I217F |
probably damaging |
Het |
| Or4k77 |
A |
T |
2: 111,199,498 (GRCm39) |
I174L |
probably benign |
Het |
| Or5ac23 |
A |
G |
16: 59,149,585 (GRCm39) |
C96R |
possibly damaging |
Het |
| Pabpc1l |
G |
A |
2: 163,877,192 (GRCm39) |
V256M |
probably benign |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,067,958 (GRCm39) |
D409G |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,113,131 (GRCm39) |
D369E |
possibly damaging |
Het |
| Smg1 |
T |
A |
7: 117,767,523 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,224,067 (GRCm39) |
D27E |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
A |
G |
19: 48,592,333 (GRCm39) |
I333V |
probably benign |
Het |
| Spag7 |
A |
G |
11: 70,555,622 (GRCm39) |
M105T |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,748,432 (GRCm39) |
S407T |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,113,983 (GRCm39) |
N854S |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,980,619 (GRCm39) |
S1460P |
probably damaging |
Het |
| Taok3 |
C |
T |
5: 117,344,752 (GRCm39) |
Q160* |
probably null |
Het |
| Tchhl1 |
C |
A |
3: 93,376,884 (GRCm39) |
A27E |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,714,178 (GRCm39) |
D539G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,940,137 (GRCm39) |
F374L |
probably damaging |
Het |
| Unc5c |
C |
T |
3: 141,533,283 (GRCm39) |
P770S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,394 (GRCm39) |
N393K |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,556 (GRCm39) |
H285L |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,941,583 (GRCm39) |
S700L |
possibly damaging |
Het |
| Wscd1 |
A |
G |
11: 71,679,549 (GRCm39) |
D474G |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,762,190 (GRCm39) |
N106S |
probably damaging |
Het |
| Zfp345 |
G |
T |
2: 150,313,983 (GRCm39) |
T518N |
possibly damaging |
Het |
| Zfp648 |
A |
T |
1: 154,080,413 (GRCm39) |
S191C |
possibly damaging |
Het |
| Zkscan8 |
C |
T |
13: 21,710,844 (GRCm39) |
E89K |
probably damaging |
Het |
|
| Other mutations in Ccdc110 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01898:Ccdc110
|
APN |
8 |
46,395,161 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02175:Ccdc110
|
APN |
8 |
46,393,660 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02471:Ccdc110
|
APN |
8 |
46,394,793 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02524:Ccdc110
|
APN |
8 |
46,394,979 (GRCm39) |
missense |
probably benign |
|
|
IGL02887:Ccdc110
|
APN |
8 |
46,396,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03227:Ccdc110
|
APN |
8 |
46,394,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03238:Ccdc110
|
APN |
8 |
46,394,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
droll
|
UTSW |
8 |
46,395,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
humorless
|
UTSW |
8 |
46,396,487 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0049:Ccdc110
|
UTSW |
8 |
46,395,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Ccdc110
|
UTSW |
8 |
46,395,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Ccdc110
|
UTSW |
8 |
46,388,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0189:Ccdc110
|
UTSW |
8 |
46,388,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0218:Ccdc110
|
UTSW |
8 |
46,387,761 (GRCm39) |
splice site |
probably benign |
|
|
R0280:Ccdc110
|
UTSW |
8 |
46,396,487 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0332:Ccdc110
|
UTSW |
8 |
46,396,001 (GRCm39) |
nonsense |
probably null |
|
|
R0469:Ccdc110
|
UTSW |
8 |
46,388,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0502:Ccdc110
|
UTSW |
8 |
46,387,761 (GRCm39) |
splice site |
probably benign |
|
|
R0510:Ccdc110
|
UTSW |
8 |
46,388,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0534:Ccdc110
|
UTSW |
8 |
46,388,175 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0647:Ccdc110
|
UTSW |
8 |
46,396,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0714:Ccdc110
|
UTSW |
8 |
46,396,047 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0721:Ccdc110
|
UTSW |
8 |
46,395,026 (GRCm39) |
missense |
probably benign |
|
|
R1029:Ccdc110
|
UTSW |
8 |
46,394,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1147:Ccdc110
|
UTSW |
8 |
46,397,121 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1147:Ccdc110
|
UTSW |
8 |
46,397,121 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1170:Ccdc110
|
UTSW |
8 |
46,394,922 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1340:Ccdc110
|
UTSW |
8 |
46,395,218 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1540:Ccdc110
|
UTSW |
8 |
46,395,362 (GRCm39) |
nonsense |
probably null |
|
|
R1587:Ccdc110
|
UTSW |
8 |
46,394,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1602:Ccdc110
|
UTSW |
8 |
46,391,955 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1629:Ccdc110
|
UTSW |
8 |
46,395,164 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1842:Ccdc110
|
UTSW |
8 |
46,393,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Ccdc110
|
UTSW |
8 |
46,396,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Ccdc110
|
UTSW |
8 |
46,396,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Ccdc110
|
UTSW |
8 |
46,396,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Ccdc110
|
UTSW |
8 |
46,395,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2093:Ccdc110
|
UTSW |
8 |
46,395,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Ccdc110
|
UTSW |
8 |
46,395,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3613:Ccdc110
|
UTSW |
8 |
46,395,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3923:Ccdc110
|
UTSW |
8 |
46,395,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4648:Ccdc110
|
UTSW |
8 |
46,395,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4773:Ccdc110
|
UTSW |
8 |
46,396,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Ccdc110
|
UTSW |
8 |
46,396,437 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4911:Ccdc110
|
UTSW |
8 |
46,395,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4923:Ccdc110
|
UTSW |
8 |
46,396,460 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5104:Ccdc110
|
UTSW |
8 |
46,395,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5561:Ccdc110
|
UTSW |
8 |
46,393,646 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5966:Ccdc110
|
UTSW |
8 |
46,395,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Ccdc110
|
UTSW |
8 |
46,396,536 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6141:Ccdc110
|
UTSW |
8 |
46,394,807 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6326:Ccdc110
|
UTSW |
8 |
46,395,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Ccdc110
|
UTSW |
8 |
46,396,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6405:Ccdc110
|
UTSW |
8 |
46,394,734 (GRCm39) |
nonsense |
probably null |
|
|
R6482:Ccdc110
|
UTSW |
8 |
46,395,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6815:Ccdc110
|
UTSW |
8 |
46,395,024 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7387:Ccdc110
|
UTSW |
8 |
46,395,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7680:Ccdc110
|
UTSW |
8 |
46,394,688 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8099:Ccdc110
|
UTSW |
8 |
46,395,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Ccdc110
|
UTSW |
8 |
46,396,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Ccdc110
|
UTSW |
8 |
46,395,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Ccdc110
|
UTSW |
8 |
46,396,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8532:Ccdc110
|
UTSW |
8 |
46,396,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Ccdc110
|
UTSW |
8 |
46,395,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9073:Ccdc110
|
UTSW |
8 |
46,395,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9088:Ccdc110
|
UTSW |
8 |
46,394,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9803:Ccdc110
|
UTSW |
8 |
46,395,626 (GRCm39) |
missense |
probably benign |
|
|
X0053:Ccdc110
|
UTSW |
8 |
46,395,998 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0054:Ccdc110
|
UTSW |
8 |
46,394,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAACTGAAGTCTCTGGCTGAAG -3'
(R):5'- ACTGTGAAGAAGCGACTCCTGCTC -3'
Sequencing Primer
(F):5'- GTGCTCTTCAGTCCAAGTTAAG -3'
(R):5'- ACTCCTGCTCCGCTTTAATCAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation