Incidental Mutation 'R2093:Ccdc110'
| ID |
231915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc110
|
| Ensembl Gene |
ENSMUSG00000071104 |
| Gene Name |
coiled-coil domain containing 110 |
| Synonyms |
LOC212392 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2093 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46395114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 335
(T335K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
| AlphaFold |
Q3V125 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095326
AA Change: T335K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: T335K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,671,041 (GRCm39) |
D421G |
probably benign |
Het |
| Adamts1 |
T |
G |
16: 85,599,333 (GRCm39) |
Q89P |
probably benign |
Het |
| Arhgef10l |
T |
G |
4: 140,297,601 (GRCm39) |
N277T |
possibly damaging |
Het |
| Atp2c1 |
G |
A |
9: 105,295,320 (GRCm39) |
R669* |
probably null |
Het |
| Brip1 |
T |
C |
11: 86,029,971 (GRCm39) |
T558A |
possibly damaging |
Het |
| Cbr2 |
G |
A |
11: 120,621,255 (GRCm39) |
T148I |
probably benign |
Het |
| Cd44 |
T |
G |
2: 102,644,629 (GRCm39) |
D731A |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,501,986 (GRCm39) |
D44G |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,002,237 (GRCm39) |
V23A |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,505,995 (GRCm39) |
H673L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,372,150 (GRCm39) |
A493V |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,299,256 (GRCm39) |
V19E |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,518,858 (GRCm39) |
D418G |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,742 (GRCm39) |
H234L |
probably benign |
Het |
| Drc3 |
C |
T |
11: 60,261,310 (GRCm39) |
R154W |
probably damaging |
Het |
| Drgx |
C |
T |
14: 32,369,112 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,550 (GRCm39) |
S370P |
probably benign |
Het |
| Fdx2 |
T |
C |
9: 20,984,720 (GRCm39) |
H28R |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,553,194 (GRCm39) |
I381V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
C |
5: 96,929,062 (GRCm39) |
L3822P |
probably damaging |
Het |
| Gm3604 |
G |
T |
13: 62,517,420 (GRCm39) |
H313N |
possibly damaging |
Het |
| Heatr4 |
T |
C |
12: 84,021,855 (GRCm39) |
E460G |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,257,151 (GRCm39) |
H834L |
possibly damaging |
Het |
| Insr |
A |
T |
8: 3,254,762 (GRCm39) |
C331S |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,613,694 (GRCm39) |
L304F |
probably damaging |
Het |
| Klhdc3 |
C |
T |
17: 46,988,879 (GRCm39) |
V104I |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,566,178 (GRCm39) |
E2181G |
unknown |
Het |
| Map2 |
T |
C |
1: 66,438,599 (GRCm39) |
V41A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,017,347 (GRCm39) |
H156Q |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,892,263 (GRCm39) |
L1669Q |
probably damaging |
Het |
| Nme8 |
G |
A |
13: 19,835,042 (GRCm39) |
S548F |
probably damaging |
Het |
| Npas1 |
A |
T |
7: 16,193,202 (GRCm39) |
N408K |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,941 (GRCm39) |
Y177F |
probably benign |
Het |
| Or8k30 |
A |
C |
2: 86,339,587 (GRCm39) |
Q261H |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,626,216 (GRCm39) |
Y1141H |
probably damaging |
Het |
| Pmaip1 |
C |
A |
18: 66,594,052 (GRCm39) |
P64Q |
probably damaging |
Het |
| Ranbp3 |
T |
A |
17: 57,017,145 (GRCm39) |
M387K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,792 (GRCm39) |
Y231H |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,996,760 (GRCm39) |
S105G |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
T |
19: 7,434,215 (GRCm39) |
D573E |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,454,893 (GRCm39) |
C159R |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,833,948 (GRCm39) |
Y78C |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,738,438 (GRCm39) |
V432A |
probably benign |
Het |
| Spag1 |
T |
C |
15: 36,224,276 (GRCm39) |
L609P |
probably damaging |
Het |
| Spata21 |
T |
G |
4: 140,824,277 (GRCm39) |
V180G |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,721,222 (GRCm39) |
Y1319* |
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,467,794 (GRCm39) |
I451F |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,340,896 (GRCm39) |
C8R |
unknown |
Het |
| Tmprss13 |
A |
G |
9: 45,256,340 (GRCm39) |
R485G |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,773,565 (GRCm39) |
A266T |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,855 (GRCm39) |
T25A |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,450,702 (GRCm39) |
V196A |
probably benign |
Het |
| Vmn2r82 |
C |
T |
10: 79,231,813 (GRCm39) |
T604I |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,349,139 (GRCm39) |
T192N |
probably benign |
Het |
| Zfp354a |
C |
T |
11: 50,960,551 (GRCm39) |
T254I |
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 |
|
|
R0371:Ccdc110
|
UTSW |
8 |
46,395,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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'- GAACTCCACACTTTCCAGGCAG -3'
(R):5'- TGAACGCTTGGCCTTCTTTG -3'
Sequencing Primer
(F):5'- ACTTTCCAGGCAGACGCGAG -3'
(R):5'- GTGTTTCCCTAGGTCCAGGAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation