Incidental Mutation 'R2922:Ccdc116'
ID |
255593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc116
|
Ensembl Gene |
ENSMUSG00000022768 |
Gene Name |
coiled-coil domain containing 116 |
Synonyms |
4930432J16Rik |
MMRRC Submission |
040507-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2922 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
16956928-16965093 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16960307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 170
(H170R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023452]
[ENSMUST00000069064]
[ENSMUST00000115709]
[ENSMUST00000115711]
[ENSMUST00000232033]
[ENSMUST00000232540]
[ENSMUST00000231726]
[ENSMUST00000232344]
[ENSMUST00000231493]
[ENSMUST00000232479]
[ENSMUST00000231708]
[ENSMUST00000231597]
|
AlphaFold |
Q80X53 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023452
AA Change: H170R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023452 Gene: ENSMUSG00000022768 AA Change: H170R
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069064
|
SMART Domains |
Protein: ENSMUSP00000069864 Gene: ENSMUSG00000041774
Domain | Start | End | E-Value | Type |
Pfam:YdjC
|
7 |
288 |
1.3e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115709
AA Change: H170R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111374 Gene: ENSMUSG00000022768 AA Change: H170R
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115711
AA Change: H170R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111376 Gene: ENSMUSG00000022768 AA Change: H170R
Domain | Start | End | E-Value | Type |
Pfam:DUF4702
|
18 |
411 |
6.3e-223 |
PFAM |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137267
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145792
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232033
AA Change: H170R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232540
AA Change: H170R
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231726
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232344
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231539
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231597
|
Meta Mutation Damage Score |
0.0858 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
Bsn |
C |
T |
9: 107,985,385 (GRCm39) |
V2890M |
unknown |
Het |
Bsn |
T |
C |
9: 107,992,668 (GRCm39) |
E1028G |
probably damaging |
Het |
Cdk11b |
CAGAAGAAG |
CAGAAG |
4: 155,725,201 (GRCm39) |
|
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dlgap5 |
A |
G |
14: 47,627,898 (GRCm39) |
|
probably null |
Het |
Dmwd |
T |
C |
7: 18,810,270 (GRCm39) |
F26L |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,057,100 (GRCm39) |
|
probably benign |
Het |
Flii |
A |
G |
11: 60,609,742 (GRCm39) |
Y622H |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,240,333 (GRCm39) |
E17V |
probably benign |
Het |
Ghrh |
T |
C |
2: 157,173,797 (GRCm39) |
|
probably null |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,675,912 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
T |
C |
3: 89,428,329 (GRCm39) |
V185A |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,050,536 (GRCm39) |
T739A |
probably benign |
Het |
Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
Myh9 |
A |
G |
15: 77,697,384 (GRCm39) |
L10P |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
Nr3c1 |
C |
A |
18: 39,620,156 (GRCm39) |
A44S |
possibly damaging |
Het |
Or10n1 |
G |
A |
9: 39,525,060 (GRCm39) |
V66I |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
Pcolce2 |
T |
A |
9: 95,576,767 (GRCm39) |
L346Q |
probably damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,530,551 (GRCm39) |
|
probably benign |
Het |
Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
Tmem198b |
G |
A |
10: 128,638,062 (GRCm39) |
T167I |
probably damaging |
Het |
Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,206,811 (GRCm39) |
N4886S |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,692,405 (GRCm39) |
S956G |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,724 (GRCm39) |
P2986S |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,494,224 (GRCm39) |
E273G |
probably damaging |
Het |
|
Other mutations in Ccdc116 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01082:Ccdc116
|
APN |
16 |
16,959,856 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01905:Ccdc116
|
APN |
16 |
16,960,425 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02751:Ccdc116
|
APN |
16 |
16,959,836 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03183:Ccdc116
|
APN |
16 |
16,960,718 (GRCm39) |
missense |
probably benign |
0.07 |
R0009:Ccdc116
|
UTSW |
16 |
16,961,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Ccdc116
|
UTSW |
16 |
16,961,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0122:Ccdc116
|
UTSW |
16 |
16,960,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Ccdc116
|
UTSW |
16 |
16,959,476 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1664:Ccdc116
|
UTSW |
16 |
16,960,492 (GRCm39) |
missense |
probably benign |
0.02 |
R1718:Ccdc116
|
UTSW |
16 |
16,959,772 (GRCm39) |
missense |
probably benign |
|
R2921:Ccdc116
|
UTSW |
16 |
16,960,307 (GRCm39) |
missense |
probably benign |
0.02 |
R2923:Ccdc116
|
UTSW |
16 |
16,960,307 (GRCm39) |
missense |
probably benign |
0.02 |
R4119:Ccdc116
|
UTSW |
16 |
16,960,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Ccdc116
|
UTSW |
16 |
16,964,809 (GRCm39) |
unclassified |
probably benign |
|
R5000:Ccdc116
|
UTSW |
16 |
16,959,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5293:Ccdc116
|
UTSW |
16 |
16,959,651 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5435:Ccdc116
|
UTSW |
16 |
16,960,626 (GRCm39) |
missense |
probably benign |
0.38 |
R6694:Ccdc116
|
UTSW |
16 |
16,960,655 (GRCm39) |
missense |
probably benign |
0.44 |
R7215:Ccdc116
|
UTSW |
16 |
16,957,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R7247:Ccdc116
|
UTSW |
16 |
16,957,555 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7771:Ccdc116
|
UTSW |
16 |
16,957,455 (GRCm39) |
missense |
probably benign |
0.00 |
R9591:Ccdc116
|
UTSW |
16 |
16,960,598 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ccdc116
|
UTSW |
16 |
16,965,035 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAGCAGGATTGATTCAG -3'
(R):5'- GGTGCCAAGTAGTAGGCATC -3'
Sequencing Primer
(F):5'- AGCAGGATTGATTCAGGATTTTC -3'
(R):5'- TGCCAAGTAGTAGGCATCGATCTC -3'
|
Posted On |
2014-12-29 |