Incidental Mutation 'R4119:Ccdc116'
| ID |
315244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc116
|
| Ensembl Gene |
ENSMUSG00000022768 |
| Gene Name |
coiled-coil domain containing 116 |
| Synonyms |
4930432J16Rik |
| MMRRC Submission |
040992-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16956928-16965093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16960051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 213
(S213P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023452]
[ENSMUST00000069064]
[ENSMUST00000115709]
[ENSMUST00000115711]
[ENSMUST00000232033]
[ENSMUST00000232540]
[ENSMUST00000232479]
[ENSMUST00000231597]
[ENSMUST00000231708]
[ENSMUST00000231493]
[ENSMUST00000231726]
[ENSMUST00000232344]
|
| AlphaFold |
Q80X53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023452
AA Change: S213P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023452
Gene: ENSMUSG00000022768
AA Change: S213P
| 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: S213P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111374
Gene: ENSMUSG00000022768
AA Change: S213P
| 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: S213P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111376
Gene: ENSMUSG00000022768
AA Change: S213P
| 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: S213P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232540
AA Change: S213P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231975
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232344
|
| Meta Mutation Damage Score |
0.1420 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,333,863 (GRCm39) |
L39P |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,211,877 (GRCm39) |
M138V |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,691,739 (GRCm39) |
I1067N |
probably damaging |
Het |
| Adam6a |
C |
T |
12: 113,508,194 (GRCm39) |
T189I |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Aplnr |
T |
C |
2: 84,967,310 (GRCm39) |
Y112H |
possibly damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,906,217 (GRCm39) |
F313S |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,046,069 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
G |
C |
2: 170,220,735 (GRCm39) |
P394A |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,385,242 (GRCm39) |
I2346T |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,785,658 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
A |
C |
6: 47,521,482 (GRCm39) |
N390K |
probably benign |
Het |
| Fbxo7 |
C |
A |
10: 85,857,759 (GRCm39) |
|
probably benign |
Het |
| Fibin |
A |
G |
2: 110,193,035 (GRCm39) |
Y36H |
probably damaging |
Het |
| Gpr37 |
C |
T |
6: 25,688,425 (GRCm39) |
R224H |
possibly damaging |
Het |
| Hars2 |
A |
T |
18: 36,923,541 (GRCm39) |
N363I |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,371,316 (GRCm39) |
D1140N |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,374,511 (GRCm39) |
V190A |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,633,868 (GRCm39) |
T660N |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,490,519 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,331,029 (GRCm39) |
I2213L |
probably damaging |
Het |
| Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,787 (GRCm39) |
Y62H |
probably damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,262 (GRCm39) |
T138A |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,720,574 (GRCm39) |
D308G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,973,049 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,794,153 (GRCm39) |
T942A |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,817,054 (GRCm39) |
V326D |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,910,799 (GRCm39) |
D282V |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,720,324 (GRCm39) |
F1287L |
probably damaging |
Het |
| Tshz1 |
T |
G |
18: 84,032,314 (GRCm39) |
K698T |
probably benign |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,773,979 (GRCm39) |
D1503E |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,965,805 (GRCm39) |
N549K |
probably benign |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp24 |
A |
G |
18: 24,147,626 (GRCm39) |
Y229H |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,189 (GRCm39) |
Y421* |
probably null |
Het |
| Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
possibly 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 |
|
R2922: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 |
|
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'- CAGCAGTGACTTCATCTCCTTG -3'
(R):5'- GAGGGACAAACTCCTGCTTGAG -3'
Sequencing Primer
(F):5'- GCAGTGACTTCATCTCCTTGTTTAAC -3'
(R):5'- GGGACAAACTCCTGCTTGAGAAAAAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation