Incidental Mutation 'R2921:Ccdc116'
| ID |
255547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc116
|
| Ensembl Gene |
ENSMUSG00000022768 |
| Gene Name |
coiled-coil domain containing 116 |
| Synonyms |
4930432J16Rik |
| MMRRC Submission |
040506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2921 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,353,731 (GRCm39) |
V172A |
possibly damaging |
Het |
| Akt2 |
A |
G |
7: 27,328,411 (GRCm39) |
K146R |
probably benign |
Het |
| Atg4a |
T |
C |
X: 139,941,768 (GRCm39) |
V284A |
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 |
| Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dpm3 |
C |
T |
3: 89,174,062 (GRCm39) |
L8F |
probably damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,023,707 (GRCm39) |
S83P |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,240,333 (GRCm39) |
E17V |
probably benign |
Het |
| Gm57858 |
T |
C |
3: 36,080,077 (GRCm39) |
M227V |
probably null |
Het |
| Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
| Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
| Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
| Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
| Mlkl |
T |
C |
8: 112,043,079 (GRCm39) |
E356G |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,204,776 (GRCm39) |
I125N |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,334,223 (GRCm39) |
Y42N |
probably damaging |
Het |
| Nup155 |
A |
C |
15: 8,183,125 (GRCm39) |
E1228D |
probably damaging |
Het |
| Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,626,885 (GRCm39) |
N1218D |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,033,082 (GRCm39) |
I449N |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
| Rfx7 |
G |
A |
9: 72,524,946 (GRCm39) |
G712D |
possibly damaging |
Het |
| Rnf151 |
C |
T |
17: 24,935,235 (GRCm39) |
G232D |
possibly damaging |
Het |
| Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
| Safb2 |
A |
G |
17: 56,875,906 (GRCm39) |
V89A |
possibly damaging |
Het |
| Setx |
TGTGG |
TG |
2: 29,044,072 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
| Slc26a2 |
T |
A |
18: 61,335,007 (GRCm39) |
I149F |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,254,248 (GRCm39) |
D728G |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,871 (GRCm39) |
M623V |
probably benign |
Het |
| Smim1 |
A |
G |
4: 154,108,097 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
T |
C |
15: 76,168,125 (GRCm39) |
S195P |
probably damaging |
Het |
| Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
| Trpc6 |
A |
T |
9: 8,653,034 (GRCm39) |
L613F |
possibly damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
| Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
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 |
|
|
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 |
|
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'- CTGGGAGCAGGATTGATTCAG -3'
(R):5'- AGGTGCCAAGTAGTAGGCATC -3'
Sequencing Primer
(F):5'- AGCAGGATTGATTCAGGATTTTC -3'
(R):5'- TGCCAAGTAGTAGGCATCGATCTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation