Incidental Mutation 'R5476:Ccdc96'
| ID |
434074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc96
|
| Ensembl Gene |
ENSMUSG00000050677 |
| Gene Name |
coiled-coil domain containing 96 |
| Synonyms |
4921513E08Rik |
| MMRRC Submission |
043037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5476 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36641932-36645515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36642981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 329
(D329G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031094]
[ENSMUST00000031097]
[ENSMUST00000060100]
[ENSMUST00000119916]
[ENSMUST00000126077]
[ENSMUST00000136189]
[ENSMUST00000140607]
[ENSMUST00000171385]
[ENSMUST00000146430]
|
| AlphaFold |
Q9CR92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031094
|
| SMART Domains |
Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
|
Blast:TBC
|
316 |
375 |
1e-8 |
BLAST |
|
TBC
|
399 |
635 |
1.49e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031097
|
| SMART Domains |
Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_ZZ
|
3 |
46 |
2.64e-5 |
SMART |
|
SANT
|
66 |
116 |
1.75e-9 |
SMART |
|
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060100
AA Change: D329G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059636
Gene: ENSMUSG00000050677
AA Change: D329G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
SCOP:d1qbkb_
|
99 |
144 |
6e-3 |
SMART |
|
low complexity region
|
223 |
234 |
N/A |
INTRINSIC |
|
coiled coil region
|
315 |
355 |
N/A |
INTRINSIC |
|
Pfam:DUF4201
|
394 |
570 |
9.5e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119916
|
| SMART Domains |
Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
16 |
41 |
2e-10 |
BLAST |
|
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126077
|
| SMART Domains |
Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
|
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136189
|
| SMART Domains |
Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
|
Blast:TBC
|
247 |
322 |
1e-32 |
BLAST |
|
TBC
|
399 |
559 |
8.9e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140607
|
| SMART Domains |
Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
|
Blast:TBC
|
316 |
375 |
1e-8 |
BLAST |
|
TBC
|
399 |
635 |
1.49e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171385
|
| SMART Domains |
Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
35 |
94 |
5e-9 |
BLAST |
|
TBC
|
118 |
354 |
1.49e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146430
|
| SMART Domains |
Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
174 |
N/A |
INTRINSIC |
|
Blast:TBC
|
316 |
375 |
1e-8 |
BLAST |
|
TBC
|
399 |
635 |
1.49e-54 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
| Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
| Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
| Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
| Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
| Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
| Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
| Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
| Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
| Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably damaging |
Het |
|
| Other mutations in Ccdc96 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Ccdc96
|
APN |
5 |
36,642,424 (GRCm39) |
unclassified |
probably benign |
|
|
R0167:Ccdc96
|
UTSW |
5 |
36,642,497 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0302:Ccdc96
|
UTSW |
5 |
36,643,445 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0423:Ccdc96
|
UTSW |
5 |
36,642,591 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0532:Ccdc96
|
UTSW |
5 |
36,643,710 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3800:Ccdc96
|
UTSW |
5 |
36,643,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Ccdc96
|
UTSW |
5 |
36,642,510 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4575:Ccdc96
|
UTSW |
5 |
36,643,419 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4720:Ccdc96
|
UTSW |
5 |
36,642,219 (GRCm39) |
unclassified |
probably benign |
|
|
R5945:Ccdc96
|
UTSW |
5 |
36,643,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Ccdc96
|
UTSW |
5 |
36,643,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6434:Ccdc96
|
UTSW |
5 |
36,643,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Ccdc96
|
UTSW |
5 |
36,643,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6632:Ccdc96
|
UTSW |
5 |
36,642,533 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6633:Ccdc96
|
UTSW |
5 |
36,642,533 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7395:Ccdc96
|
UTSW |
5 |
36,642,609 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7819:Ccdc96
|
UTSW |
5 |
36,643,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8466:Ccdc96
|
UTSW |
5 |
36,642,252 (GRCm39) |
unclassified |
probably benign |
|
|
R9351:Ccdc96
|
UTSW |
5 |
36,642,069 (GRCm39) |
missense |
unknown |
|
|
X0022:Ccdc96
|
UTSW |
5 |
36,643,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ccdc96
|
UTSW |
5 |
36,642,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACCACTCCCTGCTAGTG -3'
(R):5'- TTCTTATCCTCCAGGGCCTGAAG -3'
Sequencing Primer
(F):5'- CTAGTGGAGCGGAACCGTTATC -3'
(R):5'- TCCAGGGCCTGAAGCTGTTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation