Incidental Mutation 'R6632:Ccdc96'
ID |
525209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc96
|
Ensembl Gene |
ENSMUSG00000050677 |
Gene Name |
coiled-coil domain containing 96 |
Synonyms |
4921513E08Rik |
MMRRC Submission |
044754-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R6632 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
36641932-36645515 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36642533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 180
(E180K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031097]
[ENSMUST00000060100]
[ENSMUST00000119916]
|
AlphaFold |
Q9CR92 |
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 |
probably benign
Transcript: ENSMUST00000060100
AA Change: E180K
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000059636 Gene: ENSMUSG00000050677 AA Change: E180K
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 |
|
Meta Mutation Damage Score |
0.1939 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,429,186 (GRCm39) |
S758P |
possibly damaging |
Het |
Abca3 |
C |
G |
17: 24,603,444 (GRCm39) |
D545E |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,063,842 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Arpp21 |
G |
A |
9: 111,956,424 (GRCm39) |
Q518* |
probably null |
Het |
Atp9b |
G |
A |
18: 80,851,864 (GRCm39) |
R410W |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,627,222 (GRCm39) |
*265W |
probably null |
Het |
Cep164 |
T |
C |
9: 45,691,088 (GRCm39) |
K1231E |
possibly damaging |
Het |
Cnot1 |
A |
G |
8: 96,499,895 (GRCm39) |
|
probably benign |
Het |
Cpne2 |
T |
C |
8: 95,281,583 (GRCm39) |
V206A |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,411,085 (GRCm39) |
Y1647H |
probably damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,156,088 (GRCm39) |
T590A |
probably benign |
Het |
Eif4g1 |
A |
T |
16: 20,504,270 (GRCm39) |
I1068F |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,364,849 (GRCm39) |
K639N |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,105,871 (GRCm39) |
|
probably null |
Het |
Gm35315 |
A |
C |
5: 110,227,129 (GRCm39) |
Y103* |
probably null |
Het |
Hsd17b4 |
A |
G |
18: 50,312,169 (GRCm39) |
K578R |
possibly damaging |
Het |
Ice2 |
T |
C |
9: 69,335,734 (GRCm39) |
S906P |
probably benign |
Het |
Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,615,454 (GRCm39) |
W3650R |
probably benign |
Het |
Mcoln3 |
C |
T |
3: 145,833,942 (GRCm39) |
H161Y |
probably benign |
Het |
Mphosph10 |
A |
T |
7: 64,035,567 (GRCm39) |
M368K |
probably damaging |
Het |
Msh2 |
A |
C |
17: 88,020,094 (GRCm39) |
K567Q |
possibly damaging |
Het |
N4bp3 |
T |
C |
11: 51,534,776 (GRCm39) |
E429G |
possibly damaging |
Het |
Nrxn3 |
G |
A |
12: 89,159,924 (GRCm39) |
A17T |
probably damaging |
Het |
Or2aj6 |
T |
C |
16: 19,443,773 (GRCm39) |
T26A |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,552 (GRCm39) |
Y157F |
probably benign |
Het |
P4ha2 |
G |
T |
11: 54,008,474 (GRCm39) |
R227L |
probably benign |
Het |
Pfkfb4 |
G |
A |
9: 108,838,630 (GRCm39) |
|
probably null |
Het |
Ror1 |
A |
G |
4: 100,299,303 (GRCm39) |
N892S |
probably benign |
Het |
Scn9a |
G |
T |
2: 66,313,846 (GRCm39) |
D1957E |
probably benign |
Het |
Sec24a |
A |
T |
11: 51,604,476 (GRCm39) |
Y713* |
probably null |
Het |
Serpinb1b |
T |
A |
13: 33,271,438 (GRCm39) |
F70I |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,231,460 (GRCm39) |
Y1284C |
probably damaging |
Het |
Suco |
A |
T |
1: 161,655,809 (GRCm39) |
M1030K |
possibly damaging |
Het |
Syne1 |
A |
T |
10: 5,165,667 (GRCm39) |
|
probably null |
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 |
|
R5476:Ccdc96
|
UTSW |
5 |
36,642,981 (GRCm39) |
missense |
possibly damaging |
0.83 |
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 |
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'- ATGTTGAGGTCCCGGAAAGTC -3'
(R):5'- AAACTCTTCAGTGGACGCC -3'
Sequencing Primer
(F):5'- AGAGCCAGAGAGTCTGCCAC -3'
(R):5'- AGTGGACGCCCCTTTTTG -3'
|
Posted On |
2018-06-22 |