Incidental Mutation 'R3885:Ccdc85a'
ID |
308717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc85a
|
Ensembl Gene |
ENSMUSG00000032878 |
Gene Name |
coiled-coil domain containing 85A |
Synonyms |
E030025D05Rik |
MMRRC Submission |
040905-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.598)
|
Stock # |
R3885 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
28335685-28534324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28526677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 310
(E310D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042534]
[ENSMUST00000093253]
[ENSMUST00000109502]
[ENSMUST00000146385]
|
AlphaFold |
Q5SP85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042534
AA Change: E310D
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000044649 Gene: ENSMUSG00000032878 AA Change: E310D
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
Pfam:DUF2216
|
26 |
219 |
6e-103 |
PFAM |
internal_repeat_1
|
297 |
368 |
2.42e-23 |
PROSPERO |
low complexity region
|
371 |
380 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093253
AA Change: E310D
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000090941 Gene: ENSMUSG00000032878 AA Change: E310D
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
Pfam:DUF2216
|
26 |
219 |
7.3e-103 |
PFAM |
internal_repeat_1
|
297 |
368 |
4.37e-22 |
PROSPERO |
low complexity region
|
371 |
380 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109501
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109502
AA Change: E282D
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105128 Gene: ENSMUSG00000032878 AA Change: E282D
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
Pfam:DUF2216
|
26 |
225 |
2.1e-85 |
PFAM |
internal_repeat_1
|
269 |
340 |
3.64e-23 |
PROSPERO |
low complexity region
|
343 |
352 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140601
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146385
AA Change: E310D
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124972 Gene: ENSMUSG00000032878 AA Change: E310D
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
Pfam:DUF2216
|
28 |
219 |
1.4e-100 |
PFAM |
internal_repeat_1
|
297 |
368 |
7.15e-22 |
PROSPERO |
low complexity region
|
371 |
380 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1123 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak8 |
G |
A |
2: 28,623,897 (GRCm39) |
V161I |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,734,866 (GRCm39) |
I792F |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Boc |
T |
C |
16: 44,307,976 (GRCm39) |
|
probably benign |
Het |
Bptf |
G |
A |
11: 106,965,339 (GRCm39) |
T1170M |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,881,876 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
Eif2s1 |
T |
A |
12: 78,927,999 (GRCm39) |
I225N |
probably damaging |
Het |
Ephb2 |
C |
T |
4: 136,498,345 (GRCm39) |
G245S |
probably damaging |
Het |
Exoc4 |
T |
C |
6: 33,243,066 (GRCm39) |
|
probably null |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Gck |
T |
C |
11: 5,860,318 (GRCm39) |
Y108C |
probably damaging |
Het |
Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
Gm5145 |
A |
T |
17: 20,791,272 (GRCm39) |
T217S |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
Gpr150 |
T |
C |
13: 76,204,657 (GRCm39) |
Q96R |
probably damaging |
Het |
H2ac22 |
A |
G |
13: 21,971,039 (GRCm39) |
L117P |
probably damaging |
Het |
H2ac8 |
G |
T |
13: 23,755,053 (GRCm39) |
T77K |
possibly damaging |
Het |
Itga2 |
A |
T |
13: 115,005,835 (GRCm39) |
H448Q |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,051,967 (GRCm39) |
I262V |
probably damaging |
Het |
Mgst3 |
G |
T |
1: 167,200,131 (GRCm39) |
Q135K |
probably benign |
Het |
Nrxn1 |
T |
A |
17: 90,930,899 (GRCm39) |
T766S |
probably damaging |
Het |
Or11j4 |
A |
T |
14: 50,630,326 (GRCm39) |
I38F |
probably benign |
Het |
Ovch2 |
A |
G |
7: 107,395,775 (GRCm39) |
I81T |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,789,091 (GRCm39) |
N236Y |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
Senp7 |
A |
G |
16: 56,006,442 (GRCm39) |
E922G |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,894,991 (GRCm39) |
L843Q |
probably damaging |
Het |
Vmn2r97 |
C |
T |
17: 19,148,596 (GRCm39) |
L164F |
possibly damaging |
Het |
Wiz |
G |
T |
17: 32,576,012 (GRCm39) |
A798E |
possibly damaging |
Het |
|
Other mutations in Ccdc85a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01462:Ccdc85a
|
APN |
11 |
28,526,506 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02260:Ccdc85a
|
APN |
11 |
28,526,672 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03408:Ccdc85a
|
APN |
11 |
28,526,528 (GRCm39) |
missense |
probably damaging |
0.99 |
unter
|
UTSW |
11 |
28,527,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R0363:Ccdc85a
|
UTSW |
11 |
28,533,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Ccdc85a
|
UTSW |
11 |
28,533,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R0833:Ccdc85a
|
UTSW |
11 |
28,533,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R0836:Ccdc85a
|
UTSW |
11 |
28,533,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R1241:Ccdc85a
|
UTSW |
11 |
28,346,150 (GRCm39) |
missense |
probably benign |
0.01 |
R1395:Ccdc85a
|
UTSW |
11 |
28,533,412 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1679:Ccdc85a
|
UTSW |
11 |
28,533,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Ccdc85a
|
UTSW |
11 |
28,384,151 (GRCm39) |
missense |
probably benign |
0.26 |
R2851:Ccdc85a
|
UTSW |
11 |
28,342,942 (GRCm39) |
intron |
probably benign |
|
R2853:Ccdc85a
|
UTSW |
11 |
28,342,942 (GRCm39) |
intron |
probably benign |
|
R3021:Ccdc85a
|
UTSW |
11 |
28,526,894 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3087:Ccdc85a
|
UTSW |
11 |
28,342,857 (GRCm39) |
nonsense |
probably null |
|
R3122:Ccdc85a
|
UTSW |
11 |
28,533,499 (GRCm39) |
missense |
unknown |
|
R3863:Ccdc85a
|
UTSW |
11 |
28,527,335 (GRCm39) |
splice site |
probably null |
|
R3963:Ccdc85a
|
UTSW |
11 |
28,526,396 (GRCm39) |
missense |
probably benign |
0.02 |
R4436:Ccdc85a
|
UTSW |
11 |
28,526,457 (GRCm39) |
missense |
probably benign |
0.08 |
R5487:Ccdc85a
|
UTSW |
11 |
28,526,768 (GRCm39) |
nonsense |
probably null |
|
R5687:Ccdc85a
|
UTSW |
11 |
28,342,854 (GRCm39) |
intron |
probably benign |
|
R6246:Ccdc85a
|
UTSW |
11 |
28,526,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R6957:Ccdc85a
|
UTSW |
11 |
28,342,944 (GRCm39) |
intron |
probably benign |
|
R7142:Ccdc85a
|
UTSW |
11 |
28,527,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7307:Ccdc85a
|
UTSW |
11 |
28,349,384 (GRCm39) |
missense |
probably benign |
0.00 |
R7848:Ccdc85a
|
UTSW |
11 |
28,346,123 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8711:Ccdc85a
|
UTSW |
11 |
28,384,146 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9104:Ccdc85a
|
UTSW |
11 |
28,526,879 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Ccdc85a
|
UTSW |
11 |
28,533,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAATCCTCTTGAGCAGGCC -3'
(R):5'- CTACACAAACCCAGGGCTTCTG -3'
Sequencing Primer
(F):5'- CCACTTGCATGTTTGTGATCAG -3'
(R):5'- TGGGACCCCAGATCACTC -3'
|
Posted On |
2015-04-17 |