Incidental Mutation 'IGL03408:Ccdc85a'
ID |
421671 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc85a
|
Ensembl Gene |
ENSMUSG00000032878 |
Gene Name |
coiled-coil domain containing 85A |
Synonyms |
E030025D05Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.598)
|
Stock # |
IGL03408
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
28335685-28534324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28526528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 360
(H360L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042534]
[ENSMUST00000093253]
[ENSMUST00000109502]
[ENSMUST00000146385]
|
AlphaFold |
Q5SP85 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042534
AA Change: H360L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044649 Gene: ENSMUSG00000032878 AA Change: H360L
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 damaging
Transcript: ENSMUST00000093253
AA Change: H360L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000090941 Gene: ENSMUSG00000032878 AA Change: H360L
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 |
possibly damaging
Transcript: ENSMUST00000109502
AA Change: H332L
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105128 Gene: ENSMUSG00000032878 AA Change: H332L
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 damaging
Transcript: ENSMUST00000146385
AA Change: H360L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124972 Gene: ENSMUSG00000032878 AA Change: H360L
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,303,954 (GRCm39) |
F2108I |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,783,424 (GRCm39) |
|
probably null |
Het |
Ccdc186 |
T |
C |
19: 56,787,163 (GRCm39) |
K602E |
probably benign |
Het |
Cited2 |
A |
G |
10: 17,600,148 (GRCm39) |
H152R |
possibly damaging |
Het |
Cluh |
C |
A |
11: 74,556,779 (GRCm39) |
R940S |
probably benign |
Het |
Corin |
T |
A |
5: 72,500,304 (GRCm39) |
Y432F |
probably benign |
Het |
Creb1 |
A |
G |
1: 64,615,491 (GRCm39) |
|
probably null |
Het |
Dhx15 |
A |
T |
5: 52,317,654 (GRCm39) |
D568E |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,601,447 (GRCm39) |
S253R |
probably benign |
Het |
Esam |
G |
T |
9: 37,445,949 (GRCm39) |
R162S |
possibly damaging |
Het |
Fat3 |
T |
A |
9: 15,909,253 (GRCm39) |
K2250* |
probably null |
Het |
Fbxl17 |
G |
A |
17: 63,387,541 (GRCm39) |
R133* |
probably null |
Het |
Gzmc |
C |
T |
14: 56,471,473 (GRCm39) |
G23R |
probably damaging |
Het |
Idh3a |
A |
G |
9: 54,504,206 (GRCm39) |
N189D |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,662,422 (GRCm39) |
D462E |
probably benign |
Het |
Inava |
T |
C |
1: 136,142,143 (GRCm39) |
Y652C |
probably benign |
Het |
Inpp5j |
G |
A |
11: 3,452,809 (GRCm39) |
A147V |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 34,134,546 (GRCm39) |
A412V |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,748,594 (GRCm39) |
V2968A |
probably damaging |
Het |
Morc1 |
G |
A |
16: 48,262,775 (GRCm39) |
G42R |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,784,542 (GRCm39) |
L85P |
probably benign |
Het |
Or4c52 |
G |
A |
2: 89,845,915 (GRCm39) |
V214M |
probably benign |
Het |
Or5p73 |
A |
T |
7: 108,064,554 (GRCm39) |
N8Y |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,839,865 (GRCm39) |
H524Q |
probably damaging |
Het |
Pole |
T |
C |
5: 110,442,426 (GRCm39) |
F285L |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,357,091 (GRCm39) |
M1070T |
probably benign |
Het |
Slc25a32 |
G |
A |
15: 38,963,425 (GRCm39) |
A132V |
probably benign |
Het |
Sult2a2 |
T |
G |
7: 13,472,154 (GRCm39) |
I117S |
probably damaging |
Het |
Suv39h2 |
T |
C |
2: 3,460,913 (GRCm39) |
N183S |
probably damaging |
Het |
Trhr2 |
G |
A |
8: 123,085,534 (GRCm39) |
T150M |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,396,957 (GRCm39) |
F614I |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,577,238 (GRCm39) |
|
probably benign |
Het |
Wfdc2 |
T |
A |
2: 164,405,283 (GRCm39) |
C61* |
probably null |
Het |
Zfp384 |
T |
C |
6: 125,012,676 (GRCm39) |
S377P |
probably damaging |
Het |
Zfp945 |
A |
T |
17: 23,071,511 (GRCm39) |
Y150* |
probably null |
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 |
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 |
|
R3885:Ccdc85a
|
UTSW |
11 |
28,526,677 (GRCm39) |
missense |
probably benign |
0.21 |
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 |
|
Posted On |
2016-08-02 |