Incidental Mutation 'IGL01462:Ccdc85a'
| ID |
88010 |
| 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 # |
IGL01462
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
28335685-28534324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28526506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 339
(H339Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042534]
[ENSMUST00000093253]
[ENSMUST00000109502]
[ENSMUST00000146385]
|
| AlphaFold |
Q5SP85 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042534
AA Change: H367Q
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044649
Gene: ENSMUSG00000032878
AA Change: H367Q
| 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 |
possibly damaging
Transcript: ENSMUST00000093253
AA Change: H367Q
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090941
Gene: ENSMUSG00000032878
AA Change: H367Q
| 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 damaging
Transcript: ENSMUST00000109502
AA Change: H339Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105128
Gene: ENSMUSG00000032878
AA Change: H339Q
| 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 |
possibly damaging
Transcript: ENSMUST00000146385
AA Change: H367Q
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124972
Gene: ENSMUSG00000032878
AA Change: H367Q
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
A |
6: 92,871,247 (GRCm39) |
A30S |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,089,387 (GRCm39) |
T392A |
probably benign |
Het |
| Atp8b5 |
C |
A |
4: 43,368,010 (GRCm39) |
Q878K |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cog4 |
C |
T |
8: 111,592,717 (GRCm39) |
T430M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,823,274 (GRCm39) |
Y28H |
unknown |
Het |
| Cth |
A |
T |
3: 157,610,804 (GRCm39) |
Y343N |
probably damaging |
Het |
| Dctn3 |
A |
T |
4: 41,719,854 (GRCm39) |
L84* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,219,092 (GRCm39) |
I868N |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,498,681 (GRCm39) |
N133D |
possibly damaging |
Het |
| Epor |
G |
A |
9: 21,870,752 (GRCm39) |
P376L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,204,354 (GRCm39) |
V201A |
possibly damaging |
Het |
| Hdgf |
G |
A |
3: 87,821,831 (GRCm39) |
E149K |
possibly damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,034,917 (GRCm39) |
|
probably null |
Het |
| Ly6g6d |
T |
C |
17: 35,293,226 (GRCm39) |
I40V |
probably benign |
Het |
| Mlh3 |
G |
A |
12: 85,313,510 (GRCm39) |
T892I |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,011 (GRCm39) |
T304I |
probably damaging |
Het |
| Mmp28 |
T |
C |
11: 83,334,602 (GRCm39) |
D384G |
possibly damaging |
Het |
| Moxd1 |
T |
C |
10: 24,120,286 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
T |
G |
10: 29,024,254 (GRCm39) |
L390R |
probably damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,477 (GRCm39) |
V76A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,774 (GRCm39) |
R165C |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,578 (GRCm39) |
M1T |
probably null |
Het |
| Or2a57 |
A |
G |
6: 43,212,559 (GRCm39) |
T6A |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,975,485 (GRCm39) |
H694L |
possibly damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,128 (GRCm39) |
L60P |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,237,175 (GRCm39) |
V4A |
probably benign |
Het |
| Rgr |
G |
T |
14: 36,766,566 (GRCm39) |
T160K |
probably damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,787 (GRCm39) |
I205V |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,898,280 (GRCm39) |
Y150C |
probably damaging |
Het |
| Srsf9 |
T |
C |
5: 115,470,187 (GRCm39) |
S122P |
probably damaging |
Het |
| Stox1 |
T |
G |
10: 62,500,461 (GRCm39) |
I700L |
probably benign |
Het |
| Tada1 |
A |
G |
1: 166,216,294 (GRCm39) |
D165G |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,828 (GRCm39) |
S338P |
probably benign |
Het |
| Trim39 |
G |
A |
17: 36,574,617 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
G |
A |
11: 115,972,066 (GRCm39) |
A130V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,230,902 (GRCm39) |
K96E |
probably benign |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
| Other mutations in Ccdc85a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-11-18 |
Incidental Mutation