Incidental Mutation 'R3021:Ccdc85a'
| ID |
257748 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3021 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
28335685-28534324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28526894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 210
(E210G)
|
| 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: E238G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044649
Gene: ENSMUSG00000032878
AA Change: E238G
| 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: E238G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090941
Gene: ENSMUSG00000032878
AA Change: E238G
| 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: E210G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105128
Gene: ENSMUSG00000032878
AA Change: E210G
| 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: E238G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124972
Gene: ENSMUSG00000032878
AA Change: E238G
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1c1 |
T |
C |
15: 38,689,460 (GRCm39) |
V307A |
possibly damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,381,180 (GRCm39) |
|
probably null |
Het |
| Eng |
T |
C |
2: 32,568,580 (GRCm39) |
V474A |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,390,625 (GRCm39) |
D303G |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,497,048 (GRCm39) |
C4178S |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
A |
T |
8: 82,629,467 (GRCm39) |
E267D |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,051,046 (GRCm39) |
K578E |
possibly damaging |
Het |
| Mttp |
T |
C |
3: 137,817,464 (GRCm39) |
M444V |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,933,118 (GRCm39) |
S229P |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,449,588 (GRCm39) |
V144E |
possibly damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,573,921 (GRCm39) |
Y271* |
probably null |
Het |
| Pramel31 |
T |
A |
4: 144,088,369 (GRCm39) |
M55K |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,415,632 (GRCm39) |
|
probably null |
Het |
| Rdh1 |
G |
A |
10: 127,596,077 (GRCm39) |
V91M |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smad2 |
T |
G |
18: 76,395,703 (GRCm39) |
S47R |
probably damaging |
Het |
| Smchd1 |
G |
T |
17: 71,694,093 (GRCm39) |
S1217R |
possibly damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCACTCAACACGTGCTTG -3'
(R):5'- ACTCTGCATGTTGCTGGAC -3'
Sequencing Primer
(F):5'- AGCACTTCTGGGCTGCTC -3'
(R):5'- CATGTTGCTGGACGAGGAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation