Incidental Mutation 'R4436:Ccdc85a'
ID |
329539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc85a
|
Ensembl Gene |
ENSMUSG00000032878 |
Gene Name |
coiled-coil domain containing 85A |
Synonyms |
E030025D05Rik |
MMRRC Submission |
041702-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.598)
|
Stock # |
R4436 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
28335685-28534324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28526457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 384
(T384A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042534]
[ENSMUST00000093253]
[ENSMUST00000109502]
[ENSMUST00000146385]
|
AlphaFold |
Q5SP85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042534
AA Change: T384A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000044649 Gene: ENSMUSG00000032878 AA Change: T384A
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: T384A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000090941 Gene: ENSMUSG00000032878 AA Change: T384A
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: T356A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105128 Gene: ENSMUSG00000032878 AA Change: T356A
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: T384A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000124972 Gene: ENSMUSG00000032878 AA Change: T384A
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 |
0.0728 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,248,768 (GRCm39) |
I779V |
possibly damaging |
Het |
Asap1 |
T |
G |
15: 64,221,692 (GRCm39) |
D15A |
probably benign |
Het |
Ascc2 |
A |
G |
11: 4,606,305 (GRCm39) |
D193G |
probably damaging |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,095,276 (GRCm39) |
I1941V |
probably benign |
Het |
Cd86 |
T |
C |
16: 36,441,194 (GRCm39) |
N91S |
probably benign |
Het |
Cdk17 |
T |
A |
10: 93,047,758 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
C |
7: 83,636,637 (GRCm39) |
D332G |
probably null |
Het |
Ces2f |
G |
A |
8: 105,679,788 (GRCm39) |
R427H |
probably benign |
Het |
Clec4a2 |
G |
A |
6: 123,105,013 (GRCm39) |
|
probably null |
Het |
Coa8 |
T |
A |
12: 111,717,642 (GRCm39) |
D167E |
probably benign |
Het |
Coq9 |
T |
C |
8: 95,579,743 (GRCm39) |
F198L |
probably benign |
Het |
Ddx24 |
C |
A |
12: 103,390,233 (GRCm39) |
A253S |
probably damaging |
Het |
Esyt3 |
A |
T |
9: 99,240,078 (GRCm39) |
|
probably benign |
Het |
Fat2 |
C |
A |
11: 55,187,024 (GRCm39) |
G1274V |
probably damaging |
Het |
Ggn |
A |
T |
7: 28,870,976 (GRCm39) |
T132S |
probably damaging |
Het |
Gm11568 |
T |
A |
11: 99,749,421 (GRCm39) |
C209S |
unknown |
Het |
Gm6931 |
T |
A |
16: 49,245,225 (GRCm39) |
|
noncoding transcript |
Het |
Gpr20 |
C |
T |
15: 73,567,649 (GRCm39) |
V247I |
probably benign |
Het |
Grm8 |
A |
T |
6: 27,761,237 (GRCm39) |
V329E |
possibly damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,223,808 (GRCm39) |
L114P |
possibly damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hivep3 |
C |
T |
4: 119,953,120 (GRCm39) |
P479S |
probably benign |
Het |
Igkv6-20 |
A |
G |
6: 70,313,104 (GRCm39) |
V23A |
probably damaging |
Het |
Ikbip |
T |
A |
10: 90,937,751 (GRCm39) |
N141K |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,476,124 (GRCm39) |
E815G |
probably damaging |
Het |
Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,202,502 (GRCm39) |
C1050S |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,421,135 (GRCm39) |
I40V |
probably benign |
Het |
Or2h2b-ps1 |
A |
G |
17: 37,480,727 (GRCm39) |
F271L |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,100,246 (GRCm39) |
M1885V |
probably damaging |
Het |
Plek |
A |
G |
11: 16,942,972 (GRCm39) |
Y107H |
probably damaging |
Het |
Ppp1r15a |
C |
T |
7: 45,174,203 (GRCm39) |
V202M |
probably damaging |
Het |
Ppp1r3e |
C |
A |
14: 55,114,007 (GRCm39) |
A222S |
probably benign |
Het |
Rac2 |
G |
T |
15: 78,454,943 (GRCm39) |
Y32* |
probably null |
Het |
Sdf4 |
T |
G |
4: 156,093,404 (GRCm39) |
|
probably null |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Spic |
T |
A |
10: 88,512,817 (GRCm39) |
R111S |
probably benign |
Het |
Ssh3 |
A |
G |
19: 4,315,394 (GRCm39) |
F315L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,595,253 (GRCm39) |
K11972R |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,439,745 (GRCm39) |
S30F |
probably benign |
Het |
Vmn1r17 |
G |
C |
6: 57,337,719 (GRCm39) |
I166M |
possibly damaging |
Het |
Vmn2r94 |
T |
C |
17: 18,478,645 (GRCm39) |
Y34C |
probably damaging |
Het |
Xpo7 |
G |
A |
14: 70,906,869 (GRCm39) |
T945M |
probably damaging |
Het |
Zfp316 |
C |
A |
5: 143,239,803 (GRCm39) |
A739S |
probably damaging |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
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 |
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'- AATGTTAGGTCTCCTATCTACCCG -3'
(R):5'- ATTTCCAGAAGCATAGGCCAGG -3'
Sequencing Primer
(F):5'- TACCCGCCCCTTAGCCAAAG -3'
(R):5'- CACACCAGGCACAGTGGAG -3'
|
Posted On |
2015-07-21 |