Incidental Mutation 'R3122:Ccdc85a'
| ID |
264117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc85a
|
| Ensembl Gene |
ENSMUSG00000032878 |
| Gene Name |
coiled-coil domain containing 85A |
| Synonyms |
E030025D05Rik |
| MMRRC Submission |
040595-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.533)
|
| Stock # |
R3122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
28335685-28534324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28533499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 15
(C15F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042534]
[ENSMUST00000093253]
[ENSMUST00000109502]
[ENSMUST00000146385]
|
| AlphaFold |
Q5SP85 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042534
AA Change: C15F
|
| SMART Domains |
Protein: ENSMUSP00000044649
Gene: ENSMUSG00000032878
AA Change: C15F
| 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 |
unknown
Transcript: ENSMUST00000093253
AA Change: C15F
|
| SMART Domains |
Protein: ENSMUSP00000090941
Gene: ENSMUSG00000032878
AA Change: C15F
| 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 |
unknown
Transcript: ENSMUST00000109502
AA Change: C15F
|
| SMART Domains |
Protein: ENSMUSP00000105128
Gene: ENSMUSG00000032878
AA Change: C15F
| 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 |
unknown
Transcript: ENSMUST00000146385
AA Change: C15F
|
| SMART Domains |
Protein: ENSMUSP00000124972
Gene: ENSMUSG00000032878
AA Change: C15F
| 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 |
0.0904 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,118,248 (GRCm39) |
N8S |
possibly damaging |
Het |
| Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
| Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
| Ccbe1 |
A |
G |
18: 66,199,900 (GRCm39) |
M274T |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,456,749 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
A |
G |
7: 44,609,345 (GRCm39) |
Y715H |
probably damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,620 (GRCm39) |
F423L |
probably damaging |
Het |
| Dock3 |
C |
G |
9: 106,788,542 (GRCm39) |
A1598P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,644,170 (GRCm39) |
L37P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,045,562 (GRCm39) |
D758G |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,194 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,803,361 (GRCm39) |
M277K |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,000,265 (GRCm39) |
F329S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,918,072 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,899,425 (GRCm39) |
H375Q |
probably benign |
Het |
| Lox |
A |
G |
18: 52,658,177 (GRCm39) |
F332S |
probably damaging |
Het |
| Ltf |
G |
A |
9: 110,851,968 (GRCm39) |
C135Y |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,554 (GRCm39) |
Y347H |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,422,031 (GRCm39) |
Y387H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
C |
13: 100,545,503 (GRCm39) |
T1342A |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,453,031 (GRCm39) |
D10G |
probably benign |
Het |
| Nudt8 |
A |
G |
19: 4,052,015 (GRCm39) |
R209G |
possibly damaging |
Het |
| Or4c31 |
G |
T |
2: 88,291,853 (GRCm39) |
M75I |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,385 (GRCm39) |
V154A |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,954 (GRCm39) |
Y73N |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,213,049 (GRCm39) |
S131T |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,973,411 (GRCm39) |
I475V |
probably damaging |
Het |
| Pip |
T |
A |
6: 41,828,819 (GRCm39) |
N121K |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,384 (GRCm39) |
R222G |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,349,152 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,845 (GRCm39) |
V1745I |
possibly damaging |
Het |
| Tnfsf15 |
T |
A |
4: 63,652,522 (GRCm39) |
E96D |
probably benign |
Het |
| Vmn1r217 |
A |
G |
13: 23,298,249 (GRCm39) |
S218P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r71 |
T |
G |
7: 85,264,828 (GRCm39) |
Y53* |
probably null |
Het |
| Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,744 (GRCm39) |
D175G |
probably benign |
Het |
| Zscan2 |
G |
A |
7: 80,513,092 (GRCm39) |
A26T |
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 |
|
|
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'- CAGGCCCAATACTCACCTTG -3'
(R):5'- CTTCACCATGGAATTGCGC -3'
Sequencing Primer
(F):5'- ATCTCGCCGAGATGCAGCTG -3'
(R):5'- CCATGGAATTGCGCCGAGTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation