Incidental Mutation 'R0392:Ccdc61'
ID |
31755 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc61
|
Ensembl Gene |
ENSMUSG00000074358 |
Gene Name |
coiled-coil domain containing 61 |
Synonyms |
C530028I08Rik, LOC232933 |
MMRRC Submission |
038598-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
R0392 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18624808-18644340 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18625027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 504
(M504V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032573]
[ENSMUST00000098780]
[ENSMUST00000133506]
[ENSMUST00000135467]
|
AlphaFold |
Q3UJV1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032573
|
SMART Domains |
Protein: ENSMUSP00000032573 Gene: ENSMUSG00000030413
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
PGRP
|
18 |
161 |
8.93e-75 |
SMART |
Ami_2
|
29 |
167 |
5.11e-42 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098780
AA Change: M504V
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096377 Gene: ENSMUSG00000074358 AA Change: M504V
Domain | Start | End | E-Value | Type |
coiled coil region
|
173 |
206 |
N/A |
INTRINSIC |
low complexity region
|
217 |
242 |
N/A |
INTRINSIC |
coiled coil region
|
243 |
280 |
N/A |
INTRINSIC |
low complexity region
|
290 |
332 |
N/A |
INTRINSIC |
low complexity region
|
350 |
383 |
N/A |
INTRINSIC |
low complexity region
|
400 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133506
|
SMART Domains |
Protein: ENSMUSP00000123152 Gene: ENSMUSG00000074358
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
57 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135467
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206206
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206499
AA Change: M256V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206569
|
Meta Mutation Damage Score |
0.1054 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
Validation Efficiency |
100% (31/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
Other mutations in Ccdc61 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01933:Ccdc61
|
APN |
7 |
18,626,483 (GRCm39) |
missense |
probably benign |
|
IGL02029:Ccdc61
|
APN |
7 |
18,637,423 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Ccdc61
|
APN |
7 |
18,627,227 (GRCm39) |
missense |
probably benign |
0.03 |
I0000:Ccdc61
|
UTSW |
7 |
18,637,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Ccdc61
|
UTSW |
7 |
18,626,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Ccdc61
|
UTSW |
7 |
18,626,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Ccdc61
|
UTSW |
7 |
18,637,400 (GRCm39) |
missense |
probably benign |
0.02 |
R1740:Ccdc61
|
UTSW |
7 |
18,637,862 (GRCm39) |
splice site |
probably benign |
|
R2230:Ccdc61
|
UTSW |
7 |
18,625,032 (GRCm39) |
missense |
probably damaging |
0.98 |
R5964:Ccdc61
|
UTSW |
7 |
18,634,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R6345:Ccdc61
|
UTSW |
7 |
18,643,914 (GRCm39) |
splice site |
probably null |
|
R6893:Ccdc61
|
UTSW |
7 |
18,626,488 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7466:Ccdc61
|
UTSW |
7 |
18,625,030 (GRCm39) |
missense |
probably damaging |
0.99 |
R9224:Ccdc61
|
UTSW |
7 |
18,637,746 (GRCm39) |
missense |
probably benign |
0.03 |
R9588:Ccdc61
|
UTSW |
7 |
18,644,266 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCACAGTTAGCACTGTCAACCCC -3'
(R):5'- TCCTCAGATTCAGAAGTCCCCGTG -3'
Sequencing Primer
(F):5'- CTTGAATCACACACTAGGGGGTC -3'
(R):5'- GTCCCTATTAAAGGTGAGCCCAG -3'
|
Posted On |
2013-04-24 |