Incidental Mutation 'IGL00428:Ccdc71'
| ID |
6135 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc71
|
| Ensembl Gene |
ENSMUSG00000049305 |
| Gene Name |
coiled-coil domain containing 71 |
| Synonyms |
2600016J21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL00428
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108337726-108343137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108341354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 389
(T389M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061209]
[ENSMUST00000193170]
[ENSMUST00000193269]
[ENSMUST00000193286]
[ENSMUST00000193895]
|
| AlphaFold |
Q8VEG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061209
AA Change: T389M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
AA Change: T389M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC71L
|
8 |
430 |
4.7e-168 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192210
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193170
AA Change: T389M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
AA Change: T389M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC71L
|
8 |
430 |
3.1e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193269
|
| SMART Domains |
Protein: ENSMUSP00000141937
Gene: ENSMUSG00000049305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC71L
|
8 |
93 |
5.3e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193286
|
| SMART Domains |
Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
32 |
79 |
2.08e-6 |
SMART |
|
Kelch
|
80 |
127 |
1.9e-1 |
SMART |
|
Kelch
|
128 |
174 |
1.76e-4 |
SMART |
|
Kelch
|
176 |
222 |
3.74e-8 |
SMART |
|
Kelch
|
239 |
281 |
8.33e0 |
SMART |
|
Kelch
|
282 |
329 |
3.83e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193895
|
| SMART Domains |
Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
32 |
79 |
2.08e-6 |
SMART |
|
Kelch
|
80 |
127 |
1.9e-1 |
SMART |
|
Kelch
|
128 |
174 |
1.76e-4 |
SMART |
|
Kelch
|
176 |
222 |
3.74e-8 |
SMART |
|
Kelch
|
239 |
281 |
8.33e0 |
SMART |
|
Kelch
|
282 |
329 |
3.83e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
G |
A |
10: 14,343,119 (GRCm39) |
P276L |
probably benign |
Het |
| Asap1 |
G |
A |
15: 63,991,803 (GRCm39) |
|
probably benign |
Het |
| Axl |
T |
C |
7: 25,460,297 (GRCm39) |
T723A |
probably damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,876 (GRCm39) |
N3491S |
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,085,535 (GRCm39) |
K503E |
probably benign |
Het |
| Cbln4 |
A |
G |
2: 171,880,970 (GRCm39) |
V108A |
probably benign |
Het |
| Ccdc91 |
A |
G |
6: 147,508,452 (GRCm39) |
T393A |
unknown |
Het |
| Cdh20 |
A |
T |
1: 104,881,612 (GRCm39) |
H359L |
probably benign |
Het |
| Cfap119 |
A |
T |
7: 127,184,210 (GRCm39) |
S229T |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,452,500 (GRCm39) |
V364M |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,185,528 (GRCm39) |
N204K |
probably damaging |
Het |
| Dnaja3 |
C |
T |
16: 4,512,309 (GRCm39) |
R238C |
probably damaging |
Het |
| Dynlt1a |
C |
T |
17: 6,362,062 (GRCm39) |
V39I |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,478 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,455,114 (GRCm39) |
Y583C |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,402,909 (GRCm39) |
F514S |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,833,750 (GRCm39) |
C484S |
probably benign |
Het |
| Masp1 |
A |
G |
16: 23,295,062 (GRCm39) |
Y400H |
probably damaging |
Het |
| Olfml3 |
G |
A |
3: 103,644,298 (GRCm39) |
|
probably null |
Het |
| Pard3b |
T |
C |
1: 62,200,357 (GRCm39) |
S299P |
probably damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,623 (GRCm39) |
E194D |
possibly damaging |
Het |
| Pip5k1c |
A |
T |
10: 81,141,545 (GRCm39) |
T78S |
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,304,877 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,422,823 (GRCm39) |
N11D |
probably benign |
Het |
| Slc10a6 |
G |
A |
5: 103,760,362 (GRCm39) |
T211I |
probably benign |
Het |
| Smim8 |
T |
C |
4: 34,769,006 (GRCm39) |
T93A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,645,273 (GRCm39) |
I774M |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,189,351 (GRCm39) |
T58A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,424 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,177 (GRCm39) |
D210G |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
| Other mutations in Ccdc71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Ccdc71
|
APN |
9 |
108,340,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Ccdc71
|
UTSW |
9 |
108,341,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1328:Ccdc71
|
UTSW |
9 |
108,340,148 (GRCm39) |
unclassified |
probably benign |
|
|
R1415:Ccdc71
|
UTSW |
9 |
108,340,407 (GRCm39) |
nonsense |
probably null |
|
|
R4721:Ccdc71
|
UTSW |
9 |
108,340,622 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5144:Ccdc71
|
UTSW |
9 |
108,341,051 (GRCm39) |
missense |
probably benign |
|
|
R6379:Ccdc71
|
UTSW |
9 |
108,340,811 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7406:Ccdc71
|
UTSW |
9 |
108,340,523 (GRCm39) |
nonsense |
probably null |
|
|
R8097:Ccdc71
|
UTSW |
9 |
108,340,751 (GRCm39) |
missense |
probably benign |
|
|
R9577:Ccdc71
|
UTSW |
9 |
108,340,472 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2012-04-20 |
Incidental Mutation