Incidental Mutation 'IGL00795:Ccdc91'
| ID |
12516 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc91
|
| Ensembl Gene |
ENSMUSG00000030301 |
| Gene Name |
coiled-coil domain containing 91 |
| Synonyms |
p56, 1810060J02Rik, 1700086G08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL00795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
147377326-147534110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 147409305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 4
(D4Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032441]
[ENSMUST00000156106]
[ENSMUST00000203659]
|
| AlphaFold |
Q9D8L5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000032441
AA Change: D4Y
|
| SMART Domains |
Protein: ENSMUSP00000032441
Gene: ENSMUSG00000030301
AA Change: D4Y
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
130 |
207 |
N/A |
INTRINSIC |
|
coiled coil region
|
253 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
365 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156106
AA Change: D4Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203659
AA Change: D4Y
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,007,353 (GRCm39) |
N308S |
probably damaging |
Het |
| Bub1 |
A |
G |
2: 127,663,735 (GRCm39) |
V222A |
probably benign |
Het |
| Defb21 |
A |
G |
2: 152,416,665 (GRCm39) |
D47G |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,984,460 (GRCm39) |
C1607F |
probably benign |
Het |
| Hycc2 |
C |
T |
1: 58,591,338 (GRCm39) |
E102K |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,441,389 (GRCm39) |
L401P |
probably damaging |
Het |
| Kif18a |
A |
T |
2: 109,123,365 (GRCm39) |
N213I |
probably damaging |
Het |
| Mapre1 |
A |
G |
2: 153,588,234 (GRCm39) |
D19G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,812,434 (GRCm39) |
I32N |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,888,191 (GRCm39) |
T295S |
probably damaging |
Het |
| Pum3 |
T |
A |
19: 27,399,758 (GRCm39) |
Y225F |
probably damaging |
Het |
| Tas2r131 |
G |
A |
6: 132,934,554 (GRCm39) |
T85I |
possibly damaging |
Het |
| Tbcd |
T |
G |
11: 121,507,758 (GRCm39) |
I1193S |
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,235 (GRCm39) |
A82T |
probably benign |
Het |
|
| Other mutations in Ccdc91 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Ccdc91
|
APN |
6 |
147,508,452 (GRCm39) |
missense |
unknown |
|
|
IGL00497:Ccdc91
|
APN |
6 |
147,508,485 (GRCm39) |
missense |
unknown |
|
|
R1495:Ccdc91
|
UTSW |
6 |
147,435,670 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1725:Ccdc91
|
UTSW |
6 |
147,493,541 (GRCm39) |
missense |
unknown |
|
|
R3761:Ccdc91
|
UTSW |
6 |
147,464,200 (GRCm39) |
missense |
unknown |
|
|
R4246:Ccdc91
|
UTSW |
6 |
147,493,646 (GRCm39) |
missense |
unknown |
|
|
R4591:Ccdc91
|
UTSW |
6 |
147,491,963 (GRCm39) |
missense |
unknown |
|
|
R4797:Ccdc91
|
UTSW |
6 |
147,493,641 (GRCm39) |
missense |
unknown |
|
|
R5719:Ccdc91
|
UTSW |
6 |
147,477,001 (GRCm39) |
missense |
unknown |
|
|
R5721:Ccdc91
|
UTSW |
6 |
147,477,001 (GRCm39) |
missense |
unknown |
|
|
R6092:Ccdc91
|
UTSW |
6 |
147,437,114 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7156:Ccdc91
|
UTSW |
6 |
147,435,676 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7393:Ccdc91
|
UTSW |
6 |
147,435,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7411:Ccdc91
|
UTSW |
6 |
147,493,696 (GRCm39) |
nonsense |
probably null |
|
|
R7576:Ccdc91
|
UTSW |
6 |
147,491,957 (GRCm39) |
missense |
unknown |
|
|
R8165:Ccdc91
|
UTSW |
6 |
147,533,086 (GRCm39) |
missense |
unknown |
|
|
R8311:Ccdc91
|
UTSW |
6 |
147,437,114 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8406:Ccdc91
|
UTSW |
6 |
147,438,920 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8748:Ccdc91
|
UTSW |
6 |
147,464,194 (GRCm39) |
missense |
unknown |
|
|
R8922:Ccdc91
|
UTSW |
6 |
147,412,358 (GRCm39) |
nonsense |
probably null |
|
|
R9210:Ccdc91
|
UTSW |
6 |
147,508,398 (GRCm39) |
missense |
unknown |
|
|
R9212:Ccdc91
|
UTSW |
6 |
147,508,398 (GRCm39) |
missense |
unknown |
|
|
X0027:Ccdc91
|
UTSW |
6 |
147,492,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation