Incidental Mutation 'IGL01827:Cfap161'
| ID |
154687 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap161
|
| Ensembl Gene |
ENSMUSG00000011154 |
| Gene Name |
cilia and flagella associated protein 161 |
| Synonyms |
1700026D08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83423309-83444088 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83442648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 55
(Q55R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011298]
[ENSMUST00000119134]
[ENSMUST00000149671]
|
| AlphaFold |
Q6P8Y0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000011298
AA Change: Q55R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119134
AA Change: Q55R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149671
AA Change: Q30R
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
A |
T |
15: 83,112,135 (GRCm39) |
I216N |
possibly damaging |
Het |
| Catsperb |
A |
C |
12: 101,557,799 (GRCm39) |
Y790S |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,730,041 (GRCm39) |
D1148G |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Hrh3 |
T |
C |
2: 179,745,739 (GRCm39) |
N69S |
possibly damaging |
Het |
| Lipn |
A |
T |
19: 34,046,880 (GRCm39) |
I61F |
probably damaging |
Het |
| Lrwd1 |
C |
A |
5: 136,160,372 (GRCm39) |
E321* |
probably null |
Het |
| Ltk |
C |
T |
2: 119,583,219 (GRCm39) |
V343M |
probably damaging |
Het |
| Mafb |
C |
T |
2: 160,208,398 (GRCm39) |
V67M |
probably damaging |
Het |
| Nip7 |
A |
T |
8: 107,783,723 (GRCm39) |
|
probably null |
Het |
| Polrmt |
T |
C |
10: 79,573,954 (GRCm39) |
T964A |
probably damaging |
Het |
| Pygm |
A |
G |
19: 6,440,407 (GRCm39) |
T484A |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,937,287 (GRCm39) |
D10N |
probably benign |
Het |
| Tek |
A |
C |
4: 94,627,882 (GRCm39) |
D2A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,624,828 (GRCm39) |
D15250G |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,800 (GRCm39) |
H182L |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,409,930 (GRCm39) |
V1739A |
probably benign |
Het |
|
| Other mutations in Cfap161 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01999:Cfap161
|
APN |
7 |
83,440,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02291:Cfap161
|
APN |
7 |
83,440,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02444:Cfap161
|
APN |
7 |
83,425,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Cfap161
|
UTSW |
7 |
83,443,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0652:Cfap161
|
UTSW |
7 |
83,442,484 (GRCm39) |
missense |
probably null |
0.01 |
|
R1599:Cfap161
|
UTSW |
7 |
83,425,287 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1828:Cfap161
|
UTSW |
7 |
83,440,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2117:Cfap161
|
UTSW |
7 |
83,425,184 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2262:Cfap161
|
UTSW |
7 |
83,442,580 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3618:Cfap161
|
UTSW |
7 |
83,429,390 (GRCm39) |
nonsense |
probably null |
|
|
R4015:Cfap161
|
UTSW |
7 |
83,429,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5821:Cfap161
|
UTSW |
7 |
83,425,188 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6477:Cfap161
|
UTSW |
7 |
83,443,230 (GRCm39) |
nonsense |
probably null |
|
|
R6478:Cfap161
|
UTSW |
7 |
83,442,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7108:Cfap161
|
UTSW |
7 |
83,442,518 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7203:Cfap161
|
UTSW |
7 |
83,425,258 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7582:Cfap161
|
UTSW |
7 |
83,426,290 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8714:Cfap161
|
UTSW |
7 |
83,442,482 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8762:Cfap161
|
UTSW |
7 |
83,443,282 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9587:Cfap161
|
UTSW |
7 |
83,440,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Cfap161
|
UTSW |
7 |
83,442,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9702:Cfap161
|
UTSW |
7 |
83,442,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation