Incidental Mutation 'R5672:Cfap68'
ID |
442680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap68
|
Ensembl Gene |
ENSMUSG00000037971 |
Gene Name |
cilia and flagella associated protein 68 |
Synonyms |
1110032A03Rik |
MMRRC Submission |
043174-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5672 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
50672674-50679536 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50675227 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042391]
[ENSMUST00000042468]
[ENSMUST00000042576]
[ENSMUST00000176145]
[ENSMUST00000176238]
[ENSMUST00000177546]
[ENSMUST00000176335]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042391
|
SMART Domains |
Protein: ENSMUSP00000037082 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
Pfam:DUF2431
|
7 |
176 |
1.4e-44 |
PFAM |
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
SCOP:d1jjca_
|
487 |
516 |
6e-4 |
SMART |
FDX-ACB
|
528 |
622 |
5.88e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042468
AA Change: T144A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000041803 Gene: ENSMUSG00000037971 AA Change: T144A
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
1 |
149 |
7.7e-107 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042576
AA Change: T160A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000046890 Gene: ENSMUSG00000037971 AA Change: T160A
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
15 |
164 |
1.8e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176145
|
SMART Domains |
Protein: ENSMUSP00000135796 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
Pfam:DUF2431
|
7 |
115 |
4.2e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176160
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176238
AA Change: T121A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000135679 Gene: ENSMUSG00000037971 AA Change: T121A
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
1 |
70 |
4.2e-47 |
PFAM |
Pfam:DUF1143
|
68 |
126 |
5.3e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177546
AA Change: T67A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000134870 Gene: ENSMUSG00000037971 AA Change: T67A
Domain | Start | End | E-Value | Type |
Pfam:DUF1143
|
13 |
72 |
3.3e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176682
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176335
|
SMART Domains |
Protein: ENSMUSP00000135658 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
SCOP:d1jjca_
|
285 |
314 |
3e-4 |
SMART |
FDX-ACB
|
326 |
420 |
5.88e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
A |
G |
9: 99,502,383 (GRCm39) |
N181S |
possibly damaging |
Het |
Abcf3 |
A |
T |
16: 20,368,002 (GRCm39) |
Q74L |
probably benign |
Het |
Ankrd13c |
T |
C |
3: 157,666,664 (GRCm39) |
|
probably null |
Het |
Bub1 |
A |
G |
2: 127,646,800 (GRCm39) |
F827L |
possibly damaging |
Het |
Cyp2c55 |
A |
G |
19: 39,023,990 (GRCm39) |
I355V |
probably benign |
Het |
Dido1 |
A |
G |
2: 180,313,696 (GRCm39) |
S319P |
probably damaging |
Het |
Efna5 |
A |
T |
17: 63,188,025 (GRCm39) |
V34D |
probably damaging |
Het |
Fam131a |
G |
T |
16: 20,518,389 (GRCm39) |
E88D |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,817,838 (GRCm39) |
R4524* |
probably null |
Het |
Gm6899 |
C |
T |
11: 26,543,484 (GRCm39) |
|
probably benign |
Het |
Iqcg |
C |
T |
16: 32,839,878 (GRCm39) |
R356Q |
probably damaging |
Het |
Itgae |
T |
A |
11: 73,036,377 (GRCm39) |
I1105N |
possibly damaging |
Het |
Klb |
T |
C |
5: 65,537,292 (GRCm39) |
I874T |
possibly damaging |
Het |
Klc3 |
T |
C |
7: 19,130,256 (GRCm39) |
Y307C |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,231,771 (GRCm39) |
H378L |
probably benign |
Het |
Mxd4 |
G |
A |
5: 34,335,044 (GRCm39) |
R114C |
probably damaging |
Het |
Nrdc |
A |
T |
4: 108,895,242 (GRCm39) |
R241* |
probably null |
Het |
Ofcc1 |
G |
A |
13: 40,433,905 (GRCm39) |
H67Y |
probably damaging |
Het |
Or10ak9 |
A |
G |
4: 118,726,379 (GRCm39) |
T134A |
possibly damaging |
Het |
Or5p5 |
A |
G |
7: 107,413,844 (GRCm39) |
T18A |
probably damaging |
Het |
Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
Pard3b |
G |
T |
1: 62,049,625 (GRCm39) |
A128S |
probably benign |
Het |
Plat |
T |
C |
8: 23,263,664 (GRCm39) |
Y188H |
probably benign |
Het |
Pop1 |
A |
G |
15: 34,530,325 (GRCm39) |
K908E |
possibly damaging |
Het |
Pten |
A |
G |
19: 32,735,866 (GRCm39) |
I8V |
probably benign |
Het |
Pwwp2a |
C |
T |
11: 43,596,968 (GRCm39) |
A436V |
probably damaging |
Het |
Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 142,173,900 (GRCm39) |
C2023R |
possibly damaging |
Het |
Serpina1d |
A |
C |
12: 103,730,101 (GRCm39) |
D360E |
possibly damaging |
Het |
Serpinb9b |
A |
G |
13: 33,223,582 (GRCm39) |
D258G |
probably benign |
Het |
Smgc |
G |
A |
15: 91,726,108 (GRCm39) |
S18N |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,410,157 (GRCm39) |
|
probably null |
Het |
Spem1 |
T |
G |
11: 69,712,263 (GRCm39) |
K134Q |
probably damaging |
Het |
Srgap3 |
T |
A |
6: 112,752,522 (GRCm39) |
M321L |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,602,697 (GRCm39) |
C163R |
possibly damaging |
Het |
Ube2ql1 |
A |
T |
13: 69,887,446 (GRCm39) |
L5H |
unknown |
Het |
Ubn2 |
T |
C |
6: 38,438,462 (GRCm39) |
I225T |
probably damaging |
Het |
Vmn1r181 |
A |
C |
7: 23,683,741 (GRCm39) |
T69P |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,816,494 (GRCm39) |
F10L |
probably benign |
Het |
Yeats2 |
T |
C |
16: 19,980,779 (GRCm39) |
M236T |
probably damaging |
Het |
|
Other mutations in Cfap68 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1535:Cfap68
|
UTSW |
9 |
50,675,307 (GRCm39) |
missense |
probably damaging |
0.97 |
R2145:Cfap68
|
UTSW |
9 |
50,676,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R3748:Cfap68
|
UTSW |
9 |
50,677,050 (GRCm39) |
missense |
probably benign |
0.00 |
R5258:Cfap68
|
UTSW |
9 |
50,675,633 (GRCm39) |
intron |
probably benign |
|
R5337:Cfap68
|
UTSW |
9 |
50,677,049 (GRCm39) |
missense |
probably benign |
|
R5408:Cfap68
|
UTSW |
9 |
50,676,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R6242:Cfap68
|
UTSW |
9 |
50,675,215 (GRCm39) |
missense |
probably benign |
0.00 |
R6326:Cfap68
|
UTSW |
9 |
50,676,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7440:Cfap68
|
UTSW |
9 |
50,676,213 (GRCm39) |
missense |
probably benign |
0.01 |
R7908:Cfap68
|
UTSW |
9 |
50,675,248 (GRCm39) |
missense |
possibly damaging |
0.73 |
RF008:Cfap68
|
UTSW |
9 |
50,677,067 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Cfap68
|
UTSW |
9 |
50,679,519 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2016-11-09 |