Incidental Mutation 'R4932:Cfap69'
| ID |
380620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5675820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 265
(L265F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054865
AA Change: L265F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: L265F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061008
AA Change: L265F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: L265F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132510
|
| SMART Domains |
Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135252
AA Change: L265F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: L265F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150140
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196165
AA Change: L265F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: L265F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199314
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit faster response kinetics and stimuli integration to olfactory stimulation and impaired olfaction a buried food pellet test with a background of the same odor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,342 (GRCm39) |
V616E |
possibly damaging |
Het |
| Adam21 |
A |
G |
12: 81,605,692 (GRCm39) |
V690A |
probably benign |
Het |
| Afg3l1 |
A |
T |
8: 124,228,119 (GRCm39) |
T635S |
probably damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,890,700 (GRCm39) |
M390K |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,734,053 (GRCm39) |
|
probably null |
Het |
| Antkmt |
T |
G |
17: 26,010,652 (GRCm39) |
|
probably null |
Het |
| Arhgef3 |
A |
T |
14: 27,106,170 (GRCm39) |
K151N |
probably damaging |
Het |
| Ccr3 |
T |
G |
9: 123,829,043 (GRCm39) |
F126C |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,695,175 (GRCm39) |
D170G |
possibly damaging |
Het |
| Celsr2 |
T |
A |
3: 108,310,074 (GRCm39) |
D1552V |
probably damaging |
Het |
| Chrna9 |
C |
T |
5: 66,126,533 (GRCm39) |
R92* |
probably null |
Het |
| Cog3 |
A |
T |
14: 75,970,394 (GRCm39) |
V341D |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,073,779 (GRCm39) |
R2072L |
probably damaging |
Het |
| Dbf4 |
G |
T |
5: 8,448,039 (GRCm39) |
H390Q |
probably benign |
Het |
| Dcaf4 |
T |
A |
12: 83,579,078 (GRCm39) |
C166S |
possibly damaging |
Het |
| Dclk3 |
T |
A |
9: 111,297,110 (GRCm39) |
L218Q |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,069,603 (GRCm39) |
W643R |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,674,008 (GRCm39) |
K1091E |
probably damaging |
Het |
| Dis3 |
T |
A |
14: 99,326,340 (GRCm39) |
H415L |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,542,737 (GRCm39) |
I2478F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Doc2a |
T |
C |
7: 126,447,752 (GRCm39) |
|
probably benign |
Het |
| Dph5 |
A |
T |
3: 115,693,456 (GRCm39) |
M125L |
probably benign |
Het |
| Dst |
A |
T |
1: 34,267,764 (GRCm39) |
T5247S |
possibly damaging |
Het |
| Eno4 |
T |
G |
19: 58,952,889 (GRCm39) |
V477G |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,711 (GRCm39) |
I207V |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,061,352 (GRCm39) |
S4312T |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,843,007 (GRCm39) |
D126G |
probably damaging |
Het |
| Fgfr4 |
A |
G |
13: 55,315,983 (GRCm39) |
T799A |
unknown |
Het |
| Gcn1 |
A |
T |
5: 115,730,203 (GRCm39) |
D839V |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,331,158 (GRCm39) |
V383A |
probably benign |
Het |
| Gpt |
T |
C |
15: 76,583,040 (GRCm39) |
V361A |
probably benign |
Het |
| Hepacam |
G |
A |
9: 37,293,060 (GRCm39) |
C217Y |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,660,151 (GRCm39) |
Y382N |
probably damaging |
Het |
| Htr2a |
T |
A |
14: 74,879,462 (GRCm39) |
N30K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,872,299 (GRCm39) |
M70K |
possibly damaging |
Het |
| Lrrc19 |
T |
C |
4: 94,529,174 (GRCm39) |
Y36C |
probably damaging |
Het |
| Madcam1 |
C |
T |
10: 79,501,447 (GRCm39) |
Q171* |
probably null |
Het |
| Mcm8 |
G |
A |
2: 132,680,629 (GRCm39) |
M544I |
probably benign |
Het |
| Mdga1 |
C |
T |
17: 30,076,580 (GRCm39) |
G64E |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,446,994 (GRCm39) |
D58G |
probably benign |
Het |
| Ms4a10 |
T |
C |
19: 10,942,132 (GRCm39) |
Y123C |
probably damaging |
Het |
| Ms4a4d |
T |
A |
19: 11,535,296 (GRCm39) |
I198K |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,930,241 (GRCm39) |
D112V |
probably benign |
Het |
| N4bp2l2 |
A |
C |
5: 150,566,606 (GRCm39) |
S567R |
probably benign |
Het |
| Ndufaf2 |
A |
G |
13: 108,295,010 (GRCm39) |
Y32H |
probably damaging |
Het |
| Nup153 |
T |
A |
13: 46,866,213 (GRCm39) |
K182* |
probably null |
Het |
| Or4c100 |
A |
G |
2: 88,356,079 (GRCm39) |
T51A |
probably benign |
Het |
| Or52p2 |
A |
G |
7: 102,237,623 (GRCm39) |
F109S |
probably damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,781 (GRCm39) |
V260E |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,754,358 (GRCm39) |
S928P |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,496 (GRCm39) |
D295G |
probably benign |
Het |
| P4ha2 |
C |
A |
11: 54,015,846 (GRCm39) |
T411K |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,333,822 (GRCm39) |
Q865L |
probably benign |
Het |
| Prepl |
G |
T |
17: 85,385,932 (GRCm39) |
T244K |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,388,103 (GRCm39) |
K776* |
probably null |
Het |
| Rc3h2 |
T |
C |
2: 37,279,844 (GRCm39) |
K462E |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,516,940 (GRCm39) |
|
probably null |
Het |
| Serpinb1c |
A |
G |
13: 33,066,147 (GRCm39) |
V266A |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,433,861 (GRCm39) |
N326Y |
probably damaging |
Het |
| Spcs2 |
C |
T |
7: 99,508,038 (GRCm39) |
G16D |
possibly damaging |
Het |
| Spns3 |
T |
C |
11: 72,390,321 (GRCm39) |
D441G |
possibly damaging |
Het |
| Srsf4 |
A |
G |
4: 131,618,556 (GRCm39) |
D49G |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,917,736 (GRCm39) |
C494* |
probably null |
Het |
| Tecpr1 |
A |
T |
5: 144,141,476 (GRCm39) |
Y798N |
probably damaging |
Het |
| Tex56 |
A |
T |
13: 35,116,613 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmt1a |
T |
A |
15: 100,202,987 (GRCm39) |
F87Y |
probably benign |
Het |
| Trim56 |
C |
T |
5: 137,143,343 (GRCm39) |
E58K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,626,478 (GRCm39) |
D13146E |
probably damaging |
Het |
| Ube2q1 |
A |
T |
3: 89,686,790 (GRCm39) |
K46* |
probably null |
Het |
| Ucn |
G |
T |
5: 31,295,842 (GRCm39) |
T8K |
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,830,870 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
T |
4: 137,343,144 (GRCm39) |
Q430L |
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,343,145 (GRCm39) |
|
probably null |
Het |
| Vill |
A |
T |
9: 118,890,579 (GRCm39) |
D164V |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,751 (GRCm39) |
M806K |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,750,970 (GRCm39) |
Y2256F |
probably damaging |
Het |
| Wsb1 |
A |
G |
11: 79,141,826 (GRCm39) |
S64P |
probably damaging |
Het |
| Zc3h11a |
C |
A |
1: 133,552,350 (GRCm39) |
V586F |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,729,014 (GRCm39) |
D126G |
probably damaging |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp442 |
T |
A |
2: 150,251,635 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp82 |
T |
A |
7: 29,756,312 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
Het |
|
| Other mutations in Cfap69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Cfap69
|
APN |
5 |
5,634,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00234:Cfap69
|
APN |
5 |
5,667,295 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00658:Cfap69
|
APN |
5 |
5,675,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00901:Cfap69
|
APN |
5 |
5,669,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL01410:Cfap69
|
APN |
5 |
5,696,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Cfap69
|
APN |
5 |
5,696,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01839:Cfap69
|
APN |
5 |
5,676,027 (GRCm39) |
nonsense |
probably null |
|
|
IGL01993:Cfap69
|
APN |
5 |
5,631,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02821:Cfap69
|
APN |
5 |
5,714,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03212:Cfap69
|
APN |
5 |
5,707,849 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03339:Cfap69
|
APN |
5 |
5,636,436 (GRCm39) |
splice site |
probably benign |
|
|
IGL03052:Cfap69
|
UTSW |
5 |
5,639,206 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0049:Cfap69
|
UTSW |
5 |
5,663,734 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0049:Cfap69
|
UTSW |
5 |
5,663,734 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0387:Cfap69
|
UTSW |
5 |
5,639,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0433:Cfap69
|
UTSW |
5 |
5,699,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0690:Cfap69
|
UTSW |
5 |
5,713,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0702:Cfap69
|
UTSW |
5 |
5,694,465 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0718:Cfap69
|
UTSW |
5 |
5,671,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Cfap69
|
UTSW |
5 |
5,690,230 (GRCm39) |
splice site |
probably null |
|
|
R1670:Cfap69
|
UTSW |
5 |
5,636,409 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1677:Cfap69
|
UTSW |
5 |
5,632,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Cfap69
|
UTSW |
5 |
5,632,518 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1916:Cfap69
|
UTSW |
5 |
5,713,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Cfap69
|
UTSW |
5 |
5,643,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Cfap69
|
UTSW |
5 |
5,654,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Cfap69
|
UTSW |
5 |
5,645,979 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2177:Cfap69
|
UTSW |
5 |
5,675,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Cfap69
|
UTSW |
5 |
5,646,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2939:Cfap69
|
UTSW |
5 |
5,694,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3706:Cfap69
|
UTSW |
5 |
5,663,843 (GRCm39) |
nonsense |
probably null |
|
|
R3876:Cfap69
|
UTSW |
5 |
5,634,645 (GRCm39) |
splice site |
probably benign |
|
|
R3893:Cfap69
|
UTSW |
5 |
5,631,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4033:Cfap69
|
UTSW |
5 |
5,654,389 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4760:Cfap69
|
UTSW |
5 |
5,696,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Cfap69
|
UTSW |
5 |
5,696,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5215:Cfap69
|
UTSW |
5 |
5,639,133 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5258:Cfap69
|
UTSW |
5 |
5,654,271 (GRCm39) |
splice site |
probably null |
|
|
R5596:Cfap69
|
UTSW |
5 |
5,676,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5673:Cfap69
|
UTSW |
5 |
5,646,027 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5752:Cfap69
|
UTSW |
5 |
5,639,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Cfap69
|
UTSW |
5 |
5,690,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Cfap69
|
UTSW |
5 |
5,713,996 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6511:Cfap69
|
UTSW |
5 |
5,667,220 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6550:Cfap69
|
UTSW |
5 |
5,631,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6870:Cfap69
|
UTSW |
5 |
5,671,958 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7455:Cfap69
|
UTSW |
5 |
5,675,873 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7544:Cfap69
|
UTSW |
5 |
5,645,936 (GRCm39) |
missense |
not run |
|
|
R7547:Cfap69
|
UTSW |
5 |
5,654,290 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7787:Cfap69
|
UTSW |
5 |
5,639,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Cfap69
|
UTSW |
5 |
5,669,085 (GRCm39) |
intron |
probably benign |
|
|
R8110:Cfap69
|
UTSW |
5 |
5,632,515 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8128:Cfap69
|
UTSW |
5 |
5,646,034 (GRCm39) |
missense |
probably benign |
|
|
R8306:Cfap69
|
UTSW |
5 |
5,654,287 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9028:Cfap69
|
UTSW |
5 |
5,696,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9106:Cfap69
|
UTSW |
5 |
5,690,190 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9179:Cfap69
|
UTSW |
5 |
5,676,064 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9199:Cfap69
|
UTSW |
5 |
5,668,952 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9422:Cfap69
|
UTSW |
5 |
5,699,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9585:Cfap69
|
UTSW |
5 |
5,631,269 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9617:Cfap69
|
UTSW |
5 |
5,639,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Cfap69
|
UTSW |
5 |
5,697,021 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9697:Cfap69
|
UTSW |
5 |
5,676,041 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
X0010:Cfap69
|
UTSW |
5 |
5,694,503 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Cfap69
|
UTSW |
5 |
5,636,384 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCAGCCTTCAGATGAATCAG -3'
(R):5'- AAAGTCCTGCAGCATCTCTC -3'
Sequencing Primer
(F):5'- AGCCTTCAGATGAATCAGAATTTAAC -3'
(R):5'- AGCATCTCTCTACTTCTGGTGTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation