Incidental Mutation 'R0387:Cfap69'
| ID |
31334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
038593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0387 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5639303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 624
(K624E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148347]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054865
AA Change: K624E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: K624E
| 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 benign
Transcript: ENSMUST00000061008
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124734
|
| SMART Domains |
Protein: ENSMUSP00000119859
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
88 |
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 benign
Transcript: ENSMUST00000135252
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148347
AA Change: K206E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: K206E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
| 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
|
| Meta Mutation Damage Score |
0.1710 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,932,075 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
T |
A |
6: 142,585,230 (GRCm39) |
K825* |
probably null |
Het |
| Afp |
T |
C |
5: 90,645,150 (GRCm39) |
C189R |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,001,678 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 80,753,975 (GRCm39) |
T1652S |
possibly damaging |
Het |
| Atg4b |
C |
A |
1: 93,714,278 (GRCm39) |
Q354K |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,940,206 (GRCm39) |
S388P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,071,714 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
C |
A |
9: 107,391,080 (GRCm39) |
T403K |
probably damaging |
Het |
| Cap2 |
C |
T |
13: 46,713,992 (GRCm39) |
H79Y |
probably damaging |
Het |
| Car10 |
G |
T |
11: 93,473,847 (GRCm39) |
|
probably null |
Het |
| Ccno |
T |
C |
13: 113,126,401 (GRCm39) |
L290P |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,421,909 (GRCm39) |
M568V |
probably benign |
Het |
| Cyp1b1 |
C |
A |
17: 80,021,203 (GRCm39) |
V180L |
probably benign |
Het |
| Cyp2u1 |
G |
T |
3: 131,089,201 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
C |
T |
2: 32,210,593 (GRCm39) |
G1S |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,509 (GRCm39) |
L698P |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,517,993 (GRCm39) |
C1327F |
probably damaging |
Het |
| Dph3b-ps |
A |
G |
13: 106,683,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dpyd |
G |
A |
3: 119,220,875 (GRCm39) |
D949N |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,962,768 (GRCm39) |
K345E |
possibly damaging |
Het |
| Eml2 |
T |
A |
7: 18,916,184 (GRCm39) |
|
probably null |
Het |
| Exoc7 |
A |
G |
11: 116,185,227 (GRCm39) |
|
probably benign |
Het |
| Faah |
A |
T |
4: 115,862,889 (GRCm39) |
C113* |
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,019,776 (GRCm39) |
D16E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,879 (GRCm39) |
|
probably benign |
Het |
| Ghr |
A |
G |
15: 3,349,373 (GRCm39) |
S602P |
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,058,233 (GRCm39) |
D462G |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,000 (GRCm39) |
S66C |
probably damaging |
Het |
| Gorab |
C |
T |
1: 163,224,403 (GRCm39) |
V133M |
probably benign |
Het |
| Gria1 |
G |
A |
11: 57,200,710 (GRCm39) |
|
probably null |
Het |
| Grik1 |
T |
A |
16: 87,831,238 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,280,276 (GRCm39) |
L378P |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,275 (GRCm39) |
V215D |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,581,208 (GRCm39) |
T319A |
probably damaging |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Klrb1a |
A |
C |
6: 128,586,697 (GRCm39) |
H189Q |
possibly damaging |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,749 (GRCm39) |
T8A |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,136,748 (GRCm39) |
Y1493F |
probably benign |
Het |
| Mfsd5 |
T |
C |
15: 102,189,531 (GRCm39) |
I301T |
possibly damaging |
Het |
| Mlkl |
C |
T |
8: 112,059,982 (GRCm39) |
E135K |
probably damaging |
Het |
| Mrgprx2 |
A |
C |
7: 48,148,908 (GRCm39) |
M1R |
probably null |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,474,425 (GRCm39) |
I280V |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,192,303 (GRCm39) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,572,583 (GRCm39) |
K174R |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,883,737 (GRCm39) |
|
probably benign |
Het |
| Or8b40 |
T |
A |
9: 38,027,066 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
G |
C |
3: 94,892,051 (GRCm39) |
E256Q |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,972,979 (GRCm39) |
I739F |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,262,945 (GRCm39) |
K1031N |
probably benign |
Het |
| Plk4 |
A |
T |
3: 40,767,319 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
C |
16: 36,849,792 (GRCm39) |
C349R |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,909,679 (GRCm39) |
E2354D |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,212,903 (GRCm39) |
L278P |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,303 (GRCm39) |
I141T |
possibly damaging |
Het |
| Ptprk |
G |
A |
10: 28,230,625 (GRCm39) |
V239I |
possibly damaging |
Het |
| Raph1 |
T |
G |
1: 60,549,655 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
C |
T |
2: 167,825,692 (GRCm39) |
W755* |
probably null |
Het |
| Rnd3 |
G |
T |
2: 51,038,243 (GRCm39) |
D77E |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,782,792 (GRCm39) |
|
probably benign |
Het |
| Serpinb1a |
C |
T |
13: 33,032,721 (GRCm39) |
V63I |
probably benign |
Het |
| Six1 |
T |
G |
12: 73,092,815 (GRCm39) |
Y129S |
probably damaging |
Het |
| Spata31d1a |
G |
A |
13: 59,851,315 (GRCm39) |
T271I |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,870,058 (GRCm39) |
D1387G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,060,466 (GRCm39) |
M625K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,301,029 (GRCm39) |
S900G |
probably benign |
Het |
| Tdpoz4 |
A |
C |
3: 93,704,007 (GRCm39) |
K101N |
probably benign |
Het |
| Tigd2 |
T |
C |
6: 59,188,143 (GRCm39) |
Y337H |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,902,548 (GRCm39) |
I1134V |
probably benign |
Het |
| Tspyl5 |
A |
G |
15: 33,687,081 (GRCm39) |
I288T |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,936,663 (GRCm39) |
V61A |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,776,194 (GRCm39) |
Y381H |
probably benign |
Het |
| Zcchc9 |
T |
A |
13: 91,949,066 (GRCm39) |
M12L |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,358,953 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
T |
A |
7: 29,634,179 (GRCm39) |
T510S |
probably benign |
Het |
| Zfp808 |
A |
G |
13: 62,317,292 (GRCm39) |
T14A |
probably 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 |
|
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 |
|
|
R4932:Cfap69
|
UTSW |
5 |
5,675,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGCAGAACCTCATAAAACGGGTC -3'
(R):5'- ATGCTCATGAATGCTTGCGAATGAC -3'
Sequencing Primer
(F):5'- AAATCTGAGTTCTTTGCACGCAC -3'
(R):5'- ACTTGCTGGACATTGTTACAGTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation