Incidental Mutation 'R0049:Cfap69'
| ID |
16111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
038343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0049 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5663734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 498
(T498A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148347]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054865
AA Change: T498A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: T498A
| 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
AA Change: T441A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: T441A
| 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 benign
Transcript: ENSMUST00000135252
AA Change: T498A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: T498A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148347
AA Change: T80A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: T80A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
AA Change: T498A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: T498A
| 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 |
0.0595 |
| Coding Region Coverage |
- 1x: 90.0%
- 3x: 87.7%
- 10x: 82.4%
- 20x: 74.6%
|
| Validation Efficiency |
89% (108/122) |
| 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 |
|---|
| A2m |
A |
T |
6: 121,615,267 (GRCm39) |
H9L |
possibly damaging |
Het |
| Aars1 |
T |
A |
8: 111,779,083 (GRCm39) |
I739K |
possibly damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,643 (GRCm39) |
I389K |
possibly damaging |
Het |
| Akap1 |
C |
A |
11: 88,730,450 (GRCm39) |
|
probably null |
Het |
| Anxa7 |
T |
C |
14: 20,512,678 (GRCm39) |
D285G |
probably damaging |
Het |
| Arhgap1 |
T |
C |
2: 91,500,514 (GRCm39) |
Y308H |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,636,500 (GRCm39) |
|
probably null |
Het |
| Atosb |
A |
T |
4: 43,036,441 (GRCm39) |
S97T |
probably benign |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,016 (GRCm39) |
R256C |
probably damaging |
Het |
| Camsap3 |
C |
A |
8: 3,648,772 (GRCm39) |
S163R |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,395,663 (GRCm39) |
E518V |
probably damaging |
Het |
| Ccdc180 |
G |
A |
4: 45,930,119 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,960 (GRCm39) |
M71V |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,304,570 (GRCm39) |
Y2263F |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,436,812 (GRCm39) |
I132F |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,212 (GRCm39) |
V468A |
probably benign |
Het |
| Crmp1 |
T |
G |
5: 37,422,617 (GRCm39) |
D141E |
possibly damaging |
Het |
| Cryz |
C |
A |
3: 154,317,189 (GRCm39) |
A136D |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,278,913 (GRCm39) |
V550A |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,353,525 (GRCm39) |
V221A |
probably benign |
Het |
| Ecm2 |
A |
T |
13: 49,677,922 (GRCm39) |
K403* |
probably null |
Het |
| Eif3d |
T |
C |
15: 77,843,924 (GRCm39) |
N474S |
probably benign |
Het |
| F12 |
T |
C |
13: 55,574,130 (GRCm39) |
D34G |
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,798,117 (GRCm39) |
F200Y |
probably damaging |
Het |
| Fgl2 |
T |
A |
5: 21,580,661 (GRCm39) |
D334E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,924,481 (GRCm39) |
F3641I |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,484,674 (GRCm39) |
Y244D |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,421,268 (GRCm39) |
D16E |
probably benign |
Het |
| Gm10648 |
T |
C |
7: 28,561,202 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
C |
2: 70,521,067 (GRCm39) |
S346P |
possibly damaging |
Het |
| Htt |
A |
C |
5: 35,066,006 (GRCm39) |
K3060N |
probably damaging |
Het |
| Ibsp |
C |
T |
5: 104,450,024 (GRCm39) |
L8F |
probably damaging |
Het |
| Kif27 |
A |
T |
13: 58,451,378 (GRCm39) |
D983E |
probably damaging |
Het |
| Kif3a |
T |
A |
11: 53,481,560 (GRCm39) |
|
probably benign |
Het |
| Kif3c |
A |
C |
12: 3,417,090 (GRCm39) |
K370N |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,256 (GRCm39) |
|
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,758 (GRCm39) |
D74E |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,551,732 (GRCm39) |
S128P |
probably damaging |
Het |
| Mms19 |
A |
C |
19: 41,943,607 (GRCm39) |
M374R |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,932,872 (GRCm39) |
V111A |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,224,158 (GRCm39) |
Y31N |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,060,479 (GRCm39) |
M2286R |
possibly damaging |
Het |
| Ngf |
A |
T |
3: 102,427,661 (GRCm39) |
R137* |
probably null |
Het |
| Nr1i3 |
T |
A |
1: 171,041,982 (GRCm39) |
V22E |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,566 (GRCm39) |
V452A |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,151 (GRCm39) |
K94M |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,080,141 (GRCm39) |
L415P |
probably damaging |
Het |
| Pcnt |
G |
T |
10: 76,205,655 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,714,672 (GRCm39) |
D183E |
possibly damaging |
Het |
| Pglyrp1 |
G |
T |
7: 18,623,313 (GRCm39) |
G120V |
probably damaging |
Het |
| Pomt1 |
T |
A |
2: 32,142,023 (GRCm39) |
H584Q |
possibly damaging |
Het |
| Prkcq |
G |
A |
2: 11,288,643 (GRCm39) |
G532E |
probably benign |
Het |
| Pwp1 |
A |
G |
10: 85,721,480 (GRCm39) |
T361A |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,554,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,124,592 (GRCm39) |
I51T |
possibly damaging |
Het |
| Raph1 |
G |
T |
1: 60,565,058 (GRCm39) |
T143K |
probably benign |
Het |
| Rhpn1 |
A |
G |
15: 75,581,088 (GRCm39) |
E110G |
possibly damaging |
Het |
| Rnf168 |
A |
T |
16: 32,117,287 (GRCm39) |
T283S |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,857 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,797,430 (GRCm39) |
Q223R |
probably null |
Het |
| Rtp4 |
G |
T |
16: 23,431,679 (GRCm39) |
M70I |
probably benign |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Sgo1 |
C |
T |
17: 53,986,691 (GRCm39) |
D167N |
probably damaging |
Het |
| Slco1a8 |
T |
C |
6: 141,936,147 (GRCm39) |
T313A |
probably benign |
Het |
| St6gal1 |
G |
T |
16: 23,139,891 (GRCm39) |
A21S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,530,300 (GRCm39) |
L2186I |
probably damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,810 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,565,884 (GRCm39) |
T849M |
probably damaging |
Het |
| Taok2 |
G |
A |
7: 126,465,583 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,582 (GRCm39) |
I72V |
probably damaging |
Het |
| Trav1 |
T |
A |
14: 52,666,155 (GRCm39) |
S52T |
probably damaging |
Het |
| Trim30a |
C |
T |
7: 104,078,559 (GRCm39) |
|
probably null |
Het |
| Tro |
T |
C |
X: 149,437,565 (GRCm39) |
N364S |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,534 (GRCm39) |
T508A |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,053,908 (GRCm39) |
L757P |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,225 (GRCm39) |
Q111* |
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,797,309 (GRCm39) |
Q835* |
probably null |
Het |
| Xcr1 |
T |
A |
9: 123,684,940 (GRCm39) |
D274V |
possibly damaging |
Het |
| Ypel5 |
C |
T |
17: 73,153,332 (GRCm39) |
T12I |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-01-08 |
Incidental Mutation