Incidental Mutation 'IGL00094:Cfap69'
| ID |
1676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5634682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 812
(D812G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000148347]
[ENSMUST00000155048]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054865
AA Change: D812G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: D812G
| 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 |
possibly damaging
Transcript: ENSMUST00000148347
AA Change: D348G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: D348G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155048
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
AA Change: D641G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: D641G
| 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 |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,591,254 (GRCm39) |
N547K |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,247,443 (GRCm39) |
T2397A |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,288,398 (GRCm39) |
N1341S |
probably null |
Het |
| Adcy9 |
T |
A |
16: 4,122,446 (GRCm39) |
I535L |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,763 (GRCm39) |
S1726G |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,577,813 (GRCm39) |
M5V |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,889,019 (GRCm39) |
N299K |
probably benign |
Het |
| B3gnt2 |
C |
T |
11: 22,786,151 (GRCm39) |
V346I |
probably benign |
Het |
| Ceacam14 |
G |
A |
7: 17,548,062 (GRCm39) |
V51I |
probably damaging |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,646 (GRCm39) |
E114G |
possibly damaging |
Het |
| Chrna9 |
T |
C |
5: 66,126,600 (GRCm39) |
V118A |
probably benign |
Het |
| Cpsf7 |
A |
G |
19: 10,517,151 (GRCm39) |
R418G |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,052,075 (GRCm39) |
Y215H |
probably damaging |
Het |
| Dcaf5 |
A |
C |
12: 80,386,097 (GRCm39) |
N676K |
probably benign |
Het |
| Dld |
A |
T |
12: 31,385,576 (GRCm39) |
M255K |
probably benign |
Het |
| Esr2 |
A |
T |
12: 76,180,670 (GRCm39) |
L417H |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,820,730 (GRCm39) |
S5488T |
probably benign |
Het |
| Gatb |
A |
T |
3: 85,509,227 (GRCm39) |
I130L |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,130 (GRCm39) |
K506E |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,229,568 (GRCm39) |
N703S |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,524,410 (GRCm39) |
V182E |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,617,426 (GRCm39) |
Y582F |
probably damaging |
Het |
| Lancl2 |
T |
A |
6: 57,701,522 (GRCm39) |
|
probably benign |
Het |
| Lgals3 |
A |
G |
14: 47,622,175 (GRCm39) |
K197R |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,082,977 (GRCm39) |
T767A |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,338,123 (GRCm39) |
D1219V |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,806,698 (GRCm39) |
C116S |
probably benign |
Het |
| Mcm5 |
T |
G |
8: 75,851,573 (GRCm39) |
|
probably null |
Het |
| Mtpn |
G |
T |
6: 35,499,711 (GRCm39) |
T31K |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,460,486 (GRCm39) |
Y1494N |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,274,350 (GRCm39) |
E498* |
probably null |
Het |
| Nos1 |
T |
G |
5: 118,048,165 (GRCm39) |
S657A |
probably damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,561,661 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
| Or13a17 |
A |
T |
7: 140,271,349 (GRCm39) |
H177L |
probably damaging |
Het |
| Or4c127 |
T |
A |
2: 89,833,365 (GRCm39) |
I205N |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,155 (GRCm39) |
I37N |
probably damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
| Or8s8 |
T |
G |
15: 98,354,299 (GRCm39) |
V36G |
possibly damaging |
Het |
| Or9i1 |
A |
T |
19: 13,839,150 (GRCm39) |
|
probably benign |
Het |
| Osbp2 |
T |
G |
11: 3,661,848 (GRCm39) |
S735R |
probably benign |
Het |
| Otop3 |
A |
T |
11: 115,235,279 (GRCm39) |
T304S |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,128 (GRCm39) |
L369F |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,131,457 (GRCm39) |
|
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,456,119 (GRCm39) |
V149E |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,280,598 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
A |
T |
6: 39,365,132 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,262,776 (GRCm39) |
W5R |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,676,063 (GRCm39) |
L44Q |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,661 (GRCm39) |
T760A |
probably damaging |
Het |
| Shcbp1 |
A |
C |
8: 4,804,258 (GRCm39) |
Y145* |
probably null |
Het |
| Snx31 |
T |
A |
15: 36,545,761 (GRCm39) |
|
probably null |
Het |
| Spopl |
A |
T |
2: 23,427,643 (GRCm39) |
V163E |
possibly damaging |
Het |
| Sqor |
T |
C |
2: 122,629,463 (GRCm39) |
I107T |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,845,854 (GRCm39) |
F153L |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,238 (GRCm39) |
H121L |
probably damaging |
Het |
| Tnip1 |
G |
T |
11: 54,831,643 (GRCm39) |
Y10* |
probably null |
Het |
| Tnxb |
G |
T |
17: 34,904,603 (GRCm39) |
G1123C |
probably damaging |
Het |
| Wdr62 |
T |
C |
7: 29,942,948 (GRCm39) |
E515G |
probably benign |
Het |
| Zfand1 |
A |
T |
3: 10,413,590 (GRCm39) |
D32E |
probably null |
Het |
| Zfp112 |
A |
C |
7: 23,821,668 (GRCm39) |
T3P |
probably damaging |
Het |
|
| Other mutations in Cfap69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2011-07-12 |
Incidental Mutation