Incidental Mutation 'R8306:Cfap69'
| ID |
641058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
067792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8306 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 5654287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 549
(Y549S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(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: Y549S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: Y549S
| 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: Y492S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: Y492S
| 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: Y549S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: Y549S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148347
AA Change: Y131S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: Y131S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
C |
A |
11: 101,302,194 (GRCm39) |
V158F |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,434,409 (GRCm39) |
C22* |
probably null |
Het |
| Adam1b |
T |
C |
5: 121,641,212 (GRCm39) |
|
probably benign |
Het |
| Ambn |
G |
A |
5: 88,607,281 (GRCm39) |
E50K |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,873,259 (GRCm39) |
D14G |
probably benign |
Het |
| Asphd1 |
C |
T |
7: 126,547,784 (GRCm39) |
R173H |
probably damaging |
Het |
| Atr |
A |
T |
9: 95,802,423 (GRCm39) |
T1772S |
|
Het |
| Best3 |
T |
C |
10: 116,838,515 (GRCm39) |
L191P |
probably damaging |
Het |
| Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
| Borcs6 |
T |
C |
11: 68,950,646 (GRCm39) |
L8P |
probably benign |
Het |
| Brca1 |
T |
G |
11: 101,416,463 (GRCm39) |
Q557P |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,460,128 (GRCm39) |
E468K |
possibly damaging |
Het |
| Capza2 |
T |
A |
6: 17,637,131 (GRCm39) |
L4Q |
probably benign |
Het |
| Cc2d2b |
T |
A |
19: 40,804,228 (GRCm39) |
Y918* |
probably null |
Het |
| Ccdc163 |
T |
C |
4: 116,567,472 (GRCm39) |
L67P |
probably damaging |
Het |
| Ccdc172 |
C |
A |
19: 58,525,022 (GRCm39) |
Q160K |
probably damaging |
Het |
| Ccp110 |
T |
A |
7: 118,321,903 (GRCm39) |
D519E |
probably benign |
Het |
| Cd300ld2 |
T |
C |
11: 114,904,648 (GRCm39) |
Q73R |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,236,496 (GRCm39) |
D608V |
|
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Clu |
A |
C |
14: 66,217,211 (GRCm39) |
Q348P |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,473,649 (GRCm39) |
N1153K |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,888,849 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
T |
9: 105,661,272 (GRCm39) |
I279N |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,402,259 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Dpyd |
A |
G |
3: 119,205,822 (GRCm39) |
K888E |
probably benign |
Het |
| Eif2ak4 |
T |
C |
2: 118,287,656 (GRCm39) |
I1208T |
possibly damaging |
Het |
| Epha1 |
T |
C |
6: 42,335,722 (GRCm39) |
I972V |
probably damaging |
Het |
| Fam13c |
C |
T |
10: 70,388,983 (GRCm39) |
T503I |
probably benign |
Het |
| Fbxo43 |
T |
A |
15: 36,162,013 (GRCm39) |
Q398L |
probably benign |
Het |
| Fbxo44 |
A |
G |
4: 148,243,089 (GRCm39) |
I57T |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,449,369 (GRCm39) |
I1422T |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,746,076 (GRCm39) |
L138P |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,338,840 (GRCm39) |
K378E |
possibly damaging |
Het |
| Ganc |
T |
A |
2: 120,252,560 (GRCm39) |
D128E |
probably benign |
Het |
| Gm19965 |
T |
C |
1: 116,749,515 (GRCm39) |
S399P |
|
Het |
| H2-Q1 |
A |
T |
17: 35,539,997 (GRCm39) |
K89* |
probably null |
Het |
| H2-Q2 |
A |
T |
17: 35,561,301 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Homer2 |
T |
A |
7: 81,274,014 (GRCm39) |
S125C |
possibly damaging |
Het |
| Hormad2 |
T |
C |
11: 4,358,714 (GRCm39) |
K231R |
probably benign |
Het |
| Kif17 |
A |
C |
4: 138,005,220 (GRCm39) |
K262Q |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,761,444 (GRCm39) |
S279N |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,741,450 (GRCm39) |
N441D |
probably damaging |
Het |
| Lta4h |
G |
T |
10: 93,318,126 (GRCm39) |
L515F |
possibly damaging |
Het |
| Mavs |
T |
C |
2: 131,088,470 (GRCm39) |
S425P |
probably benign |
Het |
| Mcat |
A |
C |
15: 83,439,592 (GRCm39) |
D99E |
probably damaging |
Het |
| Nav2 |
C |
A |
7: 49,195,765 (GRCm39) |
T1047K |
probably benign |
Het |
| Neb |
T |
A |
2: 52,099,657 (GRCm39) |
Y4731F |
probably damaging |
Het |
| Nectin4 |
G |
C |
1: 171,211,325 (GRCm39) |
R283P |
probably null |
Het |
| Notch3 |
G |
A |
17: 32,377,086 (GRCm39) |
T273I |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5i1 |
A |
T |
2: 87,613,830 (GRCm39) |
*317C |
probably null |
Het |
| Or6b2b |
T |
G |
1: 92,419,247 (GRCm39) |
I77L |
possibly damaging |
Het |
| Or6z7 |
T |
A |
7: 6,483,868 (GRCm39) |
I96F |
possibly damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,155,638 (GRCm39) |
T786S |
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,692,186 (GRCm39) |
K520E |
probably benign |
Het |
| Piezo2 |
A |
C |
18: 63,208,801 (GRCm39) |
L1404R |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,792,416 (GRCm39) |
S1321G |
probably benign |
Het |
| Rtkn |
T |
C |
6: 83,128,897 (GRCm39) |
V464A |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,147 (GRCm39) |
F193S |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,122,374 (GRCm39) |
V33I |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,350,357 (GRCm39) |
L839P |
probably damaging |
Het |
| Slc6a17 |
C |
A |
3: 107,380,985 (GRCm39) |
V507L |
probably benign |
Het |
| Stradb |
C |
A |
1: 59,030,356 (GRCm39) |
N203K |
unknown |
Het |
| Tenm2 |
T |
C |
11: 35,960,196 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Tmem245 |
A |
C |
4: 56,886,037 (GRCm39) |
W860G |
probably damaging |
Het |
| Tpst2 |
G |
A |
5: 112,455,803 (GRCm39) |
R114H |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,036,460 (GRCm39) |
D920N |
possibly damaging |
Het |
| Vmn1r59 |
T |
A |
7: 5,456,966 (GRCm39) |
I265L |
probably benign |
Het |
| Zbtb20 |
A |
C |
16: 43,439,100 (GRCm39) |
D667A |
probably damaging |
Het |
| Zbtb4 |
T |
A |
11: 69,668,309 (GRCm39) |
I344N |
probably damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,343,234 (GRCm39) |
C538S |
possibly damaging |
Het |
| Zmym6 |
A |
T |
4: 127,016,355 (GRCm39) |
H712L |
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 |
|
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 |
|
|
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'- CCGTTATGTGGATTCCTAGGAATG -3'
(R):5'- AGTCATGGCACCTGGTAGAG -3'
Sequencing Primer
(F):5'- ATTCCTAGGAATGCAGGTTGC -3'
(R):5'- GTGGGCTAGAATGTGAAAACTCTTCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation