Incidental Mutation 'R9674:Cfap69'
ID |
728223 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap69
|
Ensembl Gene |
ENSMUSG00000040473 |
Gene Name |
cilia and flagella associated protein 69 |
Synonyms |
A330021E22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9674 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5697021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 92
(F92L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148193]
[ENSMUST00000196165]
|
AlphaFold |
Q8BH53 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054865
AA Change: F92L
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000053206 Gene: ENSMUSG00000040473 AA Change: F92L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
low complexity region
|
847 |
860 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061008
AA Change: F92L
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000051741 Gene: ENSMUSG00000040473 AA Change: F92L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132510
AA Change: F92L
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122569 Gene: ENSMUSG00000040473 AA Change: F92L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135252
AA Change: F92L
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117518 Gene: ENSMUSG00000040473 AA Change: F92L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148193
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196165
AA Change: F92L
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143393 Gene: ENSMUSG00000040473 AA Change: F92L
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: 99.0%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
T |
3: 59,914,472 (GRCm39) |
D25V |
possibly damaging |
Het |
Abca16 |
A |
G |
7: 120,074,668 (GRCm39) |
|
probably null |
Het |
Adam9 |
T |
A |
8: 25,441,014 (GRCm39) |
T820S |
possibly damaging |
Het |
Adamts6 |
G |
A |
13: 104,563,448 (GRCm39) |
V647I |
probably benign |
Het |
Afap1l2 |
T |
A |
19: 56,922,195 (GRCm39) |
R14S |
probably damaging |
Het |
Aff3 |
C |
T |
1: 38,248,864 (GRCm39) |
V748I |
probably damaging |
Het |
Aldh5a1 |
T |
C |
13: 25,110,038 (GRCm39) |
I166V |
probably benign |
Het |
Alx4 |
G |
T |
2: 93,507,858 (GRCm39) |
L384F |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,824,549 (GRCm39) |
S1073T |
|
Het |
Ankrd50 |
A |
G |
3: 38,506,574 (GRCm39) |
C275R |
unknown |
Het |
Apol11a |
G |
A |
15: 77,401,347 (GRCm39) |
S278N |
possibly damaging |
Het |
Astn2 |
T |
A |
4: 65,460,963 (GRCm39) |
D1057V |
probably damaging |
Het |
Atp11a |
T |
C |
8: 12,877,525 (GRCm39) |
V317A |
probably benign |
Het |
Cacna1i |
A |
G |
15: 80,264,629 (GRCm39) |
T1486A |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,454,291 (GRCm38) |
F1076L |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,645,838 (GRCm39) |
T154A |
probably damaging |
Het |
Cyp19a1 |
A |
T |
9: 54,074,141 (GRCm39) |
I471K |
possibly damaging |
Het |
Cyp26a1 |
T |
A |
19: 37,689,726 (GRCm39) |
M474K |
probably damaging |
Het |
Cyp4a12a |
T |
C |
4: 115,186,156 (GRCm39) |
S439P |
probably benign |
Het |
Cyp4f37 |
T |
A |
17: 32,846,841 (GRCm39) |
|
probably null |
Het |
Dgki |
A |
G |
6: 37,027,157 (GRCm39) |
Y395H |
probably damaging |
Het |
Dlg1 |
T |
C |
16: 31,610,580 (GRCm39) |
V287A |
probably damaging |
Het |
Dlx2 |
C |
T |
2: 71,376,496 (GRCm39) |
G81S |
possibly damaging |
Het |
Dnah8 |
G |
T |
17: 30,998,112 (GRCm39) |
K3448N |
possibly damaging |
Het |
Dnhd1 |
C |
T |
7: 105,363,429 (GRCm39) |
P3997L |
probably damaging |
Het |
Drosha |
C |
G |
15: 12,890,170 (GRCm39) |
D910E |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,442,036 (GRCm39) |
V1597A |
probably benign |
Het |
Eif1b |
A |
G |
9: 120,323,265 (GRCm39) |
K42E |
possibly damaging |
Het |
Enpp2 |
C |
A |
15: 54,816,135 (GRCm39) |
G10W |
unknown |
Het |
Exd2 |
A |
G |
12: 80,536,372 (GRCm39) |
N334S |
probably benign |
Het |
Glt6d1 |
T |
A |
2: 25,684,382 (GRCm39) |
N208I |
probably benign |
Het |
Grin2a |
T |
A |
16: 9,471,265 (GRCm39) |
K668* |
probably null |
Het |
Grm1 |
A |
G |
10: 10,609,028 (GRCm39) |
V535A |
possibly damaging |
Het |
H2ac7 |
A |
G |
13: 23,758,862 (GRCm39) |
D73G |
possibly damaging |
Het |
Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
Ighm |
T |
A |
12: 113,385,139 (GRCm39) |
I274F |
|
Het |
Ighv1-58 |
G |
T |
12: 115,275,847 (GRCm39) |
T97K |
probably damaging |
Het |
Igkv6-20 |
T |
C |
6: 70,312,852 (GRCm39) |
H107R |
possibly damaging |
Het |
Il15 |
C |
T |
8: 83,069,938 (GRCm39) |
G42D |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,704,961 (GRCm39) |
M347L |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,595,060 (GRCm39) |
Y670C |
probably damaging |
Het |
Ktn1 |
G |
C |
14: 47,922,213 (GRCm39) |
C458S |
possibly damaging |
Het |
Lama5 |
C |
T |
2: 179,840,267 (GRCm39) |
|
probably null |
Het |
Lce1i |
T |
C |
3: 92,685,113 (GRCm39) |
Q21R |
unknown |
Het |
Lmo7 |
A |
T |
14: 102,078,340 (GRCm39) |
E81D |
probably damaging |
Het |
Lrrc4b |
A |
T |
7: 44,111,852 (GRCm39) |
I575F |
probably damaging |
Het |
Mmrn1 |
C |
T |
6: 60,948,072 (GRCm39) |
Q272* |
probably null |
Het |
Nbea |
A |
T |
3: 55,966,183 (GRCm39) |
D426E |
probably damaging |
Het |
Neto1 |
G |
A |
18: 86,491,827 (GRCm39) |
V243M |
probably damaging |
Het |
Notch1 |
G |
A |
2: 26,361,308 (GRCm39) |
R1061C |
probably damaging |
Het |
Or5g25 |
T |
G |
2: 85,478,593 (GRCm39) |
Q24P |
possibly damaging |
Het |
Or5p67 |
A |
T |
7: 107,922,271 (GRCm39) |
I204N |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,172,499 (GRCm39) |
D431G |
possibly damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,140,127 (GRCm39) |
D675G |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,520,162 (GRCm39) |
H135Q |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,533,819 (GRCm39) |
H1552Q |
probably damaging |
Het |
Rbfox1 |
T |
C |
16: 7,170,885 (GRCm39) |
F282L |
probably benign |
Het |
Ret |
T |
C |
6: 118,130,830 (GRCm39) |
D1111G |
probably damaging |
Het |
Rnf224 |
A |
T |
2: 25,126,330 (GRCm39) |
Y8N |
probably benign |
Het |
Rtl1 |
G |
T |
12: 109,559,024 (GRCm39) |
H938Q |
possibly damaging |
Het |
Sec23ip |
T |
G |
7: 128,380,187 (GRCm39) |
D867E |
probably damaging |
Het |
Sema3f |
A |
T |
9: 107,566,947 (GRCm39) |
L194Q |
possibly damaging |
Het |
Sfmbt1 |
C |
T |
14: 30,495,851 (GRCm39) |
R45C |
probably damaging |
Het |
Slc7a4 |
T |
C |
16: 17,392,208 (GRCm39) |
I409V |
probably benign |
Het |
Slco6c1 |
T |
A |
1: 97,047,565 (GRCm39) |
D246V |
probably damaging |
Het |
Smap2 |
C |
T |
4: 120,826,745 (GRCm39) |
M426I |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,120,030 (GRCm39) |
V4327I |
possibly damaging |
Het |
Tmem184b |
T |
A |
15: 79,249,524 (GRCm39) |
T315S |
probably benign |
Het |
Trpm4 |
A |
T |
7: 44,982,811 (GRCm39) |
D30E |
possibly damaging |
Het |
Ttc7b |
T |
A |
12: 100,432,553 (GRCm39) |
K154N |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,607,380 (GRCm39) |
H1104Q |
probably damaging |
Het |
Wnk4 |
T |
A |
11: 101,166,874 (GRCm39) |
L1010Q |
unknown |
Het |
Xpo6 |
T |
A |
7: 125,723,700 (GRCm39) |
H537L |
probably benign |
Het |
Xrn1 |
A |
T |
9: 95,855,645 (GRCm39) |
Y314F |
probably damaging |
Het |
Xrn1 |
A |
T |
9: 95,855,647 (GRCm39) |
I315F |
possibly damaging |
Het |
Zap70 |
T |
C |
1: 36,810,150 (GRCm39) |
Y87H |
probably benign |
Het |
Zbtb4 |
T |
C |
11: 69,669,973 (GRCm39) |
Y899H |
probably damaging |
Het |
Zcchc7 |
T |
A |
4: 44,931,418 (GRCm39) |
H202Q |
possibly damaging |
Het |
Zeb2 |
A |
G |
2: 44,891,725 (GRCm39) |
Y276H |
probably damaging |
Het |
Zfp867 |
T |
G |
11: 59,355,850 (GRCm39) |
Q68P |
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 |
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 |
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'- CATATGAGCGTGACTACAGATCAG -3'
(R):5'- ACAGTCCTCTTTAGACTTCAAACG -3'
Sequencing Primer
(F):5'- ATTGTTCAAATCCTGTCACCAAC -3'
(R):5'- CCACACTTAACAAGATAGATAG -3'
|
Posted On |
2022-10-06 |