Incidental Mutation 'R5596:Cfap69'
ID |
437824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap69
|
Ensembl Gene |
ENSMUSG00000040473 |
Gene Name |
cilia and flagella associated protein 69 |
Synonyms |
A330021E22Rik |
MMRRC Submission |
043148-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5596 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5676020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 225
(L225P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000196165]
|
AlphaFold |
Q8BH53 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054865
AA Change: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053206 Gene: ENSMUSG00000040473 AA Change: L225P
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 damaging
Transcript: ENSMUST00000061008
AA Change: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051741 Gene: ENSMUSG00000040473 AA Change: L225P
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 damaging
Transcript: ENSMUST00000135252
AA Change: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117518 Gene: ENSMUSG00000040473 AA Change: L225P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150140
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196165
AA Change: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143393 Gene: ENSMUSG00000040473 AA Change: L225P
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 |
0.6943 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
Validation Efficiency |
100% (40/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
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 |
|
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'- AGCAGGCATTCCAAGTTACTAAGC -3'
(R):5'- GTGAAATAACTGCCCGTGTTGC -3'
Sequencing Primer
(F):5'- GGCATTCCAAGTTACTAAGCTGTTG -3'
(R):5'- GCTGTGTTAGGCTACCAGC -3'
|
Posted On |
2016-10-26 |