Incidental Mutation 'IGL02821:Cfap69'
ID |
361021 |
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 # |
IGL02821
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5714017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 5
(E5G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000115426]
[ENSMUST00000115427]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000196165]
[ENSMUST00000164219]
[ENSMUST00000148193]
|
AlphaFold |
Q8BH53 |
Predicted Effect |
unknown
Transcript: ENSMUST00000054865
AA Change: E5G
|
SMART Domains |
Protein: ENSMUSP00000053206 Gene: ENSMUSG00000040473 AA Change: E5G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
low complexity region
|
847 |
860 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000061008
AA Change: E5G
|
SMART Domains |
Protein: ENSMUSP00000051741 Gene: ENSMUSG00000040473 AA Change: E5G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115426
|
SMART Domains |
Protein: ENSMUSP00000111086 Gene: ENSMUSG00000015653
Domain | Start | End | E-Value | Type |
Pfam:F420_oxidored
|
31 |
118 |
4e-18 |
PFAM |
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
Pfam:Ferric_reduct
|
258 |
406 |
1.5e-22 |
PFAM |
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115427
|
SMART Domains |
Protein: ENSMUSP00000111087 Gene: ENSMUSG00000015653
Domain | Start | End | E-Value | Type |
Pfam:F420_oxidored
|
31 |
118 |
2.3e-17 |
PFAM |
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
Pfam:Ferric_reduct
|
258 |
401 |
1.8e-21 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132510
AA Change: E5G
|
SMART Domains |
Protein: ENSMUSP00000122569 Gene: ENSMUSG00000040473 AA Change: E5G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000135252
AA Change: E5G
|
SMART Domains |
Protein: ENSMUSP00000117518 Gene: ENSMUSG00000040473 AA Change: E5G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198121
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
AA Change: E5G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000143393 Gene: ENSMUSG00000040473 AA Change: E5G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
low complexity region
|
676 |
689 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164219
|
SMART Domains |
Protein: ENSMUSP00000132501 Gene: ENSMUSG00000015653
Domain | Start | End | E-Value | Type |
Pfam:F420_oxidored
|
31 |
118 |
4e-18 |
PFAM |
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
Pfam:Ferric_reduct
|
258 |
406 |
1.5e-22 |
PFAM |
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148193
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
T |
C |
14: 35,818,473 (GRCm39) |
L157S |
probably benign |
Het |
Adam15 |
A |
G |
3: 89,252,663 (GRCm39) |
S309P |
probably damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,630,415 (GRCm39) |
M772K |
possibly damaging |
Het |
Ankfn1 |
T |
C |
11: 89,282,442 (GRCm39) |
M402V |
probably benign |
Het |
Anln |
G |
A |
9: 22,269,418 (GRCm39) |
T822I |
possibly damaging |
Het |
Atp13a4 |
A |
G |
16: 29,260,125 (GRCm39) |
V589A |
probably benign |
Het |
Ccm2l |
C |
T |
2: 152,909,779 (GRCm39) |
L44F |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,443,818 (GRCm39) |
L760Q |
probably damaging |
Het |
Cd177 |
G |
T |
7: 24,443,819 (GRCm39) |
L760M |
probably damaging |
Het |
Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,600 (GRCm39) |
D1551V |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,593 (GRCm39) |
V584A |
probably benign |
Het |
Dop1a |
C |
A |
9: 86,402,209 (GRCm39) |
H1136Q |
probably benign |
Het |
Egf |
T |
C |
3: 129,496,128 (GRCm39) |
E329G |
probably damaging |
Het |
Eif3c |
A |
G |
7: 126,157,831 (GRCm39) |
V337A |
probably benign |
Het |
Eif3f |
G |
T |
7: 108,533,881 (GRCm39) |
|
probably benign |
Het |
Eif3f |
C |
T |
7: 108,533,882 (GRCm39) |
|
probably benign |
Het |
Evc |
T |
A |
5: 37,483,740 (GRCm39) |
I187F |
probably benign |
Het |
Fam117a |
T |
G |
11: 95,254,815 (GRCm39) |
|
probably benign |
Het |
H2-M10.4 |
A |
T |
17: 36,771,323 (GRCm39) |
V285E |
probably damaging |
Het |
Hps4 |
G |
T |
5: 112,523,307 (GRCm39) |
M608I |
probably benign |
Het |
Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
Itgam |
A |
T |
7: 127,675,281 (GRCm39) |
M169L |
probably damaging |
Het |
Kcnn3 |
G |
A |
3: 89,570,029 (GRCm39) |
G614D |
possibly damaging |
Het |
Kcnn3 |
A |
G |
3: 89,428,281 (GRCm39) |
N169S |
possibly damaging |
Het |
Mn1 |
A |
T |
5: 111,569,717 (GRCm39) |
K1229M |
probably damaging |
Het |
Ms4a19 |
A |
G |
19: 11,118,897 (GRCm39) |
*71Q |
probably null |
Het |
Nckap5 |
A |
G |
1: 125,955,553 (GRCm39) |
M401T |
probably damaging |
Het |
Or1af1 |
T |
C |
2: 37,110,112 (GRCm39) |
S204P |
probably damaging |
Het |
Or8c13 |
T |
C |
9: 38,091,964 (GRCm39) |
N52D |
possibly damaging |
Het |
Or8d4 |
T |
G |
9: 40,038,561 (GRCm39) |
E232A |
probably benign |
Het |
Pttg1ip2 |
G |
A |
5: 5,502,039 (GRCm39) |
Q138* |
probably null |
Het |
Sim2 |
G |
A |
16: 93,898,047 (GRCm39) |
V94M |
probably damaging |
Het |
Slc46a3 |
G |
A |
5: 147,822,822 (GRCm39) |
T340M |
probably benign |
Het |
Ssc4d |
A |
G |
5: 135,994,923 (GRCm39) |
|
probably benign |
Het |
Trav12-1 |
A |
G |
14: 53,775,916 (GRCm39) |
D22G |
probably damaging |
Het |
Trgv4 |
T |
A |
13: 19,369,422 (GRCm39) |
D55E |
possibly damaging |
Het |
Trps1 |
G |
A |
15: 50,524,273 (GRCm39) |
T969M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,719,894 (GRCm39) |
|
probably benign |
Het |
Ubqln4 |
A |
G |
3: 88,470,458 (GRCm39) |
N310S |
probably benign |
Het |
Vapa |
T |
C |
17: 65,889,756 (GRCm39) |
|
probably benign |
Het |
Vmn1r65 |
T |
C |
7: 6,011,893 (GRCm39) |
T114A |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,875,332 (GRCm39) |
E1725G |
probably damaging |
Het |
Vps53 |
A |
G |
11: 76,027,143 (GRCm39) |
|
probably benign |
Het |
Xkr9 |
T |
C |
1: 13,742,799 (GRCm39) |
L28P |
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 |
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 |
2015-12-18 |