Incidental Mutation 'R9028:Cfap69'
ID |
686860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap69
|
Ensembl Gene |
ENSMUSG00000040473 |
Gene Name |
cilia and flagella associated protein 69 |
Synonyms |
A330021E22Rik |
MMRRC Submission |
068857-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9028 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5696958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 113
(S113T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148193]
[ENSMUST00000196165]
|
AlphaFold |
Q8BH53 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054865
AA Change: S113T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000053206 Gene: ENSMUSG00000040473 AA Change: S113T
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: S113T
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000051741 Gene: ENSMUSG00000040473 AA Change: S113T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132510
AA Change: S113T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000122569 Gene: ENSMUSG00000040473 AA Change: S113T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135252
AA Change: S113T
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000117518 Gene: ENSMUSG00000040473 AA Change: S113T
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: S113T
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143393 Gene: ENSMUSG00000040473 AA Change: S113T
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (74/75) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,023,977 (GRCm39) |
V1066A |
probably damaging |
Het |
Abca5 |
T |
A |
11: 110,188,904 (GRCm39) |
H851L |
probably damaging |
Het |
Actn2 |
T |
C |
13: 12,315,864 (GRCm39) |
I218M |
possibly damaging |
Het |
Afmid |
G |
A |
11: 117,727,489 (GRCm39) |
E338K |
probably benign |
Het |
Amer3 |
G |
A |
1: 34,627,758 (GRCm39) |
V666I |
probably benign |
Het |
Apol7b |
A |
G |
15: 77,307,616 (GRCm39) |
V293A |
probably damaging |
Het |
Bag6 |
T |
A |
17: 35,363,130 (GRCm39) |
S657T |
probably benign |
Het |
Btaf1 |
T |
C |
19: 36,946,508 (GRCm39) |
L438P |
probably damaging |
Het |
Cdc20 |
T |
C |
4: 118,293,757 (GRCm39) |
E126G |
probably benign |
Het |
Cep97 |
C |
T |
16: 55,739,915 (GRCm39) |
W248* |
probably null |
Het |
Cgrrf1 |
C |
A |
14: 47,091,200 (GRCm39) |
D241E |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,960,608 (GRCm39) |
T280A |
possibly damaging |
Het |
Cox4i1 |
T |
A |
8: 121,398,022 (GRCm39) |
|
probably benign |
Het |
Cpm |
T |
A |
10: 117,519,414 (GRCm39) |
F441I |
probably benign |
Het |
Cs |
A |
C |
10: 128,188,952 (GRCm39) |
M154L |
|
Het |
Dmrta1 |
T |
A |
4: 89,579,914 (GRCm39) |
N291K |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,560,297 (GRCm39) |
T2125A |
probably benign |
Het |
Dock10 |
A |
T |
1: 80,584,012 (GRCm39) |
|
probably benign |
Het |
Dok7 |
A |
G |
5: 35,236,819 (GRCm39) |
Y369C |
probably damaging |
Het |
E130311K13Rik |
T |
C |
3: 63,822,969 (GRCm39) |
Y225C |
probably damaging |
Het |
Elapor1 |
G |
A |
3: 108,370,819 (GRCm39) |
T687I |
probably benign |
Het |
F7 |
T |
C |
8: 13,076,087 (GRCm39) |
L10P |
possibly damaging |
Het |
Faf1 |
C |
A |
4: 109,748,105 (GRCm39) |
T470K |
possibly damaging |
Het |
Fam83h |
A |
T |
15: 75,875,738 (GRCm39) |
L533Q |
possibly damaging |
Het |
Far1 |
T |
A |
7: 113,146,629 (GRCm39) |
V129E |
probably damaging |
Het |
Fgfr4 |
T |
C |
13: 55,306,967 (GRCm39) |
Y219H |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,255,609 (GRCm39) |
S807R |
probably benign |
Het |
Gaa |
T |
A |
11: 119,161,207 (GRCm39) |
D83E |
probably benign |
Het |
Grm2 |
A |
G |
9: 106,528,384 (GRCm39) |
S167P |
possibly damaging |
Het |
H1f11-ps |
T |
C |
19: 47,159,129 (GRCm39) |
K149E |
unknown |
Het |
Hibch |
T |
C |
1: 52,892,868 (GRCm39) |
L26P |
possibly damaging |
Het |
Hspa9 |
T |
C |
18: 35,075,084 (GRCm39) |
E415G |
probably damaging |
Het |
Ipo4 |
T |
C |
14: 55,866,408 (GRCm39) |
Y757C |
probably damaging |
Het |
Itk |
T |
A |
11: 46,235,710 (GRCm39) |
|
probably benign |
Het |
Kdm5a |
C |
T |
6: 120,416,092 (GRCm39) |
P1671S |
probably benign |
Het |
Kif13a |
G |
A |
13: 46,951,841 (GRCm39) |
P811S |
probably damaging |
Het |
Kif23 |
T |
C |
9: 61,828,341 (GRCm39) |
E857G |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,468,011 (GRCm39) |
S91P |
probably benign |
Het |
Letm1 |
G |
T |
5: 33,909,847 (GRCm39) |
Q396K |
probably damaging |
Het |
Map2k6 |
T |
A |
11: 110,388,799 (GRCm39) |
M247K |
|
Het |
Mga |
A |
G |
2: 119,778,070 (GRCm39) |
I1872V |
probably benign |
Het |
Mmp15 |
A |
T |
8: 96,096,316 (GRCm39) |
N369I |
probably benign |
Het |
Myo3a |
T |
A |
2: 22,490,099 (GRCm39) |
S1487T |
possibly damaging |
Het |
Ncam1 |
T |
C |
9: 49,418,736 (GRCm39) |
T855A |
|
Het |
Ncoa2 |
A |
G |
1: 13,223,079 (GRCm39) |
V1182A |
probably benign |
Het |
Nhlrc3 |
A |
T |
3: 53,360,992 (GRCm39) |
C254* |
probably null |
Het |
Nlrp1a |
C |
T |
11: 71,013,819 (GRCm39) |
R477H |
probably benign |
Het |
Nox3 |
T |
A |
17: 3,716,185 (GRCm39) |
T407S |
possibly damaging |
Het |
Or1x6 |
C |
T |
11: 50,939,660 (GRCm39) |
T242M |
probably damaging |
Het |
Or3a1d |
T |
C |
11: 74,237,747 (GRCm39) |
Y101C |
probably damaging |
Het |
Or4c15b |
T |
A |
2: 89,112,676 (GRCm39) |
D267V |
probably damaging |
Het |
Pfkp |
T |
A |
13: 6,655,725 (GRCm39) |
I303F |
probably damaging |
Het |
Pgc |
T |
C |
17: 48,043,983 (GRCm39) |
Y292H |
possibly damaging |
Het |
Phtf2 |
A |
G |
5: 20,999,373 (GRCm39) |
Y257H |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,701,098 (GRCm39) |
N1613D |
probably damaging |
Het |
Prb1b |
C |
T |
6: 132,289,618 (GRCm39) |
E69K |
unknown |
Het |
Rapgef2 |
A |
G |
3: 78,981,651 (GRCm39) |
S1115P |
probably damaging |
Het |
Rbpj |
A |
G |
5: 53,807,032 (GRCm39) |
E260G |
possibly damaging |
Het |
Rrm1 |
T |
A |
7: 102,109,605 (GRCm39) |
N476K |
probably damaging |
Het |
Slc9a2 |
T |
A |
1: 40,765,612 (GRCm39) |
I334N |
probably damaging |
Het |
Slk |
T |
G |
19: 47,608,512 (GRCm39) |
N488K |
probably benign |
Het |
Smarca5 |
T |
C |
8: 81,440,642 (GRCm39) |
I607M |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,473,087 (GRCm39) |
V162M |
probably benign |
Het |
Svep1 |
T |
G |
4: 58,145,199 (GRCm39) |
Q422P |
possibly damaging |
Het |
Tcn2 |
C |
T |
11: 3,872,111 (GRCm39) |
V339I |
probably damaging |
Het |
Tnfrsf19 |
T |
C |
14: 61,242,650 (GRCm39) |
H78R |
probably benign |
Het |
Trav14-3 |
C |
A |
14: 54,000,887 (GRCm39) |
Q33K |
unknown |
Het |
Ubtd2 |
T |
C |
11: 32,449,432 (GRCm39) |
I93T |
possibly damaging |
Het |
Uhrf2 |
G |
A |
19: 30,066,744 (GRCm39) |
|
probably null |
Het |
Vmn1r224 |
T |
G |
17: 20,640,112 (GRCm39) |
S230A |
possibly damaging |
Het |
Wee2 |
A |
T |
6: 40,421,189 (GRCm39) |
H93L |
probably benign |
Het |
Zdhhc17 |
T |
C |
10: 110,796,934 (GRCm39) |
E279G |
probably damaging |
Het |
Zfp623 |
T |
A |
15: 75,819,349 (GRCm39) |
F102I |
probably damaging |
Het |
Zfpm2 |
A |
C |
15: 40,966,758 (GRCm39) |
E1081A |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,506,116 (GRCm39) |
|
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 |
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'- TATGAGCGTGACTACAGATCAG -3'
(R):5'- ACAGTCCTCTTTAGACTTCAAACG -3'
Sequencing Primer
(F):5'- CAAATCCTGTCACCAACTT -3'
(R):5'- CACACTTAACAAGATAGATAGGAT -3'
|
Posted On |
2021-11-19 |