Incidental Mutation 'R9106:Cfap69'
| ID |
692003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
068970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5690190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 158
(I158M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054865
AA Change: I158M
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: I158M
| 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: I158M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: I158M
| 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: I158M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: I158M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196165
AA Change: I158M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: I158M
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (63/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
A |
1: 179,614,601 (GRCm39) |
K394N |
probably benign |
Het |
| Banp |
A |
T |
8: 122,705,372 (GRCm39) |
T81S |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,465 (GRCm39) |
E495G |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,628,873 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,753,223 (GRCm39) |
Q186L |
probably damaging |
Het |
| Clspn |
G |
A |
4: 126,471,243 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,432,162 (GRCm39) |
E224G |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,884 (GRCm39) |
L155P |
probably damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,773,682 (GRCm39) |
A238T |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,121,752 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Fam186a |
AGCCGCTGCCGCTGCCGCTGCCGC |
AGCCGCTGCCGCTGCCGC |
15: 99,844,107 (GRCm39) |
|
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,488,910 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
G |
8: 57,985,729 (GRCm39) |
D547A |
probably damaging |
Het |
| Gm1527 |
C |
A |
3: 28,956,440 (GRCm39) |
D135E |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,747 (GRCm39) |
I679T |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,467,619 (GRCm39) |
R2523S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,637 (GRCm39) |
S218R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,776,891 (GRCm39) |
A4T |
unknown |
Het |
| Ly6f |
G |
T |
15: 75,141,706 (GRCm39) |
D50Y |
probably damaging |
Het |
| Mafg |
GGTTCTTCAGTGT |
GGT |
11: 120,520,415 (GRCm39) |
|
probably null |
Het |
| Map2 |
T |
A |
1: 66,454,522 (GRCm39) |
Y1137* |
probably null |
Het |
| Map4k3 |
C |
A |
17: 81,035,257 (GRCm39) |
R21L |
possibly damaging |
Het |
| Mapk10 |
A |
T |
5: 103,186,442 (GRCm39) |
V90D |
probably damaging |
Het |
| Mapkapk3 |
T |
A |
9: 107,136,067 (GRCm39) |
E219V |
probably damaging |
Het |
| Mideas |
T |
C |
12: 84,199,327 (GRCm39) |
Y1040C |
probably damaging |
Het |
| Mos |
T |
G |
4: 3,871,457 (GRCm39) |
I120L |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,679 (GRCm39) |
V83A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,065,768 (GRCm39) |
Q19R |
probably damaging |
Het |
| Myrip |
T |
C |
9: 120,261,544 (GRCm39) |
S386P |
probably benign |
Het |
| Mzt2 |
A |
G |
16: 15,666,568 (GRCm39) |
W141R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,428,856 (GRCm39) |
Y710H |
probably damaging |
Het |
| Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,527 (GRCm39) |
S29T |
probably benign |
Het |
| Oplah |
C |
A |
15: 76,189,876 (GRCm39) |
G150C |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,625,016 (GRCm39) |
T97A |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or52a20 |
G |
A |
7: 103,366,737 (GRCm39) |
C312Y |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,986,369 (GRCm39) |
Q10R |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,908,973 (GRCm39) |
K460R |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,179,100 (GRCm39) |
|
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,680,757 (GRCm39) |
I17V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,144,789 (GRCm39) |
D134G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,570,315 (GRCm39) |
T763I |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,276,358 (GRCm39) |
D61G |
probably benign |
Het |
| Ptk2 |
T |
C |
15: 73,131,457 (GRCm39) |
M589V |
possibly damaging |
Het |
| Rabl6 |
A |
G |
2: 25,486,446 (GRCm39) |
W153R |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,109 (GRCm39) |
I843V |
|
Het |
| Resf1 |
T |
C |
6: 149,230,368 (GRCm39) |
V1138A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,977,940 (GRCm39) |
E719G |
|
Het |
| Sart3 |
T |
C |
5: 113,892,410 (GRCm39) |
D363G |
possibly damaging |
Het |
| Sgo2a |
C |
A |
1: 58,037,283 (GRCm39) |
D9E |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,725,097 (GRCm39) |
V450A |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,668,416 (GRCm39) |
Y483N |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,617,974 (GRCm39) |
T475A |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,458 (GRCm39) |
F110L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,975 (GRCm39) |
I686V |
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,495,269 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,150,280 (GRCm39) |
N222Y |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,278,479 (GRCm39) |
V1010M |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,300,664 (GRCm39) |
I669N |
possibly damaging |
Het |
| Ubp1 |
A |
G |
9: 113,799,319 (GRCm39) |
T425A |
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,681,713 (GRCm39) |
I508T |
probably damaging |
Het |
| Vit |
G |
A |
17: 78,934,278 (GRCm39) |
D627N |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
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 |
|
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'- TTAGGTACTGAATCCATGAGCC -3'
(R):5'- GTTTGCCAGCAACAACTTCCC -3'
Sequencing Primer
(F):5'- GGTACTGAATCCATGAGCCCATTTG -3'
(R):5'- CTCTCTTGGACTTAATCATGGTTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation