Incidental Mutation 'R9617:Cfap69'
| ID |
726508 |
| 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 # |
R9617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5639164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 670
(E670G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148347]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054865
AA Change: E670G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: E670G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124734
|
| SMART Domains |
Protein: ENSMUSP00000119859
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
88 |
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 benign
Transcript: ENSMUST00000135252
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148347
AA Change: E252G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: E252G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
| 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: 99.1%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
C |
T |
3: 68,777,402 (GRCm39) |
P121L |
probably damaging |
Het |
| 4930442H23Rik |
C |
T |
10: 81,018,976 (GRCm39) |
V16I |
unknown |
Het |
| 4930444P10Rik |
T |
C |
1: 16,139,051 (GRCm39) |
M97V |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,797,353 (GRCm39) |
|
probably null |
Het |
| Abhd5 |
T |
C |
9: 122,197,035 (GRCm39) |
I74T |
probably benign |
Het |
| Ankle2 |
T |
A |
5: 110,399,409 (GRCm39) |
F590I |
probably damaging |
Het |
| C2cd6 |
T |
C |
1: 59,097,848 (GRCm39) |
S414G |
probably benign |
Het |
| Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
| Cep295nl |
G |
T |
11: 118,224,000 (GRCm39) |
H281Q |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,090,718 (GRCm39) |
V90E |
possibly damaging |
Het |
| Cnksr3 |
A |
C |
10: 7,079,021 (GRCm39) |
|
probably null |
Het |
| Cntrl |
T |
A |
2: 35,035,077 (GRCm39) |
F901L |
probably benign |
Het |
| Coch |
T |
A |
12: 51,645,034 (GRCm39) |
M196K |
probably damaging |
Het |
| Crygd |
T |
C |
1: 65,102,369 (GRCm39) |
N34S |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,492,962 (GRCm39) |
I511N |
probably benign |
Het |
| Dhx30 |
C |
T |
9: 109,926,186 (GRCm39) |
A142T |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,087,284 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,998,228 (GRCm39) |
D776G |
probably damaging |
Het |
| Dnm3 |
C |
T |
1: 162,149,354 (GRCm39) |
G197D |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,824,190 (GRCm39) |
H91R |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,596,258 (GRCm39) |
M844V |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,773,902 (GRCm39) |
E351G |
probably benign |
Het |
| Etfbkmt |
G |
A |
6: 149,045,744 (GRCm39) |
G33R |
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,588,738 (GRCm39) |
I503T |
probably benign |
Het |
| Gm6370 |
A |
T |
5: 146,429,993 (GRCm39) |
Q143L |
probably benign |
Het |
| Gnas |
T |
C |
2: 174,141,988 (GRCm39) |
V719A |
possibly damaging |
Het |
| H13 |
C |
A |
2: 152,530,873 (GRCm39) |
D219E |
probably damaging |
Het |
| Hhatl |
G |
A |
9: 121,618,191 (GRCm39) |
T188I |
possibly damaging |
Het |
| Ifi27l2b |
C |
T |
12: 103,422,683 (GRCm39) |
A45T |
probably damaging |
Het |
| Kbtbd8 |
T |
C |
6: 95,103,874 (GRCm39) |
C585R |
possibly damaging |
Het |
| Limk2 |
A |
G |
11: 3,297,715 (GRCm39) |
S473P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,267,169 (GRCm39) |
G1620S |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,490 (GRCm39) |
T271A |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,476,871 (GRCm39) |
S759P |
possibly damaging |
Het |
| Mybphl |
G |
T |
3: 108,282,952 (GRCm39) |
V247F |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,682,815 (GRCm39) |
V1120D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,569,821 (GRCm39) |
N271S |
probably benign |
Het |
| Napepld |
C |
T |
5: 21,875,561 (GRCm39) |
V328I |
probably damaging |
Het |
| Nucb1 |
A |
G |
7: 45,148,159 (GRCm39) |
V218A |
probably benign |
Het |
| Nup107 |
A |
T |
10: 117,593,238 (GRCm39) |
D813E |
probably benign |
Het |
| Or14j3 |
T |
A |
17: 37,901,053 (GRCm39) |
K64* |
probably null |
Het |
| Or5g29 |
T |
A |
2: 85,421,279 (GRCm39) |
Y132N |
probably damaging |
Het |
| Or6c35 |
A |
T |
10: 129,168,794 (GRCm39) |
T15S |
probably damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,678 (GRCm39) |
S52G |
possibly damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,907,602 (GRCm39) |
I289T |
probably benign |
Het |
| Parg |
A |
G |
14: 31,960,569 (GRCm39) |
I600V |
probably benign |
Het |
| Patj |
T |
C |
4: 98,393,991 (GRCm39) |
F975L |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,218 (GRCm39) |
T3A |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,248,108 (GRCm39) |
E464G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,800,341 (GRCm39) |
V3034D |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,447,944 (GRCm39) |
E869G |
probably damaging |
Het |
| Plek |
T |
A |
11: 16,945,311 (GRCm39) |
L29F |
possibly damaging |
Het |
| Prelp |
A |
G |
1: 133,842,416 (GRCm39) |
L243P |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,621,930 (GRCm39) |
D231E |
probably benign |
Het |
| Riok1 |
A |
G |
13: 38,244,016 (GRCm39) |
E514G |
probably benign |
Het |
| Rmdn2 |
T |
C |
17: 79,928,790 (GRCm39) |
M14T |
probably benign |
Het |
| Rorb |
G |
A |
19: 18,939,499 (GRCm39) |
Q228* |
probably null |
Het |
| Scmh1 |
T |
A |
4: 120,340,827 (GRCm39) |
M171K |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,392,809 (GRCm39) |
L261P |
probably damaging |
Het |
| Senp7 |
A |
T |
16: 55,971,652 (GRCm39) |
N263I |
probably benign |
Het |
| Slc11a1 |
G |
T |
1: 74,419,041 (GRCm39) |
A162S |
probably benign |
Het |
| Slc6a17 |
A |
G |
3: 107,384,685 (GRCm39) |
V305A |
probably damaging |
Het |
| Snph |
A |
T |
2: 151,435,422 (GRCm39) |
V502E |
probably damaging |
Het |
| Sost |
G |
T |
11: 101,854,892 (GRCm39) |
A139E |
possibly damaging |
Het |
| Srp54a |
A |
T |
12: 55,136,061 (GRCm39) |
E25D |
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,636,940 (GRCm39) |
C213S |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,807,180 (GRCm39) |
Y4* |
probably null |
Het |
| Tmem63c |
T |
G |
12: 87,103,361 (GRCm39) |
I45S |
probably benign |
Het |
| Ttbk1 |
C |
T |
17: 46,757,998 (GRCm39) |
G879S |
probably damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,022,952 (GRCm39) |
H37R |
probably damaging |
Het |
| Vmn1r236 |
T |
C |
17: 21,507,053 (GRCm39) |
L57P |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,192,453 (GRCm39) |
E675V |
unknown |
Het |
| Wnt10b |
T |
C |
15: 98,674,609 (GRCm39) |
T43A |
probably damaging |
Het |
| Wnt8a |
C |
A |
18: 34,680,163 (GRCm39) |
T176K |
probably benign |
Het |
| Zfp937 |
T |
A |
2: 150,080,452 (GRCm39) |
C161S |
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 |
|
|
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 |
|
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'- GTCCTGCAAGCACTTTACTG -3'
(R):5'- GGCTGATAATCCAAGGGTCTC -3'
Sequencing Primer
(F):5'- TGCAAGCACTTTACTGACTGAAC -3'
(R):5'- AATCCAAGGGTCTCTTTCATTTTCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation