Incidental Mutation 'R6870:Cfap69'
| ID |
536134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
044967-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6870 (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 5671958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 317
(T317A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148347]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054865
AA Change: T317A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: T317A
| 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: T317A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: T317A
| 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 benign
Transcript: ENSMUST00000135252
AA Change: T317A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: T317A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148347
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
AA Change: T317A
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: T317A
| 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: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
72% (39/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,020,608 (GRCm39) |
Y62C |
probably benign |
Het |
| A1bg |
T |
C |
15: 60,791,564 (GRCm39) |
T291A |
probably damaging |
Het |
| Abcb11 |
A |
G |
2: 69,115,642 (GRCm39) |
I574T |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,929,000 (GRCm39) |
Y17F |
possibly damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,478 (GRCm39) |
L516* |
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,885,321 (GRCm39) |
S619P |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,347,261 (GRCm39) |
V65A |
probably benign |
Het |
| Calm3 |
T |
A |
7: 16,653,568 (GRCm39) |
Q9L |
probably benign |
Het |
| Cd300c2 |
C |
T |
11: 114,891,503 (GRCm39) |
D124N |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,390 (GRCm39) |
T958A |
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,809,487 (GRCm39) |
S956P |
possibly damaging |
Het |
| Cluh |
T |
A |
11: 74,556,210 (GRCm39) |
I887K |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,457 (GRCm39) |
V228E |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,924,248 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
A |
14: 30,993,018 (GRCm39) |
K2959* |
probably null |
Het |
| Dnttip2 |
T |
A |
3: 122,069,457 (GRCm39) |
V224E |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,907,479 (GRCm39) |
P1071L |
probably benign |
Het |
| E030025P04Rik |
T |
A |
11: 109,030,993 (GRCm39) |
H84L |
unknown |
Het |
| Elac2 |
A |
T |
11: 64,890,589 (GRCm39) |
S698C |
probably null |
Het |
| Elf2 |
A |
T |
3: 51,201,586 (GRCm39) |
*88R |
probably null |
Het |
| Fastkd1 |
T |
A |
2: 69,538,958 (GRCm39) |
I143L |
probably benign |
Het |
| Fbxw10 |
C |
T |
11: 62,746,193 (GRCm39) |
R366C |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,329 (GRCm39) |
M57V |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,273,444 (GRCm39) |
S129G |
probably damaging |
Het |
| Gnat2 |
A |
C |
3: 108,002,947 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
C |
A |
16: 36,738,565 (GRCm39) |
F2301L |
probably damaging |
Het |
| Il18bp |
T |
C |
7: 101,666,518 (GRCm39) |
T2A |
possibly damaging |
Het |
| Kpna2 |
T |
C |
11: 106,883,520 (GRCm39) |
|
probably null |
Het |
| Lrrfip2 |
A |
T |
9: 111,045,187 (GRCm39) |
|
probably benign |
Het |
| Map4k1 |
T |
G |
7: 28,701,096 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,306,049 (GRCm39) |
V54A |
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,626,246 (GRCm39) |
I1112T |
probably benign |
Het |
| Or8b1 |
A |
C |
9: 38,399,382 (GRCm39) |
D19A |
probably benign |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,140 (GRCm39) |
V651D |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,186,356 (GRCm39) |
T571A |
possibly damaging |
Het |
| Phc3 |
A |
G |
3: 30,990,910 (GRCm39) |
S403P |
probably damaging |
Het |
| Prl7b1 |
T |
C |
13: 27,788,516 (GRCm39) |
E113G |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,480,593 (GRCm39) |
M744R |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,346,156 (GRCm39) |
D1556G |
probably damaging |
Het |
| Septin1 |
C |
T |
7: 126,816,876 (GRCm39) |
V46M |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,606,197 (GRCm39) |
Q127K |
probably damaging |
Het |
| Siah1a |
A |
G |
8: 87,451,653 (GRCm39) |
V277A |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,733,846 (GRCm38) |
D85E |
probably damaging |
Het |
| Slc5a12 |
A |
T |
2: 110,472,155 (GRCm39) |
I526F |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,231 (GRCm39) |
V834A |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,842,919 (GRCm39) |
S17C |
probably damaging |
Het |
| Tssk6 |
G |
A |
8: 70,355,673 (GRCm39) |
R239Q |
probably benign |
Het |
| Txnrd1 |
A |
G |
10: 82,709,042 (GRCm39) |
D80G |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,036,250 (GRCm39) |
F79S |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,769,014 (GRCm39) |
S503P |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,794,211 (GRCm39) |
C232S |
probably benign |
Het |
| Zeb2 |
G |
A |
2: 44,878,922 (GRCm39) |
T1080I |
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 |
|
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'- TGGCAGGATAGAGGTGACTACT -3'
(R):5'- TCAGCCTTCAGAGATTCAGAGATTT -3'
Sequencing Primer
(F):5'- CAGGATAGAGGTGACTACTGAGAC -3'
(R):5'- GCTGAGTTGCCATAAACATGCTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation