Incidental Mutation 'R1670:Cfap69'
| ID |
187539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
039706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1670 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5636409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 275
(S275T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000148347]
[ENSMUST00000155048]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054865
AA Change: S739T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: S739T
| 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 |
unknown
Transcript: ENSMUST00000124734
AA Change: S32T
|
| SMART Domains |
Protein: ENSMUSP00000119859
Gene: ENSMUSG00000040473
AA Change: S32T
| 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: ENSMUST00000148347
AA Change: S275T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: S275T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155048
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
AA Change: S568T
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: S568T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199314
|
| Meta Mutation Damage Score |
0.0883 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
97% (74/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,540,448 (GRCm39) |
V1497A |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,255,817 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,674,360 (GRCm39) |
S371T |
probably benign |
Het |
| Atr |
T |
A |
9: 95,743,509 (GRCm39) |
N49K |
probably benign |
Het |
| Bace2 |
G |
A |
16: 97,213,335 (GRCm39) |
M228I |
probably damaging |
Het |
| Bdp1 |
A |
C |
13: 100,163,941 (GRCm39) |
|
probably null |
Het |
| Calr |
A |
T |
8: 85,570,748 (GRCm39) |
D302E |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,164,228 (GRCm39) |
D340G |
probably benign |
Het |
| Car11 |
C |
T |
7: 45,352,949 (GRCm39) |
T236I |
possibly damaging |
Het |
| Cib2 |
G |
A |
9: 54,455,653 (GRCm39) |
R104W |
probably damaging |
Het |
| CN725425 |
T |
C |
15: 91,130,018 (GRCm39) |
S294P |
possibly damaging |
Het |
| Coro7 |
G |
A |
16: 4,446,097 (GRCm39) |
S876F |
possibly damaging |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Dennd6b |
C |
A |
15: 89,069,540 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,341 (GRCm39) |
Y979N |
possibly damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,554,299 (GRCm39) |
P187S |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,098 (GRCm39) |
I1772F |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,993,942 (GRCm39) |
I3976N |
possibly damaging |
Het |
| Ebi3 |
T |
C |
17: 56,261,479 (GRCm39) |
I125T |
probably damaging |
Het |
| Elfn2 |
C |
T |
15: 78,556,568 (GRCm39) |
A660T |
probably benign |
Het |
| F12 |
C |
T |
13: 55,569,346 (GRCm39) |
C209Y |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,782,187 (GRCm39) |
D413V |
probably damaging |
Het |
| Gdf10 |
T |
A |
14: 33,654,000 (GRCm39) |
I169N |
possibly damaging |
Het |
| Gdnf |
T |
C |
15: 7,845,130 (GRCm39) |
V41A |
probably benign |
Het |
| Gm9857 |
A |
T |
3: 108,847,478 (GRCm39) |
|
probably benign |
Het |
| Gpatch11 |
A |
G |
17: 79,146,529 (GRCm39) |
E58G |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,137 (GRCm39) |
V148A |
possibly damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,952,767 (GRCm39) |
I222T |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,404,496 (GRCm39) |
S227P |
probably damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,675,548 (GRCm39) |
S330P |
possibly damaging |
Het |
| Hycc1 |
T |
A |
5: 24,204,989 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ift122 |
T |
C |
6: 115,900,844 (GRCm39) |
V1054A |
probably benign |
Het |
| Il27 |
T |
A |
7: 126,188,647 (GRCm39) |
E175D |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,730,641 (GRCm39) |
S12T |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,403,605 (GRCm39) |
V576A |
probably benign |
Het |
| Mansc4 |
C |
G |
6: 146,976,689 (GRCm39) |
R309T |
possibly damaging |
Het |
| Med12l |
AACAGCA |
AACAGCAACAGCA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
| Mrpl16 |
C |
T |
19: 11,751,959 (GRCm39) |
R240* |
probably null |
Het |
| Muc17 |
A |
G |
5: 137,172,843 (GRCm39) |
V70A |
probably benign |
Het |
| Ndnf |
A |
G |
6: 65,680,054 (GRCm39) |
D111G |
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,704,384 (GRCm39) |
F688S |
probably damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,126 (GRCm39) |
M98K |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,230,667 (GRCm39) |
S1402P |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,467 (GRCm39) |
S242T |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,237 (GRCm39) |
S192T |
probably damaging |
Het |
| Or4f14b |
C |
T |
2: 111,775,264 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or52i2 |
A |
G |
7: 102,319,609 (GRCm39) |
T161A |
possibly damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,607 (GRCm39) |
N88K |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,790 (GRCm39) |
I91M |
possibly damaging |
Het |
| Or5m9b |
T |
A |
2: 85,905,594 (GRCm39) |
V170D |
probably benign |
Het |
| Parp10 |
A |
T |
15: 76,126,270 (GRCm39) |
V306E |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,723,343 (GRCm39) |
L1284P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,103,389 (GRCm39) |
I365F |
probably benign |
Het |
| Pnisr |
A |
G |
4: 21,865,893 (GRCm39) |
D294G |
probably damaging |
Het |
| Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
| Ptprn2 |
A |
C |
12: 116,685,792 (GRCm39) |
T84P |
possibly damaging |
Het |
| Rln1 |
C |
T |
19: 29,309,468 (GRCm39) |
E104K |
possibly damaging |
Het |
| Rnf38 |
A |
G |
4: 44,138,681 (GRCm39) |
S271P |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,368,660 (GRCm39) |
T398A |
probably benign |
Het |
| Rprd2 |
G |
T |
3: 95,672,115 (GRCm39) |
T1096K |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,212,199 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,548,945 (GRCm39) |
C140S |
probably damaging |
Het |
| Shpk |
A |
C |
11: 73,113,757 (GRCm39) |
D390A |
probably benign |
Het |
| Slc22a20 |
C |
T |
19: 6,022,876 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
A |
G |
5: 5,727,393 (GRCm39) |
V314A |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,111,289 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
G |
T |
2: 129,883,688 (GRCm39) |
E449* |
probably null |
Het |
| Tmem68 |
A |
C |
4: 3,560,627 (GRCm39) |
L186V |
probably damaging |
Het |
| Ttc41 |
T |
A |
10: 86,612,116 (GRCm39) |
W1130R |
possibly damaging |
Het |
| Ttpal |
T |
C |
2: 163,457,286 (GRCm39) |
F253L |
possibly damaging |
Het |
| Vmn2r99 |
G |
T |
17: 19,582,514 (GRCm39) |
V40F |
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,771,167 (GRCm39) |
V228M |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,661,268 (GRCm39) |
A369V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTATGACTTGTGGCTCTATCGC -3'
(R):5'- ATGACCCTGTAAGGACAACCTGGC -3'
Sequencing Primer
(F):5'- GAAACCCAAGGAGTCATATGTCTAC -3'
(R):5'- TAAGGACAACCTGGCAGGAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation