Incidental Mutation 'R3706:Cfap69'
| ID |
271761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
040699-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3706 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 5663843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 461
(Y461*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148347]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054865
AA Change: Y461*
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: Y461*
| 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 null
Transcript: ENSMUST00000061008
AA Change: Y404*
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: Y404*
| 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 null
Transcript: ENSMUST00000135252
AA Change: Y461*
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: Y461*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148347
AA Change: Y43*
|
| SMART Domains |
Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: Y43*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196165
AA Change: Y461*
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: Y461*
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,517,321 (GRCm39) |
K167M |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
| Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
| Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
| Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
C |
A |
9: 77,887,119 (GRCm39) |
A170E |
probably null |
Het |
| Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
| Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,578,008 (GRCm39) |
I138N |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Immt |
T |
C |
6: 71,839,346 (GRCm39) |
M226T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
| Mettl2 |
T |
A |
11: 105,030,552 (GRCm39) |
I376N |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,476 (GRCm39) |
L2Q |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
| Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
| Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,290 (GRCm39) |
I458V |
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 |
|
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'- GCCATGCACTCTTACCTATCAG -3'
(R):5'- TCCATTCTGAGACTAGGAAGAAAG -3'
Sequencing Primer
(F):5'- ATCAGTTGATGAATAACCCCTCTC -3'
(R):5'- TGGCATTCCCCTGTACTGGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation