Incidental Mutation 'R6148:Cfap69'
| ID |
489006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
044295-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6148 (G1)
|
| Quality Score |
126.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5713996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 12
(D12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000115426]
[ENSMUST00000115427]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148193]
[ENSMUST00000196165]
[ENSMUST00000164219]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054865
AA Change: D12G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: D12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000061008
AA Change: D12G
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: D12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115426
|
| SMART Domains |
Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F420_oxidored
|
31 |
118 |
4e-18 |
PFAM |
|
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
258 |
406 |
1.5e-22 |
PFAM |
|
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115427
|
| SMART Domains |
Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F420_oxidored
|
31 |
118 |
2.3e-17 |
PFAM |
|
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
258 |
401 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132510
AA Change: D12G
|
| SMART Domains |
Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
AA Change: D12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135252
AA Change: D12G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: D12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
AA Change: D12G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: D12G
| 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: ENSMUST00000198121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164219
|
| SMART Domains |
Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F420_oxidored
|
31 |
118 |
4e-18 |
PFAM |
|
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
258 |
406 |
1.5e-22 |
PFAM |
|
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
95% (61/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,234,200 (GRCm39) |
C1067S |
possibly damaging |
Het |
| AAdacl4fm3 |
T |
C |
4: 144,447,887 (GRCm39) |
T30A |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,834,688 (GRCm39) |
S952R |
possibly damaging |
Het |
| Ano9 |
A |
G |
7: 140,686,698 (GRCm39) |
Y429H |
probably damaging |
Het |
| Bbs7 |
C |
A |
3: 36,667,415 (GRCm39) |
R7L |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,240 (GRCm39) |
V206A |
probably damaging |
Het |
| Ccdc73 |
T |
G |
2: 104,822,482 (GRCm39) |
S810R |
possibly damaging |
Het |
| Cd177 |
A |
T |
7: 24,443,698 (GRCm39) |
L800* |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,630,316 (GRCm39) |
|
probably null |
Het |
| Cep78 |
G |
A |
19: 15,959,150 (GRCm39) |
R95* |
probably null |
Het |
| Cpne7 |
A |
G |
8: 123,854,171 (GRCm39) |
D286G |
probably benign |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Cxcl5 |
A |
T |
5: 90,907,565 (GRCm39) |
I46L |
probably benign |
Het |
| Cyp19a1 |
C |
T |
9: 54,087,540 (GRCm39) |
G59D |
probably damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,742 (GRCm39) |
D35G |
probably damaging |
Het |
| Defa41 |
A |
G |
8: 21,692,428 (GRCm39) |
N83S |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,939,409 (GRCm39) |
Y279C |
probably damaging |
Het |
| Fes |
A |
G |
7: 80,030,044 (GRCm39) |
L578P |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,494,229 (GRCm39) |
S1248P |
probably damaging |
Het |
| Fmo1 |
T |
G |
1: 162,679,088 (GRCm39) |
S53R |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,931,804 (GRCm39) |
M313K |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,675,474 (GRCm39) |
C578R |
probably damaging |
Het |
| Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,431,323 (GRCm39) |
R216G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,475,575 (GRCm39) |
T570S |
probably benign |
Het |
| Gucy2d |
A |
T |
7: 98,093,030 (GRCm39) |
I136L |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,240,218 (GRCm39) |
V294E |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,535,958 (GRCm39) |
L324P |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,613,740 (GRCm39) |
R251C |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,701,567 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
G |
A |
4: 129,543,099 (GRCm39) |
Q439* |
probably null |
Het |
| Mark4 |
A |
T |
7: 19,163,441 (GRCm39) |
S563T |
probably benign |
Het |
| Mrpl21 |
A |
T |
19: 3,333,084 (GRCm39) |
I5L |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,189,839 (GRCm39) |
T815I |
probably damaging |
Het |
| Olfr515-ps1 |
A |
T |
7: 108,444,178 (GRCm39) |
|
probably null |
Het |
| Or10d4c |
G |
T |
9: 39,558,555 (GRCm39) |
D178Y |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,778 (GRCm39) |
N303S |
probably benign |
Het |
| Or4c15 |
C |
T |
2: 88,760,597 (GRCm39) |
V21I |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,289 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Os9 |
T |
C |
10: 126,935,812 (GRCm39) |
D280G |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,283 (GRCm39) |
N463S |
probably damaging |
Het |
| Pex19 |
G |
A |
1: 171,961,606 (GRCm39) |
E271K |
probably damaging |
Het |
| Ppdpf |
G |
A |
2: 180,829,641 (GRCm39) |
S32N |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,859,477 (GRCm39) |
I1271T |
probably benign |
Het |
| Rbbp4 |
T |
C |
4: 129,215,751 (GRCm39) |
T262A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,770 (GRCm39) |
S171T |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,992,612 (GRCm39) |
T689A |
probably damaging |
Het |
| Unc13c |
G |
C |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,090 (GRCm39) |
I250V |
probably benign |
Het |
| Vmn2r55 |
C |
A |
7: 12,402,069 (GRCm39) |
L406F |
probably benign |
Het |
| Wdcp |
T |
C |
12: 4,900,621 (GRCm39) |
V159A |
possibly damaging |
Het |
| Zbtb3 |
C |
T |
19: 8,781,560 (GRCm39) |
A391V |
probably benign |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
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 |
|
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'- GGATCAGCTGGGCTATCATTATC -3'
(R):5'- TGGGCACTAACAGCAGTTGG -3'
Sequencing Primer
(F):5'- ACAGGTTCCCAAATCTCATTCTGG -3'
(R):5'- ACAGCAGTTGGATGTCCG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation