Incidental Mutation 'R0690:Cfap69'
ID |
61330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap69
|
Ensembl Gene |
ENSMUSG00000040473 |
Gene Name |
cilia and flagella associated protein 69 |
Synonyms |
A330021E22Rik |
MMRRC Submission |
038875-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0690 (G1)
|
Quality Score |
84 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 5713951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 27
(T27I)
|
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: T27I
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000053206 Gene: ENSMUSG00000040473 AA Change: T27I
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: T27I
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000051741 Gene: ENSMUSG00000040473 AA Change: T27I
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 |
probably damaging
Transcript: ENSMUST00000132510
AA Change: T27I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122569 Gene: ENSMUSG00000040473 AA Change: T27I
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135252
AA Change: T27I
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117518 Gene: ENSMUSG00000040473 AA Change: T27I
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148193
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196165
AA Change: T27I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143393 Gene: ENSMUSG00000040473 AA Change: T27I
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
97% (87/90) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,860,634 (GRCm39) |
|
probably benign |
Het |
Abi3 |
T |
C |
11: 95,724,460 (GRCm39) |
|
probably benign |
Het |
Adam2 |
T |
C |
14: 66,295,095 (GRCm39) |
N250S |
probably damaging |
Het |
Agbl4 |
T |
A |
4: 111,514,585 (GRCm39) |
I532K |
probably benign |
Het |
Agrn |
T |
G |
4: 156,258,910 (GRCm39) |
E905A |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,846,742 (GRCm39) |
|
probably benign |
Het |
Aifm2 |
A |
G |
10: 61,562,231 (GRCm39) |
N89S |
probably benign |
Het |
Arsj |
C |
T |
3: 126,231,833 (GRCm39) |
T193I |
probably damaging |
Het |
Ascc2 |
T |
A |
11: 4,632,933 (GRCm39) |
V702E |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,528,019 (GRCm39) |
S181P |
probably damaging |
Het |
Bcl7a |
G |
A |
5: 123,490,003 (GRCm39) |
V56I |
possibly damaging |
Het |
Cd160 |
T |
A |
3: 96,713,102 (GRCm39) |
D54V |
probably damaging |
Het |
Celsr2 |
C |
A |
3: 108,322,293 (GRCm39) |
R173M |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,426,924 (GRCm39) |
|
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,696,905 (GRCm39) |
|
probably benign |
Het |
Cldn8 |
C |
T |
16: 88,359,527 (GRCm39) |
V133M |
probably damaging |
Het |
Col2a1 |
A |
T |
15: 97,878,073 (GRCm39) |
V954E |
unknown |
Het |
Col6a4 |
T |
C |
9: 105,905,386 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,586,685 (GRCm39) |
M1779V |
probably benign |
Het |
Coq8b |
A |
G |
7: 26,941,674 (GRCm39) |
E253G |
probably benign |
Het |
Ctse |
T |
C |
1: 131,602,516 (GRCm39) |
|
probably benign |
Het |
Cyp2c29 |
T |
A |
19: 39,298,170 (GRCm39) |
N238K |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,723,848 (GRCm39) |
|
probably benign |
Het |
Dcc |
A |
T |
18: 71,942,275 (GRCm39) |
|
probably benign |
Het |
Dkk1 |
A |
G |
19: 30,526,745 (GRCm39) |
F12S |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,106,457 (GRCm39) |
V1760A |
probably benign |
Het |
Fam117b |
G |
A |
1: 59,997,512 (GRCm39) |
S288N |
possibly damaging |
Het |
Fam216a |
A |
T |
5: 122,505,709 (GRCm39) |
M110K |
probably damaging |
Het |
Frem3 |
T |
A |
8: 81,340,581 (GRCm39) |
I958N |
possibly damaging |
Het |
Gab1 |
T |
A |
8: 81,526,745 (GRCm39) |
N118Y |
probably damaging |
Het |
Gda |
T |
A |
19: 21,387,251 (GRCm39) |
I251L |
probably benign |
Het |
Gli2 |
C |
A |
1: 118,772,190 (GRCm39) |
R505L |
probably damaging |
Het |
Gm5093 |
A |
T |
17: 46,750,664 (GRCm39) |
I121N |
possibly damaging |
Het |
Gpnmb |
C |
T |
6: 49,024,949 (GRCm39) |
S327L |
probably benign |
Het |
Gpr156 |
T |
A |
16: 37,812,503 (GRCm39) |
Y280N |
probably damaging |
Het |
Gria4 |
A |
G |
9: 4,427,071 (GRCm39) |
Y790H |
probably damaging |
Het |
Guf1 |
C |
A |
5: 69,723,695 (GRCm39) |
|
probably null |
Het |
H6pd |
T |
C |
4: 150,067,030 (GRCm39) |
E452G |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,294,120 (GRCm39) |
Y487* |
probably null |
Het |
Ifi30 |
T |
A |
8: 71,217,593 (GRCm39) |
|
probably benign |
Het |
Klf13 |
G |
A |
7: 63,587,819 (GRCm39) |
A159V |
possibly damaging |
Het |
Med11 |
T |
A |
11: 70,344,052 (GRCm39) |
M124K |
possibly damaging |
Het |
Myom3 |
A |
G |
4: 135,515,737 (GRCm39) |
|
probably benign |
Het |
Nat2 |
A |
T |
8: 67,954,456 (GRCm39) |
I189F |
probably damaging |
Het |
Nhlrc4 |
C |
G |
17: 26,162,658 (GRCm39) |
G30R |
probably damaging |
Het |
Nkx3-2 |
G |
A |
5: 41,919,470 (GRCm39) |
R173C |
probably damaging |
Het |
Nox3 |
T |
C |
17: 3,745,839 (GRCm39) |
N23S |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,646,991 (GRCm39) |
Y708F |
probably damaging |
Het |
Nsun2 |
A |
G |
13: 69,777,661 (GRCm39) |
N409S |
probably benign |
Het |
Nucb2 |
T |
C |
7: 116,135,086 (GRCm39) |
|
probably benign |
Het |
Or13a26 |
T |
C |
7: 140,284,700 (GRCm39) |
F179L |
possibly damaging |
Het |
Or5be3 |
A |
G |
2: 86,864,226 (GRCm39) |
F113S |
probably damaging |
Het |
Or8b12 |
T |
C |
9: 37,657,513 (GRCm39) |
F28L |
probably benign |
Het |
Orai2 |
A |
T |
5: 136,190,453 (GRCm39) |
V52D |
probably damaging |
Het |
Pcyox1 |
A |
T |
6: 86,371,424 (GRCm39) |
M154K |
probably damaging |
Het |
Pik3r4 |
C |
A |
9: 105,531,175 (GRCm39) |
T492K |
possibly damaging |
Het |
Pmpca |
T |
A |
2: 26,281,109 (GRCm39) |
Y150N |
probably damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,803,820 (GRCm39) |
S446R |
probably damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,740,381 (GRCm39) |
I289T |
probably benign |
Het |
Pyroxd2 |
A |
G |
19: 42,716,081 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
G |
A |
3: 36,243,708 (GRCm39) |
T131M |
probably damaging |
Het |
Rab33b |
A |
G |
3: 51,400,838 (GRCm39) |
Y104C |
probably damaging |
Het |
Rad54l |
G |
T |
4: 115,956,947 (GRCm39) |
|
probably benign |
Het |
Rad9a |
A |
T |
19: 4,247,359 (GRCm39) |
|
probably null |
Het |
Slc1a5 |
A |
T |
7: 16,520,829 (GRCm39) |
M233L |
probably benign |
Het |
Slc47a2 |
C |
T |
11: 61,233,330 (GRCm39) |
V67I |
possibly damaging |
Het |
Slco1a5 |
T |
A |
6: 142,214,004 (GRCm39) |
Y39F |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,852,229 (GRCm39) |
V785A |
probably damaging |
Het |
Sp6 |
C |
T |
11: 96,912,370 (GRCm39) |
P28S |
possibly damaging |
Het |
Sptbn5 |
A |
G |
2: 119,893,156 (GRCm39) |
|
probably null |
Het |
Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
St8sia1 |
A |
G |
6: 142,774,980 (GRCm39) |
W200R |
probably damaging |
Het |
Stxbp1 |
C |
A |
2: 32,690,707 (GRCm39) |
|
probably benign |
Het |
Syne1 |
A |
G |
10: 4,983,138 (GRCm39) |
|
probably benign |
Het |
Thbs3 |
T |
A |
3: 89,127,472 (GRCm39) |
I371N |
possibly damaging |
Het |
Tll1 |
C |
T |
8: 64,527,324 (GRCm39) |
S399N |
probably damaging |
Het |
Tmem209 |
A |
C |
6: 30,505,833 (GRCm39) |
C114G |
probably null |
Het |
Tmem25 |
C |
T |
9: 44,706,811 (GRCm39) |
|
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,674,562 (GRCm39) |
I282T |
possibly damaging |
Het |
Trdmt1 |
T |
A |
2: 13,549,391 (GRCm39) |
H18L |
probably benign |
Het |
Trim63 |
A |
G |
4: 134,043,716 (GRCm39) |
T60A |
probably benign |
Het |
Trpv2 |
T |
C |
11: 62,475,502 (GRCm39) |
|
probably null |
Het |
Ubr2 |
A |
T |
17: 47,249,579 (GRCm39) |
I1591K |
probably damaging |
Het |
Use1 |
A |
T |
8: 71,819,709 (GRCm39) |
|
probably benign |
Het |
Zfp850 |
A |
T |
7: 27,684,642 (GRCm39) |
C35S |
possibly 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 |
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 |
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'- ATGAGAACCACGCAGCTAGAGTCC -3'
(R):5'- TAGCTCAGCAGCGTGTTTTCTGCC -3'
Sequencing Primer
(F):5'- AGTCCCCAGACAGATTGGTTG -3'
(R):5'- TTTTCTGCCAGGGCTCG -3'
|
Posted On |
2013-07-30 |