Incidental Mutation 'R4760:Cfap69'
| ID |
356787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
041974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5696939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 119
(C119Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000148193]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054865
AA Change: C119Y
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: C119Y
| 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: C119Y
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: C119Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132510
AA Change: C119Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
AA Change: C119Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135252
AA Change: C119Y
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: C119Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148193
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196165
AA Change: C119Y
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: C119Y
| 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
|
| Meta Mutation Damage Score |
0.1936 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
A |
G |
6: 60,379,086 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc2 |
A |
T |
19: 43,798,920 (GRCm39) |
Y512F |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,443,312 (GRCm39) |
I51N |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,633,748 (GRCm39) |
Y332C |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,615,566 (GRCm39) |
L317F |
probably damaging |
Het |
| Amn1 |
T |
C |
6: 149,086,611 (GRCm39) |
Y17C |
probably benign |
Het |
| Apoa5 |
T |
C |
9: 46,181,593 (GRCm39) |
V223A |
probably damaging |
Het |
| Best3 |
A |
T |
10: 116,860,699 (GRCm39) |
H653L |
probably benign |
Het |
| Btnl2 |
C |
A |
17: 34,582,169 (GRCm39) |
S245Y |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,366,867 (GRCm39) |
L116P |
probably damaging |
Het |
| Catsperg2 |
T |
A |
7: 29,405,060 (GRCm39) |
D698V |
probably damaging |
Het |
| Cd33 |
T |
C |
7: 43,178,919 (GRCm39) |
T307A |
probably benign |
Het |
| Cdk8 |
C |
T |
5: 146,229,476 (GRCm39) |
S230L |
probably benign |
Het |
| Chat |
T |
C |
14: 32,175,694 (GRCm39) |
N122S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,626,196 (GRCm39) |
|
probably benign |
Het |
| Cyp2j9 |
A |
T |
4: 96,457,028 (GRCm39) |
L481Q |
probably damaging |
Het |
| Dab1 |
A |
C |
4: 104,589,342 (GRCm39) |
S550R |
probably damaging |
Het |
| Dlgap2 |
A |
C |
8: 14,823,380 (GRCm39) |
Q533P |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,811,629 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Ets2 |
G |
A |
16: 95,520,087 (GRCm39) |
V438M |
probably damaging |
Het |
| Eva1c |
G |
A |
16: 90,701,138 (GRCm39) |
D258N |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,785,045 (GRCm39) |
H477R |
probably benign |
Het |
| Fga |
T |
G |
3: 82,938,821 (GRCm39) |
S399A |
probably benign |
Het |
| Fmo4 |
T |
A |
1: 162,637,396 (GRCm39) |
E32V |
probably damaging |
Het |
| Gm7204 |
T |
A |
16: 48,039,051 (GRCm39) |
|
noncoding transcript |
Het |
| Gpi-ps |
G |
A |
8: 5,690,473 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,286,336 (GRCm39) |
I548V |
probably damaging |
Het |
| Hsfy2 |
T |
C |
1: 56,676,349 (GRCm39) |
T63A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,922,352 (GRCm39) |
V1254A |
possibly damaging |
Het |
| Ighv8-4 |
A |
T |
12: 114,987,667 (GRCm39) |
D110E |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,446 (GRCm39) |
S101P |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Ipo5 |
T |
C |
14: 121,179,054 (GRCm39) |
V779A |
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,326,593 (GRCm39) |
T105I |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,018,857 (GRCm39) |
M670V |
probably damaging |
Het |
| Kdm8 |
T |
A |
7: 125,054,431 (GRCm39) |
|
probably null |
Het |
| Kics2 |
T |
C |
10: 121,575,912 (GRCm39) |
V11A |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,016 (GRCm39) |
I281V |
probably benign |
Het |
| Lins1 |
T |
G |
7: 66,364,435 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
T |
A |
12: 69,871,372 (GRCm39) |
I517L |
possibly damaging |
Het |
| Marchf2 |
G |
T |
17: 33,928,890 (GRCm39) |
T2K |
probably damaging |
Het |
| Mlkl |
C |
G |
8: 112,046,348 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
A |
G |
17: 57,209,630 (GRCm39) |
M160T |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,094,824 (GRCm39) |
A233T |
possibly damaging |
Het |
| Moxd2 |
C |
A |
6: 40,868,537 (GRCm39) |
T23N |
probably benign |
Het |
| Nop53 |
C |
A |
7: 15,676,812 (GRCm39) |
K100N |
probably benign |
Het |
| Nrg1 |
C |
A |
8: 32,408,228 (GRCm39) |
E2* |
probably null |
Het |
| Or52u1 |
T |
A |
7: 104,237,696 (GRCm39) |
H228Q |
probably benign |
Het |
| Pank4 |
A |
G |
4: 155,059,091 (GRCm39) |
D408G |
possibly damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,544,995 (GRCm39) |
W24R |
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,740,775 (GRCm39) |
T968I |
probably damaging |
Het |
| Pkib |
G |
T |
10: 57,584,246 (GRCm39) |
M19I |
probably benign |
Het |
| Ppy |
A |
G |
11: 101,991,345 (GRCm39) |
|
probably null |
Het |
| Pramel21 |
G |
A |
4: 143,343,801 (GRCm39) |
R367K |
probably benign |
Het |
| Prdx3 |
A |
C |
19: 60,861,621 (GRCm39) |
C39W |
possibly damaging |
Het |
| Qrfpr |
T |
G |
3: 36,276,073 (GRCm39) |
N106H |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,575,776 (GRCm39) |
T394M |
possibly damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,669 (GRCm39) |
L1371Q |
probably benign |
Het |
| Rbm12 |
A |
G |
2: 155,939,048 (GRCm39) |
L408P |
probably damaging |
Het |
| Rdx |
T |
C |
9: 51,977,174 (GRCm39) |
I141T |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,684,985 (GRCm39) |
V11E |
possibly damaging |
Het |
| Relch |
T |
A |
1: 105,649,030 (GRCm39) |
M723K |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,592,347 (GRCm39) |
S936P |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,102,065 (GRCm39) |
M403T |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc35g2 |
T |
G |
9: 100,435,549 (GRCm39) |
I41L |
probably benign |
Het |
| Slc39a12 |
G |
A |
2: 14,405,134 (GRCm39) |
S242N |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,801,076 (GRCm39) |
D535E |
probably damaging |
Het |
| Spata31d1a |
G |
T |
13: 59,849,459 (GRCm39) |
P890T |
probably damaging |
Het |
| Sync |
A |
G |
4: 129,187,232 (GRCm39) |
Q88R |
probably benign |
Het |
| Tdrp |
A |
G |
8: 14,024,527 (GRCm39) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,565,168 (GRCm39) |
C1170F |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,318,937 (GRCm39) |
D781E |
probably benign |
Het |
| Tnp2 |
T |
A |
16: 10,606,207 (GRCm39) |
T87S |
possibly damaging |
Het |
| Tpp2 |
T |
C |
1: 44,010,875 (GRCm39) |
V554A |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,521,735 (GRCm39) |
I431T |
probably damaging |
Het |
| Trav9d-4 |
A |
T |
14: 53,221,258 (GRCm39) |
H84L |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,276 (GRCm39) |
Y782F |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,547,567 (GRCm39) |
S231P |
probably damaging |
Het |
| Wdr83os |
A |
G |
8: 85,808,496 (GRCm39) |
S83G |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,885,234 (GRCm39) |
Q109L |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,864 (GRCm39) |
C148R |
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 |
|
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 |
|
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'- CATATGAGCGTGACTACAGATCAG -3'
(R):5'- ACAGTCCTCTTTAGACTTCAAACG -3'
Sequencing Primer
(F):5'- TGTTCAAATCCTGTCACCA -3'
(R):5'- CCTCTAAGAGATTTGGCACA -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation