Incidental Mutation 'R9422:Cfap69'
| ID |
712372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5699851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 63
(V63A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(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: V63A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: V63A
| 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: V63A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: V63A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132510
AA Change: V63A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
AA Change: V63A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135252
AA Change: V63A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: V63A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148193
AA Change: V17A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196165
AA Change: V63A
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: V63A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
689 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,667,153 (GRCm39) |
V209I |
|
Het |
| Adamts18 |
T |
A |
8: 114,501,910 (GRCm39) |
Y317F |
probably damaging |
Het |
| Adgrg6 |
C |
T |
10: 14,302,740 (GRCm39) |
R863H |
probably damaging |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,890,505 (GRCm39) |
K55N |
unknown |
Het |
| B3galnt2 |
A |
G |
13: 14,150,136 (GRCm39) |
T160A |
probably benign |
Het |
| Becn1 |
C |
A |
11: 101,192,832 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,764,444 (GRCm39) |
N777S |
possibly damaging |
Het |
| Cd302 |
T |
C |
2: 60,082,697 (GRCm39) |
Y209C |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,390,257 (GRCm39) |
I147N |
possibly damaging |
Het |
| Cmtm3 |
A |
T |
8: 105,067,358 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
G |
T |
8: 105,067,359 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,293,364 (GRCm39) |
|
probably null |
Het |
| Csn3 |
A |
G |
5: 88,077,872 (GRCm39) |
N126S |
probably benign |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,170,691 (GRCm39) |
H729Q |
possibly damaging |
Het |
| Dop1a |
C |
T |
9: 86,425,093 (GRCm39) |
H2138Y |
probably damaging |
Het |
| Fbxo2 |
T |
C |
4: 148,248,616 (GRCm39) |
L36P |
unknown |
Het |
| Gzmg |
T |
A |
14: 56,395,812 (GRCm39) |
Y49F |
probably benign |
Het |
| H2bc3 |
A |
G |
13: 23,930,940 (GRCm39) |
I55V |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,313,213 (GRCm39) |
T1818A |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,212,550 (GRCm39) |
S171P |
possibly damaging |
Het |
| Milr1 |
T |
A |
11: 106,657,805 (GRCm39) |
Y239N |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,553,102 (GRCm39) |
N4397S |
probably benign |
Het |
| Nell1 |
C |
A |
7: 49,712,387 (GRCm39) |
S69* |
probably null |
Het |
| Nme8 |
A |
G |
13: 19,859,918 (GRCm39) |
V234A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,054,668 (GRCm39) |
S2444G |
probably damaging |
Het |
| Odad3 |
T |
A |
9: 21,913,628 (GRCm39) |
H48L |
possibly damaging |
Het |
| Or5p75-ps1 |
A |
T |
7: 108,108,155 (GRCm39) |
K297N |
unknown |
Het |
| Or7g35 |
T |
A |
9: 19,495,968 (GRCm39) |
I45K |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,401 (GRCm39) |
|
probably benign |
Het |
| Pgm3 |
A |
T |
9: 86,443,938 (GRCm39) |
L322H |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,730 (GRCm39) |
F221L |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,982 (GRCm39) |
K79M |
probably damaging |
Het |
| Prkaa2 |
A |
G |
4: 104,909,195 (GRCm39) |
I83T |
probably benign |
Het |
| R3hdml |
A |
G |
2: 163,334,526 (GRCm39) |
T39A |
probably benign |
Het |
| Ralgds |
A |
G |
2: 28,435,184 (GRCm39) |
M447V |
probably benign |
Het |
| Rgs2 |
T |
C |
1: 143,878,783 (GRCm39) |
D40G |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,329,789 (GRCm39) |
M1176V |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,613,519 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
A |
T |
13: 76,278,447 (GRCm39) |
|
probably benign |
Het |
| Slc26a8 |
T |
C |
17: 28,857,560 (GRCm39) |
D861G |
possibly damaging |
Het |
| Slc4a8 |
A |
T |
15: 100,698,469 (GRCm39) |
I705F |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,946,996 (GRCm39) |
V576I |
probably damaging |
Het |
| Socs7 |
A |
G |
11: 97,253,973 (GRCm39) |
D169G |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,637,933 (GRCm39) |
V878A |
probably benign |
Het |
| Thop1 |
C |
T |
10: 80,916,001 (GRCm39) |
R395W |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,897 (GRCm39) |
H765Q |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,069 (GRCm39) |
M294L |
possibly damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,867 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,483,747 (GRCm39) |
S818P |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,430,850 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,321 (GRCm39) |
M330V |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,071 (GRCm39) |
Y725C |
probably damaging |
Het |
| Zhx3 |
C |
T |
2: 160,624,020 (GRCm39) |
S49N |
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 |
|
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 |
|
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'- ACATGGCTTGTGAGTCCTTG -3'
(R):5'- TGGGTCTCAAGCCCATTTG -3'
Sequencing Primer
(F):5'- CTTGTTACTACCACCATAGGAAGGG -3'
(R):5'- TGGGTGCAGCAGATCTCCTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation