Incidental Mutation 'R9179:Cfap69'
| ID |
696881 |
| 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 # |
R9179 (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 T
at 5676064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 210
(N210K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054865
AA Change: N210K
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: N210K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061008
AA Change: N210K
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: N210K
| 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 |
possibly damaging
Transcript: ENSMUST00000135252
AA Change: N210K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: N210K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196165
AA Change: N210K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: N210K
| 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 |
98% (54/55) |
| 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 |
|---|
| 1700013D24Rik |
T |
A |
6: 124,333,882 (GRCm39) |
M33L |
probably benign |
Het |
| 2310003L06Rik |
A |
G |
5: 88,119,890 (GRCm39) |
T216A |
probably benign |
Het |
| 9330161L09Rik |
A |
C |
12: 103,373,837 (GRCm39) |
C12G |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,788,929 (GRCm39) |
F57I |
possibly damaging |
Het |
| Amotl1 |
C |
A |
9: 14,461,787 (GRCm39) |
A809S |
possibly damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,414,011 (GRCm39) |
M121I |
probably benign |
Het |
| Aspm |
A |
G |
1: 139,404,453 (GRCm39) |
D1261G |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,469,658 (GRCm39) |
T502A |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
| Ccdc102a |
A |
G |
8: 95,639,748 (GRCm39) |
V182A |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,153,664 (GRCm39) |
A2309T |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,500,054 (GRCm39) |
S147P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,600,912 (GRCm39) |
S752P |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,654 (GRCm39) |
M235K |
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,919,185 (GRCm39) |
D336G |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,525 (GRCm39) |
I631T |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,353,591 (GRCm39) |
C199Y |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,273,495 (GRCm39) |
L360Q |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,708 (GRCm39) |
T190A |
probably benign |
Het |
| Fgfr3 |
G |
T |
5: 33,887,316 (GRCm39) |
V212L |
possibly damaging |
Het |
| Flnb |
C |
A |
14: 7,887,541 (GRCm38) |
C450* |
probably null |
Het |
| Gls |
T |
C |
1: 52,239,015 (GRCm39) |
Y362C |
probably damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Gns |
T |
C |
10: 121,216,080 (GRCm39) |
F276L |
|
Het |
| Grin2d |
A |
G |
7: 45,506,176 (GRCm39) |
S572P |
probably damaging |
Het |
| Impa2 |
C |
T |
18: 67,422,473 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
T |
7: 126,905,883 (GRCm39) |
D355V |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,297,521 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
A |
7: 43,618,715 (GRCm39) |
C31S |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,277,312 (GRCm39) |
V354E |
probably benign |
Het |
| Mettl21c |
T |
A |
1: 44,049,142 (GRCm39) |
Y135F |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,740,303 (GRCm39) |
T77A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,209,274 (GRCm39) |
N30D |
probably benign |
Het |
| Or1j11 |
T |
C |
2: 36,312,126 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,494 (GRCm39) |
K87* |
probably null |
Het |
| Otog |
C |
A |
7: 45,937,885 (GRCm39) |
P1865T |
possibly damaging |
Het |
| Pabpc1l |
T |
C |
2: 163,873,140 (GRCm39) |
S137P |
probably damaging |
Het |
| Pilrb1 |
C |
A |
5: 137,855,657 (GRCm39) |
W78L |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,214,085 (GRCm39) |
Y832C |
possibly damaging |
Het |
| Ppan |
C |
A |
9: 20,803,199 (GRCm39) |
Q424K |
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,087,782 (GRCm39) |
N544K |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,294 (GRCm39) |
E270G |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,961,155 (GRCm39) |
D246G |
possibly damaging |
Het |
| Rasef |
G |
A |
4: 73,662,356 (GRCm39) |
T198I |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,463 (GRCm39) |
H603R |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,482,490 (GRCm39) |
R179G |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,811,836 (GRCm39) |
L288P |
possibly damaging |
Het |
| Sel1l |
A |
T |
12: 91,778,726 (GRCm39) |
D696E |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,482 (GRCm39) |
K416R |
possibly damaging |
Het |
| Tmem132b |
A |
T |
5: 125,700,115 (GRCm39) |
M218L |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,791,881 (GRCm39) |
S1800P |
probably benign |
Het |
| Tpcn1 |
A |
C |
5: 120,680,015 (GRCm39) |
L576R |
probably damaging |
Het |
| Vmn2r34 |
T |
G |
7: 7,675,723 (GRCm39) |
Q555P |
possibly damaging |
Het |
| Vwa8 |
C |
T |
14: 79,335,801 (GRCm39) |
T1419I |
probably benign |
Het |
| Xrn2 |
T |
C |
2: 146,855,081 (GRCm39) |
Y14H |
probably benign |
Het |
| Zfp1007 |
A |
G |
5: 109,823,708 (GRCm39) |
C581R |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,382,376 (GRCm39) |
D241E |
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 |
|
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'- CTTGGGCTTTCACCATTAAAGTG -3'
(R):5'- TCTGTGCATTTATTTCAAGGCC -3'
Sequencing Primer
(F):5'- CACCATTAAAGTGCAATTAACTCCTG -3'
(R):5'- GCGATGATACTGTGCTACAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation