Incidental Mutation 'R7455:Cfap69'
| ID |
578061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap69
|
| Ensembl Gene |
ENSMUSG00000040473 |
| Gene Name |
cilia and flagella associated protein 69 |
| Synonyms |
A330021E22Rik |
| MMRRC Submission |
045529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5629284-5714232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 5675873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 247
(H247P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054865]
[ENSMUST00000061008]
[ENSMUST00000132510]
[ENSMUST00000135252]
[ENSMUST00000196165]
|
| AlphaFold |
Q8BH53 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054865
AA Change: H247P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: H247P
| 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: H247P
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: H247P
| 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: H247P
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: H247P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196165
AA Change: H247P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: H247P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
C |
T |
7: 76,074,503 (GRCm39) |
H646Y |
unknown |
Het |
| Ak5 |
C |
T |
3: 152,187,209 (GRCm39) |
R426H |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,022,792 (GRCm39) |
V1207A |
probably benign |
Het |
| Asph |
A |
T |
4: 9,531,732 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
G |
10: 122,285,169 (GRCm39) |
C154G |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,339,262 (GRCm39) |
Q283R |
probably benign |
Het |
| Cad |
C |
T |
5: 31,231,506 (GRCm39) |
P1743S |
probably damaging |
Het |
| Ccdc137 |
T |
G |
11: 120,350,985 (GRCm39) |
M129R |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,142,003 (GRCm39) |
I3028T |
possibly damaging |
Het |
| Cep68 |
T |
A |
11: 20,180,571 (GRCm39) |
I687F |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,464,154 (GRCm39) |
I262N |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,225,147 (GRCm39) |
|
probably benign |
Het |
| Cideb |
T |
C |
14: 55,992,292 (GRCm39) |
T134A |
probably damaging |
Het |
| Cilp2 |
A |
T |
8: 70,333,721 (GRCm39) |
D1092E |
probably damaging |
Het |
| Cptp |
G |
A |
4: 155,950,957 (GRCm39) |
R170C |
probably damaging |
Het |
| Cysrt1 |
A |
G |
2: 25,129,422 (GRCm39) |
L30S |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,553,394 (GRCm39) |
V754A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,161 (GRCm39) |
V411A |
probably benign |
Het |
| Fer1l5 |
A |
T |
1: 36,428,064 (GRCm39) |
T453S |
probably benign |
Het |
| Fnbp4 |
ACCACCTCCACCTCCACCTCC |
ACCACCTCCACCTCCACCTCCACCTCC |
2: 90,608,159 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,479,701 (GRCm39) |
|
probably null |
Het |
| Gm13941 |
A |
G |
2: 110,925,085 (GRCm39) |
F173L |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,554,915 (GRCm39) |
A1654T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,798,332 (GRCm39) |
I840N |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,703,657 (GRCm39) |
I746N |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,361,692 (GRCm39) |
H448N |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,421,507 (GRCm39) |
Y581* |
probably null |
Het |
| Mark1 |
T |
A |
1: 184,651,947 (GRCm39) |
E186V |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,681,775 (GRCm39) |
V304E |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,935,705 (GRCm39) |
D1607G |
probably damaging |
Het |
| Mup18 |
A |
G |
4: 61,592,171 (GRCm39) |
V31A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,317,105 (GRCm39) |
C11* |
probably null |
Het |
| Nedd1 |
A |
T |
10: 92,536,787 (GRCm39) |
L172M |
probably benign |
Het |
| Nim1k |
G |
A |
13: 120,173,995 (GRCm39) |
R300W |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,204 (GRCm39) |
F289L |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,434 (GRCm39) |
P279Q |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,900,150 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or8c8 |
T |
C |
9: 38,165,550 (GRCm39) |
V276A |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,931,432 (GRCm39) |
Y351H |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,876,239 (GRCm39) |
V118G |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,913,643 (GRCm39) |
Y1014H |
unknown |
Het |
| Pmp22 |
A |
G |
11: 63,025,339 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
T |
A |
6: 146,917,848 (GRCm39) |
F501L |
probably damaging |
Het |
| Rgl2 |
G |
A |
17: 34,151,657 (GRCm39) |
A234T |
probably benign |
Het |
| Rhpn2 |
G |
A |
7: 35,070,669 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,559,211 (GRCm39) |
K3058E |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,452,602 (GRCm39) |
Q539L |
possibly damaging |
Het |
| Scgn |
G |
A |
13: 24,150,848 (GRCm39) |
R168C |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,463,832 (GRCm39) |
Y38C |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,766 (GRCm39) |
V709I |
probably benign |
Het |
| Slc1a2 |
A |
T |
2: 102,566,299 (GRCm39) |
M10L |
probably benign |
Het |
| Sox6 |
T |
G |
7: 115,088,904 (GRCm39) |
I653L |
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,196,559 (GRCm39) |
I166V |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,067,025 (GRCm39) |
Y2152H |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,101,729 (GRCm39) |
N340S |
probably benign |
Het |
| Tmem198 |
G |
A |
1: 75,456,430 (GRCm39) |
R28Q |
unknown |
Het |
| Tut7 |
T |
C |
13: 59,969,871 (GRCm39) |
Y8C |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,624,014 (GRCm39) |
D102G |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,425,267 (GRCm39) |
M529V |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,581,984 (GRCm39) |
H310R |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,575 (GRCm39) |
S21P |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,759,212 (GRCm39) |
H486Y |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,907,127 (GRCm39) |
V431I |
probably 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 |
|
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 |
|
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'- AAATGCAGCCTTCAGATGAATC -3'
(R):5'- TTCTGAAAGTCCTGCAGCATC -3'
Sequencing Primer
(F):5'- CTGAACACAGATTCAAAGTTGTGG -3'
(R):5'- GAAAGTCCTGCAGCATCTCTCTAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation