Incidental Mutation 'R8478:Cfap43'
| ID |
657405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap43
|
| Ensembl Gene |
ENSMUSG00000044948 |
| Gene Name |
cilia and flagella associated protein 43 |
| Synonyms |
D19Ertd652e, 4632415N18Rik, Wdr96, 4930428C11Rik, 4930463G05Rik |
| MMRRC Submission |
067922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47764515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 817
(I817V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160247]
|
| AlphaFold |
E9Q7R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160247
AA Change: I817V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: I817V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
36 |
N/A |
INTRINSIC |
|
Blast:WD40
|
70 |
111 |
6e-7 |
BLAST |
|
Blast:WD40
|
115 |
156 |
1e-5 |
BLAST |
|
Blast:WD40
|
162 |
197 |
8e-10 |
BLAST |
|
WD40
|
349 |
388 |
1.07e0 |
SMART |
|
Blast:WD40
|
392 |
432 |
3e-13 |
BLAST |
|
WD40
|
435 |
473 |
3.96e1 |
SMART |
|
WD40
|
479 |
518 |
3.82e1 |
SMART |
|
Blast:WD40
|
638 |
683 |
8e-17 |
BLAST |
|
Blast:WD40
|
689 |
728 |
1e-17 |
BLAST |
|
low complexity region
|
766 |
781 |
N/A |
INTRINSIC |
|
coiled coil region
|
855 |
886 |
N/A |
INTRINSIC |
|
coiled coil region
|
925 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
981 |
N/A |
INTRINSIC |
|
coiled coil region
|
1170 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1259 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1529 |
N/A |
INTRINSIC |
|
coiled coil region
|
1652 |
1671 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
T |
9: 107,805,844 (GRCm39) |
I56F |
possibly damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,942,348 (GRCm39) |
R1357L |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,961 (GRCm39) |
D27V |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,175 (GRCm39) |
E986G |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,400,818 (GRCm39) |
L717Q |
possibly damaging |
Het |
| Arl8b |
A |
G |
6: 108,760,285 (GRCm39) |
T24A |
possibly damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,047,502 (GRCm39) |
I718T |
probably damaging |
Het |
| Atp6v0e2 |
T |
A |
6: 48,517,031 (GRCm39) |
N70K |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,115,086 (GRCm39) |
S810G |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,605,488 (GRCm39) |
*173S |
probably null |
Het |
| Bltp1 |
A |
T |
3: 37,087,426 (GRCm39) |
D511V |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,317,278 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,487,850 (GRCm39) |
K186E |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Chsy1 |
C |
T |
7: 65,820,748 (GRCm39) |
H328Y |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,372,522 (GRCm39) |
S713T |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,708,400 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,332,001 (GRCm39) |
N86S |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,593,444 (GRCm39) |
T215A |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,987,944 (GRCm39) |
|
probably null |
Het |
| Fosl1 |
T |
C |
19: 5,504,947 (GRCm39) |
S145P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,187 (GRCm39) |
V160E |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,505 (GRCm39) |
K177* |
probably null |
Het |
| Gria1 |
T |
C |
11: 57,200,668 (GRCm39) |
Y782H |
probably damaging |
Het |
| Gria4 |
C |
T |
9: 4,793,882 (GRCm39) |
E59K |
probably damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,575,919 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,647,330 (GRCm39) |
Y358F |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,688,600 (GRCm39) |
G47D |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,098,064 (GRCm39) |
D967G |
probably damaging |
Het |
| Nav2 |
G |
T |
7: 49,111,733 (GRCm39) |
M746I |
probably damaging |
Het |
| Niban1 |
C |
A |
1: 151,512,263 (GRCm39) |
T55K |
possibly damaging |
Het |
| Nmnat1 |
A |
G |
4: 149,557,841 (GRCm39) |
I67T |
possibly damaging |
Het |
| Nub1 |
G |
T |
5: 24,906,422 (GRCm39) |
R316L |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,164,869 (GRCm39) |
V214A |
probably damaging |
Het |
| Or52n5 |
C |
A |
7: 104,588,477 (GRCm39) |
S248Y |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,285,146 (GRCm39) |
D907E |
unknown |
Het |
| Pik3c2a |
A |
T |
7: 116,017,584 (GRCm39) |
S58T |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,505,997 (GRCm39) |
N703S |
probably benign |
Het |
| Polr3c |
G |
A |
3: 96,624,066 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,185,318 (GRCm39) |
G61R |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,759,287 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,466,788 (GRCm39) |
C90S |
probably benign |
Het |
| Prokr1 |
A |
G |
6: 87,558,330 (GRCm39) |
Y352H |
probably benign |
Het |
| Rhod |
C |
T |
19: 4,476,719 (GRCm39) |
R134H |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,762,895 (GRCm39) |
R110W |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,590,871 (GRCm39) |
M460K |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,815,963 (GRCm39) |
S455G |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,193,811 (GRCm39) |
H371Q |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,786,432 (GRCm39) |
M335T |
probably benign |
Het |
| Suox |
A |
G |
10: 128,506,921 (GRCm39) |
V369A |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,900,666 (GRCm39) |
I514V |
probably benign |
Het |
| Tie1 |
A |
T |
4: 118,341,979 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
T |
C |
3: 83,805,769 (GRCm39) |
E1558G |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,698,386 (GRCm39) |
H45Q |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,870,857 (GRCm39) |
S327P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,175,429 (GRCm39) |
V1176M |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,524,892 (GRCm39) |
M2197T |
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,085,071 (GRCm39) |
C272F |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,636 (GRCm39) |
N771K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,257 (GRCm39) |
F691I |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,340,281 (GRCm39) |
Q64R |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,544 (GRCm39) |
L760F |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,247,629 (GRCm39) |
|
probably null |
Het |
| Xdh |
C |
A |
17: 74,213,053 (GRCm39) |
E863D |
probably benign |
Het |
| Ykt6 |
A |
G |
11: 5,912,407 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,251,745 (GRCm39) |
*321W |
probably null |
Het |
|
| Other mutations in Cfap43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Cfap43
|
APN |
19 |
47,818,914 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL00325:Cfap43
|
APN |
19 |
47,811,627 (GRCm39) |
splice site |
probably benign |
|
|
IGL00918:Cfap43
|
APN |
19 |
47,885,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Cfap43
|
APN |
19 |
47,784,105 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01404:Cfap43
|
APN |
19 |
47,784,105 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01656:Cfap43
|
APN |
19 |
47,740,339 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01738:Cfap43
|
APN |
19 |
47,785,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02168:Cfap43
|
APN |
19 |
47,740,362 (GRCm39) |
splice site |
probably benign |
|
|
IGL02225:Cfap43
|
APN |
19 |
47,800,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02308:Cfap43
|
APN |
19 |
47,736,463 (GRCm39) |
missense |
probably benign |
|
|
IGL02354:Cfap43
|
APN |
19 |
47,885,852 (GRCm39) |
nonsense |
probably null |
|
|
IGL02361:Cfap43
|
APN |
19 |
47,885,852 (GRCm39) |
nonsense |
probably null |
|
|
IGL03283:Cfap43
|
APN |
19 |
47,779,851 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Cfap43
|
UTSW |
19 |
47,740,294 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03046:Cfap43
|
UTSW |
19 |
47,804,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Cfap43
|
UTSW |
19 |
47,885,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Cfap43
|
UTSW |
19 |
47,785,642 (GRCm39) |
splice site |
probably benign |
|
|
R0421:Cfap43
|
UTSW |
19 |
47,824,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0433:Cfap43
|
UTSW |
19 |
47,814,210 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0576:Cfap43
|
UTSW |
19 |
47,785,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0646:Cfap43
|
UTSW |
19 |
47,752,115 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0740:Cfap43
|
UTSW |
19 |
47,824,243 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0836:Cfap43
|
UTSW |
19 |
47,804,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0899:Cfap43
|
UTSW |
19 |
47,736,433 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1171:Cfap43
|
UTSW |
19 |
47,824,150 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1271:Cfap43
|
UTSW |
19 |
47,736,387 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1271:Cfap43
|
UTSW |
19 |
47,728,183 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1371:Cfap43
|
UTSW |
19 |
47,824,045 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1469:Cfap43
|
UTSW |
19 |
47,885,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Cfap43
|
UTSW |
19 |
47,752,291 (GRCm39) |
splice site |
probably null |
|
|
R1625:Cfap43
|
UTSW |
19 |
47,739,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Cfap43
|
UTSW |
19 |
47,761,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1690:Cfap43
|
UTSW |
19 |
47,739,505 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1820:Cfap43
|
UTSW |
19 |
47,885,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1891:Cfap43
|
UTSW |
19 |
47,802,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1956:Cfap43
|
UTSW |
19 |
47,885,649 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1958:Cfap43
|
UTSW |
19 |
47,885,649 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2110:Cfap43
|
UTSW |
19 |
47,824,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Cfap43
|
UTSW |
19 |
47,758,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Cfap43
|
UTSW |
19 |
47,761,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3691:Cfap43
|
UTSW |
19 |
47,885,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3765:Cfap43
|
UTSW |
19 |
47,824,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3917:Cfap43
|
UTSW |
19 |
47,886,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3924:Cfap43
|
UTSW |
19 |
47,785,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3925:Cfap43
|
UTSW |
19 |
47,785,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3947:Cfap43
|
UTSW |
19 |
47,754,418 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4256:Cfap43
|
UTSW |
19 |
47,770,844 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4385:Cfap43
|
UTSW |
19 |
47,785,568 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4395:Cfap43
|
UTSW |
19 |
47,740,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4405:Cfap43
|
UTSW |
19 |
47,728,236 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4541:Cfap43
|
UTSW |
19 |
47,736,454 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4583:Cfap43
|
UTSW |
19 |
47,825,655 (GRCm39) |
missense |
probably null |
0.99 |
|
R4690:Cfap43
|
UTSW |
19 |
47,736,298 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4852:Cfap43
|
UTSW |
19 |
47,885,550 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5185:Cfap43
|
UTSW |
19 |
47,768,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5192:Cfap43
|
UTSW |
19 |
47,814,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Cfap43
|
UTSW |
19 |
47,814,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Cfap43
|
UTSW |
19 |
47,885,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Cfap43
|
UTSW |
19 |
47,885,987 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5425:Cfap43
|
UTSW |
19 |
47,885,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5516:Cfap43
|
UTSW |
19 |
47,726,648 (GRCm39) |
splice site |
probably null |
|
|
R5644:Cfap43
|
UTSW |
19 |
47,784,114 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5844:Cfap43
|
UTSW |
19 |
47,784,135 (GRCm39) |
missense |
probably benign |
|
|
R5901:Cfap43
|
UTSW |
19 |
47,885,538 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5910:Cfap43
|
UTSW |
19 |
47,768,710 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5920:Cfap43
|
UTSW |
19 |
47,749,335 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5963:Cfap43
|
UTSW |
19 |
47,734,013 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6817:Cfap43
|
UTSW |
19 |
47,744,524 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6974:Cfap43
|
UTSW |
19 |
47,773,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7219:Cfap43
|
UTSW |
19 |
47,779,912 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7270:Cfap43
|
UTSW |
19 |
47,728,224 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7733:Cfap43
|
UTSW |
19 |
47,886,432 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7995:Cfap43
|
UTSW |
19 |
47,886,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Cfap43
|
UTSW |
19 |
47,761,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8176:Cfap43
|
UTSW |
19 |
47,784,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Cfap43
|
UTSW |
19 |
47,885,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Cfap43
|
UTSW |
19 |
47,754,274 (GRCm39) |
nonsense |
probably null |
|
|
R8333:Cfap43
|
UTSW |
19 |
47,885,765 (GRCm39) |
nonsense |
probably null |
|
|
R8353:Cfap43
|
UTSW |
19 |
47,735,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Cfap43
|
UTSW |
19 |
47,735,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Cfap43
|
UTSW |
19 |
47,886,363 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8676:Cfap43
|
UTSW |
19 |
47,736,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8928:Cfap43
|
UTSW |
19 |
47,804,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9190:Cfap43
|
UTSW |
19 |
47,726,293 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9426:Cfap43
|
UTSW |
19 |
47,814,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9450:Cfap43
|
UTSW |
19 |
47,886,310 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9491:Cfap43
|
UTSW |
19 |
47,800,505 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9515:Cfap43
|
UTSW |
19 |
47,773,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Cfap43
|
UTSW |
19 |
47,775,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCTGTTACCATACCCAGAAGG -3'
(R):5'- AACCTGTGCGTCATTGCTCC -3'
Sequencing Primer
(F):5'- CCAGAAGGTTAGGTCCTCACGTTG -3'
(R):5'- AGACAGGGTTTCTCTGTATAGCCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation