Incidental Mutation 'IGL03046:Cfap43'
ID |
391888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap43
|
Ensembl Gene |
ENSMUSG00000044948 |
Gene Name |
cilia and flagella associated protein 43 |
Synonyms |
D19Ertd652e, 4632415N18Rik, Wdr96, 4930428C11Rik, 4930463G05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL03046 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47804302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 298
(E298V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160247]
|
AlphaFold |
E9Q7R9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000026048
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160247
AA Change: E298V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125007 Gene: ENSMUSG00000044948 AA Change: E298V
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160970
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (54/55) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,636,282 (GRCm39) |
M717K |
probably benign |
Het |
Acad12 |
C |
A |
5: 121,748,029 (GRCm39) |
V130L |
probably benign |
Het |
Cdca2 |
T |
C |
14: 67,937,471 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,389,332 (GRCm39) |
|
probably null |
Het |
Cic |
C |
T |
7: 24,990,500 (GRCm39) |
P1971S |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,761,681 (GRCm39) |
D611G |
probably benign |
Het |
Daglb |
C |
T |
5: 143,486,948 (GRCm39) |
P522L |
probably damaging |
Het |
Dclre1b |
A |
T |
3: 103,710,597 (GRCm39) |
I438K |
probably benign |
Het |
Ddx5 |
C |
A |
11: 106,675,871 (GRCm39) |
R273M |
probably damaging |
Het |
Eepd1 |
C |
T |
9: 25,393,981 (GRCm39) |
L82F |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Exoc6 |
T |
C |
19: 37,582,217 (GRCm39) |
|
probably null |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Foxs1 |
T |
C |
2: 152,774,484 (GRCm39) |
T190A |
probably benign |
Het |
Gje1 |
A |
G |
10: 14,592,374 (GRCm39) |
L136P |
probably damaging |
Het |
Hdac11 |
A |
G |
6: 91,145,827 (GRCm39) |
T176A |
probably benign |
Het |
Hhip |
C |
A |
8: 80,698,967 (GRCm39) |
V700L |
probably damaging |
Het |
Hps5 |
T |
C |
7: 46,426,463 (GRCm39) |
|
probably benign |
Het |
Itgb1bp1 |
T |
C |
12: 21,329,436 (GRCm39) |
S13G |
unknown |
Het |
Kcna1 |
A |
T |
6: 126,619,148 (GRCm39) |
L391M |
possibly damaging |
Het |
Kif1a |
C |
T |
1: 93,010,128 (GRCm39) |
V6M |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,801,639 (GRCm39) |
I39V |
probably benign |
Het |
Lpcat4 |
C |
A |
2: 112,072,334 (GRCm39) |
|
silent |
Het |
Ltn1 |
A |
T |
16: 87,202,509 (GRCm39) |
S1047R |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,694,495 (GRCm39) |
T1073A |
possibly damaging |
Het |
Megf10 |
G |
T |
18: 57,421,055 (GRCm39) |
A898S |
possibly damaging |
Het |
Mtmr6 |
T |
C |
14: 60,529,577 (GRCm39) |
|
probably null |
Het |
Mtnr1b |
T |
C |
9: 15,774,059 (GRCm39) |
I333M |
probably benign |
Het |
Muc5ac |
G |
T |
7: 141,348,950 (GRCm39) |
C463F |
probably benign |
Het |
Mycbpap |
G |
T |
11: 94,396,543 (GRCm39) |
T99N |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,728,534 (GRCm39) |
C824Y |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,303 (GRCm39) |
H311R |
probably damaging |
Het |
Nepro |
T |
A |
16: 44,552,509 (GRCm39) |
|
probably benign |
Het |
Nop56 |
A |
T |
2: 130,117,489 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
G |
6: 90,995,978 (GRCm39) |
|
probably benign |
Het |
Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
Or7g25 |
T |
A |
9: 19,160,441 (GRCm39) |
I85F |
probably damaging |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pgap6 |
A |
T |
17: 26,338,414 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
G |
1: 20,607,589 (GRCm39) |
D1089A |
possibly damaging |
Het |
Plb1 |
A |
G |
5: 32,485,756 (GRCm39) |
R847G |
probably damaging |
Het |
Pou6f2 |
A |
G |
13: 18,303,612 (GRCm39) |
|
probably benign |
Het |
Prss43 |
C |
G |
9: 110,660,049 (GRCm39) |
S371C |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,741,942 (GRCm39) |
V1322D |
probably damaging |
Het |
Rrp8 |
A |
G |
7: 105,384,109 (GRCm39) |
V131A |
probably benign |
Het |
Rtp1 |
A |
T |
16: 23,248,044 (GRCm39) |
K39M |
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,150 (GRCm39) |
L279Q |
possibly damaging |
Het |
Slc1a6 |
A |
G |
10: 78,636,008 (GRCm39) |
I358V |
probably benign |
Het |
Slc25a15 |
T |
C |
8: 22,885,726 (GRCm39) |
|
probably benign |
Het |
Slc43a1 |
G |
A |
2: 84,684,897 (GRCm39) |
|
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Spock3 |
T |
G |
8: 63,802,018 (GRCm39) |
|
probably null |
Het |
Tbc1d7 |
T |
C |
13: 43,308,162 (GRCm39) |
|
probably null |
Het |
Tmem184c |
C |
T |
8: 78,326,286 (GRCm39) |
W260* |
probably null |
Het |
Trnau1ap |
A |
G |
4: 132,039,252 (GRCm39) |
Y265H |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,871,754 (GRCm39) |
F363S |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,072,085 (GRCm39) |
F817L |
possibly damaging |
Het |
Vmn1r13 |
T |
A |
6: 57,187,717 (GRCm39) |
M292K |
probably benign |
Het |
Xpc |
G |
T |
6: 91,487,463 (GRCm39) |
A89E |
probably damaging |
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 |
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 |
R8478:Cfap43
|
UTSW |
19 |
47,764,515 (GRCm39) |
missense |
probably benign |
0.02 |
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'- TGAGTAGCCACAAGTGTATCCG -3'
(R):5'- TTCTGTGGCCCTTAACCATG -3'
Sequencing Primer
(F):5'- TTAAGGAGGCCCCAGGATGTC -3'
(R):5'- GATTGCCGTCCTAACACATGGATG -3'
|
Posted On |
2016-06-07 |