Incidental Mutation 'R7995:Cfap43'
| ID |
616062 |
| 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 # |
R7995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47886462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 51
(E51G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095998]
|
| AlphaFold |
E9Q7R9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095998
AA Change: E51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093697
Gene: ENSMUSG00000044948
AA Change: E51G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
27 |
82 |
3e-3 |
SMART |
|
low complexity region
|
115 |
135 |
N/A |
INTRINSIC |
|
Mab-21
|
194 |
528 |
4.37e-84 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,528 (GRCm39) |
T137S |
unknown |
Het |
| Apbb1 |
T |
C |
7: 105,214,852 (GRCm39) |
D462G |
probably benign |
Het |
| Arhgef1 |
T |
G |
7: 24,618,641 (GRCm39) |
L387R |
probably damaging |
Het |
| Ass1 |
A |
G |
2: 31,376,552 (GRCm39) |
I139V |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,571,379 (GRCm39) |
N315S |
probably damaging |
Het |
| Brap |
A |
T |
5: 121,820,909 (GRCm39) |
I429L |
probably benign |
Het |
| Capn2 |
A |
G |
1: 182,306,111 (GRCm39) |
|
probably null |
Het |
| Car10 |
A |
G |
11: 93,487,948 (GRCm39) |
Y215C |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,634,495 (GRCm39) |
T365A |
probably damaging |
Het |
| Cdc42ep1 |
A |
G |
15: 78,731,696 (GRCm39) |
H47R |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,282 (GRCm39) |
S2734N |
probably damaging |
Het |
| Cers5 |
A |
C |
15: 99,638,823 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
A |
6: 18,214,155 (GRCm39) |
D110E |
probably damaging |
Het |
| Cimap2 |
T |
A |
4: 106,473,112 (GRCm39) |
H57L |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,499,277 (GRCm39) |
K1176E |
probably damaging |
Het |
| Dlx6 |
A |
T |
6: 6,867,277 (GRCm39) |
R293S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,411,563 (GRCm39) |
F353Y |
possibly damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,051,562 (GRCm39) |
I1765N |
probably damaging |
Het |
| Ercc6 |
G |
T |
14: 32,284,526 (GRCm39) |
R763L |
probably damaging |
Het |
| Furin |
T |
C |
7: 80,045,195 (GRCm39) |
N243S |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,465,588 (GRCm39) |
E48G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,972,743 (GRCm39) |
T380I |
probably damaging |
Het |
| Klk4 |
T |
A |
7: 43,533,010 (GRCm39) |
I32N |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,425 (GRCm39) |
E185G |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,526,858 (GRCm39) |
W2239R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,980,975 (GRCm39) |
D316E |
probably benign |
Het |
| Mlh1 |
G |
T |
9: 111,064,989 (GRCm39) |
N555K |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,950,839 (GRCm39) |
W579* |
probably null |
Het |
| Mycs |
G |
A |
X: 5,380,858 (GRCm39) |
P74L |
probably damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,207 (GRCm39) |
L248H |
probably damaging |
Het |
| Or6c1 |
T |
C |
10: 129,518,509 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,846,590 (GRCm39) |
I365V |
possibly damaging |
Het |
| Pcdhga11 |
C |
A |
18: 37,890,078 (GRCm39) |
S362* |
probably null |
Het |
| Pdk4 |
C |
T |
6: 5,487,093 (GRCm39) |
V318M |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
| Phldb1 |
A |
T |
9: 44,626,669 (GRCm39) |
L592Q |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,769,423 (GRCm39) |
Y78C |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,507,960 (GRCm39) |
Y94* |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,473,614 (GRCm39) |
V310A |
possibly damaging |
Het |
| Pramel21 |
A |
G |
4: 143,342,570 (GRCm39) |
I226V |
possibly damaging |
Het |
| Prl7d1 |
T |
A |
13: 27,894,054 (GRCm39) |
I171L |
probably benign |
Het |
| Rpusd4 |
A |
G |
9: 35,184,017 (GRCm39) |
Y224C |
probably damaging |
Het |
| Scara5 |
C |
A |
14: 65,997,057 (GRCm39) |
R390S |
possibly damaging |
Het |
| Scin |
C |
T |
12: 40,129,804 (GRCm39) |
V330I |
probably benign |
Het |
| Sdr42e1 |
T |
A |
8: 118,390,007 (GRCm39) |
R211S |
probably benign |
Het |
| Slc36a3 |
C |
A |
11: 55,020,495 (GRCm39) |
A292S |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,848,924 (GRCm39) |
D1068G |
probably benign |
Het |
| Srd5a1 |
T |
A |
13: 69,759,338 (GRCm39) |
D10V |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,469,823 (GRCm39) |
C4507F |
probably damaging |
Het |
| Tmem94 |
G |
A |
11: 115,688,797 (GRCm39) |
E1335K |
probably damaging |
Het |
| Tnfrsf13b |
C |
T |
11: 61,031,742 (GRCm39) |
Q28* |
probably null |
Het |
| Tspan3 |
A |
T |
9: 56,054,438 (GRCm39) |
F88I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,592,519 (GRCm39) |
K20871R |
probably benign |
Het |
| Ube2j2 |
C |
A |
4: 156,041,795 (GRCm39) |
Y263* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,839,977 (GRCm39) |
T1856A |
probably benign |
Het |
| Vrk3 |
T |
C |
7: 44,413,585 (GRCm39) |
L218P |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,657,461 (GRCm39) |
H761N |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,844,887 (GRCm39) |
S686T |
possibly 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 |
|
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 |
|
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'- ATGGTTCTGTCGCAACACC -3'
(R):5'- GCTAGTTCAAGGATCCAGGG -3'
Sequencing Primer
(F):5'- TGTCGCAACACCTCGATG -3'
(R):5'- CATAGGTGTGACCAGCAGTGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation