Incidental Mutation 'IGL01404:Cfap43'
| ID |
278404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.111)
|
| Stock # |
IGL01404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47784105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 476
(D476G)
|
| 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 benign
Transcript: ENSMUST00000160247
AA Change: D476G
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: D476G
| 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
|
| Coding Region Coverage |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,211,152 (GRCm39) |
|
probably null |
Het |
| 4921524L21Rik |
T |
C |
18: 6,638,653 (GRCm39) |
S351P |
possibly damaging |
Het |
| Ablim3 |
A |
G |
18: 62,004,754 (GRCm39) |
Y12H |
probably damaging |
Het |
| Adam2 |
C |
T |
14: 66,314,659 (GRCm39) |
|
probably null |
Het |
| Adgre4 |
A |
T |
17: 56,104,639 (GRCm39) |
N235I |
possibly damaging |
Het |
| Aldh3b1 |
A |
C |
19: 3,971,205 (GRCm39) |
V153G |
probably benign |
Het |
| B430306N03Rik |
A |
G |
17: 48,628,101 (GRCm39) |
Y177C |
probably damaging |
Het |
| Cast |
A |
T |
13: 74,886,406 (GRCm39) |
Y249* |
probably null |
Het |
| Cpa4 |
T |
C |
6: 30,581,701 (GRCm39) |
I216T |
possibly damaging |
Het |
| Cpeb3 |
T |
C |
19: 37,065,948 (GRCm39) |
D407G |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,829,590 (GRCm39) |
D413G |
probably damaging |
Het |
| Cyb5a |
A |
G |
18: 84,895,985 (GRCm39) |
S84G |
probably benign |
Het |
| Dpy19l4 |
C |
A |
4: 11,273,006 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
T |
13: 103,975,972 (GRCm39) |
S641T |
probably damaging |
Het |
| Espn |
T |
A |
4: 152,222,901 (GRCm39) |
T326S |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,086,514 (GRCm39) |
M514V |
probably benign |
Het |
| Fancc |
G |
A |
13: 63,509,452 (GRCm39) |
L134F |
probably damaging |
Het |
| Fis1 |
C |
T |
5: 136,994,828 (GRCm39) |
A90V |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
| Gjc3 |
A |
G |
5: 137,956,120 (GRCm39) |
F55S |
probably damaging |
Het |
| Gm10762 |
C |
T |
2: 128,809,005 (GRCm39) |
|
probably benign |
Het |
| Got1 |
A |
G |
19: 43,493,048 (GRCm39) |
I291T |
possibly damaging |
Het |
| Gpr179 |
C |
A |
11: 97,229,012 (GRCm39) |
G1048* |
probably null |
Het |
| Ino80 |
T |
A |
2: 119,287,199 (GRCm39) |
D56V |
possibly damaging |
Het |
| Kcp |
C |
A |
6: 29,496,638 (GRCm39) |
C624F |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,102,610 (GRCm39) |
Q857L |
probably damaging |
Het |
| Lins1 |
G |
A |
7: 66,363,676 (GRCm39) |
V524I |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,430,901 (GRCm39) |
Y383N |
probably damaging |
Het |
| Mgam |
A |
C |
6: 40,621,879 (GRCm39) |
K84Q |
probably benign |
Het |
| Mib2 |
T |
A |
4: 155,739,393 (GRCm39) |
E862V |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,112,977 (GRCm39) |
R1827L |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,642,866 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,245,048 (GRCm39) |
Y382C |
probably benign |
Het |
| Nktr |
G |
A |
9: 121,570,218 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
A |
G |
17: 74,752,706 (GRCm39) |
I559T |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,364 (GRCm39) |
M224L |
probably benign |
Het |
| Or4d5 |
A |
G |
9: 40,012,558 (GRCm39) |
I76T |
probably benign |
Het |
| Or52n4 |
A |
T |
7: 104,293,687 (GRCm39) |
Y295* |
probably null |
Het |
| Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
| Pex7 |
G |
T |
10: 19,770,557 (GRCm39) |
|
probably benign |
Het |
| Ptprb |
A |
T |
10: 116,175,341 (GRCm39) |
D1112V |
probably benign |
Het |
| Rubcn |
G |
A |
16: 32,647,666 (GRCm39) |
T636M |
probably damaging |
Het |
| Scn5a |
A |
C |
9: 119,315,536 (GRCm39) |
L1724R |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,066,710 (GRCm39) |
D34G |
possibly damaging |
Het |
| Serpina3k |
A |
G |
12: 104,306,882 (GRCm39) |
D38G |
probably benign |
Het |
| Sh3bgr |
A |
C |
16: 96,007,690 (GRCm39) |
K18N |
probably damaging |
Het |
| Sh3bp5l |
A |
T |
11: 58,236,886 (GRCm39) |
H281L |
probably benign |
Het |
| Slc28a2 |
T |
G |
2: 122,282,538 (GRCm39) |
I287M |
probably damaging |
Het |
| Slc2a1 |
T |
A |
4: 118,989,435 (GRCm39) |
M45K |
possibly damaging |
Het |
| Syt11 |
A |
G |
3: 88,669,523 (GRCm39) |
I123T |
probably benign |
Het |
| Tfg |
C |
A |
16: 56,514,856 (GRCm39) |
|
probably benign |
Het |
| Tmem177 |
T |
C |
1: 119,837,791 (GRCm39) |
D296G |
probably damaging |
Het |
| Trabd2b |
A |
G |
4: 114,457,153 (GRCm39) |
I357V |
probably benign |
Het |
| Trp63 |
C |
A |
16: 25,639,135 (GRCm39) |
|
probably benign |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,617 (GRCm39) |
L10P |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,696 (GRCm39) |
I823M |
probably damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,484,467 (GRCm39) |
N446S |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,820,486 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
C |
T |
1: 37,193,117 (GRCm39) |
T11I |
probably benign |
Het |
| Vwf |
A |
C |
6: 125,654,933 (GRCm39) |
Q2543P |
probably damaging |
Het |
| Yap1 |
G |
A |
9: 7,934,742 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
A |
C |
6: 47,874,770 (GRCm39) |
D325A |
probably damaging |
Het |
| Zfyve9 |
T |
G |
4: 108,539,348 (GRCm39) |
Y975S |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation