Incidental Mutation 'R5185:Cfap43'
| ID |
397851 |
| 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 |
042764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5185 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47768833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 737
(I737T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160247]
|
| AlphaFold |
E9Q7R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160247
AA Change: I737T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: I737T
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
95% (70/74) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
T |
C |
11: 94,453,737 (GRCm39) |
Y408C |
probably damaging |
Het |
| Aox4 |
T |
C |
1: 58,293,477 (GRCm39) |
L943S |
probably damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,589,958 (GRCm39) |
|
probably benign |
Het |
| Arsb |
T |
C |
13: 93,930,667 (GRCm39) |
S212P |
probably damaging |
Het |
| Arsi |
A |
G |
18: 61,049,984 (GRCm39) |
N289S |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,165,865 (GRCm39) |
F72I |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,090,063 (GRCm38) |
I336T |
probably benign |
Het |
| Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
| Bcl6 |
A |
T |
16: 23,791,697 (GRCm39) |
M219K |
possibly damaging |
Het |
| Brd3 |
T |
C |
2: 27,352,460 (GRCm39) |
K157E |
probably damaging |
Het |
| Ccdc171 |
T |
G |
4: 83,581,892 (GRCm39) |
S674A |
possibly damaging |
Het |
| Cul9 |
A |
T |
17: 46,836,758 (GRCm39) |
V1089D |
possibly damaging |
Het |
| Dffa |
C |
A |
4: 149,201,887 (GRCm39) |
A155E |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Efcab12 |
T |
A |
6: 115,800,451 (GRCm39) |
M191L |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,421,707 (GRCm39) |
L1018P |
probably damaging |
Het |
| Fcho1 |
A |
G |
8: 72,167,600 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
T |
A |
3: 27,511,219 (GRCm39) |
T764S |
probably benign |
Het |
| Gm29125 |
T |
C |
1: 80,361,948 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
| Gm9949 |
T |
G |
18: 62,313,636 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,695,503 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,230,216 (GRCm39) |
Y323H |
probably damaging |
Het |
| Grip1 |
T |
G |
10: 119,767,164 (GRCm39) |
D96E |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,532,492 (GRCm39) |
I3132V |
probably benign |
Het |
| Hsd17b1 |
T |
C |
11: 100,971,024 (GRCm39) |
W327R |
possibly damaging |
Het |
| Htra2 |
G |
A |
6: 83,031,223 (GRCm39) |
P62L |
probably benign |
Het |
| Kdr |
A |
T |
5: 76,113,077 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
A |
1: 136,455,207 (GRCm39) |
C1626* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,731,543 (GRCm39) |
|
probably benign |
Het |
| Krt15 |
T |
C |
11: 100,024,259 (GRCm39) |
T321A |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,358,356 (GRCm39) |
H109L |
probably benign |
Het |
| Lilra6 |
T |
A |
7: 3,917,635 (GRCm39) |
H120L |
probably benign |
Het |
| Lpcat2 |
G |
A |
8: 93,596,365 (GRCm39) |
S134N |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,164,742 (GRCm39) |
D465G |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,325,859 (GRCm39) |
D16E |
probably damaging |
Het |
| Nek5 |
C |
T |
8: 22,573,397 (GRCm39) |
A520T |
possibly damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,412,627 (GRCm39) |
F132L |
possibly damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,455,910 (GRCm39) |
T902N |
probably benign |
Het |
| Or10d1b |
A |
T |
9: 39,613,172 (GRCm39) |
W298R |
probably benign |
Het |
| Or4c123 |
A |
T |
2: 89,126,731 (GRCm39) |
H294Q |
probably benign |
Het |
| Or7e165 |
T |
C |
9: 19,694,672 (GRCm39) |
M81T |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,720,946 (GRCm39) |
D191G |
probably benign |
Het |
| Pcdhb16 |
T |
C |
18: 37,613,142 (GRCm39) |
S701P |
possibly damaging |
Het |
| Phf7 |
A |
G |
14: 30,969,994 (GRCm39) |
|
probably null |
Het |
| Plpp4 |
G |
A |
7: 128,918,028 (GRCm39) |
V68M |
probably damaging |
Het |
| Pnma2 |
A |
T |
14: 67,153,578 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pnma8b |
A |
T |
7: 16,679,901 (GRCm39) |
D295V |
probably damaging |
Het |
| Rad21l |
T |
C |
2: 151,499,382 (GRCm39) |
D270G |
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
A |
T |
17: 32,615,764 (GRCm39) |
L334Q |
probably damaging |
Het |
| Rfx4 |
G |
T |
10: 84,699,114 (GRCm39) |
R240L |
probably damaging |
Het |
| Rnf19b |
T |
A |
4: 128,977,713 (GRCm39) |
C642* |
probably null |
Het |
| Slc28a2 |
G |
A |
2: 122,288,675 (GRCm39) |
E594K |
probably benign |
Het |
| Spata31 |
G |
T |
13: 65,065,340 (GRCm39) |
W15L |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 44,148,711 (GRCm39) |
S925P |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,084,534 (GRCm39) |
G1865S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,645,323 (GRCm39) |
L791P |
probably damaging |
Het |
| Thbs4 |
A |
C |
13: 92,911,675 (GRCm39) |
V247G |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,809,191 (GRCm39) |
F705Y |
probably damaging |
Het |
| Try10 |
A |
T |
6: 41,333,483 (GRCm39) |
H76L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,769,565 (GRCm39) |
V2695I |
probably damaging |
Het |
| Tut1 |
C |
A |
19: 8,932,814 (GRCm39) |
T49N |
probably benign |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,799,470 (GRCm39) |
D70G |
probably null |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
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 |
|
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'- AATCACTGGACTTGTGGGTAAG -3'
(R):5'- TGGAGAACTTCGCCATGATTC -3'
Sequencing Primer
(F):5'- CATATGCGCATAAAATCTATGAAGGG -3'
(R):5'- AGAACTTCGCCATGATTCTTTGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation