Incidental Mutation 'R8303:Cfap43'
| ID |
639361 |
| 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 |
067715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 47754274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1017
(R1017*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160247]
|
| AlphaFold |
E9Q7R9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000160247
AA Change: R1017*
|
| SMART Domains |
Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: R1017*
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,966 (GRCm39) |
D149E |
probably benign |
Het |
| Aars2 |
T |
C |
17: 45,818,523 (GRCm39) |
C103R |
probably damaging |
Het |
| Aass |
T |
C |
6: 23,092,367 (GRCm39) |
D591G |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,172,205 (GRCm39) |
T1662A |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,009,327 (GRCm39) |
I520N |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,116,095 (GRCm39) |
I279T |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,294,808 (GRCm39) |
K30R |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,657,473 (GRCm39) |
R1828W |
probably benign |
Het |
| Bid |
T |
C |
6: 120,877,200 (GRCm39) |
Y47C |
probably benign |
Het |
| Card6 |
T |
C |
15: 5,134,847 (GRCm39) |
T119A |
probably benign |
Het |
| Cbr1 |
T |
C |
16: 93,406,905 (GRCm39) |
I207T |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,759,575 (GRCm39) |
L443P |
probably damaging |
Het |
| Cfap251 |
T |
A |
5: 123,460,650 (GRCm39) |
V1204E |
probably damaging |
Het |
| Cfap52 |
T |
A |
11: 67,830,621 (GRCm39) |
S280C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,069,022 (GRCm39) |
F81L |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,186,130 (GRCm39) |
D430G |
probably damaging |
Het |
| Cyp4f37 |
G |
A |
17: 32,853,152 (GRCm39) |
|
probably null |
Het |
| Dclre1a |
A |
G |
19: 56,531,121 (GRCm39) |
S742P |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,759,855 (GRCm39) |
F414S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,381,319 (GRCm39) |
N2688S |
probably benign |
Het |
| Elovl4 |
A |
T |
9: 83,670,320 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
C |
13: 103,966,694 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,818,724 (GRCm39) |
D4819G |
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,602,212 (GRCm39) |
P645L |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,171 (GRCm39) |
E492G |
possibly damaging |
Het |
| Gpc5 |
T |
A |
14: 115,665,667 (GRCm39) |
I497K |
probably benign |
Het |
| Hlx |
A |
G |
1: 184,459,905 (GRCm39) |
L411P |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,754,526 (GRCm39) |
I520N |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,410,412 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
C |
11: 94,953,466 (GRCm39) |
D292G |
probably benign |
Het |
| Kif21a |
T |
C |
15: 90,855,399 (GRCm39) |
N655S |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,662 (GRCm39) |
H373R |
probably benign |
Het |
| Ngdn |
A |
T |
14: 55,260,602 (GRCm39) |
H270L |
probably benign |
Het |
| Nol4 |
G |
A |
18: 23,173,231 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,702 (GRCm39) |
E114G |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,239,264 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,467 (GRCm39) |
I45V |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or8d1 |
A |
C |
9: 38,766,837 (GRCm39) |
T160P |
probably damaging |
Het |
| Or8g30 |
A |
C |
9: 39,230,689 (GRCm39) |
S74A |
probably damaging |
Het |
| Pask |
C |
A |
1: 93,248,286 (GRCm39) |
R1005L |
probably benign |
Het |
| Pcm1 |
A |
G |
8: 41,736,758 (GRCm39) |
T875A |
probably damaging |
Het |
| Pdrg1 |
A |
T |
2: 152,851,587 (GRCm39) |
I130N |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,466 (GRCm39) |
M448K |
unknown |
Het |
| R3hdml |
T |
G |
2: 163,341,832 (GRCm39) |
V204G |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,118,235 (GRCm39) |
V32M |
possibly damaging |
Het |
| Scaf8 |
T |
C |
17: 3,198,827 (GRCm39) |
V44A |
unknown |
Het |
| Smad3 |
G |
T |
9: 63,574,760 (GRCm39) |
P177T |
probably benign |
Het |
| Smpd4 |
T |
A |
16: 17,457,195 (GRCm39) |
F384L |
probably damaging |
Het |
| Sycp2l |
G |
C |
13: 41,283,275 (GRCm39) |
L170F |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,585 (GRCm39) |
S155G |
probably benign |
Het |
| Tmem143 |
T |
A |
7: 45,565,994 (GRCm39) |
M439K |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,555,494 (GRCm39) |
T317S |
probably benign |
Het |
| Umps |
A |
G |
16: 33,784,240 (GRCm39) |
V71A |
possibly damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,389 (GRCm39) |
G228D |
possibly damaging |
Het |
| Usp17ld |
C |
T |
7: 102,900,023 (GRCm39) |
C303Y |
probably damaging |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,391 (GRCm39) |
E842* |
probably null |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,433 (GRCm39) |
F619S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,594,270 (GRCm39) |
T3154A |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,640,063 (GRCm39) |
T1311I |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,447,405 (GRCm39) |
Y353* |
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,055,765 (GRCm39) |
L146Q |
probably damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,612 (GRCm39) |
H129L |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,808,015 (GRCm39) |
F2709L |
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 |
|
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 |
|
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'- TGACTTTTGCACACTAGCTCTG -3'
(R):5'- GGCGACAACCACTATAGCTAAG -3'
Sequencing Primer
(F):5'- GTACTTATTCCGCAGAACAGACTGG -3'
(R):5'- TATAGCTAAGAAACACCACGAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation