Incidental Mutation 'R1541:Cfap43'
| ID |
171771 |
| 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 |
039580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R1541 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 47752291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160247]
|
| AlphaFold |
E9Q7R9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159999
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160247
|
| SMART Domains |
Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
| 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: ENSMUST00000161832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162657
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| 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 |
|---|
| Acod1 |
A |
G |
14: 103,286,769 (GRCm39) |
D24G |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,177 (GRCm39) |
R454H |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,215,223 (GRCm39) |
N181I |
probably damaging |
Het |
| Atp6v0d2 |
A |
C |
4: 19,910,645 (GRCm39) |
F82V |
probably damaging |
Het |
| Calhm4 |
T |
C |
10: 33,917,659 (GRCm39) |
H264R |
probably benign |
Het |
| Casp3 |
A |
G |
8: 47,087,369 (GRCm39) |
I105M |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,749 (GRCm39) |
D159V |
probably damaging |
Het |
| Cd163 |
A |
C |
6: 124,304,920 (GRCm39) |
D1099A |
probably benign |
Het |
| Cep128 |
A |
T |
12: 91,315,555 (GRCm39) |
S110R |
probably damaging |
Het |
| Cfap58 |
T |
C |
19: 47,971,969 (GRCm39) |
I633T |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,814 (GRCm39) |
H86R |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,565 (GRCm39) |
K48R |
probably benign |
Het |
| Crip2 |
T |
C |
12: 113,108,586 (GRCm39) |
V64A |
possibly damaging |
Het |
| Cstdc5 |
T |
A |
16: 36,187,863 (GRCm39) |
M1L |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,456,760 (GRCm39) |
S698T |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,214,771 (GRCm39) |
I933V |
probably benign |
Het |
| Dnah8 |
C |
A |
17: 30,966,221 (GRCm39) |
N2470K |
probably damaging |
Het |
| Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
| Dtx1 |
T |
A |
5: 120,848,411 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,116,890 (GRCm39) |
S782L |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,675,971 (GRCm39) |
|
probably null |
Het |
| Erich1 |
A |
G |
8: 14,080,688 (GRCm39) |
I277T |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,275 (GRCm39) |
M589L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,836,448 (GRCm39) |
I440T |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,560,874 (GRCm39) |
S1311L |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,785,405 (GRCm39) |
I1552F |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,962,689 (GRCm39) |
T459A |
probably benign |
Het |
| Knop1 |
G |
A |
7: 118,455,009 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
C |
A |
11: 115,743,947 (GRCm39) |
T758K |
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,649,148 (GRCm39) |
D340G |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,270,636 (GRCm39) |
D953G |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,794,562 (GRCm39) |
V1247A |
probably damaging |
Het |
| Ncoa4 |
A |
T |
14: 31,898,845 (GRCm39) |
K555M |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,257,224 (GRCm39) |
L773Q |
probably benign |
Het |
| Ndc1 |
C |
T |
4: 107,228,485 (GRCm39) |
Q70* |
probably null |
Het |
| Nfe2l3 |
C |
T |
6: 51,434,585 (GRCm39) |
L382F |
probably damaging |
Het |
| Nlrp4b |
C |
A |
7: 10,458,979 (GRCm39) |
T399N |
possibly damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,473,234 (GRCm39) |
D250E |
probably damaging |
Het |
| Nudt14 |
A |
T |
12: 112,898,548 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,062,624 (GRCm39) |
R570H |
possibly damaging |
Het |
| Or5p56 |
T |
C |
7: 107,590,048 (GRCm39) |
F159L |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,819,988 (GRCm39) |
D525G |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,904,085 (GRCm39) |
S369P |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,318,916 (GRCm39) |
T2476S |
possibly damaging |
Het |
| Rnmt |
T |
C |
18: 68,440,853 (GRCm39) |
L172P |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,634,623 (GRCm39) |
H101L |
probably benign |
Het |
| Sirpd |
T |
A |
3: 15,385,744 (GRCm39) |
T53S |
possibly damaging |
Het |
| Srm |
A |
G |
4: 148,677,881 (GRCm39) |
D173G |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,844 (GRCm39) |
D380G |
probably benign |
Het |
| Svs5 |
C |
T |
2: 164,078,929 (GRCm39) |
R326Q |
possibly damaging |
Het |
| Tent4b |
T |
C |
8: 88,972,227 (GRCm39) |
V222A |
probably damaging |
Het |
| Tfap2b |
C |
T |
1: 19,304,294 (GRCm39) |
T350M |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,341,070 (GRCm39) |
C304S |
probably damaging |
Het |
| Tsc2 |
G |
T |
17: 24,850,950 (GRCm39) |
T36N |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,649 (GRCm39) |
Y274* |
probably null |
Het |
| Wdr37 |
T |
C |
13: 8,870,574 (GRCm39) |
T373A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,342,634 (GRCm39) |
N1625I |
possibly damaging |
Het |
| Ythdf1 |
A |
C |
2: 180,560,936 (GRCm39) |
S35A |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,928 (GRCm39) |
N298S |
possibly damaging |
Het |
| Zfp541 |
T |
A |
7: 15,812,437 (GRCm39) |
D363E |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,020,658 (GRCm39) |
D277G |
probably benign |
Het |
| Znfx1 |
A |
T |
2: 166,898,110 (GRCm39) |
N271K |
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 |
|
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'- ACCTGAAACTTAGTGCTGCCTGATG -3'
(R):5'- GCTGCTGCCTTAATTCAAACCTGAC -3'
Sequencing Primer
(F):5'- gggataagatgggataagaaggg -3'
(R):5'- GCCTTAATTCAAACCTGACTACAAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation