Incidental Mutation 'R7733:Cfap43'
ID |
596030 |
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 |
045789-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7733 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 47886432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 61
(R61H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093697
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095998]
|
AlphaFold |
E9Q7R9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095998
AA Change: R61H
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000093697 Gene: ENSMUSG00000044948 AA Change: R61H
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 |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
Validation Efficiency |
100% (83/83) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
T |
A |
6: 133,271,240 (GRCm39) |
S95T |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,945,413 (GRCm39) |
F1070L |
probably benign |
Het |
Acsl3 |
G |
C |
1: 78,665,953 (GRCm39) |
|
probably null |
Het |
Adarb2 |
T |
A |
13: 8,802,644 (GRCm39) |
S640T |
possibly damaging |
Het |
Adgre5 |
T |
C |
8: 84,456,025 (GRCm39) |
D257G |
probably benign |
Het |
Adora2b |
A |
T |
11: 62,156,165 (GRCm39) |
I205F |
possibly damaging |
Het |
Asb14 |
A |
G |
14: 26,634,309 (GRCm39) |
M505V |
probably benign |
Het |
Atrnl1 |
T |
C |
19: 57,690,420 (GRCm39) |
V876A |
probably benign |
Het |
AU040320 |
A |
G |
4: 126,729,322 (GRCm39) |
N495D |
possibly damaging |
Het |
Bcam |
A |
T |
7: 19,494,313 (GRCm39) |
V361E |
probably benign |
Het |
Ccdc7a |
T |
A |
8: 129,719,533 (GRCm39) |
E247V |
probably damaging |
Het |
Cd84 |
T |
A |
1: 171,668,226 (GRCm39) |
M1K |
probably null |
Het |
Clec4a1 |
A |
G |
6: 122,909,109 (GRCm39) |
D159G |
possibly damaging |
Het |
Ctcfl |
C |
T |
2: 172,958,985 (GRCm39) |
R247Q |
probably benign |
Het |
Ctdnep1 |
G |
A |
11: 69,880,835 (GRCm39) |
R236Q |
probably damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,450,066 (GRCm39) |
H589L |
probably benign |
Het |
Cyp2u1 |
G |
T |
3: 131,096,676 (GRCm39) |
A34E |
probably benign |
Het |
Cyp4x1 |
A |
G |
4: 114,977,391 (GRCm39) |
S281P |
possibly damaging |
Het |
Dag1 |
T |
C |
9: 108,086,047 (GRCm39) |
T365A |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,572,503 (GRCm39) |
|
probably null |
Het |
Dnajb1 |
T |
G |
8: 84,335,006 (GRCm39) |
S16A |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,181,372 (GRCm39) |
L145Q |
probably benign |
Het |
Dsc2 |
G |
C |
18: 20,181,373 (GRCm39) |
L145V |
probably benign |
Het |
Eefsec |
T |
C |
6: 88,353,202 (GRCm39) |
T156A |
possibly damaging |
Het |
Eif6 |
T |
A |
2: 155,665,152 (GRCm39) |
D169V |
probably benign |
Het |
Ell3 |
C |
A |
2: 121,273,001 (GRCm39) |
G3V |
possibly damaging |
Het |
Eprs1 |
A |
T |
1: 185,129,358 (GRCm39) |
H615L |
probably benign |
Het |
Fbxw10 |
A |
G |
11: 62,764,223 (GRCm39) |
Y630C |
unknown |
Het |
Fcgbpl1 |
A |
T |
7: 27,839,390 (GRCm39) |
D401V |
probably damaging |
Het |
G6pc2 |
C |
T |
2: 69,050,527 (GRCm39) |
Q51* |
probably null |
Het |
Glt8d1 |
C |
T |
14: 30,723,935 (GRCm39) |
|
probably benign |
Het |
Gpr4 |
T |
C |
7: 18,956,635 (GRCm39) |
Y186H |
probably damaging |
Het |
Grhpr |
T |
C |
4: 44,981,494 (GRCm39) |
|
probably benign |
Het |
Gsdma3 |
A |
G |
11: 98,526,041 (GRCm39) |
H264R |
probably damaging |
Het |
Hcfc2 |
A |
G |
10: 82,575,013 (GRCm39) |
Y224C |
probably benign |
Het |
Helz2 |
A |
G |
2: 180,872,148 (GRCm39) |
F2608S |
possibly damaging |
Het |
Herc2 |
C |
T |
7: 55,838,412 (GRCm39) |
T3313M |
probably damaging |
Het |
Hmgcl |
A |
T |
4: 135,687,394 (GRCm39) |
H223L |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,958,256 (GRCm39) |
V139A |
possibly damaging |
Het |
Iqcn |
A |
G |
8: 71,170,100 (GRCm39) |
T1397A |
possibly damaging |
Het |
Kif5a |
T |
A |
10: 127,072,609 (GRCm39) |
T727S |
probably benign |
Het |
Kifc1 |
G |
A |
17: 34,102,543 (GRCm39) |
R357W |
probably damaging |
Het |
Krt81 |
T |
A |
15: 101,361,395 (GRCm39) |
S62C |
probably damaging |
Het |
Lgi2 |
T |
C |
5: 52,695,873 (GRCm39) |
N362S |
probably benign |
Het |
Lig1 |
G |
T |
7: 13,030,157 (GRCm39) |
R378L |
possibly damaging |
Het |
Map3k13 |
C |
T |
16: 21,740,436 (GRCm39) |
R588C |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,909,004 (GRCm39) |
F1008L |
probably damaging |
Het |
Nr4a2 |
A |
G |
2: 57,002,333 (GRCm39) |
V40A |
probably benign |
Het |
Nrde2 |
A |
T |
12: 100,110,399 (GRCm39) |
C206S |
possibly damaging |
Het |
Or4f14d |
C |
T |
2: 111,960,386 (GRCm39) |
V257I |
probably benign |
Het |
Parp1 |
T |
C |
1: 180,427,777 (GRCm39) |
|
probably null |
Het |
Pcdhb12 |
A |
G |
18: 37,570,089 (GRCm39) |
T412A |
probably damaging |
Het |
Plekhh2 |
T |
A |
17: 84,890,952 (GRCm39) |
Y839* |
probably null |
Het |
Pnpla6 |
T |
A |
8: 3,572,660 (GRCm39) |
F316I |
probably benign |
Het |
Prcp |
C |
T |
7: 92,550,506 (GRCm39) |
T101M |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,252,183 (GRCm39) |
R1076L |
probably benign |
Het |
Prpf40b |
T |
C |
15: 99,206,224 (GRCm39) |
|
probably null |
Het |
Psd3 |
T |
G |
8: 68,573,568 (GRCm39) |
K204N |
possibly damaging |
Het |
Ptpro |
C |
A |
6: 137,391,284 (GRCm39) |
C801* |
probably null |
Het |
Ptprt |
A |
G |
2: 161,417,707 (GRCm39) |
V923A |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 23,000,383 (GRCm39) |
D824E |
probably benign |
Het |
Rasgrf1 |
A |
G |
9: 89,863,780 (GRCm39) |
D582G |
probably benign |
Het |
Rfc2 |
T |
C |
5: 134,622,070 (GRCm39) |
L183P |
probably damaging |
Het |
Rnf114 |
T |
C |
2: 167,354,438 (GRCm39) |
V173A |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,338,994 (GRCm39) |
I562F |
probably benign |
Het |
Setmar |
T |
C |
6: 108,053,088 (GRCm39) |
I194T |
probably damaging |
Het |
Sptb |
A |
T |
12: 76,644,695 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Sptlc3 |
G |
T |
2: 139,473,288 (GRCm39) |
M512I |
possibly damaging |
Het |
Svep1 |
C |
A |
4: 58,049,239 (GRCm39) |
A3423S |
probably benign |
Het |
Sycp1 |
T |
C |
3: 102,803,278 (GRCm39) |
T511A |
probably benign |
Het |
Synm |
T |
A |
7: 67,385,693 (GRCm39) |
|
probably null |
Het |
Tada1 |
C |
T |
1: 166,217,511 (GRCm39) |
P216L |
probably damaging |
Het |
Tas2r117 |
T |
A |
6: 132,780,138 (GRCm39) |
M92K |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,667,826 (GRCm39) |
F783L |
possibly damaging |
Het |
Thsd1 |
T |
C |
8: 22,748,737 (GRCm39) |
L536P |
probably damaging |
Het |
Timp2 |
T |
G |
11: 118,208,355 (GRCm39) |
|
probably null |
Het |
Trak1 |
T |
A |
9: 121,196,291 (GRCm39) |
V41D |
possibly damaging |
Het |
Ubqln3 |
T |
A |
7: 103,790,283 (GRCm39) |
L602F |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,661,443 (GRCm39) |
F791L |
probably benign |
Het |
Wbp4 |
A |
G |
14: 79,714,480 (GRCm39) |
|
probably null |
Het |
Zng1 |
T |
C |
19: 24,918,158 (GRCm39) |
D204G |
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 |
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'- ACAGTGCTCGTAGAAGTGGTCC -3'
(R):5'- AACTCTTCCGGGTCTGTCTG -3'
Sequencing Primer
(F):5'- TAGTCCCGACAGCTCGTC -3'
(R):5'- CCGGGTCTGTCTGGTCGTG -3'
|
Posted On |
2019-11-12 |