Incidental Mutation 'R2290:Cfap43'
| ID |
244312 |
| 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 |
040289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R2290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47761574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 840
(M840K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160247]
|
| AlphaFold |
E9Q7R9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160247
AA Change: M840K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: M840K
| 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 |
0.2325 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (73/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,363,177 (GRCm39) |
D62G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,218,950 (GRCm39) |
G1457E |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
| Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
| Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,426,878 (GRCm39) |
K1125N |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
| Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
| Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
| Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
| Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
| Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
| Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
| Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
| Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
| Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
| Scly |
T |
C |
1: 91,226,172 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
| Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
| Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,150,881 (GRCm39) |
D309G |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
| Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
| Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,549 (GRCm39) |
T672S |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
| Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
| Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
possibly 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 |
|
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'- AGTACCATGGGGAGAGTCTTC -3'
(R):5'- GTTCTGACACAGCGATACGTTG -3'
Sequencing Primer
(F):5'- AGAGTCTTCCCCAGCATGGTG -3'
(R):5'- CAGCGATACGTTGTTGTTCTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation