Incidental Mutation 'R8676:Cfap43'
| ID |
661420 |
| 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 |
068531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47736456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 1345
(L1345H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160247]
|
| AlphaFold |
E9Q7R9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160247
AA Change: L1345H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: L1345H
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (54/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
A |
4: 144,396,683 (GRCm39) |
R350C |
possibly damaging |
Het |
| Acsm3 |
T |
A |
7: 119,374,392 (GRCm39) |
S281R |
probably damaging |
Het |
| Adipor2 |
G |
T |
6: 119,340,447 (GRCm39) |
|
probably benign |
Het |
| Alk |
T |
C |
17: 72,204,936 (GRCm39) |
S1079G |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,302,009 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
C |
A |
11: 54,892,108 (GRCm39) |
E283* |
probably null |
Het |
| Bnc2 |
T |
C |
4: 84,194,550 (GRCm39) |
H858R |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,727,043 (GRCm39) |
S496G |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,410,860 (GRCm39) |
S449P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,246,689 (GRCm39) |
D916E |
probably damaging |
Het |
| Cyld |
A |
T |
8: 89,456,138 (GRCm39) |
H396L |
probably benign |
Het |
| Cyp20a1 |
A |
G |
1: 60,418,579 (GRCm39) |
T340A |
possibly damaging |
Het |
| Czib |
A |
G |
4: 107,752,796 (GRCm39) |
N152D |
unknown |
Het |
| Dera |
A |
T |
6: 137,807,202 (GRCm39) |
I217F |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,154,539 (GRCm39) |
L247P |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,759,447 (GRCm39) |
T152M |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,965,858 (GRCm39) |
K214E |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,319,674 (GRCm39) |
T169M |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,845,023 (GRCm39) |
D407G |
unknown |
Het |
| Gli3 |
T |
A |
13: 15,889,619 (GRCm39) |
C578S |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,419,237 (GRCm39) |
N84S |
probably benign |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,838,361 (GRCm39) |
T3296K |
probably damaging |
Het |
| Hnf4g |
A |
T |
3: 3,708,133 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
C |
A |
6: 24,755,826 (GRCm39) |
Q15K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,943,908 (GRCm39) |
E57G |
probably damaging |
Het |
| Kcnc3 |
C |
A |
7: 44,241,020 (GRCm39) |
D237E |
probably benign |
Het |
| Map3k8 |
A |
G |
18: 4,343,137 (GRCm39) |
V130A |
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,440,430 (GRCm39) |
|
probably null |
Het |
| Mtres1 |
A |
G |
10: 43,408,933 (GRCm39) |
L70S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,233,311 (GRCm39) |
L610Q |
probably damaging |
Het |
| Or13p5 |
C |
A |
4: 118,592,235 (GRCm39) |
P170T |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,246 (GRCm39) |
M150K |
probably benign |
Het |
| Or8b52 |
T |
C |
9: 38,577,064 (GRCm39) |
I25M |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,129 (GRCm39) |
T170S |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,516,251 (GRCm39) |
H626Q |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 31,742,146 (GRCm39) |
L26Q |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,039 (GRCm39) |
N405S |
possibly damaging |
Het |
| Proz |
T |
G |
8: 13,123,630 (GRCm39) |
S300R |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,527,990 (GRCm39) |
I251T |
probably benign |
Het |
| Rcbtb1 |
T |
C |
14: 59,467,401 (GRCm39) |
I413T |
possibly damaging |
Het |
| Rnf144b |
T |
A |
13: 47,382,452 (GRCm39) |
Y103N |
probably damaging |
Het |
| Rspry1 |
G |
C |
8: 95,358,747 (GRCm39) |
G194R |
probably benign |
Het |
| Scn2b |
A |
G |
9: 45,036,917 (GRCm39) |
I142V |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,372,607 (GRCm39) |
L588H |
probably damaging |
Het |
| Stk32b |
T |
A |
5: 37,614,503 (GRCm39) |
H335L |
probably benign |
Het |
| Taar4 |
A |
C |
10: 23,836,801 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
T |
4: 94,738,074 (GRCm39) |
H708L |
probably benign |
Het |
| Tmem89 |
C |
T |
9: 108,744,095 (GRCm39) |
L132F |
unknown |
Het |
| Ugt2b38 |
T |
C |
5: 87,559,681 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn1r16 |
C |
T |
6: 57,299,814 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,422 (GRCm39) |
K212R |
probably damaging |
Het |
| Vmn2r11 |
A |
C |
5: 109,201,626 (GRCm39) |
F293V |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,798,240 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
C |
A |
8: 88,509,338 (GRCm39) |
M335I |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,079 (GRCm39) |
Y543C |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,264 (GRCm39) |
S116R |
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 |
|
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 |
|
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'- CTGACAGGTGTGCTATTTCCT -3'
(R):5'- GGCTTATGCTAATGGTCTGTTACT -3'
Sequencing Primer
(F):5'- ACAGGTGTGCTATTTCCTACTAG -3'
(R):5'- AGTTGGTTGGTTGGTTGGTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation