Incidental Mutation 'R7270:Cfap43'
ID |
565269 |
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 |
045390-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7270 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47723706-47825893 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47728224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1511
(H1511L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099353]
[ENSMUST00000160247]
|
AlphaFold |
E9Q7R9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099353
|
SMART Domains |
Protein: ENSMUSP00000096954 Gene: ENSMUSG00000025066
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
61 |
N/A |
INTRINSIC |
Pfam:Mei5
|
104 |
310 |
4.8e-73 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160247
AA Change: H1511L
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125007 Gene: ENSMUSG00000044948 AA Change: H1511L
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: 99.7%
- 20x: 99.0%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
A |
T |
10: 42,301,245 (GRCm39) |
Y193N |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
Aimp1 |
T |
C |
3: 132,382,772 (GRCm39) |
K44E |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,046,318 (GRCm39) |
Y369N |
unknown |
Het |
Art5 |
A |
T |
7: 101,747,080 (GRCm39) |
V233D |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,792,836 (GRCm39) |
N431Y |
possibly damaging |
Het |
Bik |
T |
A |
15: 83,428,364 (GRCm39) |
F131I |
possibly damaging |
Het |
Bmpr1a |
A |
G |
14: 34,163,082 (GRCm39) |
Y103H |
probably damaging |
Het |
Cabp7 |
C |
T |
11: 4,696,676 (GRCm39) |
V18M |
possibly damaging |
Het |
Cacna1a |
C |
A |
8: 85,297,866 (GRCm39) |
T1240N |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,603,739 (GRCm39) |
V1311A |
probably damaging |
Het |
Cbarp |
A |
C |
10: 79,973,151 (GRCm39) |
S16A |
possibly damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Ces2b |
A |
T |
8: 105,564,472 (GRCm39) |
H494L |
possibly damaging |
Het |
Cfap54 |
A |
G |
10: 92,675,320 (GRCm39) |
V2867A |
probably benign |
Het |
Col5a1 |
C |
T |
2: 27,887,597 (GRCm39) |
P956L |
unknown |
Het |
Dcakd |
T |
G |
11: 102,891,032 (GRCm39) |
Q19P |
possibly damaging |
Het |
Ddx47 |
T |
A |
6: 135,000,301 (GRCm39) |
D432E |
probably benign |
Het |
Dhrs7b |
T |
C |
11: 60,735,055 (GRCm39) |
F29L |
probably benign |
Het |
Dis3l2 |
A |
T |
1: 86,918,025 (GRCm39) |
D558V |
possibly damaging |
Het |
Dtx3l |
T |
A |
16: 35,754,027 (GRCm39) |
D193V |
probably damaging |
Het |
Eif1ad12 |
T |
C |
12: 87,541,663 (GRCm39) |
L58P |
probably damaging |
Het |
Epha4 |
G |
A |
1: 77,376,422 (GRCm39) |
R486C |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,842,033 (GRCm39) |
T1404A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,490,475 (GRCm39) |
T3796A |
probably damaging |
Het |
Ffar2 |
A |
T |
7: 30,518,929 (GRCm39) |
W204R |
probably benign |
Het |
Ftmt |
A |
G |
18: 52,465,091 (GRCm39) |
I136V |
probably benign |
Het |
Gm10300 |
T |
C |
4: 131,802,167 (GRCm39) |
W54R |
unknown |
Het |
Gm10518 |
C |
T |
1: 179,630,949 (GRCm39) |
P3L |
unknown |
Het |
Grm2 |
G |
A |
9: 106,528,257 (GRCm39) |
T209M |
probably damaging |
Het |
Gtdc1 |
C |
T |
2: 44,525,322 (GRCm39) |
M176I |
probably benign |
Het |
Insrr |
T |
C |
3: 87,710,440 (GRCm39) |
L382P |
probably damaging |
Het |
Jade2 |
A |
G |
11: 51,708,011 (GRCm39) |
V734A |
possibly damaging |
Het |
Kcnh4 |
C |
T |
11: 100,638,472 (GRCm39) |
R586H |
probably benign |
Het |
Kdm1a |
A |
T |
4: 136,279,838 (GRCm39) |
D721E |
probably damaging |
Het |
Knl1 |
G |
A |
2: 118,933,003 (GRCm39) |
C2054Y |
possibly damaging |
Het |
Lrrk2 |
C |
T |
15: 91,584,644 (GRCm39) |
P354S |
probably benign |
Het |
Luzp2 |
A |
G |
7: 54,724,774 (GRCm39) |
I112V |
probably damaging |
Het |
Mgl2 |
T |
C |
11: 70,026,506 (GRCm39) |
S105P |
probably damaging |
Het |
Mocs1 |
T |
A |
17: 49,756,143 (GRCm39) |
M200K |
possibly damaging |
Het |
Oat |
T |
A |
7: 132,168,927 (GRCm39) |
I98L |
probably benign |
Het |
Obscn |
T |
C |
11: 58,920,312 (GRCm39) |
Y8C |
|
Het |
Or5b108 |
G |
A |
19: 13,168,768 (GRCm39) |
V246I |
possibly damaging |
Het |
Or6c1b |
T |
G |
10: 129,273,319 (GRCm39) |
F213V |
probably benign |
Het |
Pde1b |
T |
A |
15: 103,430,082 (GRCm39) |
M137K |
possibly damaging |
Het |
Phf21a |
T |
C |
2: 92,157,484 (GRCm39) |
I204T |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,593,838 (GRCm39) |
E321G |
possibly damaging |
Het |
Plpp7 |
C |
T |
2: 31,985,662 (GRCm39) |
|
probably benign |
Het |
Prdm1 |
A |
G |
10: 44,317,566 (GRCm39) |
I419T |
probably benign |
Het |
Sec16b |
A |
T |
1: 157,392,032 (GRCm39) |
R855W |
probably damaging |
Het |
Sec16b |
G |
T |
1: 157,392,033 (GRCm39) |
R855M |
probably damaging |
Het |
Sec31b |
T |
C |
19: 44,511,482 (GRCm39) |
T640A |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,471 (GRCm39) |
T425A |
possibly damaging |
Het |
Sirpd |
A |
T |
3: 15,385,704 (GRCm39) |
I66N |
probably benign |
Het |
Skil |
T |
C |
3: 31,151,324 (GRCm39) |
|
probably benign |
Het |
Slc1a5 |
G |
A |
7: 16,519,623 (GRCm39) |
V200M |
probably damaging |
Het |
Slc25a12 |
T |
C |
2: 71,154,369 (GRCm39) |
H139R |
probably benign |
Het |
Slc25a32 |
A |
T |
15: 38,961,630 (GRCm39) |
V187D |
probably damaging |
Het |
Slc35a3 |
G |
A |
3: 116,505,455 (GRCm39) |
|
probably benign |
Het |
Smap2 |
C |
A |
4: 120,829,264 (GRCm39) |
M328I |
probably benign |
Het |
Spef2 |
C |
T |
15: 9,600,066 (GRCm39) |
|
probably null |
Het |
Srarp |
A |
G |
4: 141,160,389 (GRCm39) |
V148A |
possibly damaging |
Het |
Stard9 |
T |
A |
2: 120,464,755 (GRCm39) |
Y73* |
probably null |
Het |
Tars1 |
A |
G |
15: 11,392,105 (GRCm39) |
C236R |
probably benign |
Het |
Tchh |
G |
C |
3: 93,351,837 (GRCm39) |
D426H |
unknown |
Het |
Tnks2 |
T |
C |
19: 36,836,545 (GRCm39) |
F17S |
|
Het |
Ube2g1 |
T |
C |
11: 72,553,939 (GRCm39) |
I30T |
possibly damaging |
Het |
Ube2o |
C |
T |
11: 116,434,761 (GRCm39) |
D567N |
possibly damaging |
Het |
Unc5b |
A |
T |
10: 60,608,002 (GRCm39) |
Y710* |
probably null |
Het |
Vmn1r215 |
T |
C |
13: 23,260,089 (GRCm39) |
V43A |
possibly damaging |
Het |
Xkr8 |
A |
G |
4: 132,455,648 (GRCm39) |
F242L |
probably benign |
Het |
Zfp526 |
T |
A |
7: 24,925,345 (GRCm39) |
C535S |
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 |
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'- AGGCAGGCAGTAAGTCGTTG -3'
(R):5'- ATAGATGCTGGTTTGCCTAGCC -3'
Sequencing Primer
(F):5'- GTCGTTGGGAAGAATGAACAC -3'
(R):5'- CCACATGCTTTATCCAGGAGG -3'
|
Posted On |
2019-06-26 |