Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Cfap43'

471916

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

044148-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47723706-47825893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47734013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1451 (V1451E)

Ref Sequence

ENSEMBL: ENSMUSP00000125007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160247]

AlphaFold

E9Q7R9

Predicted Effect

probably benign
Transcript: ENSMUST00000160247
AA Change: V1451E

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: V1451E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,029,037 (GRCm39)	K131E	probably benign	Het
Ank3	T	A	10: 69,823,056 (GRCm39)	L575*	probably null	Het
Aqr	T	C	2: 113,957,442 (GRCm39)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,807,659 (GRCm39)	S407T	probably benign	Het
Bmper	T	A	9: 23,286,889 (GRCm39)	C272S	probably benign	Het
Btbd9	C	T	17: 30,553,192 (GRCm39)		probably null	Het
C5ar1	A	G	7: 15,982,747 (GRCm39)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,411,579 (GRCm39)	H649R	possibly damaging	Het
Cfap46	T	A	7: 139,231,511 (GRCm39)	M901L	probably damaging	Het
Cherp	G	T	8: 73,215,379 (GRCm39)		probably benign	Het
D430041D05Rik	C	T	2: 104,078,630 (GRCm39)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,064,696 (GRCm39)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,351,480 (GRCm39)	F243L	probably damaging	Het
Garem1	T	A	18: 21,262,487 (GRCm39)	I776F	probably benign	Het
Gpr87	T	A	3: 59,086,690 (GRCm39)	R272*	probably null	Het
Gsdmc	A	T	15: 63,651,965 (GRCm39)		probably null	Het
Hydin	T	A	8: 111,220,926 (GRCm39)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,957,369 (GRCm39)	C63*	probably null	Het
Kdm4b	A	T	17: 56,706,732 (GRCm39)	T908S	probably damaging	Het
Lipn	A	G	19: 34,058,700 (GRCm39)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,982,117 (GRCm39)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,676,544 (GRCm39)	H66N	probably damaging	Het
Mog	G	A	17: 37,323,240 (GRCm39)	R233*	probably null	Het
Mrps24	A	T	11: 5,657,481 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,642,768 (GRCm39)	L423P	probably damaging	Het
Or51b6	T	A	7: 103,556,168 (GRCm39)	V174E	probably benign	Het
Pcdha1	T	A	18: 37,064,224 (GRCm39)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,746,656 (GRCm39)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,746,657 (GRCm39)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,239,780 (GRCm39)	V63D	probably damaging	Het
Pnn	C	T	12: 59,114,617 (GRCm39)	R56*	probably null	Het
Primpol	T	A	8: 47,046,615 (GRCm39)	E227V	possibly damaging	Het
Rad54l	A	T	4: 115,967,584 (GRCm39)	W233R	probably damaging	Het
Rims2	A	T	15: 39,300,578 (GRCm39)	D103V	probably damaging	Het
Rttn	T	C	18: 89,091,819 (GRCm39)	S1511P	probably benign	Het
Septin5	T	C	16: 18,442,962 (GRCm39)		probably null	Het
Simc1	T	A	13: 54,673,632 (GRCm39)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,056,691 (GRCm39)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,721,196 (GRCm39)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 72,958,046 (GRCm39)	V242A	probably benign	Het
St14	A	T	9: 31,017,853 (GRCm39)		probably benign	Het
Tnnt2	T	C	1: 135,771,600 (GRCm39)		probably benign	Het
Traf5	G	A	1: 191,731,977 (GRCm39)	T288I	probably benign	Het
Trerf1	C	T	17: 47,625,263 (GRCm39)		noncoding transcript	Het
Vegfc	A	G	8: 54,634,319 (GRCm39)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,011,608 (GRCm39)	I209F	probably damaging	Het
Vps51	A	G	19: 6,118,320 (GRCm39)	L725P	probably damaging	Het
Vps8	T	C	16: 21,288,871 (GRCm39)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,052,310 (GRCm39)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,831,918 (GRCm39)	E164G	probably damaging	Het
Zcchc14	A	T	8: 122,355,362 (GRCm39)		probably benign	Het
Zfp383	A	G	7: 29,615,103 (GRCm39)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,476,378 (GRCm39)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,745,931 (GRCm39)		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
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'- CGAGAGACACTATGAGGCATTTTATAC -3'
(R):5'- CATGACTGTAATTTTGTCCATACGG -3'

Sequencing Primer
(F):5'- TATACAAAAGGCAGTACGTTCAAG -3'
(R):5'- ATTCCAGGCACATAGAGGGTCTTC -3'

Posted On

2017-03-31