Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02308:Cfap43'

287690

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap43

Ensembl Gene

ENSMUSG00000044948

Gene Name

cilia and flagella associated protein 43

Synonyms

4930463G05Rik, D19Ertd652e, 4632415N18Rik, 4930428C11Rik, Wdr96

Accession Numbers

Genbank: NM_027559

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

IGL02308

Quality Score

Status

Chromosome

Chromosomal Location

47737561-47919299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47748024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1343 (T1343A)

Ref Sequence

ENSEMBL: ENSMUSP00000125007 (fasta)

Gene Model

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

AlphaFold

E9Q7R9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159999

Predicted Effect

probably benign
Transcript: ENSMUST00000160247
AA Change: T1343A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: T1343A

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

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,202,482	S8F	probably damaging	Het
Alpk1	T	A	3: 127,729,282	Q37L	probably damaging	Het
Cmbl	C	A	15: 31,585,408	P146Q	possibly damaging	Het
Cog2	A	T	8: 124,533,212		probably null	Het
Dgkh	C	A	14: 78,587,576	V880L	probably benign	Het
Dopey1	T	C	9: 86,520,088	S1114P	probably damaging	Het
Eif5b	T	A	1: 38,041,747	V723D	probably damaging	Het
Gdf11	A	G	10: 128,885,384	Y314H	probably damaging	Het
Gm10110	T	C	14: 89,897,595		noncoding transcript	Het
Gm960	T	C	19: 4,663,555	K132E	probably damaging	Het
Gria1	G	A	11: 57,236,924	V320I	probably benign	Het
H2-Q10	T	A	17: 35,473,566	*326R	probably null	Het
Irx6	T	A	8: 92,677,031	L128Q	probably damaging	Het
Kif21b	T	A	1: 136,159,757	L937Q	probably damaging	Het
Lama5	A	G	2: 180,190,327		probably benign	Het
Mios	A	G	6: 8,231,269	I718V	probably benign	Het
Mroh8	A	G	2: 157,254,973	V318A	probably damaging	Het
Nags	A	G	11: 102,149,071	*528W	probably null	Het
Nom1	T	A	5: 29,437,710	V403D	probably damaging	Het
Npffr2	C	A	5: 89,583,451	N413K	probably benign	Het
Olfr394	A	T	11: 73,888,295	Y26N	probably benign	Het
Olfr671	T	A	7: 104,975,458	I176F	possibly damaging	Het
Olr1	C	T	6: 129,499,897	R135K	possibly damaging	Het
Pkhd1	A	G	1: 20,070,376		probably null	Het
Ptpro	A	G	6: 137,454,700	M1158V	probably benign	Het
Sh3d19	A	G	3: 86,093,710	K238E	probably damaging	Het
Smarcc2	G	T	10: 128,482,772	R641L	probably damaging	Het
Th	T	C	7: 142,898,057	E75G	possibly damaging	Het
Tlr1	A	T	5: 64,925,947	L429*	probably null	Het
Ttn	G	A	2: 76,894,361	R2107*	probably null	Het
Ubr2	A	T	17: 46,934,193	C1636S	probably damaging	Het
Vmn2r100	T	A	17: 19,521,335	I103K	possibly damaging	Het
Vmn2r88	A	G	14: 51,417,980	M558V	possibly damaging	Het
Zzef1	G	A	11: 72,886,747	M1801I	probably benign	Het

Other mutations in Cfap43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Cfap43	APN	19	47830475	missense	probably benign	0.08
IGL00325:Cfap43	APN	19	47823188	splice site	probably benign
IGL00918:Cfap43	APN	19	47896661	missense	probably damaging	1.00
IGL01402:Cfap43	APN	19	47795666	missense	probably benign	0.25
IGL01404:Cfap43	APN	19	47795666	missense	probably benign	0.25
IGL01656:Cfap43	APN	19	47751900	missense	possibly damaging	0.95
IGL01738:Cfap43	APN	19	47797185	missense	probably damaging	0.97
IGL02168:Cfap43	APN	19	47751923	splice site	probably benign
IGL02225:Cfap43	APN	19	47812177	missense	probably benign	0.00
IGL02354:Cfap43	APN	19	47897413	nonsense	probably null
IGL02361:Cfap43	APN	19	47897413	nonsense	probably null
IGL03283:Cfap43	APN	19	47791412	splice site	probably benign
3-1:Cfap43	UTSW	19	47751855	missense	probably benign	0.02
IGL03046:Cfap43	UTSW	19	47815863	missense	probably damaging	1.00
PIT4495001:Cfap43	UTSW	19	47897302	missense	probably damaging	1.00
R0270:Cfap43	UTSW	19	47797203	splice site	probably benign
R0421:Cfap43	UTSW	19	47835575	missense	probably benign	0.00
R0433:Cfap43	UTSW	19	47825771	missense	probably benign	0.44
R0576:Cfap43	UTSW	19	47797140	missense	probably benign	0.00
R0646:Cfap43	UTSW	19	47763676	missense	probably benign	0.25
R0740:Cfap43	UTSW	19	47835804	missense	possibly damaging	0.95
R0836:Cfap43	UTSW	19	47815846	missense	probably benign	0.02
R0899:Cfap43	UTSW	19	47747994	missense	possibly damaging	0.93
R1171:Cfap43	UTSW	19	47835711	missense	probably benign	0.03
R1271:Cfap43	UTSW	19	47739744	missense	probably benign	0.22
R1271:Cfap43	UTSW	19	47747948	missense	probably damaging	0.98
R1371:Cfap43	UTSW	19	47835606	missense	possibly damaging	0.95
R1469:Cfap43	UTSW	19	47896875	missense	probably damaging	1.00
R1541:Cfap43	UTSW	19	47763852	splice site	probably null
R1625:Cfap43	UTSW	19	47751088	missense	probably damaging	1.00
R1679:Cfap43	UTSW	19	47773114	missense	probably benign	0.00
R1690:Cfap43	UTSW	19	47751066	critical splice donor site	probably null
R1820:Cfap43	UTSW	19	47897216	missense	probably damaging	0.99
R1891:Cfap43	UTSW	19	47813941	missense	probably damaging	0.97
R1956:Cfap43	UTSW	19	47897210	missense	probably benign	0.19
R1958:Cfap43	UTSW	19	47897210	missense	probably benign	0.19
R2110:Cfap43	UTSW	19	47835758	missense	probably damaging	1.00
R2118:Cfap43	UTSW	19	47770438	missense	probably damaging	1.00
R2290:Cfap43	UTSW	19	47773135	missense	probably damaging	0.99
R3691:Cfap43	UTSW	19	47897073	missense	probably benign	0.01
R3765:Cfap43	UTSW	19	47835575	missense	probably benign	0.01
R3917:Cfap43	UTSW	19	47897750	missense	probably benign	0.00
R3924:Cfap43	UTSW	19	47797116	missense	probably benign	0.00
R3925:Cfap43	UTSW	19	47797116	missense	probably benign	0.00
R3947:Cfap43	UTSW	19	47765979	missense	probably benign	0.28
R4256:Cfap43	UTSW	19	47782405	missense	probably benign	0.06
R4385:Cfap43	UTSW	19	47797129	missense	probably benign	0.28
R4395:Cfap43	UTSW	19	47751913	missense	probably benign	0.00
R4405:Cfap43	UTSW	19	47739797	missense	possibly damaging	0.57
R4541:Cfap43	UTSW	19	47748015	missense	probably benign	0.02
R4583:Cfap43	UTSW	19	47837216	missense	probably null	0.99
R4690:Cfap43	UTSW	19	47747859	missense	probably benign	0.45
R4852:Cfap43	UTSW	19	47897111	missense	possibly damaging	0.87
R5185:Cfap43	UTSW	19	47780394	missense	probably benign	0.00
R5192:Cfap43	UTSW	19	47825925	missense	probably damaging	1.00
R5196:Cfap43	UTSW	19	47825925	missense	probably damaging	1.00
R5197:Cfap43	UTSW	19	47897372	missense	probably damaging	1.00
R5205:Cfap43	UTSW	19	47897548	missense	possibly damaging	0.76
R5425:Cfap43	UTSW	19	47896932	missense	possibly damaging	0.94
R5516:Cfap43	UTSW	19	47738209	splice site	probably null
R5644:Cfap43	UTSW	19	47795675	missense	possibly damaging	0.66
R5844:Cfap43	UTSW	19	47795696	missense	probably benign
R5901:Cfap43	UTSW	19	47897099	missense	probably damaging	0.97
R5910:Cfap43	UTSW	19	47780271	missense	possibly damaging	0.63
R5920:Cfap43	UTSW	19	47760896	missense	possibly damaging	0.88
R5963:Cfap43	UTSW	19	47745574	missense	probably benign	0.42
R6817:Cfap43	UTSW	19	47756085	missense	possibly damaging	0.88
R6974:Cfap43	UTSW	19	47785278	critical splice donor site	probably null
R7219:Cfap43	UTSW	19	47791473	missense	probably benign	0.02
R7270:Cfap43	UTSW	19	47739785	missense	possibly damaging	0.86
R7733:Cfap43	UTSW	19	47897993	missense	possibly damaging	0.75
R7995:Cfap43	UTSW	19	47898023	missense	probably damaging	1.00
R8013:Cfap43	UTSW	19	47773109	missense	probably damaging	0.99
R8176:Cfap43	UTSW	19	47795675	missense	probably benign	0.00
R8242:Cfap43	UTSW	19	47897369	missense	probably damaging	1.00
R8303:Cfap43	UTSW	19	47765835	nonsense	probably null
R8333:Cfap43	UTSW	19	47897326	nonsense	probably null
R8353:Cfap43	UTSW	19	47746647	missense	probably damaging	1.00
R8453:Cfap43	UTSW	19	47746647	missense	probably damaging	1.00
R8474:Cfap43	UTSW	19	47897924	missense	probably benign	0.32
R8478:Cfap43	UTSW	19	47776076	missense	probably benign	0.02
R8676:Cfap43	UTSW	19	47748017	missense	possibly damaging	0.95
R8928:Cfap43	UTSW	19	47815960	missense	probably benign	0.00
R9190:Cfap43	UTSW	19	47737854	missense	possibly damaging	0.65
R9426:Cfap43	UTSW	19	47825798	missense	probably damaging	0.99
R9450:Cfap43	UTSW	19	47897871	missense	probably benign	0.23
R9491:Cfap43	UTSW	19	47812066	critical splice donor site	probably null
R9515:Cfap43	UTSW	19	47785375	missense	probably damaging	1.00
R9732:Cfap43	UTSW	19	47787007	missense	probably damaging	1.00

Posted On

2015-04-16