Mutagenetix > Incidental Mutation

Incidental Mutation 'R0576:Cfap43'

56252

Institutional Source

Beutler Lab

Gene Symbol

Cfap43

Ensembl Gene

ENSMUSG00000044948

Gene Name

cilia and flagella associated protein 43

Synonyms

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

MMRRC Submission

038766-MU

Accession Numbers

Essential gene?

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

Stock #

R0576 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

47737561-47919299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47797140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 437 (N437S)

Ref Sequence

ENSEMBL: ENSMUSP00000125007 (fasta)

Gene Model

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

AlphaFold

E9Q7R9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000026048

Predicted Effect

probably benign
Transcript: ENSMUST00000160247
AA Change: N437S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: N437S

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: ENSMUST00000160970

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

92% (47/51)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc77	T	A	6: 120,331,848 (GRCm38)	L335F	probably benign	Het
Ccr3	T	A	9: 124,029,009 (GRCm38)	F127Y	probably damaging	Het
Cfh	A	G	1: 140,136,815 (GRCm38)	V365A	probably damaging	Het
Copg1	T	A	6: 87,897,963 (GRCm38)	V380D	probably damaging	Het
Cxxc1	T	C	18: 74,220,185 (GRCm38)	I497T	possibly damaging	Het
Disp3	G	A	4: 148,241,590 (GRCm38)	T1237I	possibly damaging	Het
Dnaaf9	A	T	2: 130,713,470 (GRCm38)	F839L	probably benign	Het
Dnah7a	A	T	1: 53,636,087 (GRCm38)	F360L	probably benign	Het
Dnhd1	C	T	7: 105,714,045 (GRCm38)	A3938V	probably damaging	Het
Eif4g1	A	G	16: 20,684,068 (GRCm38)	D1000G	probably damaging	Het
Emsy	A	T	7: 98,593,776 (GRCm38)	V1052D	probably damaging	Het
Ep400	A	G	5: 110,711,093 (GRCm38)		probably benign	Het
Fa2h	T	C	8: 111,356,147 (GRCm38)	H146R	probably damaging	Het
Gad1	G	A	2: 70,594,652 (GRCm38)	C430Y	probably benign	Het
Gtse1	T	C	15: 85,869,051 (GRCm38)	S456P	probably damaging	Het
Gucy2g	T	C	19: 55,198,770 (GRCm38)	T1073A	probably damaging	Het
Hectd2	T	G	19: 36,585,497 (GRCm38)	N3K	probably benign	Het
Hmcn1	A	T	1: 150,650,017 (GRCm38)	C3318*	probably null	Het
Lipo2	C	T	19: 33,749,424 (GRCm38)	S71N	probably benign	Het
Mynn	G	T	3: 30,607,068 (GRCm38)	D100Y	probably damaging	Het
Myo16	G	A	8: 10,562,318 (GRCm38)		probably null	Het
Npr2	G	T	4: 43,640,947 (GRCm38)	K384N	probably benign	Het
Nrde2	A	G	12: 100,132,233 (GRCm38)	V725A	possibly damaging	Het
Or11h23	T	A	14: 50,711,204 (GRCm38)	S291R	probably damaging	Het
Or2l13	A	G	16: 19,487,188 (GRCm38)	M117V	probably damaging	Het
Otud7a	C	T	7: 63,685,518 (GRCm38)	P101S	possibly damaging	Het
Pcdhb7	T	A	18: 37,342,357 (GRCm38)	L182Q	probably benign	Het
Pdss1	A	G	2: 22,915,413 (GRCm38)		probably null	Het
Ppargc1b	T	A	18: 61,311,441 (GRCm38)	H233L	probably damaging	Het
Ppm1b	A	G	17: 85,013,559 (GRCm38)		probably null	Het
Prdm14	A	T	1: 13,125,725 (GRCm38)	S37R	possibly damaging	Het
Prss45	A	G	9: 110,838,429 (GRCm38)	T39A	probably benign	Het
Qars1	T	C	9: 108,514,962 (GRCm38)		probably benign	Het
Rxfp2	T	G	5: 150,038,247 (GRCm38)	H77Q	probably benign	Het
Scd4	A	G	19: 44,341,246 (GRCm38)	M219V	probably benign	Het
Sec24b	G	T	3: 130,041,336 (GRCm38)	P71Q	probably benign	Het
Snd1	T	G	6: 28,886,577 (GRCm38)	V861G	probably benign	Het
Sspo	A	G	6: 48,464,942 (GRCm38)		probably null	Het
Tas2r129	A	G	6: 132,951,534 (GRCm38)	T145A	probably benign	Het
Tbc1d31	T	A	15: 57,969,724 (GRCm38)	I953N	possibly damaging	Het
Tlr4	A	G	4: 66,839,495 (GRCm38)	N175S	probably benign	Het
Tspyl4	A	G	10: 34,298,522 (GRCm38)	N337D	probably damaging	Het
Ttn	A	T	2: 76,812,201 (GRCm38)	L13330H	probably damaging	Het
Usp33	T	A	3: 152,384,119 (GRCm38)	Y765*	probably null	Het
Vmn2r59	T	A	7: 42,047,105 (GRCm38)	Y71F	probably benign	Het
Zbed6	A	G	1: 133,657,838 (GRCm38)	F587S	probably benign	Het
Zfhx4	T	C	3: 5,402,101 (GRCm38)	S2465P	probably damaging	Het

Other mutations in Cfap43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Cfap43	APN	19	47,830,475 (GRCm38)	missense	probably benign	0.08
IGL00325:Cfap43	APN	19	47,823,188 (GRCm38)	splice site	probably benign
IGL00918:Cfap43	APN	19	47,896,661 (GRCm38)	missense	probably damaging	1.00
IGL01402:Cfap43	APN	19	47,795,666 (GRCm38)	missense	probably benign	0.25
IGL01404:Cfap43	APN	19	47,795,666 (GRCm38)	missense	probably benign	0.25
IGL01656:Cfap43	APN	19	47,751,900 (GRCm38)	missense	possibly damaging	0.95
IGL01738:Cfap43	APN	19	47,797,185 (GRCm38)	missense	probably damaging	0.97
IGL02168:Cfap43	APN	19	47,751,923 (GRCm38)	splice site	probably benign
IGL02225:Cfap43	APN	19	47,812,177 (GRCm38)	missense	probably benign	0.00
IGL02308:Cfap43	APN	19	47,748,024 (GRCm38)	missense	probably benign
IGL02354:Cfap43	APN	19	47,897,413 (GRCm38)	nonsense	probably null
IGL02361:Cfap43	APN	19	47,897,413 (GRCm38)	nonsense	probably null
IGL03283:Cfap43	APN	19	47,791,412 (GRCm38)	splice site	probably benign
3-1:Cfap43	UTSW	19	47,751,855 (GRCm38)	missense	probably benign	0.02
IGL03046:Cfap43	UTSW	19	47,815,863 (GRCm38)	missense	probably damaging	1.00
PIT4495001:Cfap43	UTSW	19	47,897,302 (GRCm38)	missense	probably damaging	1.00
R0270:Cfap43	UTSW	19	47,797,203 (GRCm38)	splice site	probably benign
R0421:Cfap43	UTSW	19	47,835,575 (GRCm38)	missense	probably benign	0.00
R0433:Cfap43	UTSW	19	47,825,771 (GRCm38)	missense	probably benign	0.44
R0646:Cfap43	UTSW	19	47,763,676 (GRCm38)	missense	probably benign	0.25
R0740:Cfap43	UTSW	19	47,835,804 (GRCm38)	missense	possibly damaging	0.95
R0836:Cfap43	UTSW	19	47,815,846 (GRCm38)	missense	probably benign	0.02
R0899:Cfap43	UTSW	19	47,747,994 (GRCm38)	missense	possibly damaging	0.93
R1171:Cfap43	UTSW	19	47,835,711 (GRCm38)	missense	probably benign	0.03
R1271:Cfap43	UTSW	19	47,747,948 (GRCm38)	missense	probably damaging	0.98
R1271:Cfap43	UTSW	19	47,739,744 (GRCm38)	missense	probably benign	0.22
R1371:Cfap43	UTSW	19	47,835,606 (GRCm38)	missense	possibly damaging	0.95
R1469:Cfap43	UTSW	19	47,896,875 (GRCm38)	missense	probably damaging	1.00
R1541:Cfap43	UTSW	19	47,763,852 (GRCm38)	splice site	probably null
R1625:Cfap43	UTSW	19	47,751,088 (GRCm38)	missense	probably damaging	1.00
R1679:Cfap43	UTSW	19	47,773,114 (GRCm38)	missense	probably benign	0.00
R1690:Cfap43	UTSW	19	47,751,066 (GRCm38)	critical splice donor site	probably null
R1820:Cfap43	UTSW	19	47,897,216 (GRCm38)	missense	probably damaging	0.99
R1891:Cfap43	UTSW	19	47,813,941 (GRCm38)	missense	probably damaging	0.97
R1956:Cfap43	UTSW	19	47,897,210 (GRCm38)	missense	probably benign	0.19
R1958:Cfap43	UTSW	19	47,897,210 (GRCm38)	missense	probably benign	0.19
R2110:Cfap43	UTSW	19	47,835,758 (GRCm38)	missense	probably damaging	1.00
R2118:Cfap43	UTSW	19	47,770,438 (GRCm38)	missense	probably damaging	1.00
R2290:Cfap43	UTSW	19	47,773,135 (GRCm38)	missense	probably damaging	0.99
R3691:Cfap43	UTSW	19	47,897,073 (GRCm38)	missense	probably benign	0.01
R3765:Cfap43	UTSW	19	47,835,575 (GRCm38)	missense	probably benign	0.01
R3917:Cfap43	UTSW	19	47,897,750 (GRCm38)	missense	probably benign	0.00
R3924:Cfap43	UTSW	19	47,797,116 (GRCm38)	missense	probably benign	0.00
R3925:Cfap43	UTSW	19	47,797,116 (GRCm38)	missense	probably benign	0.00
R3947:Cfap43	UTSW	19	47,765,979 (GRCm38)	missense	probably benign	0.28
R4256:Cfap43	UTSW	19	47,782,405 (GRCm38)	missense	probably benign	0.06
R4385:Cfap43	UTSW	19	47,797,129 (GRCm38)	missense	probably benign	0.28
R4395:Cfap43	UTSW	19	47,751,913 (GRCm38)	missense	probably benign	0.00
R4405:Cfap43	UTSW	19	47,739,797 (GRCm38)	missense	possibly damaging	0.57
R4541:Cfap43	UTSW	19	47,748,015 (GRCm38)	missense	probably benign	0.02
R4583:Cfap43	UTSW	19	47,837,216 (GRCm38)	missense	probably null	0.99
R4690:Cfap43	UTSW	19	47,747,859 (GRCm38)	missense	probably benign	0.45
R4852:Cfap43	UTSW	19	47,897,111 (GRCm38)	missense	possibly damaging	0.87
R5185:Cfap43	UTSW	19	47,780,394 (GRCm38)	missense	probably benign	0.00
R5192:Cfap43	UTSW	19	47,825,925 (GRCm38)	missense	probably damaging	1.00
R5196:Cfap43	UTSW	19	47,825,925 (GRCm38)	missense	probably damaging	1.00
R5197:Cfap43	UTSW	19	47,897,372 (GRCm38)	missense	probably damaging	1.00
R5205:Cfap43	UTSW	19	47,897,548 (GRCm38)	missense	possibly damaging	0.76
R5425:Cfap43	UTSW	19	47,896,932 (GRCm38)	missense	possibly damaging	0.94
R5516:Cfap43	UTSW	19	47,738,209 (GRCm38)	splice site	probably null
R5644:Cfap43	UTSW	19	47,795,675 (GRCm38)	missense	possibly damaging	0.66
R5844:Cfap43	UTSW	19	47,795,696 (GRCm38)	missense	probably benign
R5901:Cfap43	UTSW	19	47,897,099 (GRCm38)	missense	probably damaging	0.97
R5910:Cfap43	UTSW	19	47,780,271 (GRCm38)	missense	possibly damaging	0.63
R5920:Cfap43	UTSW	19	47,760,896 (GRCm38)	missense	possibly damaging	0.88
R5963:Cfap43	UTSW	19	47,745,574 (GRCm38)	missense	probably benign	0.42
R6817:Cfap43	UTSW	19	47,756,085 (GRCm38)	missense	possibly damaging	0.88
R6974:Cfap43	UTSW	19	47,785,278 (GRCm38)	critical splice donor site	probably null
R7219:Cfap43	UTSW	19	47,791,473 (GRCm38)	missense	probably benign	0.02
R7270:Cfap43	UTSW	19	47,739,785 (GRCm38)	missense	possibly damaging	0.86
R7733:Cfap43	UTSW	19	47,897,993 (GRCm38)	missense	possibly damaging	0.75
R7995:Cfap43	UTSW	19	47,898,023 (GRCm38)	missense	probably damaging	1.00
R8013:Cfap43	UTSW	19	47,773,109 (GRCm38)	missense	probably damaging	0.99
R8176:Cfap43	UTSW	19	47,795,675 (GRCm38)	missense	probably benign	0.00
R8242:Cfap43	UTSW	19	47,897,369 (GRCm38)	missense	probably damaging	1.00
R8303:Cfap43	UTSW	19	47,765,835 (GRCm38)	nonsense	probably null
R8333:Cfap43	UTSW	19	47,897,326 (GRCm38)	nonsense	probably null
R8353:Cfap43	UTSW	19	47,746,647 (GRCm38)	missense	probably damaging	1.00
R8453:Cfap43	UTSW	19	47,746,647 (GRCm38)	missense	probably damaging	1.00
R8474:Cfap43	UTSW	19	47,897,924 (GRCm38)	missense	probably benign	0.32
R8478:Cfap43	UTSW	19	47,776,076 (GRCm38)	missense	probably benign	0.02
R8676:Cfap43	UTSW	19	47,748,017 (GRCm38)	missense	possibly damaging	0.95
R8928:Cfap43	UTSW	19	47,815,960 (GRCm38)	missense	probably benign	0.00
R9190:Cfap43	UTSW	19	47,737,854 (GRCm38)	missense	possibly damaging	0.65
R9426:Cfap43	UTSW	19	47,825,798 (GRCm38)	missense	probably damaging	0.99
R9450:Cfap43	UTSW	19	47,897,871 (GRCm38)	missense	probably benign	0.23
R9491:Cfap43	UTSW	19	47,812,066 (GRCm38)	critical splice donor site	probably null
R9515:Cfap43	UTSW	19	47,785,375 (GRCm38)	missense	probably damaging	1.00
R9732:Cfap43	UTSW	19	47,787,007 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAAGCCCCTGTCCCATTATTCC -3'
(R):5'- AGGCACCCAGGTATGATAGTCTGTG -3'

Sequencing Primer
(F):5'- ACTCCCTGGAGAGATACTCTTTGAG -3'
(R):5'- ATGATAGTCTGTGCCTGTAACC -3'

Posted On

2013-07-11