Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4495001:Cfap43'

555985

Institutional Source

Beutler Lab

Gene Symbol

Cfap43

Ensembl Gene

ENSMUSG00000044948

Gene Name

cilia and flagella associated protein 43

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

PIT4495001 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

47723706-47825893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47885741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 291 (C291W)

Ref Sequence

ENSEMBL: ENSMUSP00000093697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095998]

AlphaFold

E9Q7R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095998
AA Change: C291W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093697
Gene: ENSMUSG00000044948
AA Change: C291W

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	27	82	3e-3	SMART
low complexity region	115	135	N/A	INTRINSIC
Mab-21	194	528	4.37e-84	SMART

Coding Region Coverage

1x: 93.1%
3x: 90.6%
10x: 84.0%
20x: 69.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,460,755 (GRCm39)	V384D	probably damaging	Het
Adamts7	A	G	9: 90,056,675 (GRCm39)	E248G	probably damaging	Het
Aff1	A	G	5: 103,997,391 (GRCm39)	T1162A	probably benign	Het
Ank3	C	A	10: 69,828,902 (GRCm39)	H2524N		Het
Aoc1l3	A	T	6: 48,964,710 (GRCm39)	E239D	possibly damaging	Het
Cct7	T	A	6: 85,436,943 (GRCm39)	N60K	probably damaging	Het
Cobl	G	A	11: 12,204,596 (GRCm39)	T702I	probably benign	Het
Col5a1	C	A	2: 27,914,788 (GRCm39)	Q1624K	unknown	Het
Cubn	T	A	2: 13,496,561 (GRCm39)	T22S	probably benign	Het
Def8	A	C	8: 124,186,292 (GRCm39)	M344L	probably benign	Het
Fzd7	A	G	1: 59,523,466 (GRCm39)	T450A	probably benign	Het
Gm11214	G	A	4: 63,580,922 (GRCm39)	L76F	probably benign	Het
Gm5797	T	C	14: 7,329,530 (GRCm38)	T153A	probably benign	Het
Gsk3a	A	C	7: 24,935,064 (GRCm39)	S129A	probably damaging	Het
Intu	A	G	3: 40,652,033 (GRCm39)	Q830R	probably benign	Het
Kcnma1	C	T	14: 23,475,665 (GRCm39)	V750I	probably benign	Het
Mlh1	T	A	9: 111,076,328 (GRCm39)	Y343F	probably benign	Het
Myb	C	T	10: 21,028,521 (GRCm39)	R114H	probably damaging	Het
Neb	A	T	2: 52,102,748 (GRCm39)	D4508E	probably benign	Het
Nell2	T	C	15: 95,281,608 (GRCm39)	D366G	probably benign	Het
Or1o3	A	C	17: 37,573,721 (GRCm39)	V278G	possibly damaging	Het
Or4d6	A	G	19: 12,086,076 (GRCm39)	I52T	possibly damaging	Het
Or5ac25	A	C	16: 59,181,871 (GRCm39)	F237V	probably damaging	Het
Or5h26	G	T	16: 58,988,337 (GRCm39)	H56Q	possibly damaging	Het
Or7a38	T	C	10: 78,752,821 (GRCm39)	V49A	probably benign	Het
Pcdhgc5	C	T	18: 37,954,030 (GRCm39)	H435Y	possibly damaging	Het
Pira12	A	T	7: 3,900,457 (GRCm39)	C98S	probably damaging	Het
Pnpla7	T	A	2: 24,932,151 (GRCm39)	D935E	probably damaging	Het
Pole	A	G	5: 110,451,780 (GRCm39)	E874G	probably damaging	Het
Psd3	A	C	8: 68,416,565 (GRCm39)	I158R	probably benign	Het
Pzp	C	A	6: 128,479,192 (GRCm39)	V654L	probably benign	Het
Rabep1	A	G	11: 70,808,405 (GRCm39)	T454A	probably damaging	Het
Rad54l2	C	A	9: 106,593,343 (GRCm39)	S419I	probably benign	Het
Rin3	A	G	12: 102,335,295 (GRCm39)	D402G	probably benign	Het
Ripk4	T	C	16: 97,544,370 (GRCm39)	H759R	probably damaging	Het
Rlig1	A	T	10: 100,419,812 (GRCm39)	F90I	probably damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Sf3a3	C	T	4: 124,622,113 (GRCm39)	P391L	probably damaging	Het
Snx9	T	A	17: 5,970,401 (GRCm39)	I379K	possibly damaging	Het
Syt5	A	C	7: 4,544,077 (GRCm39)		probably null	Het
Tex47	A	G	5: 7,355,011 (GRCm39)	D64G	probably benign	Het
Zbbx	C	A	3: 74,968,944 (GRCm39)	W509L	probably damaging	Het
Zer1	T	C	2: 29,993,555 (GRCm39)	K551R	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
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
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'- GTCAAGATGAAAGGCATGGACTTC -3'
(R):5'- ACAGCTTCCACCCAGAGTTC -3'

Sequencing Primer
(F):5'- CCCCGAGCGGAACTTGATTTTG -3'
(R):5'- TTTCAACGCCCCTGGAACG -3'

Posted On

2019-06-07