Mutagenetix > Incidental Mutation

Incidental Mutation 'R1820:Cfap43'

204825

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

039848-MU

Accession Numbers

Essential gene?

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

Stock #

R1820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47723706-47825893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47885655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 320 (H320L)

Ref Sequence

ENSEMBL: ENSMUSP00000093697 (fasta)

Gene Model

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

AlphaFold

E9Q7R9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000026048

Predicted Effect

probably damaging
Transcript: ENSMUST00000095998
AA Change: H320L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093697
Gene: ENSMUSG00000044948
AA Change: H320L

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,197,018 (GRCm39)	V197A	possibly damaging	Het
9230109A22Rik	T	C	15: 25,139,176 (GRCm39)		noncoding transcript	Het
Acbd3	A	G	1: 180,572,703 (GRCm39)	N321S	probably benign	Het
Actr3b	T	C	5: 26,054,156 (GRCm39)		probably null	Het
Aldh5a1	T	C	13: 25,111,555 (GRCm39)	D124G	probably benign	Het
Arhgap35	G	A	7: 16,295,874 (GRCm39)	R1064W	possibly damaging	Het
Arhgef9	T	A	X: 94,125,142 (GRCm39)	I225F	probably damaging	Het
Arl16	T	C	11: 120,357,587 (GRCm39)	T43A	probably damaging	Het
Camsap3	T	C	8: 3,653,485 (GRCm39)	W409R	probably damaging	Het
Chac2	T	A	11: 30,927,496 (GRCm39)	N141I	probably damaging	Het
Chtf18	C	A	17: 25,944,913 (GRCm39)	G211C	probably damaging	Het
Cplane1	A	G	15: 8,299,129 (GRCm39)	K3106E	unknown	Het
Cwf19l1	T	A	19: 44,115,826 (GRCm39)	Y201F	probably benign	Het
Dcun1d1	A	T	3: 35,973,153 (GRCm39)	L114*	probably null	Het
Fdps	A	T	3: 89,002,350 (GRCm39)	H249Q	probably benign	Het
Fhip1a	T	A	3: 85,573,136 (GRCm39)	T938S	probably damaging	Het
Gabrg1	T	A	5: 70,931,756 (GRCm39)	Y329F	probably damaging	Het
Kctd8	T	A	5: 69,497,684 (GRCm39)	I321F	probably damaging	Het
Kdm5b	G	T	1: 134,525,408 (GRCm39)	R299L	possibly damaging	Het
Kif23	T	C	9: 61,833,720 (GRCm39)	T494A	possibly damaging	Het
Kmt2e	A	G	5: 23,678,545 (GRCm39)	H208R	probably damaging	Het
Lipo5	A	T	19: 33,441,995 (GRCm39)		probably null	Het
Lrrc28	G	T	7: 67,290,859 (GRCm39)	T54K	probably damaging	Het
Luc7l2	G	A	6: 38,575,754 (GRCm39)		probably null	Het
Man2a2	A	G	7: 80,008,681 (GRCm39)	F899L	probably benign	Het
Myo9b	T	C	8: 71,786,002 (GRCm39)	I633T	probably damaging	Het
Nynrin	A	T	14: 56,107,835 (GRCm39)	I981F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,612 (GRCm39)	S138T	probably damaging	Het
Or8g28	A	G	9: 39,169,695 (GRCm39)	I91T	possibly damaging	Het
Pank1	A	G	19: 34,855,084 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,637,336 (GRCm39)	A47V	probably damaging	Het
Plekhs1	A	G	19: 56,466,954 (GRCm39)	R262G	possibly damaging	Het
Pnp2	C	A	14: 51,201,914 (GRCm39)	P300Q	possibly damaging	Het
Polq	T	A	16: 36,849,780 (GRCm39)	S345T	possibly damaging	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Psmd5	T	C	2: 34,760,758 (GRCm39)		probably null	Het
Rfx6	T	G	10: 51,599,221 (GRCm39)		probably null	Het
Rhbdd2	G	A	5: 135,664,903 (GRCm39)	C78Y	probably damaging	Het
Rnf157	G	T	11: 116,245,477 (GRCm39)	P313T	probably damaging	Het
Ryr2	A	G	13: 11,602,202 (GRCm39)	L4560P	probably damaging	Het
Scai	A	T	2: 38,996,990 (GRCm39)	M268K	possibly damaging	Het
Scd3	A	T	19: 44,230,245 (GRCm39)	T343S	probably benign	Het
Scimp	A	T	11: 70,682,423 (GRCm39)	S98T	probably benign	Het
Sfrp2	A	G	3: 83,680,461 (GRCm39)	N207S	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Sp1	T	A	15: 102,317,511 (GRCm39)	S343R	possibly damaging	Het
Spata31d1a	A	T	13: 59,849,069 (GRCm39)	C1020S	possibly damaging	Het
Spink5	A	G	18: 44,122,486 (GRCm39)	N317S	possibly damaging	Het
Sptbn2	A	G	19: 4,776,624 (GRCm39)	D224G	probably damaging	Het
St8sia3	T	C	18: 64,402,703 (GRCm39)	I114T	probably damaging	Het
Zscan5b	C	A	7: 6,242,162 (GRCm39)	H460Q	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
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'- AAAGCCTTGCCTGTCATCCG -3'
(R):5'- ATATGTTGTGTCTCCTCTACGG -3'

Sequencing Primer
(F):5'- GGAACTCTCGCTCATAGACAG -3'
(R):5'- GTGTCTCCTCTACGGCAAGAATAG -3'

Posted On

2014-06-23