Mutagenetix > Incidental Mutation

Incidental Mutation 'R5901:Cfap43'

456352

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

043239-MU

Accession Numbers

Essential gene?

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

Stock #

R5901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47723706-47825893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47885538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 359 (D359G)

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: D359G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093697
Gene: ENSMUSG00000044948
AA Change: D359G

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	T	A	11: 99,728,163 (GRCm39)	S227C	unknown	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adamts15	C	T	9: 30,813,786 (GRCm39)	R793H	probably damaging	Het
Ankra2	A	G	13: 98,407,644 (GRCm39)	E38G	probably damaging	Het
Aqp8	G	A	7: 123,061,807 (GRCm39)	C8Y	probably damaging	Het
Atg9b	A	G	5: 24,597,017 (GRCm39)		probably benign	Het
Atp6v1b1	A	G	6: 83,735,339 (GRCm39)	E469G	possibly damaging	Het
B4gat1	T	A	19: 5,089,241 (GRCm39)	Y79*	probably null	Het
BB019430	T	A	10: 58,540,014 (GRCm39)		noncoding transcript	Het
Calhm3	T	C	19: 47,146,052 (GRCm39)	Y51C	probably damaging	Het
Ccr2	C	T	9: 123,906,239 (GRCm39)	T173I	possibly damaging	Het
Dop1b	A	G	16: 93,566,639 (GRCm39)	E1022G	possibly damaging	Het
Drd2	T	A	9: 49,318,259 (GRCm39)	C400*	probably null	Het
Efcab7	T	A	4: 99,766,941 (GRCm39)	H495Q	probably damaging	Het
Faim	T	C	9: 98,874,195 (GRCm39)	V29A	probably benign	Het
Fancd2	T	C	6: 113,526,326 (GRCm39)	S350P	probably damaging	Het
Fbxw16	T	C	9: 109,270,285 (GRCm39)	E152G	probably benign	Het
Kif17	T	C	4: 138,025,643 (GRCm39)		probably null	Het
Kif24	A	T	4: 41,428,604 (GRCm39)	S119T	probably damaging	Het
Ly6k	A	T	15: 74,670,429 (GRCm39)	S38T	probably benign	Het
Mapk10	A	G	5: 103,061,158 (GRCm39)	S430P	probably damaging	Het
Megf10	G	A	18: 57,410,180 (GRCm39)	A654T	probably benign	Het
Mlph	T	C	1: 90,867,536 (GRCm39)	L450P	probably damaging	Het
Otof	T	C	5: 30,532,323 (GRCm39)	D1603G	probably damaging	Het
Pdcd11	T	C	19: 47,116,771 (GRCm39)	S1580P	possibly damaging	Het
Rad54b	G	A	4: 11,595,919 (GRCm39)	R232H	possibly damaging	Het
Sar1b	C	T	11: 51,670,576 (GRCm39)	T40I	possibly damaging	Het
Scyl2	C	T	10: 89,496,124 (GRCm39)	S242N	probably benign	Het
Sema4b	A	G	7: 79,874,715 (GRCm39)	N702D	possibly damaging	Het
Slc16a11	A	G	11: 70,107,172 (GRCm39)	I394V	probably benign	Het
Stard9	A	C	2: 120,531,851 (GRCm39)	T2703P	probably damaging	Het
Stat5b	A	T	11: 100,695,733 (GRCm39)	L83Q	possibly damaging	Het
Tas2r119	T	A	15: 32,177,932 (GRCm39)	V166D	possibly damaging	Het
Tmem117	T	A	15: 94,612,839 (GRCm39)	I125N	probably benign	Het
Tmem39a	T	C	16: 38,393,568 (GRCm39)	I89T	probably benign	Het
Ubr4	T	A	4: 139,178,565 (GRCm39)	H3272Q	probably damaging	Het
Vmn1r7	T	C	6: 57,001,591 (GRCm39)	E223G	probably damaging	Het
Vmn2r78	T	C	7: 86,603,796 (GRCm39)	V658A	probably damaging	Het
Xirp2	A	T	2: 67,343,410 (GRCm39)	T1884S	possibly damaging	Het
Xkr4	A	T	1: 3,286,901 (GRCm39)	F430I	probably damaging	Het
Yae1d1	A	G	13: 18,164,200 (GRCm39)	M1T	probably null	Het
Zfand4	T	C	6: 116,265,084 (GRCm39)	V183A	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
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
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'- TTAGGTGGTAGTCACTCAGCCC -3'
(R):5'- GCAGGTCATGAAGTGGTTTC -3'

Sequencing Primer
(F):5'- TAGTCACTCAGCCCACTGG -3'
(R):5'- AAGTGGTTTCAGATGGCCCTCAC -3'

Posted On

2017-02-15