Mutagenetix > Incidental Mutation

Incidental Mutation 'R4541:Cfap43'

333560

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

041777-MU

Accession Numbers

Essential gene?

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

Stock #

R4541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47723706-47825893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47736454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1346 (V1346I)

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: V1346I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: V1346I

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

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (51/53)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,769,676 (GRCm39)	P73S	probably benign	Het
4930533L02Rik	G	A	7: 124,917,750 (GRCm39)		noncoding transcript	Het
Acot4	A	T	12: 84,090,022 (GRCm39)	I240F	probably benign	Het
B4galt6	A	G	18: 20,878,496 (GRCm39)	V10A	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Ccnb3	T	C	X: 6,875,308 (GRCm39)	T424A	probably benign	Het
Cd8a	A	T	6: 71,350,856 (GRCm39)	D107V	probably benign	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Ceacam12	G	A	7: 17,805,648 (GRCm39)	M278I	probably benign	Het
Clic5	C	T	17: 44,552,956 (GRCm39)	T70M	probably damaging	Het
Dbpht2	A	T	12: 74,345,934 (GRCm39)		noncoding transcript	Het
Ddhd1	G	A	14: 45,860,313 (GRCm39)	R140*	probably null	Het
Evpl	T	G	11: 116,123,470 (GRCm39)	I301L	probably benign	Het
Glul	T	A	1: 153,778,782 (GRCm39)	Y30*	probably null	Het
Itgad	A	T	7: 127,797,287 (GRCm39)	H878L	probably benign	Het
Kcnk10	A	G	12: 98,402,536 (GRCm39)	I301T	probably damaging	Het
Klhl14	A	T	18: 21,687,696 (GRCm39)	Y575*	probably null	Het
Mrps2	G	T	2: 28,358,412 (GRCm39)		probably benign	Het
Mymx	GCC	GC	17: 45,912,519 (GRCm39)		probably null	Het
Napb	G	A	2: 148,551,229 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,171,706 (GRCm39)		noncoding transcript	Het
Or10g9b	A	C	9: 39,917,589 (GRCm39)	S219A	possibly damaging	Het
Or4f15	A	G	2: 111,813,981 (GRCm39)	I146T	probably benign	Het
Piwil4	C	A	9: 14,629,612 (GRCm39)	M438I	probably damaging	Het
Pla2r1	C	T	2: 60,258,082 (GRCm39)	D1199N	probably damaging	Het
Pmpca	T	G	2: 26,280,201 (GRCm39)		probably benign	Het
Prkcq	G	T	2: 11,288,623 (GRCm39)	M525I	possibly damaging	Het
Rnf225	T	C	7: 12,662,520 (GRCm39)		probably null	Het
Sco1	G	T	11: 66,943,668 (GRCm39)	A50S	probably benign	Het
Slc12a2	T	A	18: 58,046,037 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,112,849 (GRCm39)	V148A	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Tbc1d10c	G	T	19: 4,239,473 (GRCm39)	R96S	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,222 (GRCm39)	I919N	probably damaging	Het
Tcea1	T	C	1: 4,963,659 (GRCm39)	L233P	probably damaging	Het
Tlcd4	A	G	3: 121,028,884 (GRCm39)	M1T	probably null	Het
Tmem231	T	C	8: 112,641,224 (GRCm39)	T223A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tomm34	A	G	2: 163,896,719 (GRCm39)	Y243H	probably benign	Het
Tubgcp4	A	T	2: 121,025,907 (GRCm39)	N584I	probably benign	Het
Vldlr	T	C	19: 27,216,192 (GRCm39)	C7R	probably damaging	Het
Vmn1r42	A	T	6: 89,822,533 (GRCm39)	M12K	probably benign	Het
Vsig10	C	T	5: 117,490,881 (GRCm39)		probably benign	Het
Zfp974	C	G	7: 27,625,829 (GRCm39)	V14L	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
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'- GACAGGTGTGCTATTTCCTACTA -3'
(R):5'- AGGCTTATGCTAATGGTCTGTT -3'

Sequencing Primer
(F):5'- AGGTGTGCTATTTCCTACTAGTATAC -3'
(R):5'- AGTTGGTTGGTTGGTTGGTTG -3'

Posted On

2015-08-18