Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Cfap43'

77971

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

039015-MU

Accession Numbers

Genbank: NM_027559

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47737561-47919299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47815846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 304 (V304L)

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: V304L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: V304L

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

0.1025

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,364,120	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,350,255	G7D	probably benign	Het
Alg14	A	G	3: 121,298,610	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379		probably benign	Het
Asphd2	A	T	5: 112,391,769	L66H	probably damaging	Het
Astl	T	C	2: 127,342,419	F21L	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,776		probably benign	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Ces1f	A	T	8: 93,270,024	S214T	probably damaging	Het
Col26a1	A	G	5: 136,765,300		probably null	Het
Cpa5	T	C	6: 30,623,211	S124P	probably damaging	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
D17H6S53E	A	T	17: 35,127,409		probably null	Het
D17Wsu92e	A	T	17: 27,786,138	S148R	probably damaging	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dnah11	G	A	12: 118,196,662	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519		probably benign	Het
Epn2	T	C	11: 61,519,491	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944		probably benign	Het
Fam217b	T	C	2: 178,420,989	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,999	H278R	probably benign	Het
Fhod3	T	A	18: 25,066,218	Y649N	probably damaging	Het
Gm5155	C	A	7: 17,904,981	A301E	possibly damaging	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Grap	T	A	11: 61,660,239	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,754,296	S670P	probably damaging	Het
Itga2	A	G	13: 114,856,679	V800A	probably damaging	Het
Itgae	A	T	11: 73,129,206	M845L	probably benign	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itpka	T	A	2: 119,750,831	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Kcnd2	T	C	6: 21,726,239		probably benign	Het
Kcnd2	T	A	6: 21,727,329	V627E	probably damaging	Het
Ktn1	A	G	14: 47,701,062		probably null	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Macf1	A	G	4: 123,494,882		probably null	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Nfkbia	C	A	12: 55,490,776	A211S	probably damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Otog	C	T	7: 46,269,362	T954I	possibly damaging	Het
Phlpp2	A	G	8: 109,937,106	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907		probably benign	Het
Plekha5	T	A	6: 140,589,634		probably benign	Het
Pmch	A	G	10: 88,091,224	I30V	probably benign	Het
Ppat	A	C	5: 76,922,501	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553	F85I	probably damaging	Het
Rbp3	T	G	14: 33,956,638	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,247,933	S85T	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Shc1	A	G	3: 89,422,969	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc30a7	T	A	3: 115,990,140		probably null	Het
Slc34a2	A	G	5: 53,067,707	T397A	probably benign	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Sorcs3	G	A	19: 48,487,394	V231I	probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Stard9	T	G	2: 120,696,999	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,687,430	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,741,940		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm3	C	T	2: 130,026,682		probably benign	Het
Thbs4	T	G	13: 92,758,038	D659A	probably damaging	Het
Tmed11	A	T	5: 108,795,309	M1K	probably null	Het
Tmpo	A	T	10: 91,161,953	C657*	probably null	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Urb1	T	C	16: 90,795,448	D308G	possibly damaging	Het
Vav3	A	G	3: 109,647,679	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,427,956	H231L	possibly damaging	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	Het

Other mutations in Cfap43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Cfap43	APN	19	47830475	missense	probably benign	0.08
IGL00325:Cfap43	APN	19	47823188	splice site	probably benign
IGL00918:Cfap43	APN	19	47896661	missense	probably damaging	1.00
IGL01402:Cfap43	APN	19	47795666	missense	probably benign	0.25
IGL01404:Cfap43	APN	19	47795666	missense	probably benign	0.25
IGL01656:Cfap43	APN	19	47751900	missense	possibly damaging	0.95
IGL01738:Cfap43	APN	19	47797185	missense	probably damaging	0.97
IGL02168:Cfap43	APN	19	47751923	splice site	probably benign
IGL02225:Cfap43	APN	19	47812177	missense	probably benign	0.00
IGL02308:Cfap43	APN	19	47748024	missense	probably benign
IGL02354:Cfap43	APN	19	47897413	nonsense	probably null
IGL02361:Cfap43	APN	19	47897413	nonsense	probably null
IGL03283:Cfap43	APN	19	47791412	splice site	probably benign
3-1:Cfap43	UTSW	19	47751855	missense	probably benign	0.02
IGL03046:Cfap43	UTSW	19	47815863	missense	probably damaging	1.00
PIT4495001:Cfap43	UTSW	19	47897302	missense	probably damaging	1.00
R0270:Cfap43	UTSW	19	47797203	splice site	probably benign
R0421:Cfap43	UTSW	19	47835575	missense	probably benign	0.00
R0433:Cfap43	UTSW	19	47825771	missense	probably benign	0.44
R0576:Cfap43	UTSW	19	47797140	missense	probably benign	0.00
R0646:Cfap43	UTSW	19	47763676	missense	probably benign	0.25
R0740:Cfap43	UTSW	19	47835804	missense	possibly damaging	0.95
R0899:Cfap43	UTSW	19	47747994	missense	possibly damaging	0.93
R1171:Cfap43	UTSW	19	47835711	missense	probably benign	0.03
R1271:Cfap43	UTSW	19	47739744	missense	probably benign	0.22
R1271:Cfap43	UTSW	19	47747948	missense	probably damaging	0.98
R1371:Cfap43	UTSW	19	47835606	missense	possibly damaging	0.95
R1469:Cfap43	UTSW	19	47896875	missense	probably damaging	1.00
R1541:Cfap43	UTSW	19	47763852	splice site	probably null
R1625:Cfap43	UTSW	19	47751088	missense	probably damaging	1.00
R1679:Cfap43	UTSW	19	47773114	missense	probably benign	0.00
R1690:Cfap43	UTSW	19	47751066	critical splice donor site	probably null
R1820:Cfap43	UTSW	19	47897216	missense	probably damaging	0.99
R1891:Cfap43	UTSW	19	47813941	missense	probably damaging	0.97
R1956:Cfap43	UTSW	19	47897210	missense	probably benign	0.19
R1958:Cfap43	UTSW	19	47897210	missense	probably benign	0.19
R2110:Cfap43	UTSW	19	47835758	missense	probably damaging	1.00
R2118:Cfap43	UTSW	19	47770438	missense	probably damaging	1.00
R2290:Cfap43	UTSW	19	47773135	missense	probably damaging	0.99
R3691:Cfap43	UTSW	19	47897073	missense	probably benign	0.01
R3765:Cfap43	UTSW	19	47835575	missense	probably benign	0.01
R3917:Cfap43	UTSW	19	47897750	missense	probably benign	0.00
R3924:Cfap43	UTSW	19	47797116	missense	probably benign	0.00
R3925:Cfap43	UTSW	19	47797116	missense	probably benign	0.00
R3947:Cfap43	UTSW	19	47765979	missense	probably benign	0.28
R4256:Cfap43	UTSW	19	47782405	missense	probably benign	0.06
R4385:Cfap43	UTSW	19	47797129	missense	probably benign	0.28
R4395:Cfap43	UTSW	19	47751913	missense	probably benign	0.00
R4405:Cfap43	UTSW	19	47739797	missense	possibly damaging	0.57
R4541:Cfap43	UTSW	19	47748015	missense	probably benign	0.02
R4583:Cfap43	UTSW	19	47837216	missense	probably null	0.99
R4690:Cfap43	UTSW	19	47747859	missense	probably benign	0.45
R4852:Cfap43	UTSW	19	47897111	missense	possibly damaging	0.87
R5185:Cfap43	UTSW	19	47780394	missense	probably benign	0.00
R5192:Cfap43	UTSW	19	47825925	missense	probably damaging	1.00
R5196:Cfap43	UTSW	19	47825925	missense	probably damaging	1.00
R5197:Cfap43	UTSW	19	47897372	missense	probably damaging	1.00
R5205:Cfap43	UTSW	19	47897548	missense	possibly damaging	0.76
R5425:Cfap43	UTSW	19	47896932	missense	possibly damaging	0.94
R5516:Cfap43	UTSW	19	47738209	splice site	probably null
R5644:Cfap43	UTSW	19	47795675	missense	possibly damaging	0.66
R5844:Cfap43	UTSW	19	47795696	missense	probably benign
R5901:Cfap43	UTSW	19	47897099	missense	probably damaging	0.97
R5910:Cfap43	UTSW	19	47780271	missense	possibly damaging	0.63
R5920:Cfap43	UTSW	19	47760896	missense	possibly damaging	0.88
R5963:Cfap43	UTSW	19	47745574	missense	probably benign	0.42
R6817:Cfap43	UTSW	19	47756085	missense	possibly damaging	0.88
R6974:Cfap43	UTSW	19	47785278	critical splice donor site	probably null
R7219:Cfap43	UTSW	19	47791473	missense	probably benign	0.02
R7270:Cfap43	UTSW	19	47739785	missense	possibly damaging	0.86
R7733:Cfap43	UTSW	19	47897993	missense	possibly damaging	0.75
R7995:Cfap43	UTSW	19	47898023	missense	probably damaging	1.00
R8013:Cfap43	UTSW	19	47773109	missense	probably damaging	0.99
R8176:Cfap43	UTSW	19	47795675	missense	probably benign	0.00
R8242:Cfap43	UTSW	19	47897369	missense	probably damaging	1.00
R8303:Cfap43	UTSW	19	47765835	nonsense	probably null
R8333:Cfap43	UTSW	19	47897326	nonsense	probably null
R8353:Cfap43	UTSW	19	47746647	missense	probably damaging	1.00
R8453:Cfap43	UTSW	19	47746647	missense	probably damaging	1.00
R8474:Cfap43	UTSW	19	47897924	missense	probably benign	0.32
R8478:Cfap43	UTSW	19	47776076	missense	probably benign	0.02
R8676:Cfap43	UTSW	19	47748017	missense	possibly damaging	0.95
R8928:Cfap43	UTSW	19	47815960	missense	probably benign	0.00
R9190:Cfap43	UTSW	19	47737854	missense	possibly damaging	0.65
R9426:Cfap43	UTSW	19	47825798	missense	probably damaging	0.99
R9450:Cfap43	UTSW	19	47897871	missense	probably benign	0.23
R9491:Cfap43	UTSW	19	47812066	critical splice donor site	probably null
R9515:Cfap43	UTSW	19	47785375	missense	probably damaging	1.00
R9732:Cfap43	UTSW	19	47787007	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGCAGGACTTGCTAACAGAGAC -3'
(R):5'- AGCAGGAGAGCCTTGGTTGTTCAC -3'

Sequencing Primer
(F):5'- TGCTAACAGAGACTCAAACTTAAGG -3'
(R):5'- ATTCcccccactcccacc -3'

Posted On

2013-10-16