Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4449:Cfap46'

511485

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

FR4449 ()

Quality Score

118.032

Status

Not validated

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 139638795 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129990] [ENSMUST00000140820] [ENSMUST00000155075]

AlphaFold

E9Q2C0

Predicted Effect

unknown
Transcript: ENSMUST00000129990
AA Change: K1418E

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: K1418E

Domain	Start	End	E-Value	Type
Blast:TPR	175	207	7e-11	BLAST
Blast:TPR	426	459	1e-11	BLAST
low complexity region	868	879	N/A	INTRINSIC
Blast:TPR	936	969	2e-7	BLAST
Blast:TPR	1112	1145	1e-9	BLAST
coiled coil region	1347	1423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140820

SMART Domains

Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571

Domain	Start	End	E-Value	Type
Blast:TPR	175	208	5e-11	BLAST
Blast:TPR	426	459	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000155075

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.3%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4932415D10Rik	TTCAGT	TT	10: 82,285,469		probably null	Homo
Akap9	GGTATTGCATTTCTTATCT	G	5: 3,981,214		probably benign	Homo
Amfr	C	G	8: 94,005,159	G30R	probably damaging	Homo
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	AATAAAGC	AATAAAGCCGATAAAGC	18: 34,282,000		probably benign	Het
Apc	AGC	AGCCAATAACGC	18: 34,282,005		probably benign	Het
Apol6	TTT	TTTGATT	15: 77,051,443		probably null	Homo
Arid1b	CGG	CGGTGG	17: 4,995,589		probably benign	Het
B430218F22Rik	CGGCG	CGGCGATGGCG	13: 118,386,851		probably benign	Homo
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,908		probably benign	Het
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336		probably benign	Het
Btnl10	AAG	AAGGAG	11: 58,923,928		probably benign	Homo
Cacna1a	ACC	ACCCCC	8: 84,638,714		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,720		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 84,638,723		probably benign	Het
Calhm1	TGGC	TGGCTGTGGCTGCGGC	19: 47,141,274		probably benign	Het
Ccdc15	C	CTTTAT	9: 37,315,158		probably null	Het
Ccdc85c	CCG	CCGACG	12: 108,274,616		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdhr2	AGTC	AGTCGTC	13: 54,725,924		probably benign	Homo
Cdk15	A	ATCTAAAAGG	1: 59,257,823		probably benign	Homo
Cdx1	GCTG	GCTGCTCCTG	18: 61,019,881		probably benign	Het
Cgref1	TTC	TTCGTC	5: 30,933,776		probably benign	Het
Cgref1	CTT	CTTATT	5: 30,933,778		probably null	Homo
Cluh	G	GACTGAA	11: 74,669,532		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593		probably benign	Het
Cpne1	CCTACT	CCT	2: 156,073,502		probably benign	Homo
Cttnbp2	CTGCTG	CTGCTGTTGCTG	6: 18,367,462		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,856		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,674		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dhx8	AGACCG	AGACCGTGACCG	11: 101,738,184		probably benign	Homo
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGAC	11: 101,738,190		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,738,194		probably benign	Homo
Dhx8	CG	CGAGACAG	11: 101,738,206		probably benign	Het
Dhx8	G	GAGACCC	11: 101,738,207		probably benign	Het
Dspp	CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	5: 104,178,388		probably benign	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Erich3	GA	GAGAA	3: 154,763,513		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,074		probably benign	Het
Fgd6	GGAT	G	10: 94,044,320		probably benign	Homo
G530012D18Rik	GAGAGAGAGAGAGAGAGACAGAGA	GAGAGA	1: 85,577,180		probably benign	Homo
Gar1	GCCGCCTCCGCC	GCCGCC	3: 129,830,704		probably benign	Homo
Gatad2b	AGAC	A	3: 90,341,917		probably benign	Het
Gigyf2	C	T	1: 87,428,585		probably benign	Het
Gm16519	A	AGAT	17: 70,929,338		probably benign	Homo
Gm4340	AGC	AGCGGC	10: 104,196,082		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,085		probably benign	Het
Gm4340	GCA	GCATCA	10: 104,196,086		probably benign	Het
Gpatch11	AGGAAG	AGGAAGCGGAAG	17: 78,842,168		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,176		probably benign	Het
Gpatch11	GG	GGCAGACG	17: 78,842,181		probably benign	Het
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Igkv12-89	GCA	GCAGCAGCAACA	6: 68,835,280		probably benign	Homo
Igsf10	G	A	3: 59,319,110	R2381C	probably damaging	Homo
Il17rd	GGC	GGCAGC	14: 27,082,678		probably benign	Het
Ints5	G	A	19: 8,897,230	R851Q	probably benign	Het
Isg20l2	AGA	AGAGGA	3: 87,931,713		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Kifc5b	A	C	17: 26,924,217	E321A	probably benign	Het
Klra2	TCCACAG	TCCACAGAAACCCACAG	6: 131,221,846		probably null	Homo
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,361		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,369		probably benign	Het
Krt10	ACC	ACCACCTCC	11: 99,389,267		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCGC	3: 93,018,152		probably benign	Het
Leo1	GTACCATGCA	G	9: 75,450,573		probably benign	Het
Lkaaear1	CA	CATCTCCAGCTCTA	2: 181,697,571		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,621,456		probably benign	Homo
Med12l	CAG	CAGTAG	3: 59,275,963		probably null	Het
Mgat4e	GTCGTAGTCATCGT	GTCGT	1: 134,540,997		probably benign	Homo
Mn1	GCA	GCAACA	5: 111,419,710		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCTGGCAGTGAG	19: 42,076,109		probably benign	Het
Nat8f2	T	A	6: 85,867,686	L231F	possibly damaging	Homo
Noc2l	C	CTGA	4: 156,240,101		probably benign	Het
Nrg3	T	TAGACAC	14: 38,397,271		probably benign	Het
Olfr890	A	G	9: 38,143,188	I13V	probably benign	Homo
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pih1d2	CTCTTGCGAGGATC	CTC	9: 50,621,627		probably null	Homo
Pik3ap1	G	GGAA	19: 41,281,946		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Ptms	TTC	TTCGTC	6: 124,914,459		probably benign	Het
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Qrich2	AACT	A	11: 116,456,199		probably benign	Homo
Raet1d	A	ATATCCTCTCTGG	10: 22,370,915		probably benign	Het
Rbm33	AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA	AGCAGCAGCAGCA	5: 28,394,168		probably benign	Homo
Rrbp1	TGCTTCTCAAAGGTGGCTGCCTTGGCTTC	TGCTTC	2: 143,967,456		probably null	Het
Sbp	CAACAAAGATGCTGA	CAACAAAGATGCTGAGAACAAAGATGCTGA	17: 23,945,364		probably benign	Het
Setd1a	G	A	7: 127,785,326		probably benign	Het
Sfswap	CCCACTCAG	CCCACTCAGTCCACTCAG	5: 129,569,748		probably benign	Het
Sfswap	CCACTCAGC	CCACTCAGCTCACTCAGC	5: 129,569,749		probably benign	Het
Sh3pxd2b	T	TGTCTGC	11: 32,423,065		probably benign	Homo
Six3	CGG	CGGGGG	17: 85,621,362		probably benign	Het
Slc12a1	C	CTTTGGCCACAACACG	2: 125,154,216		probably benign	Homo
Slc26a8	CTCTCTG	C	17: 28,638,316		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Sry	TGCTG	TGCTGCTG	Y: 2,662,832		probably benign	Homo
Ston1	G	A	17: 88,635,525	V120M	probably benign	Homo
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,649		probably benign	Het
Tbl3	TG	TGTGG	17: 24,702,544		probably benign	Homo
Tctn3	AG	AGAAGCCG	19: 40,607,202		probably benign	Het
Tesk1	CCC	CCCACC	4: 43,447,002		probably benign	Homo
Tmc2	T	G	2: 130,240,196	V433G	probably damaging	Het
Tmprss13	G	A	9: 45,328,558	A55T	unknown	Het
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839		probably null	Homo
Tob1	CAG	CAGAAG	11: 94,214,468		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,475		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782		probably benign	Homo
Triobp	GTC	GTCTTC	15: 78,993,389		probably benign	Het
Ubtf	CCT	CCTACT	11: 102,306,948		probably null	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Xpnpep3	G	C	15: 81,427,422	D110H	possibly damaging	Het
Zc3h13	CGAGATGTG	CGAGATGTGTGAGATGTG	14: 75,323,601		probably null	Homo
Zfhx3	GCAACAGCA	GCAACAGCAACAACAGCA	8: 108,956,094		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp335	CTC	CTCATC	2: 164,907,477		probably benign	Het
Zfp335	CTCT	CTCTTCT	2: 164,907,483		probably benign	Het
Zfp598	ACCACC	ACCACCTCCACC	17: 24,680,776		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,785		probably benign	Het
Zfp831	TCC	TCCACC	2: 174,645,471		probably benign	Het
Zfp831	CTC	CTCGTC	2: 174,645,482		probably benign	Het
Zfp978	G	T	4: 147,390,944	S316I	probably benign	Het

Other mutations in Cfap46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL00493:Cfap46	APN	7	139614443	missense	probably benign	0.06
IGL00505:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL00508:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL00514:Cfap46	APN	7	139660689	missense	probably damaging	0.96
IGL01394:Cfap46	APN	7	139666979	missense	probably damaging	1.00
IGL01621:Cfap46	APN	7	139606607	missense	unknown
IGL02171:Cfap46	APN	7	139667056	missense	possibly damaging	0.86
IGL02343:Cfap46	APN	7	139682509	missense	probably damaging	0.99
IGL02679:Cfap46	APN	7	139614470	missense	probably damaging	0.99
IGL02687:Cfap46	APN	7	139607201	missense	probably damaging	0.99
IGL03180:Cfap46	APN	7	139603252	missense	unknown
IGL03329:Cfap46	APN	7	139601165	missense	probably damaging	0.99
FR4737:Cfap46	UTSW	7	139638930	utr 3 prime	probably benign
FR4976:Cfap46	UTSW	7	139638930	utr 3 prime	probably benign
PIT4651001:Cfap46	UTSW	7	139645551	missense
R0051:Cfap46	UTSW	7	139676035	missense	probably damaging	1.00
R0051:Cfap46	UTSW	7	139676035	missense	probably damaging	1.00
R0318:Cfap46	UTSW	7	139654566	missense	probably damaging	1.00
R0358:Cfap46	UTSW	7	139651533	splice site	probably benign
R0650:Cfap46	UTSW	7	139605655	missense	unknown
R0675:Cfap46	UTSW	7	139676034	missense	probably damaging	1.00
R0750:Cfap46	UTSW	7	139654670	missense	probably damaging	1.00
R0931:Cfap46	UTSW	7	139655841	missense	probably damaging	1.00
R1024:Cfap46	UTSW	7	139642597	missense	probably benign	0.42
R1251:Cfap46	UTSW	7	139601265	missense	probably benign	0.40
R1257:Cfap46	UTSW	7	139654629	nonsense	probably null
R1538:Cfap46	UTSW	7	139683008	missense	probably null	1.00
R1618:Cfap46	UTSW	7	139652810	missense	probably benign	0.04
R1655:Cfap46	UTSW	7	139642520	nonsense	probably null
R1824:Cfap46	UTSW	7	139639602	missense	probably benign	0.12
R1830:Cfap46	UTSW	7	139640407	missense	possibly damaging	0.92
R1857:Cfap46	UTSW	7	139653408	missense	probably damaging	1.00
R1870:Cfap46	UTSW	7	139683470	missense	probably damaging	1.00
R1945:Cfap46	UTSW	7	139679903	missense	probably damaging	1.00
R1962:Cfap46	UTSW	7	139667041	missense	probably damaging	1.00
R2108:Cfap46	UTSW	7	139683761	missense	probably benign	0.03
R2354:Cfap46	UTSW	7	139661046	missense	probably damaging	0.99
R2367:Cfap46	UTSW	7	139653498	missense	probably damaging	0.99
R3237:Cfap46	UTSW	7	139617590	missense	probably damaging	1.00
R3617:Cfap46	UTSW	7	139639599	missense	probably benign	0.06
R3949:Cfap46	UTSW	7	139678551	missense	probably benign	0.12
R4239:Cfap46	UTSW	7	139666287	missense	possibly damaging	0.74
R4240:Cfap46	UTSW	7	139666287	missense	possibly damaging	0.74
R4297:Cfap46	UTSW	7	139652673	missense	probably benign	0.27
R4365:Cfap46	UTSW	7	139650952	missense	probably damaging	0.99
R4516:Cfap46	UTSW	7	139660082	intron	probably benign
R4595:Cfap46	UTSW	7	139652404	missense	possibly damaging	0.74
R4627:Cfap46	UTSW	7	139657281	missense	probably damaging	0.99
R4627:Cfap46	UTSW	7	139680927	missense	probably damaging	1.00
R4628:Cfap46	UTSW	7	139680927	missense	probably damaging	1.00
R4629:Cfap46	UTSW	7	139680927	missense	probably damaging	1.00
R4687:Cfap46	UTSW	7	139627456	missense	possibly damaging	0.79
R4750:Cfap46	UTSW	7	139679323	critical splice donor site	probably null
R4771:Cfap46	UTSW	7	139630608	missense	probably null
R4779:Cfap46	UTSW	7	139659815	intron	probably benign
R4812:Cfap46	UTSW	7	139636000	missense	probably damaging	1.00
R4974:Cfap46	UTSW	7	139607188	critical splice donor site	probably null
R5014:Cfap46	UTSW	7	139627375	missense	probably benign	0.12
R5033:Cfap46	UTSW	7	139603860	missense	probably benign	0.00
R5055:Cfap46	UTSW	7	139661190	missense	probably damaging	1.00
R5254:Cfap46	UTSW	7	139678514	missense	possibly damaging	0.77
R5288:Cfap46	UTSW	7	139613507	critical splice donor site	probably null
R5366:Cfap46	UTSW	7	139650886	missense	probably damaging	1.00
R5368:Cfap46	UTSW	7	139627473	missense	possibly damaging	0.77
R5371:Cfap46	UTSW	7	139632181	splice site	probably null
R5642:Cfap46	UTSW	7	139678577	missense	probably damaging	1.00
R5690:Cfap46	UTSW	7	139638353	missense	probably benign	0.01
R5691:Cfap46	UTSW	7	139606700	missense	possibly damaging	0.49
R5696:Cfap46	UTSW	7	139612031	missense	probably damaging	1.00
R5844:Cfap46	UTSW	7	139650942	missense	probably damaging	0.99
R5963:Cfap46	UTSW	7	139651595	missense	probably damaging	0.97
R6217:Cfap46	UTSW	7	139638900	utr 3 prime	probably benign
R6228:Cfap46	UTSW	7	139656580	missense	probably damaging	1.00
R6251:Cfap46	UTSW	7	139638900	utr 3 prime	probably benign
R6253:Cfap46	UTSW	7	139638900	utr 3 prime	probably benign
R6285:Cfap46	UTSW	7	139661085	missense	probably damaging	1.00
R6334:Cfap46	UTSW	7	139680831	missense	probably damaging	1.00
R6520:Cfap46	UTSW	7	139614405	critical splice donor site	probably null
R6736:Cfap46	UTSW	7	139619971	missense	possibly damaging	0.92
R6760:Cfap46	UTSW	7	139652440	missense	probably damaging	1.00
R6773:Cfap46	UTSW	7	139642561	utr 3 prime	probably benign
R6835:Cfap46	UTSW	7	139652498	missense	probably damaging	0.98
R6903:Cfap46	UTSW	7	139654561	critical splice donor site	probably null
R6912:Cfap46	UTSW	7	139639700	missense	probably benign	0.09
R7163:Cfap46	UTSW	7	139618078	critical splice donor site	probably null
R7232:Cfap46	UTSW	7	139617577	missense	unknown
R7327:Cfap46	UTSW	7	139635146	splice site	probably null
R7336:Cfap46	UTSW	7	139620104	missense	unknown
R7337:Cfap46	UTSW	7	139630576	critical splice donor site	probably null
R7437:Cfap46	UTSW	7	139650837	nonsense	probably null
R7450:Cfap46	UTSW	7	139617437	missense	unknown
R7495:Cfap46	UTSW	7	139603196	critical splice donor site	probably null
R7618:Cfap46	UTSW	7	139603239	missense
R7623:Cfap46	UTSW	7	139618350	missense	unknown
R7765:Cfap46	UTSW	7	139651564	missense
R7971:Cfap46	UTSW	7	139635127	missense	unknown
R8211:Cfap46	UTSW	7	139633304	missense	unknown
R8306:Cfap46	UTSW	7	139656580	missense
R8354:Cfap46	UTSW	7	139653498	missense	probably benign	0.03
R8365:Cfap46	UTSW	7	139683084	nonsense	probably null
R8447:Cfap46	UTSW	7	139680986	missense	possibly damaging	0.90
R8715:Cfap46	UTSW	7	139605644	missense
R8805:Cfap46	UTSW	7	139632063	missense	unknown
R8830:Cfap46	UTSW	7	139615649	missense	unknown
R8912:Cfap46	UTSW	7	139680181	intron	probably benign
R8920:Cfap46	UTSW	7	139652526	missense
R8977:Cfap46	UTSW	7	139679933	missense	probably benign	0.01
R9048:Cfap46	UTSW	7	139627343	missense	unknown
R9224:Cfap46	UTSW	7	139678500	nonsense	probably null
R9243:Cfap46	UTSW	7	139615349	intron	probably benign
R9252:Cfap46	UTSW	7	139618249	missense	unknown
R9276:Cfap46	UTSW	7	139621291	missense	unknown
R9301:Cfap46	UTSW	7	139642545	missense
R9391:Cfap46	UTSW	7	139618111	missense	unknown
R9402:Cfap46	UTSW	7	139635949	missense	unknown
R9443:Cfap46	UTSW	7	139615107	missense
R9564:Cfap46	UTSW	7	139651555	missense
R9625:Cfap46	UTSW	7	139650889	missense
R9626:Cfap46	UTSW	7	139650889	missense
R9638:Cfap46	UTSW	7	139629847	missense	unknown
R9656:Cfap46	UTSW	7	139655900	missense
R9658:Cfap46	UTSW	7	139666313	missense
R9747:Cfap46	UTSW	7	139611991	missense	unknown
RF023:Cfap46	UTSW	7	139638918
W0251:Cfap46	UTSW	7	139603946	missense	probably benign	0.11
X0018:Cfap46	UTSW	7	139680912	missense	probably benign	0.03
X0064:Cfap46	UTSW	7	139603447	missense	probably benign	0.01
Z1088:Cfap46	UTSW	7	139635064	missense	probably damaging	0.96
Z1176:Cfap46	UTSW	7	139639548	missense
Z1177:Cfap46	UTSW	7	139601267	missense	unknown
Z1177:Cfap46	UTSW	7	139630626	missense	unknown

Predicted Primers

Posted On

2018-04-05