Mutagenetix > Incidental Mutations

Incidental Mutation 'R5055:Cfap46'

390779

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik

MMRRC Submission

042645-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139661190 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 421 (M421K)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118750

Predicted Effect

probably damaging
Transcript: ENSMUST00000129990
AA Change: M421K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: M421K

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

possibly damaging
Transcript: ENSMUST00000140820
AA Change: M421K

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: M421K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156116

Meta Mutation Damage Score

0.2242

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (84/86)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	G	A	11: 46,123,169	V329I	probably damaging	Het
Adgrl3	C	A	5: 81,646,551	A541E	possibly damaging	Het
Agbl1	A	T	7: 76,413,577	I263F	probably damaging	Het
Ash1l	T	C	3: 89,023,212		probably null	Het
BC051142	G	A	17: 34,448,796	C154Y	possibly damaging	Het
Bccip	A	G	7: 133,714,923	T91A	probably benign	Het
Bnc1	A	T	7: 81,974,415	F355I	probably damaging	Het
Bpifa2	A	T	2: 154,013,710	D185V	probably damaging	Het
Capn8	T	A	1: 182,571,961	V89D	probably damaging	Het
Chd2	A	T	7: 73,480,508	L800M	probably damaging	Het
Chd4	A	G	6: 125,100,986	D137G	possibly damaging	Het
Crtap	A	G	9: 114,390,140	Y154H	probably benign	Het
Ctdp1	T	A	18: 80,456,088	Q213L	probably damaging	Het
Cts6	T	C	13: 61,196,350	Y296C	probably damaging	Het
Daxx	G	T	17: 33,912,160	V354F	probably benign	Het
Dnah2	A	G	11: 69,520,773	I341T	possibly damaging	Het
Epha2	A	G	4: 141,309,069	D272G	probably benign	Het
Etfa	A	G	9: 55,500,133	V24A	probably damaging	Het
Fbxl7	C	A	15: 26,552,936	G82W	probably damaging	Het
Fcamr	G	A	1: 130,811,437	C158Y	probably damaging	Het
Fyb	A	C	15: 6,585,149		probably benign	Het
Gars	G	A	6: 55,068,092	R454H	probably damaging	Het
Ghsr	T	C	3: 27,372,272	V159A	probably benign	Het
Glp1r	A	T	17: 30,918,887	Q97H	probably benign	Het
Gm27047	T	C	6: 130,629,946		noncoding transcript	Het
Igkv3-3	A	C	6: 70,687,239	I22L	probably benign	Het
Inpp5b	G	T	4: 124,743,031		probably null	Het
Ipo9	C	A	1: 135,402,359	E448*	probably null	Het
Itgb2l	A	T	16: 96,427,803	I400N	probably damaging	Het
Kat6b	T	A	14: 21,516,994	H40Q	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcnq2	G	T	2: 181,086,761		probably benign	Het
Klf7	T	C	1: 64,079,280	T53A	probably benign	Het
Kmt2a	A	G	9: 44,818,352		probably benign	Het
Lrp10	C	T	14: 54,468,345	R331C	probably benign	Het
Map4k5	A	T	12: 69,831,558	D289E	probably benign	Het
Mfsd4b2	A	T	10: 39,923,777	M43K	possibly damaging	Het
Msr1	T	G	8: 39,623,956	R138S	possibly damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Myh9	G	A	15: 77,764,523	A1711V	probably benign	Het
Myo18b	A	G	5: 112,875,217		probably benign	Het
Nampt	A	T	12: 32,833,121	N102Y	possibly damaging	Het
Nell2	T	C	15: 95,473,579	I92V	probably benign	Het
Nes	A	G	3: 87,977,214	N883D	probably benign	Het
Neurl3	T	A	1: 36,273,382		probably benign	Het
Ocln	T	A	13: 100,539,422	T188S	probably benign	Het
Olfr1023	T	C	2: 85,887,241	F147S	probably benign	Het
Olfr704	T	A	7: 106,865,730	M250K	probably damaging	Het
Parp14	T	A	16: 35,844,363	Q1305L	probably benign	Het
Pde3a	C	T	6: 141,487,956	Q855*	probably null	Het
Pde4b	T	C	4: 102,195,114		probably benign	Het
Pdk2	T	C	11: 95,039,416	M65V	probably benign	Het
Phf21a	T	C	2: 92,351,856	S377P	probably damaging	Het
Plcb2	T	A	2: 118,718,222	T408S	probably benign	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ppp6r2	A	G	15: 89,282,949	D789G	probably benign	Het
Prdm16	T	C	4: 154,335,262	M897V	possibly damaging	Het
Prss57	A	G	10: 79,784,344		probably null	Het
Psd	G	T	19: 46,322,468	L381I	probably benign	Het
Ptprq	A	T	10: 107,534,679	D2050E	probably benign	Het
Rfc1	G	T	5: 65,266,162	N1034K	probably damaging	Het
Ryr3	C	T	2: 112,831,159	G1829S	probably benign	Het
Scaper	T	C	9: 55,859,719		probably null	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Slc28a1	A	G	7: 81,169,048	N583S	possibly damaging	Het
Slc35e3	C	T	10: 117,744,979	G140D	probably damaging	Het
Slc6a9	G	A	4: 117,868,150		probably null	Het
Sptlc1	A	G	13: 53,342,182	S376P	probably benign	Het
Sspo	G	A	6: 48,464,795	C1913Y	probably damaging	Het
Taar7b	A	T	10: 24,000,947	I337F	possibly damaging	Het
Tdpoz2	T	A	3: 93,651,928	I246F	probably damaging	Het
Trpa1	C	T	1: 14,875,959	V983M	probably damaging	Het
Trpm5	A	T	7: 143,072,784	M1112K	probably benign	Het
Uso1	A	T	5: 92,192,735	K670I	probably benign	Het
Washc4	A	G	10: 83,556,907	D257G	probably damaging	Het
Wdr41	T	A	13: 95,015,217		probably null	Het
Zbtb17	A	G	4: 141,466,549	Q668R	possibly damaging	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
FR4449:Cfap46	UTSW	7	139638795	utr 3 prime	probably benign
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
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
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

PCR Primer
(F):5'- ACAGCATGGTACCCAACTGC -3'
(R):5'- CGTGAACCCTTTTCTGTCGG -3'

Sequencing Primer
(F):5'- ATGGTACCCAACTGCAGCCG -3'
(R):5'- ATTTCCAGGGGTCTGTAGCAACC -3'

Posted On

2016-06-06