Mutagenetix > Incidental Mutations

Incidental Mutation 'R7623:Cfap46'

589256

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7623 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139618350 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2054 (E2054G)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000129990
AA Change: E2054G

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: E2054G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	G	T	16: 21,694,342	L22M	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Abca9	T	C	11: 110,107,558	N1468S	probably benign	Het
Abcc5	C	T	16: 20,344,696	D1264N	possibly damaging	Het
Acadvl	G	T	11: 70,010,743	A570E	probably damaging	Het
Adgrb3	T	A	1: 25,547,548	S355C	probably damaging	Het
Adgrv1	A	G	13: 81,422,225	V4953A	possibly damaging	Het
Ano2	T	A	6: 126,015,573	Y836*	probably null	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Ccdc8	T	A	7: 16,996,612	D675E	possibly damaging	Het
Ccnb2	A	G	9: 70,418,888	V58A	probably benign	Het
Cdh24	A	T	14: 54,638,090	Y296N	probably damaging	Het
Cnot1	A	T	8: 95,727,648	F2067I	probably damaging	Het
Csmd3	A	G	15: 47,949,938	F329S		Het
Dact3	C	A	7: 16,885,915	T445K	unknown	Het
Dph6	C	A	2: 114,654,898		probably benign	Het
Dst	T	A	1: 34,170,436	C1195S	probably damaging	Het
Fam102a	A	G	2: 32,566,334	D336G	possibly damaging	Het
Fat3	T	A	9: 15,988,324	N3138Y	probably damaging	Het
Fbxw25	T	C	9: 109,654,583	N187S		Het
Fuca1	A	G	4: 135,933,094	I308V	probably benign	Het
Galnt5	A	G	2: 58,017,210	R562G	probably damaging	Het
Gas8	G	T	8: 123,522,979	R44S	probably damaging	Het
Gja5	T	C	3: 97,050,755	S43P	possibly damaging	Het
Gm14403	A	G	2: 177,508,612	D117G	probably benign	Het
Gmpr2	G	A	14: 55,673,034	V58M	probably damaging	Het
Gtpbp6	T	A	5: 110,105,084	I301F	probably damaging	Het
Hdhd5	T	C	6: 120,521,251	Y129C	probably damaging	Het
Hemgn	A	G	4: 46,396,504	M244T	probably benign	Het
Hist1h2bp	T	A	13: 21,787,592	D26E	probably benign	Het
Iglc1	T	A	16: 19,061,801	H90L		Het
Lamb2	C	T	9: 108,489,224	S1545F	possibly damaging	Het
Mc4r	T	C	18: 66,859,509	T178A	probably benign	Het
Mcam	T	A	9: 44,139,658	S346T	probably benign	Het
Mis18bp1	A	G	12: 65,148,852	S713P	probably benign	Het
Mybl2	A	G	2: 163,072,832	Y290C	probably damaging	Het
Olfr1294	T	C	2: 111,537,936	M118V	probably damaging	Het
Olfr859	A	T	9: 19,808,929	I204F	possibly damaging	Het
Pak6	A	G	2: 118,694,587	T565A	probably damaging	Het
Pde5a	A	G	3: 122,774,601	T284A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Pkd1l2	A	T	8: 117,029,645	F1616Y	probably damaging	Het
Pp2d1	T	C	17: 53,515,879	E53G	probably benign	Het
Ppp3cc	A	C	14: 70,240,945	S269R	probably benign	Het
Ptprb	A	C	10: 116,369,309	D1856A	possibly damaging	Het
Rgs22	A	T	15: 36,040,710	V1001E	probably benign	Het
Rnf8	T	A	17: 29,629,006	V344E	probably benign	Het
Rpn1	T	C	6: 88,084,568	L13P	possibly damaging	Het
Rsbn1	A	T	3: 103,915,010	H187L	probably benign	Het
Sdr16c6	T	A	4: 4,058,801	I262F	not run	Het
Sec22a	A	G	16: 35,329,524	F211L	probably benign	Het
Slc16a4	G	A	3: 107,297,981	A42T	possibly damaging	Het
Smap1	T	A	1: 23,848,295	Q386L	probably benign	Het
Sos1	A	T	17: 80,479,894	F10L	probably benign	Het
Sptbn2	A	G	19: 4,726,168	T202A	probably damaging	Het
Stab1	C	A	14: 31,140,621	V2282L	probably benign	Het
Tmprss11f	C	T	5: 86,524,160	G391D	probably damaging	Het
Tnfaip2	A	G	12: 111,445,638	S158G	probably damaging	Het
Trav6d-5	A	G	14: 52,795,386	T31A	probably benign	Het
Tst	G	A	15: 78,405,703	A44V	probably damaging	Het
Vmn1r210	A	T	13: 22,827,235	F294I	probably benign	Het
Vwc2	T	C	11: 11,116,415	F168L	probably damaging	Het
Wdr25	G	A	12: 108,992,893	G344S	possibly damaging	Het
Zfp605	A	G	5: 110,127,520	Y168C	probably benign	Het
Zfp790	T	A	7: 29,825,705	Y49*	probably null	Het
Zfp93	T	C	7: 24,276,369	F593S	probably damaging	Het
Zfr	C	T	15: 12,160,528	T729I	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
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
R7765:Cfap46	UTSW	7	139651564	missense
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

Predicted Primers

PCR Primer
(F):5'- AAGGTTGTTGCTCAGGGAAG -3'
(R):5'- GAAGGACCCACTGATCCTTACC -3'

Sequencing Primer
(F):5'- CTCAGGGAAGTCTGTATACACTGC -3'
(R):5'- GTGTTTTCCCTGCCAGCCAAG -3'

Posted On

2019-10-24