Mutagenetix > Incidental Mutations

Incidental Mutation 'R4628:Cfap46'

348956

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik

MMRRC Submission

041893-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4628 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139680927 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 85 (L85Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129990] [ENSMUST00000130453] [ENSMUST00000140820]

Predicted Effect

probably damaging
Transcript: ENSMUST00000129990
AA Change: L144Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: L144Q

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 damaging
Transcript: ENSMUST00000130453
AA Change: L85Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115437
Gene: ENSMUSG00000049571
AA Change: L85Q

Domain	Start	End	E-Value	Type
Blast:TPR	116	149	1e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138129

Predicted Effect

probably damaging
Transcript: ENSMUST00000140820
AA Change: L144Q

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

SMART Domains

Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: L144Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156116

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	G	C	5: 118,259,414	A154P	probably damaging	Het
Abca7	G	T	10: 80,015,188		probably null	Het
Abcb4	A	G	5: 8,907,399	D176G	probably benign	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
AF366264	T	A	8: 13,836,625	R489W	probably damaging	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd12	T	C	17: 65,985,994	T815A	probably benign	Het
Arid3a	T	C	10: 79,931,158	S89P	possibly damaging	Het
Ass1	A	T	2: 31,480,988	D63V	probably damaging	Het
Atxn3	T	A	12: 101,923,078		probably benign	Het
Bcap29	C	T	12: 31,626,807	S88N	probably benign	Het
Bsn	G	T	9: 108,113,235	P1773T	probably damaging	Het
Ccdc141	A	G	2: 77,059,680	S423P	probably benign	Het
Chd8	T	C	14: 52,206,915	R438G	probably benign	Het
Chd9	T	A	8: 90,983,463	M289K	probably benign	Het
Col14a1	T	A	15: 55,449,833	Y26*	probably null	Het
Colec10	A	G	15: 54,459,731	T117A	possibly damaging	Het
Colq	C	A	14: 31,544,022	G178V	probably damaging	Het
Defb3	A	T	8: 19,295,140	R37S	probably benign	Het
Duox1	A	G	2: 122,346,252	Y1418C	probably damaging	Het
Engase	C	T	11: 118,484,905	S33F	probably damaging	Het
Erich3	A	T	3: 154,763,687	T1259S	probably damaging	Het
Fam98c	T	C	7: 29,155,268	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,120,129	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,556,128	I86V	probably benign	Het
Gm1123	A	G	9: 99,014,236	V197A	probably damaging	Het
Gm4847	A	T	1: 166,630,395	V463E	probably damaging	Het
Gm9772	T	C	17: 22,007,207	K32R	probably damaging	Het
Gm9804	T	C	12: 49,401,757	S161P	unknown	Het
Gpr162	C	T	6: 124,861,442	D82N	probably benign	Het
Grid2ip	T	C	5: 143,382,875	V650A	probably damaging	Het
Hs1bp3	T	C	12: 8,336,357	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,806,579	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,959,730	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,763,329	Y74H	probably benign	Het
Itga2	A	G	13: 114,877,693	V233A	probably benign	Het
Kat14	A	G	2: 144,404,220		probably benign	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lcmt1	T	A	7: 123,410,812	C183*	probably null	Het
Lcn5	A	G	2: 25,658,063	E28G	possibly damaging	Het
Leo1	A	T	9: 75,445,697	D174V	probably damaging	Het
Llgl1	A	T	11: 60,709,985	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,233,981	C69S	probably damaging	Het
Maml3	A	T	3: 51,796,470		probably benign	Het
Maz	G	T	7: 127,025,347	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,351,548	D167G	probably benign	Het
Mrpl24	A	C	3: 87,922,129		probably null	Het
Myo18a	G	A	11: 77,824,136	V834M	probably damaging	Het
Neb	T	A	2: 52,308,350	R461*	probably null	Het
Notch4	C	A	17: 34,570,185	T486N	probably damaging	Het
Nphp3	A	G	9: 104,003,058	E93G	probably damaging	Het
Nup188	A	G	2: 30,329,346	Y858C	probably damaging	Het
Olfr339	T	A	2: 36,421,857	L153*	probably null	Het
Olfr45	T	A	7: 140,691,378	S158T	probably benign	Het
Olfr61	C	T	7: 140,638,384	R228C	probably benign	Het
Otud4	T	A	8: 79,639,968	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,980,323		probably null	Het
Pdia3	A	T	2: 121,414,139	N11I	possibly damaging	Het
Pex5	T	C	6: 124,403,120	D286G	possibly damaging	Het
Pias3	T	C	3: 96,699,820	I133T	probably damaging	Het
Postn	A	G	3: 54,372,157	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,778,082	R81G	probably benign	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Rtraf	T	A	14: 19,817,087	N116I	probably benign	Het
Slc6a12	T	A	6: 121,351,992	C50*	probably null	Het
Srcin1	T	A	11: 97,548,926	H126L	probably benign	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,355,328	I556F	probably damaging	Het
Vmn1r124	T	A	7: 21,260,377	K81*	probably null	Het
Vmn1r57	T	A	7: 5,220,973	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r68	A	G	7: 85,234,465	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,425,366	M367I	probably benign	Het
Vwa3a	T	A	7: 120,793,375	N812K	probably benign	Het
Wdfy4	A	T	14: 33,102,558	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,403,476	R2898H	probably 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
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
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'- AAGCCCTACCTTGGAAGAGAG -3'
(R):5'- TGCCGATGCAGATTGGTGAG -3'

Sequencing Primer
(F):5'- GAGAGAGGTCTATGTGAATCGTAATC -3'
(R):5'- AGTACCCTAAATGAGGTGCCTGC -3'

Posted On

2015-10-08