Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Cfap46'

412167

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139603252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 2584 (L2584F)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

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

AlphaFold

E9Q2C0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093991

SMART Domains

Protein: ENSMUSP00000091527
Gene: ENSMUSG00000070357

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C50	21	290	9.9e-7	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000129990
AA Change: L2584F

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: L2584F

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

noncoding transcript
Transcript: ENSMUST00000166503

SMART Domains

Protein: ENSMUSP00000126077
Gene: ENSMUSG00000070357

Domain	Start	End	E-Value	Type
low complexity region	31	50	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000196540
AA Change: T155I

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,175,635	Y321H	probably benign	Het
Adam28	T	A	14: 68,637,434	I265L	probably damaging	Het
Adcy8	T	C	15: 64,783,950	D560G	possibly damaging	Het
Aff3	A	G	1: 38,535,662	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,775,330		probably null	Het
Aspn	C	T	13: 49,563,515	R256W	probably damaging	Het
Birc6	T	C	17: 74,659,231	V4051A	probably benign	Het
Chdh	T	A	14: 30,034,602		probably null	Het
Clasp1	A	G	1: 118,505,525	T245A	probably benign	Het
Clec4a1	G	A	6: 122,924,818	V70I	probably benign	Het
Cpt2	A	T	4: 107,906,960	S536T	probably damaging	Het
Dnah9	A	T	11: 65,886,639	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,029,551	F38Y	probably benign	Het
Eif4ebp2	T	C	10: 61,433,810	E117G	probably damaging	Het
Eif5b	T	C	1: 38,036,269	I609T	probably damaging	Het
Esam	G	A	9: 37,534,570	G135S	probably damaging	Het
Fut7	C	A	2: 25,425,453	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,853,329	K706M	probably damaging	Het
Grip2	A	G	6: 91,785,761		probably benign	Het
Gtf2ird2	A	G	5: 134,191,248	T22A	probably damaging	Het
Hadh	T	C	3: 131,271,884	I42V	probably benign	Het
Iqsec3	T	A	6: 121,413,508		probably benign	Het
Izumo3	G	A	4: 92,146,287		probably benign	Het
Ldlrad1	G	T	4: 107,217,835	C193F	probably damaging	Het
Lgals4	G	A	7: 28,837,628	G118R	probably damaging	Het
Map4k1	A	C	7: 28,988,085	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,386,912	P346Q	possibly damaging	Het
Mkl2	A	G	16: 13,398,332	K303E	probably damaging	Het
Nlrp14	T	A	7: 107,182,626	H343Q	probably benign	Het
Ogg1	T	G	6: 113,333,494		probably null	Het
Olfr1023	A	T	2: 85,887,396	M199L	probably benign	Het
Olfr361	C	T	2: 37,085,710	V13M	possibly damaging	Het
Pafah1b1	A	T	11: 74,683,518	C281S	possibly damaging	Het
Papss1	C	T	3: 131,607,382	R386W	probably damaging	Het
Pex5	A	G	6: 124,413,563		probably benign	Het
Pibf1	C	A	14: 99,133,344	Q261K	probably benign	Het
Plcb3	T	C	19: 6,956,153	S935G	probably benign	Het
Polg	A	G	7: 79,451,853		probably benign	Het
Ptpdc1	G	A	13: 48,586,077	T626I	probably damaging	Het
Rab34	A	T	11: 78,190,318	Y87F	probably damaging	Het
Rsrc1	T	G	3: 67,082,543		probably benign	Het
Ryr2	T	C	13: 11,568,563	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,676,234	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,085,742	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,436,285	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,868,575		probably null	Het
Sla	A	G	15: 66,789,720	I121T	probably benign	Het
Son	T	C	16: 91,657,008	L881S	probably damaging	Het
Srms	A	G	2: 181,212,780		probably benign	Het
Stoml1	T	C	9: 58,260,917	S304P	probably damaging	Het
Stt3a	T	C	9: 36,759,256	D73G	probably damaging	Het
Tmem206	G	T	1: 191,338,892	V82F	probably damaging	Het
Tpp1	T	C	7: 105,746,649	T558A	probably benign	Het
Trp53i13	T	C	11: 77,512,702		probably benign	Het
Vmn2r77	A	G	7: 86,801,635	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,765	D261G	probably damaging	Het
Wdr60	T	C	12: 116,218,865	S706G	probably benign	Het
Zfpm2	A	G	15: 41,101,394	K293R	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
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
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

Posted On

2016-08-02