Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Cfap46'

672003

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139632063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1669 (A1669T)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

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

AlphaFold

E9Q2C0

Predicted Effect

unknown
Transcript: ENSMUST00000129990
AA Change: A1669T

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: A1669T

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: 99.3%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,007,905	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,471,365		probably benign	Het
Actl6b	G	A	5: 137,554,656	M82I	probably benign	Het
Bmp2	T	A	2: 133,561,334	D268E	probably damaging	Het
C530008M17Rik	T	C	5: 76,858,642	V950A	unknown	Het
Cacng7	T	A	7: 3,366,782	L221H	probably damaging	Het
Ccser2	A	G	14: 36,879,755	V224A	probably damaging	Het
Cdc40	A	G	10: 40,857,580	F125L	probably damaging	Het
Cfap58	A	T	19: 47,953,096	E301V	probably damaging	Het
Clcn2	C	A	16: 20,713,418	G96C	probably damaging	Het
Cotl1	T	A	8: 119,810,205		probably benign	Het
Cps1	G	A	1: 67,176,951	A812T	probably damaging	Het
Crnkl1	T	C	2: 145,931,430		probably null	Het
Cry1	A	G	10: 85,157,105	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,841,105	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,361,203	F425L	probably damaging	Het
Dek	A	T	13: 47,099,454	N158K	unknown	Het
Dgcr8	T	A	16: 18,258,297	Q674L	probably damaging	Het
Dlec1	C	A	9: 119,112,582	S345R	probably benign	Het
Dnah7b	T	A	1: 46,234,145	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,434,225	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,954,920	L186M		Het
Fn1	T	C	1: 71,605,080	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,983,109	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,773,735	V238A	probably damaging	Het
Gm9611	T	C	14: 42,294,700	D131G		Het
Gpatch8	T	C	11: 102,480,192	E840G	unknown	Het
Grm5	G	A	7: 87,803,968	R271Q	probably damaging	Het
Has3	A	T	8: 106,874,503	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Il2	T	A	3: 37,123,133	T85S	possibly damaging	Het
Kank4	T	C	4: 98,780,036	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,928,011	I154F	probably damaging	Het
Krt2	T	C	15: 101,815,944	K295R	possibly damaging	Het
Lipm	A	T	19: 34,112,908	D163V	probably damaging	Het
Lpl	A	G	8: 68,887,563	N70S	probably damaging	Het
Mgme1	A	G	2: 144,272,531		probably benign	Het
Mnd1	T	A	3: 84,088,125	E187D	probably benign	Het
Morn5	A	G	2: 36,079,521	D149G	probably benign	Het
Mrrf	G	A	2: 36,147,953	V79I	probably damaging	Het
Msh4	T	A	3: 153,857,633	Q896L	probably benign	Het
Mtus2	A	C	5: 148,078,493	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,910,087	C130S	unknown	Het
Ntn5	A	T	7: 45,684,475	Y4F	probably benign	Het
Olfr868	T	C	9: 20,101,284	V175A	probably benign	Het
Osm	A	G	11: 4,239,839	S208G	probably benign	Het
Pcsk6	T	A	7: 65,929,143	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,257,033	E486G	probably benign	Het
Pdzk1	T	A	3: 96,851,594	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,388,372	S524T	probably benign	Het
Prkd1	T	A	12: 50,388,373	S524C	probably damaging	Het
Rab4b	T	C	7: 27,174,723	I90V		Het
Rc3h1	T	C	1: 160,967,652	V1083A	probably benign	Het
Rfx7	C	T	9: 72,617,034	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,872,214	Y332C	probably damaging	Het
Senp2	A	G	16: 22,028,039	T265A	probably benign	Het
Slc38a3	T	C	9: 107,655,146	M396V	probably benign	Het
Sord	G	A	2: 122,264,126	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,437,346		probably benign	Het
Star	G	A	8: 25,809,549	R53H	probably benign	Het
Stard4	T	G	18: 33,203,696	I189L	possibly damaging	Het
Stk38	G	T	17: 29,000,120	T7K	probably benign	Het
Stxbp5	T	A	10: 9,838,115	K227*	probably null	Het
Taf4b	C	T	18: 14,813,428	P436L	possibly damaging	Het
Tgm3	T	A	2: 130,047,782	V632E	probably damaging	Het
Tmem158	A	G	9: 123,260,244	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281	S77P	probably benign	Het
Ttn	A	T	2: 76,889,963	L6973*	probably null	Het
Tubal3	T	C	13: 3,933,293	F358L	probably damaging	Het
Vmn1r214	C	T	13: 23,035,103	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,446,527	V740A	probably benign	Het
Yipf1	A	T	4: 107,336,158	E80D	probably benign	Het
Zcchc11	T	C	4: 108,549,378	V1381A	possibly damaging	Het
Zdhhc2	G	T	8: 40,445,805		probably null	Het
Zfp655	C	T	5: 145,244,480	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,537,953	T445I	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
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
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

PCR Primer
(F):5'- ACTCGTCTTTTAGGGGAACTCAG -3'
(R):5'- TCATAAGTTAGACAGTCAGGGGC -3'

Sequencing Primer
(F):5'- CTTTTAGGGGAACTCAGTGGAGACC -3'
(R):5'- ACATCCCTGTGGCCATGAG -3'

Posted On

2021-04-30