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, Ttc40

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

139180867-139263733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139183168 bp (GRCm39)

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: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	probably damaging	Het

Other mutations in Cfap46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL00493:Cfap46	APN	7	139,194,359 (GRCm39)	missense	probably benign	0.06
IGL00505:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL00508:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL00514:Cfap46	APN	7	139,240,605 (GRCm39)	missense	probably damaging	0.96
IGL01394:Cfap46	APN	7	139,246,895 (GRCm39)	missense	probably damaging	1.00
IGL01621:Cfap46	APN	7	139,186,523 (GRCm39)	missense	unknown
IGL02171:Cfap46	APN	7	139,246,972 (GRCm39)	missense	possibly damaging	0.86
IGL02343:Cfap46	APN	7	139,262,425 (GRCm39)	missense	probably damaging	0.99
IGL02679:Cfap46	APN	7	139,194,386 (GRCm39)	missense	probably damaging	0.99
IGL02687:Cfap46	APN	7	139,187,117 (GRCm39)	missense	probably damaging	0.99
IGL03329:Cfap46	APN	7	139,181,081 (GRCm39)	missense	probably damaging	0.99
FR4449:Cfap46	UTSW	7	139,218,711 (GRCm39)	utr 3 prime	probably benign
FR4737:Cfap46	UTSW	7	139,218,846 (GRCm39)	utr 3 prime	probably benign
FR4976:Cfap46	UTSW	7	139,218,846 (GRCm39)	utr 3 prime	probably benign
PIT4651001:Cfap46	UTSW	7	139,225,467 (GRCm39)	missense
R0051:Cfap46	UTSW	7	139,255,951 (GRCm39)	missense	probably damaging	1.00
R0051:Cfap46	UTSW	7	139,255,951 (GRCm39)	missense	probably damaging	1.00
R0318:Cfap46	UTSW	7	139,234,482 (GRCm39)	missense	probably damaging	1.00
R0358:Cfap46	UTSW	7	139,231,449 (GRCm39)	splice site	probably benign
R0650:Cfap46	UTSW	7	139,185,571 (GRCm39)	missense	unknown
R0675:Cfap46	UTSW	7	139,255,950 (GRCm39)	missense	probably damaging	1.00
R0750:Cfap46	UTSW	7	139,234,586 (GRCm39)	missense	probably damaging	1.00
R0931:Cfap46	UTSW	7	139,235,757 (GRCm39)	missense	probably damaging	1.00
R1024:Cfap46	UTSW	7	139,222,513 (GRCm39)	missense	probably benign	0.42
R1251:Cfap46	UTSW	7	139,181,181 (GRCm39)	missense	probably benign	0.40
R1257:Cfap46	UTSW	7	139,234,545 (GRCm39)	nonsense	probably null
R1538:Cfap46	UTSW	7	139,262,924 (GRCm39)	missense	probably null	1.00
R1618:Cfap46	UTSW	7	139,232,726 (GRCm39)	missense	probably benign	0.04
R1655:Cfap46	UTSW	7	139,222,436 (GRCm39)	nonsense	probably null
R1824:Cfap46	UTSW	7	139,219,518 (GRCm39)	missense	probably benign	0.12
R1830:Cfap46	UTSW	7	139,220,323 (GRCm39)	missense	possibly damaging	0.92
R1857:Cfap46	UTSW	7	139,233,324 (GRCm39)	missense	probably damaging	1.00
R1870:Cfap46	UTSW	7	139,263,386 (GRCm39)	missense	probably damaging	1.00
R1945:Cfap46	UTSW	7	139,259,819 (GRCm39)	missense	probably damaging	1.00
R1962:Cfap46	UTSW	7	139,246,957 (GRCm39)	missense	probably damaging	1.00
R2108:Cfap46	UTSW	7	139,263,677 (GRCm39)	missense	probably benign	0.03
R2354:Cfap46	UTSW	7	139,240,962 (GRCm39)	missense	probably damaging	0.99
R2367:Cfap46	UTSW	7	139,233,414 (GRCm39)	missense	probably damaging	0.99
R3237:Cfap46	UTSW	7	139,197,506 (GRCm39)	missense	probably damaging	1.00
R3617:Cfap46	UTSW	7	139,219,515 (GRCm39)	missense	probably benign	0.06
R3949:Cfap46	UTSW	7	139,258,467 (GRCm39)	missense	probably benign	0.12
R4239:Cfap46	UTSW	7	139,246,203 (GRCm39)	missense	possibly damaging	0.74
R4240:Cfap46	UTSW	7	139,246,203 (GRCm39)	missense	possibly damaging	0.74
R4297:Cfap46	UTSW	7	139,232,589 (GRCm39)	missense	probably benign	0.27
R4365:Cfap46	UTSW	7	139,230,868 (GRCm39)	missense	probably damaging	0.99
R4516:Cfap46	UTSW	7	139,239,998 (GRCm39)	intron	probably benign
R4595:Cfap46	UTSW	7	139,232,320 (GRCm39)	missense	possibly damaging	0.74
R4627:Cfap46	UTSW	7	139,260,843 (GRCm39)	missense	probably damaging	1.00
R4627:Cfap46	UTSW	7	139,237,197 (GRCm39)	missense	probably damaging	0.99
R4628:Cfap46	UTSW	7	139,260,843 (GRCm39)	missense	probably damaging	1.00
R4629:Cfap46	UTSW	7	139,260,843 (GRCm39)	missense	probably damaging	1.00
R4687:Cfap46	UTSW	7	139,207,372 (GRCm39)	missense	possibly damaging	0.79
R4750:Cfap46	UTSW	7	139,259,239 (GRCm39)	critical splice donor site	probably null
R4771:Cfap46	UTSW	7	139,210,524 (GRCm39)	missense	probably null
R4779:Cfap46	UTSW	7	139,239,731 (GRCm39)	intron	probably benign
R4812:Cfap46	UTSW	7	139,215,916 (GRCm39)	missense	probably damaging	1.00
R4974:Cfap46	UTSW	7	139,187,104 (GRCm39)	critical splice donor site	probably null
R5014:Cfap46	UTSW	7	139,207,291 (GRCm39)	missense	probably benign	0.12
R5033:Cfap46	UTSW	7	139,183,776 (GRCm39)	missense	probably benign	0.00
R5055:Cfap46	UTSW	7	139,241,106 (GRCm39)	missense	probably damaging	1.00
R5254:Cfap46	UTSW	7	139,258,430 (GRCm39)	missense	possibly damaging	0.77
R5288:Cfap46	UTSW	7	139,193,423 (GRCm39)	critical splice donor site	probably null
R5366:Cfap46	UTSW	7	139,230,802 (GRCm39)	missense	probably damaging	1.00
R5368:Cfap46	UTSW	7	139,207,389 (GRCm39)	missense	possibly damaging	0.77
R5371:Cfap46	UTSW	7	139,212,097 (GRCm39)	splice site	probably null
R5642:Cfap46	UTSW	7	139,258,493 (GRCm39)	missense	probably damaging	1.00
R5690:Cfap46	UTSW	7	139,218,269 (GRCm39)	missense	probably benign	0.01
R5691:Cfap46	UTSW	7	139,186,616 (GRCm39)	missense	possibly damaging	0.49
R5696:Cfap46	UTSW	7	139,191,947 (GRCm39)	missense	probably damaging	1.00
R5844:Cfap46	UTSW	7	139,230,858 (GRCm39)	missense	probably damaging	0.99
R5963:Cfap46	UTSW	7	139,231,511 (GRCm39)	missense	probably damaging	0.97
R6217:Cfap46	UTSW	7	139,218,816 (GRCm39)	utr 3 prime	probably benign
R6228:Cfap46	UTSW	7	139,236,496 (GRCm39)	missense	probably damaging	1.00
R6251:Cfap46	UTSW	7	139,218,816 (GRCm39)	utr 3 prime	probably benign
R6253:Cfap46	UTSW	7	139,218,816 (GRCm39)	utr 3 prime	probably benign
R6285:Cfap46	UTSW	7	139,241,001 (GRCm39)	missense	probably damaging	1.00
R6334:Cfap46	UTSW	7	139,260,747 (GRCm39)	missense	probably damaging	1.00
R6520:Cfap46	UTSW	7	139,194,321 (GRCm39)	critical splice donor site	probably null
R6736:Cfap46	UTSW	7	139,199,887 (GRCm39)	missense	possibly damaging	0.92
R6760:Cfap46	UTSW	7	139,232,356 (GRCm39)	missense	probably damaging	1.00
R6773:Cfap46	UTSW	7	139,222,477 (GRCm39)	utr 3 prime	probably benign
R6835:Cfap46	UTSW	7	139,232,414 (GRCm39)	missense	probably damaging	0.98
R6903:Cfap46	UTSW	7	139,234,477 (GRCm39)	critical splice donor site	probably null
R6912:Cfap46	UTSW	7	139,219,616 (GRCm39)	missense	probably benign	0.09
R7163:Cfap46	UTSW	7	139,197,994 (GRCm39)	critical splice donor site	probably null
R7232:Cfap46	UTSW	7	139,197,493 (GRCm39)	missense	unknown
R7327:Cfap46	UTSW	7	139,215,062 (GRCm39)	splice site	probably null
R7336:Cfap46	UTSW	7	139,200,020 (GRCm39)	missense	unknown
R7337:Cfap46	UTSW	7	139,210,492 (GRCm39)	critical splice donor site	probably null
R7437:Cfap46	UTSW	7	139,230,753 (GRCm39)	nonsense	probably null
R7450:Cfap46	UTSW	7	139,197,353 (GRCm39)	missense	unknown
R7495:Cfap46	UTSW	7	139,183,112 (GRCm39)	critical splice donor site	probably null
R7618:Cfap46	UTSW	7	139,183,155 (GRCm39)	missense
R7623:Cfap46	UTSW	7	139,198,266 (GRCm39)	missense	unknown
R7765:Cfap46	UTSW	7	139,231,480 (GRCm39)	missense
R7971:Cfap46	UTSW	7	139,215,043 (GRCm39)	missense	unknown
R8211:Cfap46	UTSW	7	139,213,220 (GRCm39)	missense	unknown
R8306:Cfap46	UTSW	7	139,236,496 (GRCm39)	missense
R8354:Cfap46	UTSW	7	139,233,414 (GRCm39)	missense	probably benign	0.03
R8365:Cfap46	UTSW	7	139,263,000 (GRCm39)	nonsense	probably null
R8447:Cfap46	UTSW	7	139,260,902 (GRCm39)	missense	possibly damaging	0.90
R8715:Cfap46	UTSW	7	139,185,560 (GRCm39)	missense
R8805:Cfap46	UTSW	7	139,211,979 (GRCm39)	missense	unknown
R8830:Cfap46	UTSW	7	139,195,565 (GRCm39)	missense	unknown
R8912:Cfap46	UTSW	7	139,260,097 (GRCm39)	intron	probably benign
R8920:Cfap46	UTSW	7	139,232,442 (GRCm39)	missense
R8977:Cfap46	UTSW	7	139,259,849 (GRCm39)	missense	probably benign	0.01
R9048:Cfap46	UTSW	7	139,207,259 (GRCm39)	missense	unknown
R9224:Cfap46	UTSW	7	139,258,416 (GRCm39)	nonsense	probably null
R9243:Cfap46	UTSW	7	139,195,265 (GRCm39)	intron	probably benign
R9252:Cfap46	UTSW	7	139,198,165 (GRCm39)	missense	unknown
R9276:Cfap46	UTSW	7	139,201,207 (GRCm39)	missense	unknown
R9301:Cfap46	UTSW	7	139,222,461 (GRCm39)	missense
R9391:Cfap46	UTSW	7	139,198,027 (GRCm39)	missense	unknown
R9402:Cfap46	UTSW	7	139,215,865 (GRCm39)	missense	unknown
R9443:Cfap46	UTSW	7	139,195,023 (GRCm39)	missense
R9564:Cfap46	UTSW	7	139,231,471 (GRCm39)	missense
R9625:Cfap46	UTSW	7	139,230,805 (GRCm39)	missense
R9626:Cfap46	UTSW	7	139,230,805 (GRCm39)	missense
R9638:Cfap46	UTSW	7	139,209,763 (GRCm39)	missense	unknown
R9656:Cfap46	UTSW	7	139,235,816 (GRCm39)	missense
R9658:Cfap46	UTSW	7	139,246,229 (GRCm39)	missense
R9747:Cfap46	UTSW	7	139,191,907 (GRCm39)	missense	unknown
RF023:Cfap46	UTSW	7	139,218,834 (GRCm39)
W0251:Cfap46	UTSW	7	139,183,862 (GRCm39)	missense	probably benign	0.11
X0018:Cfap46	UTSW	7	139,260,828 (GRCm39)	missense	probably benign	0.03
X0064:Cfap46	UTSW	7	139,183,363 (GRCm39)	missense	probably benign	0.01
Z1088:Cfap46	UTSW	7	139,214,980 (GRCm39)	missense	probably damaging	0.96
Z1176:Cfap46	UTSW	7	139,219,464 (GRCm39)	missense
Z1177:Cfap46	UTSW	7	139,210,542 (GRCm39)	missense	unknown
Z1177:Cfap46	UTSW	7	139,181,183 (GRCm39)	missense	unknown

Posted On

2016-08-02