Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Cfap46'

569582

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik

MMRRC Submission

045427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139600951-139683817 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 139630576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

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

AlphaFold

E9Q2C0

Predicted Effect

probably null
Transcript: ENSMUST00000129990

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571

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

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,245,769 (GRCm38)	H1198Q	probably damaging	Het
Adamts14	A	G	10: 61,207,460 (GRCm38)	V743A	probably damaging	Het
Adgrg6	A	G	10: 14,467,351 (GRCm38)	V284A	possibly damaging	Het
Alb	A	G	5: 90,474,593 (GRCm38)	K560R	probably damaging	Het
Aqp9	A	T	9: 71,162,482 (GRCm38)	F8L	probably benign	Het
Arhgef7	T	C	8: 11,785,789 (GRCm38)	L182P	probably damaging	Het
Atr	A	G	9: 95,871,448 (GRCm38)	D701G	probably damaging	Het
Calr3	C	T	8: 72,431,495 (GRCm38)	D187N	probably damaging	Het
Ccdc198	A	G	14: 49,234,491 (GRCm38)	M163T	possibly damaging	Het
Ccdc65	A	G	15: 98,721,096 (GRCm38)	T319A	probably benign	Het
Ccdc66	A	T	14: 27,500,333 (GRCm38)	L151H	probably damaging	Het
Ces2e	T	A	8: 104,931,056 (GRCm38)		probably null	Het
Cfap74	A	G	4: 155,460,015 (GRCm38)	T1034A	unknown	Het
Cldnd1	T	G	16: 58,728,959 (GRCm38)		probably null	Het
Clec4f	C	A	6: 83,653,208 (GRCm38)	V123L	probably benign	Het
Cntn6	C	T	6: 104,650,530 (GRCm38)	T108I	probably damaging	Het
Crygn	T	G	5: 24,756,149 (GRCm38)	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,735,435 (GRCm38)	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,609,264 (GRCm38)		probably null	Het
Ddb1	T	C	19: 10,627,831 (GRCm38)	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,766,577 (GRCm38)		probably null	Het
Draxin	T	C	4: 148,112,759 (GRCm38)	T194A	probably benign	Het
Drosha	T	A	15: 12,846,199 (GRCm38)	D473E	possibly damaging	Het
Ecpas	T	C	4: 58,827,047 (GRCm38)	T1029A	possibly damaging	Het
G6pd2	T	A	5: 61,810,219 (GRCm38)	C446S	probably benign	Het
Gm29106	C	T	1: 118,176,912 (GRCm38)	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762 (GRCm38)	Y908C	probably damaging	Het
Ints2	G	A	11: 86,217,842 (GRCm38)	A893V	probably benign	Het
Ippk	C	T	13: 49,449,291 (GRCm38)	T371I	probably benign	Het
Irf2	T	A	8: 46,807,281 (GRCm38)	C83S	probably damaging	Het
Jph3	C	T	8: 121,753,702 (GRCm38)	A373V	probably benign	Het
Kcnj6	C	T	16: 94,833,214 (GRCm38)	V13I	probably benign	Het
Lama3	T	C	18: 12,507,040 (GRCm38)		probably null	Het
Lmo7	A	T	14: 101,884,204 (GRCm38)	Q235L	probably damaging	Het
Marchf7	A	G	2: 60,240,845 (GRCm38)		probably null	Het
Mfsd6l	A	T	11: 68,557,283 (GRCm38)	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,451,476 (GRCm38)	W1440R	probably benign	Het
Mrps17	G	A	5: 129,716,799 (GRCm38)	G19D	probably damaging	Het
Myt1	A	G	2: 181,802,963 (GRCm38)	H566R	possibly damaging	Het
Nav2	T	C	7: 49,551,773 (GRCm38)	L176P	possibly damaging	Het
Nop58	T	A	1: 59,698,440 (GRCm38)	C139S	probably benign	Het
Nsd1	A	G	13: 55,246,209 (GRCm38)	D644G	probably damaging	Het
Nsd2	T	A	5: 33,885,472 (GRCm38)	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,601,416 (GRCm38)	I235V	probably damaging	Het
Nyap2	T	C	1: 81,336,515 (GRCm38)	V642A	possibly damaging	Het
Or14n1-ps1	A	T	7: 86,443,120 (GRCm38)	L46F	unknown	Het
Or8g51	A	G	9: 38,697,865 (GRCm38)	V167A	probably benign	Het
Paqr7	A	G	4: 134,507,120 (GRCm38)	D96G	probably benign	Het
Parp4	A	G	14: 56,602,395 (GRCm38)	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,748,458 (GRCm38)	N199S	probably damaging	Het
Piezo1	A	T	8: 122,485,724 (GRCm38)	Y1955N		Het
Pnma8a	A	G	7: 16,961,390 (GRCm38)	K390R	probably benign	Het
Prdm10	G	T	9: 31,316,241 (GRCm38)	Q47H	probably damaging	Het
Psg22	T	A	7: 18,719,574 (GRCm38)	F104I	probably benign	Het
Ptprf	T	C	4: 118,211,125 (GRCm38)	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,658,445 (GRCm38)	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,705,825 (GRCm38)	I798T	probably damaging	Het
Rgs5	G	T	1: 169,655,580 (GRCm38)	M1I	probably null	Het
Rhbdl2	T	C	4: 123,817,866 (GRCm38)	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,409,579 (GRCm38)	Y547*	probably null	Het
Rptn	A	T	3: 93,396,905 (GRCm38)	D515V	probably benign	Het
Rsph10b	A	G	5: 143,961,215 (GRCm38)	N505D	probably benign	Het
Samhd1	T	C	2: 157,106,244 (GRCm38)	D539G	probably damaging	Het
Scube3	A	T	17: 28,168,182 (GRCm38)	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,784,739 (GRCm38)	I247V	possibly damaging	Het
Slc25a21	T	C	12: 56,858,043 (GRCm38)	I62V	probably benign	Het
Slc4a11	T	A	2: 130,685,532 (GRCm38)	N648Y	probably damaging	Het
Slc7a11	A	G	3: 50,442,999 (GRCm38)	V88A	possibly damaging	Het
Slc7a8	A	C	14: 54,726,806 (GRCm38)	F397V	possibly damaging	Het
Sox12	A	C	2: 152,397,457 (GRCm38)	L81R	probably damaging	Het
Spg11	T	C	2: 122,084,993 (GRCm38)	I1057V	probably benign	Het
St8sia3	G	A	18: 64,269,916 (GRCm38)	V265I	probably benign	Het
Stxbp5	A	G	10: 9,809,130 (GRCm38)	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323 (GRCm38)	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,874,126 (GRCm38)	R1625L	probably benign	Het
Tlr4	T	C	4: 66,839,954 (GRCm38)	F328S	possibly damaging	Het
Tmprss15	T	C	16: 79,071,276 (GRCm38)	T215A	probably benign	Het
Tmprss9	A	T	10: 80,882,670 (GRCm38)	I62L	probably benign	Het
Trpm5	C	T	7: 143,089,019 (GRCm38)	A64T	probably benign	Het
Txk	A	C	5: 72,731,766 (GRCm38)	Y148*	probably null	Het
Uba5	C	T	9: 104,055,255 (GRCm38)	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,086,175 (GRCm38)	D231E	probably benign	Het
Ulk4	A	T	9: 121,248,927 (GRCm38)	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,790,224 (GRCm38)	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,179,623 (GRCm38)	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,622,117 (GRCm38)	F454S	probably benign	Het
Zbp1	A	T	2: 173,218,753 (GRCm38)	L8*	probably null	Het
Zmym2	A	T	14: 56,944,100 (GRCm38)	D924V	probably benign	Het

Other mutations in Cfap46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Cfap46	APN	7	139,660,689 (GRCm38)	missense	probably damaging	0.96
IGL00493:Cfap46	APN	7	139,614,443 (GRCm38)	missense	probably benign	0.06
IGL00505:Cfap46	APN	7	139,660,689 (GRCm38)	missense	probably damaging	0.96
IGL00508:Cfap46	APN	7	139,660,689 (GRCm38)	missense	probably damaging	0.96
IGL00514:Cfap46	APN	7	139,660,689 (GRCm38)	missense	probably damaging	0.96
IGL01394:Cfap46	APN	7	139,666,979 (GRCm38)	missense	probably damaging	1.00
IGL01621:Cfap46	APN	7	139,606,607 (GRCm38)	missense	unknown
IGL02171:Cfap46	APN	7	139,667,056 (GRCm38)	missense	possibly damaging	0.86
IGL02343:Cfap46	APN	7	139,682,509 (GRCm38)	missense	probably damaging	0.99
IGL02679:Cfap46	APN	7	139,614,470 (GRCm38)	missense	probably damaging	0.99
IGL02687:Cfap46	APN	7	139,607,201 (GRCm38)	missense	probably damaging	0.99
IGL03180:Cfap46	APN	7	139,603,252 (GRCm38)	missense	unknown
IGL03329:Cfap46	APN	7	139,601,165 (GRCm38)	missense	probably damaging	0.99
FR4449:Cfap46	UTSW	7	139,638,795 (GRCm38)	utr 3 prime	probably benign
FR4737:Cfap46	UTSW	7	139,638,930 (GRCm38)	utr 3 prime	probably benign
FR4976:Cfap46	UTSW	7	139,638,930 (GRCm38)	utr 3 prime	probably benign
PIT4651001:Cfap46	UTSW	7	139,645,551 (GRCm38)	missense
R0051:Cfap46	UTSW	7	139,676,035 (GRCm38)	missense	probably damaging	1.00
R0051:Cfap46	UTSW	7	139,676,035 (GRCm38)	missense	probably damaging	1.00
R0318:Cfap46	UTSW	7	139,654,566 (GRCm38)	missense	probably damaging	1.00
R0358:Cfap46	UTSW	7	139,651,533 (GRCm38)	splice site	probably benign
R0650:Cfap46	UTSW	7	139,605,655 (GRCm38)	missense	unknown
R0675:Cfap46	UTSW	7	139,676,034 (GRCm38)	missense	probably damaging	1.00
R0750:Cfap46	UTSW	7	139,654,670 (GRCm38)	missense	probably damaging	1.00
R0931:Cfap46	UTSW	7	139,655,841 (GRCm38)	missense	probably damaging	1.00
R1024:Cfap46	UTSW	7	139,642,597 (GRCm38)	missense	probably benign	0.42
R1251:Cfap46	UTSW	7	139,601,265 (GRCm38)	missense	probably benign	0.40
R1257:Cfap46	UTSW	7	139,654,629 (GRCm38)	nonsense	probably null
R1538:Cfap46	UTSW	7	139,683,008 (GRCm38)	missense	probably null	1.00
R1618:Cfap46	UTSW	7	139,652,810 (GRCm38)	missense	probably benign	0.04
R1655:Cfap46	UTSW	7	139,642,520 (GRCm38)	nonsense	probably null
R1824:Cfap46	UTSW	7	139,639,602 (GRCm38)	missense	probably benign	0.12
R1830:Cfap46	UTSW	7	139,640,407 (GRCm38)	missense	possibly damaging	0.92
R1857:Cfap46	UTSW	7	139,653,408 (GRCm38)	missense	probably damaging	1.00
R1870:Cfap46	UTSW	7	139,683,470 (GRCm38)	missense	probably damaging	1.00
R1945:Cfap46	UTSW	7	139,679,903 (GRCm38)	missense	probably damaging	1.00
R1962:Cfap46	UTSW	7	139,667,041 (GRCm38)	missense	probably damaging	1.00
R2108:Cfap46	UTSW	7	139,683,761 (GRCm38)	missense	probably benign	0.03
R2354:Cfap46	UTSW	7	139,661,046 (GRCm38)	missense	probably damaging	0.99
R2367:Cfap46	UTSW	7	139,653,498 (GRCm38)	missense	probably damaging	0.99
R3237:Cfap46	UTSW	7	139,617,590 (GRCm38)	missense	probably damaging	1.00
R3617:Cfap46	UTSW	7	139,639,599 (GRCm38)	missense	probably benign	0.06
R3949:Cfap46	UTSW	7	139,678,551 (GRCm38)	missense	probably benign	0.12
R4239:Cfap46	UTSW	7	139,666,287 (GRCm38)	missense	possibly damaging	0.74
R4240:Cfap46	UTSW	7	139,666,287 (GRCm38)	missense	possibly damaging	0.74
R4297:Cfap46	UTSW	7	139,652,673 (GRCm38)	missense	probably benign	0.27
R4365:Cfap46	UTSW	7	139,650,952 (GRCm38)	missense	probably damaging	0.99
R4516:Cfap46	UTSW	7	139,660,082 (GRCm38)	intron	probably benign
R4595:Cfap46	UTSW	7	139,652,404 (GRCm38)	missense	possibly damaging	0.74
R4627:Cfap46	UTSW	7	139,680,927 (GRCm38)	missense	probably damaging	1.00
R4627:Cfap46	UTSW	7	139,657,281 (GRCm38)	missense	probably damaging	0.99
R4628:Cfap46	UTSW	7	139,680,927 (GRCm38)	missense	probably damaging	1.00
R4629:Cfap46	UTSW	7	139,680,927 (GRCm38)	missense	probably damaging	1.00
R4687:Cfap46	UTSW	7	139,627,456 (GRCm38)	missense	possibly damaging	0.79
R4750:Cfap46	UTSW	7	139,679,323 (GRCm38)	critical splice donor site	probably null
R4771:Cfap46	UTSW	7	139,630,608 (GRCm38)	missense	probably null
R4779:Cfap46	UTSW	7	139,659,815 (GRCm38)	intron	probably benign
R4812:Cfap46	UTSW	7	139,636,000 (GRCm38)	missense	probably damaging	1.00
R4974:Cfap46	UTSW	7	139,607,188 (GRCm38)	critical splice donor site	probably null
R5014:Cfap46	UTSW	7	139,627,375 (GRCm38)	missense	probably benign	0.12
R5033:Cfap46	UTSW	7	139,603,860 (GRCm38)	missense	probably benign	0.00
R5055:Cfap46	UTSW	7	139,661,190 (GRCm38)	missense	probably damaging	1.00
R5254:Cfap46	UTSW	7	139,678,514 (GRCm38)	missense	possibly damaging	0.77
R5288:Cfap46	UTSW	7	139,613,507 (GRCm38)	critical splice donor site	probably null
R5366:Cfap46	UTSW	7	139,650,886 (GRCm38)	missense	probably damaging	1.00
R5368:Cfap46	UTSW	7	139,627,473 (GRCm38)	missense	possibly damaging	0.77
R5371:Cfap46	UTSW	7	139,632,181 (GRCm38)	splice site	probably null
R5642:Cfap46	UTSW	7	139,678,577 (GRCm38)	missense	probably damaging	1.00
R5690:Cfap46	UTSW	7	139,638,353 (GRCm38)	missense	probably benign	0.01
R5691:Cfap46	UTSW	7	139,606,700 (GRCm38)	missense	possibly damaging	0.49
R5696:Cfap46	UTSW	7	139,612,031 (GRCm38)	missense	probably damaging	1.00
R5844:Cfap46	UTSW	7	139,650,942 (GRCm38)	missense	probably damaging	0.99
R5963:Cfap46	UTSW	7	139,651,595 (GRCm38)	missense	probably damaging	0.97
R6217:Cfap46	UTSW	7	139,638,900 (GRCm38)	utr 3 prime	probably benign
R6228:Cfap46	UTSW	7	139,656,580 (GRCm38)	missense	probably damaging	1.00
R6251:Cfap46	UTSW	7	139,638,900 (GRCm38)	utr 3 prime	probably benign
R6253:Cfap46	UTSW	7	139,638,900 (GRCm38)	utr 3 prime	probably benign
R6285:Cfap46	UTSW	7	139,661,085 (GRCm38)	missense	probably damaging	1.00
R6334:Cfap46	UTSW	7	139,680,831 (GRCm38)	missense	probably damaging	1.00
R6520:Cfap46	UTSW	7	139,614,405 (GRCm38)	critical splice donor site	probably null
R6736:Cfap46	UTSW	7	139,619,971 (GRCm38)	missense	possibly damaging	0.92
R6760:Cfap46	UTSW	7	139,652,440 (GRCm38)	missense	probably damaging	1.00
R6773:Cfap46	UTSW	7	139,642,561 (GRCm38)	utr 3 prime	probably benign
R6835:Cfap46	UTSW	7	139,652,498 (GRCm38)	missense	probably damaging	0.98
R6903:Cfap46	UTSW	7	139,654,561 (GRCm38)	critical splice donor site	probably null
R6912:Cfap46	UTSW	7	139,639,700 (GRCm38)	missense	probably benign	0.09
R7163:Cfap46	UTSW	7	139,618,078 (GRCm38)	critical splice donor site	probably null
R7232:Cfap46	UTSW	7	139,617,577 (GRCm38)	missense	unknown
R7327:Cfap46	UTSW	7	139,635,146 (GRCm38)	splice site	probably null
R7336:Cfap46	UTSW	7	139,620,104 (GRCm38)	missense	unknown
R7437:Cfap46	UTSW	7	139,650,837 (GRCm38)	nonsense	probably null
R7450:Cfap46	UTSW	7	139,617,437 (GRCm38)	missense	unknown
R7495:Cfap46	UTSW	7	139,603,196 (GRCm38)	critical splice donor site	probably null
R7618:Cfap46	UTSW	7	139,603,239 (GRCm38)	missense
R7623:Cfap46	UTSW	7	139,618,350 (GRCm38)	missense	unknown
R7765:Cfap46	UTSW	7	139,651,564 (GRCm38)	missense
R7971:Cfap46	UTSW	7	139,635,127 (GRCm38)	missense	unknown
R8211:Cfap46	UTSW	7	139,633,304 (GRCm38)	missense	unknown
R8306:Cfap46	UTSW	7	139,656,580 (GRCm38)	missense
R8354:Cfap46	UTSW	7	139,653,498 (GRCm38)	missense	probably benign	0.03
R8365:Cfap46	UTSW	7	139,683,084 (GRCm38)	nonsense	probably null
R8447:Cfap46	UTSW	7	139,680,986 (GRCm38)	missense	possibly damaging	0.90
R8715:Cfap46	UTSW	7	139,605,644 (GRCm38)	missense
R8805:Cfap46	UTSW	7	139,632,063 (GRCm38)	missense	unknown
R8830:Cfap46	UTSW	7	139,615,649 (GRCm38)	missense	unknown
R8912:Cfap46	UTSW	7	139,680,181 (GRCm38)	intron	probably benign
R8920:Cfap46	UTSW	7	139,652,526 (GRCm38)	missense
R8977:Cfap46	UTSW	7	139,679,933 (GRCm38)	missense	probably benign	0.01
R9048:Cfap46	UTSW	7	139,627,343 (GRCm38)	missense	unknown
R9224:Cfap46	UTSW	7	139,678,500 (GRCm38)	nonsense	probably null
R9243:Cfap46	UTSW	7	139,615,349 (GRCm38)	intron	probably benign
R9252:Cfap46	UTSW	7	139,618,249 (GRCm38)	missense	unknown
R9276:Cfap46	UTSW	7	139,621,291 (GRCm38)	missense	unknown
R9301:Cfap46	UTSW	7	139,642,545 (GRCm38)	missense
R9391:Cfap46	UTSW	7	139,618,111 (GRCm38)	missense	unknown
R9402:Cfap46	UTSW	7	139,635,949 (GRCm38)	missense	unknown
R9443:Cfap46	UTSW	7	139,615,107 (GRCm38)	missense
R9564:Cfap46	UTSW	7	139,651,555 (GRCm38)	missense
R9625:Cfap46	UTSW	7	139,650,889 (GRCm38)	missense
R9626:Cfap46	UTSW	7	139,650,889 (GRCm38)	missense
R9638:Cfap46	UTSW	7	139,629,847 (GRCm38)	missense	unknown
R9656:Cfap46	UTSW	7	139,655,900 (GRCm38)	missense
R9658:Cfap46	UTSW	7	139,666,313 (GRCm38)	missense
R9747:Cfap46	UTSW	7	139,611,991 (GRCm38)	missense	unknown
RF023:Cfap46	UTSW	7	139,638,918 (GRCm38)
W0251:Cfap46	UTSW	7	139,603,946 (GRCm38)	missense	probably benign	0.11
X0018:Cfap46	UTSW	7	139,680,912 (GRCm38)	missense	probably benign	0.03
X0064:Cfap46	UTSW	7	139,603,447 (GRCm38)	missense	probably benign	0.01
Z1088:Cfap46	UTSW	7	139,635,064 (GRCm38)	missense	probably damaging	0.96
Z1176:Cfap46	UTSW	7	139,639,548 (GRCm38)	missense
Z1177:Cfap46	UTSW	7	139,630,626 (GRCm38)	missense	unknown
Z1177:Cfap46	UTSW	7	139,601,267 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCCCTGACAGCCCTCCATAAG -3'
(R):5'- ACAACATGGGGTGCATGTCG -3'

Sequencing Primer
(F):5'- CTCCATAAGGGGGCAAAGCTC -3'
(R):5'- CATGTCGGGGGTGGGTG -3'

Posted On

2019-09-13