Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Cfap46'

452850

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik, Ttc40

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139180867-139263733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139183776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 90 (L90F)

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

probably benign
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

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

probably benign
Transcript: ENSMUST00000196540
AA Change: L90F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9930111J21Rik1	G	A	11: 48,838,533 (GRCm39)	R685W	probably damaging	Het
Arhgap10	A	T	8: 78,109,386 (GRCm39)	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,488,859 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,728,132 (GRCm39)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,458,044 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,105,838 (GRCm39)	E788G	probably damaging	Het
Catsperg2	A	C	7: 29,409,559 (GRCm39)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 179,892,580 (GRCm39)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,733,282 (GRCm39)		probably benign	Het
Cndp2	A	G	18: 84,688,954 (GRCm39)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Daam1	C	A	12: 71,993,294 (GRCm39)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,824 (GRCm39)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,132,745 (GRCm39)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,477,544 (GRCm39)	H179R	probably damaging	Het
Dym	A	G	18: 75,252,232 (GRCm39)	N333D	possibly damaging	Het
Eif2b3	A	G	4: 116,909,933 (GRCm39)	D156G	probably damaging	Het
Emc1	A	G	4: 139,099,007 (GRCm39)	D830G	probably damaging	Het
F13a1	A	C	13: 37,172,830 (GRCm39)	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,277,043 (GRCm39)		probably benign	Het
Fdft1	C	A	14: 63,400,853 (GRCm39)	K93N	probably damaging	Het
Garre1	C	T	7: 33,945,237 (GRCm39)	G336S	probably benign	Het
Gcc2	A	G	10: 58,114,628 (GRCm39)	D959G	probably damaging	Het
Gp2	A	G	7: 119,053,514 (GRCm39)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,423,906 (GRCm39)	C587S	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Iars2	A	G	1: 185,050,125 (GRCm39)	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,332,684 (GRCm39)	C121W	probably damaging	Het
Inhca	A	G	9: 103,156,613 (GRCm39)	V149A	probably benign	Het
Jazf1	A	G	6: 52,754,525 (GRCm39)	Y184H	probably damaging	Het
Kel	A	T	6: 41,675,989 (GRCm39)	Y234N	probably damaging	Het
Khk	G	A	5: 31,087,004 (GRCm39)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm39)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,519,706 (GRCm39)	L2135F	probably benign	Het
Krtap15-1	A	G	16: 88,626,044 (GRCm39)	Y37C	probably damaging	Het
Lars1	A	G	18: 42,347,841 (GRCm39)	F994S	possibly damaging	Het
Ldc1	C	T	4: 130,115,408 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lrrc2	A	T	9: 110,809,987 (GRCm39)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,046,662 (GRCm39)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,934,491 (GRCm39)		probably null	Het
Or10ag60	T	A	2: 87,438,055 (GRCm39)	C108S	probably damaging	Het
Or11h6	T	A	14: 50,880,619 (GRCm39)	Y288N	probably damaging	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,235,779 (GRCm39)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,210,740 (GRCm39)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm39)	W969R	probably null	Het
Pigr	A	T	1: 130,772,436 (GRCm39)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 44,804,278 (GRCm39)		probably benign	Het
Pik3cg	A	T	12: 32,249,195 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,424,294 (GRCm39)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,141,084 (GRCm39)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,659,042 (GRCm39)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,552,449 (GRCm39)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,333,071 (GRCm39)	Q213*	probably null	Het
Prpf6	T	A	2: 181,291,899 (GRCm39)	C739S	possibly damaging	Het
Psmc3	T	A	2: 90,884,953 (GRCm39)	S40T	probably benign	Het
Psmd3	A	T	11: 98,573,650 (GRCm39)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,582,207 (GRCm39)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,397,666 (GRCm39)	S328A	probably benign	Het
Ros1	C	T	10: 52,004,512 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,602,140 (GRCm39)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,415,464 (GRCm39)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,309,661 (GRCm39)	V664A	probably benign	Het
Selenoo	T	A	15: 88,976,969 (GRCm39)	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,147,962 (GRCm39)		probably null	Het
Slc28a2b	T	A	2: 122,353,395 (GRCm39)		probably null	Het
Slco2b1	G	T	7: 99,309,256 (GRCm39)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,077,623 (GRCm39)	D137V	probably damaging	Het
Srrm2	G	A	17: 24,039,592 (GRCm39)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,523,880 (GRCm39)	C692S	probably benign	Het
Sulf2	T	A	2: 165,923,542 (GRCm39)	D559V	probably benign	Het
Tbpl2	T	C	2: 23,977,170 (GRCm39)	I283V	probably benign	Het
Tmem19	A	G	10: 115,195,666 (GRCm39)	F46S	probably benign	Het
Trp63	T	A	16: 25,582,056 (GRCm39)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,716,786 (GRCm39)		probably benign	Het
Ube2z	A	T	11: 95,941,148 (GRCm39)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,742,478 (GRCm39)		probably null	Het
Vmn1r235	A	T	17: 21,482,550 (GRCm39)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,501 (GRCm39)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,167,220 (GRCm39)	V637A	probably benign	Het
Xpnpep1	C	A	19: 52,994,606 (GRCm39)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,084,759 (GRCm39)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,684,502 (GRCm39)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,479,921 (GRCm39)	S857P	probably benign	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
IGL03180:Cfap46	APN	7	139,183,168 (GRCm39)	missense	unknown
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
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

Predicted Primers

Posted On

2017-01-20