Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Cfap46'

539093

Institutional Source

Beutler Lab

Gene Symbol

Cfap46

Ensembl Gene

ENSMUSG00000049571

Gene Name

cilia and flagella associated protein 46

Synonyms

9330101J02Rik, Ttc40

MMRRC Submission

045004-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139180867-139263733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139219616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1283 (S1283L)

Ref Sequence

ENSEMBL: ENSMUSP00000120186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129990] [ENSMUST00000140820] [ENSMUST00000155075]

AlphaFold

E9Q2C0

Predicted Effect

probably benign
Transcript: ENSMUST00000129990
AA Change: S1283L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: S1283L

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

probably benign
Transcript: ENSMUST00000140820

SMART Domains

Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571

Domain	Start	End	E-Value	Type
Blast:TPR	175	208	5e-11	BLAST
Blast:TPR	426	459	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000155075

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,150,571 (GRCm39)	T67I	possibly damaging	Het
Abca5	A	T	11: 110,197,106 (GRCm39)	M524K	probably benign	Het
Aco2	G	A	15: 81,779,597 (GRCm39)	V134I	probably benign	Het
Acsf2	C	T	11: 94,461,206 (GRCm39)	M323I	probably benign	Het
Acvr1	T	C	2: 58,337,585 (GRCm39)	D499G	probably benign	Het
Armc5	G	A	7: 127,839,597 (GRCm39)	C305Y	probably damaging	Het
Astl	T	C	2: 127,198,306 (GRCm39)	I286T	probably benign	Het
Atp8a2	G	A	14: 60,249,859 (GRCm39)	S544L	probably benign	Het
Bbs7	G	T	3: 36,659,853 (GRCm39)	A194E	probably benign	Het
Brca2	A	G	5: 150,465,207 (GRCm39)	D1657G	probably damaging	Het
Creld2	T	C	15: 88,704,200 (GRCm39)	S64P	probably damaging	Het
Crtc1	T	C	8: 70,850,961 (GRCm39)	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,675,320 (GRCm39)	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,183,108 (GRCm39)	M487V	probably benign	Het
Dnah12	T	C	14: 26,600,036 (GRCm39)	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,577,748 (GRCm39)	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,698,221 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,003 (GRCm39)	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,594,011 (GRCm39)	I720F	probably benign	Het
Fam83b	T	A	9: 76,398,214 (GRCm39)	E963V	probably damaging	Het
Fat1	T	A	8: 45,504,060 (GRCm39)	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,617,148 (GRCm39)	K118*	probably null	Het
Fcgbp	A	T	7: 27,789,129 (GRCm39)	Y565F	probably benign	Het
Garre1	A	G	7: 33,945,093 (GRCm39)	S384P	probably benign	Het
Gm128	A	T	3: 95,147,740 (GRCm39)	S185T	probably benign	Het
Gm6309	C	T	5: 146,105,640 (GRCm39)	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	T	C	14: 33,916,597 (GRCm39)	Y391C	probably damaging	Het
Hexa	T	C	9: 59,447,221 (GRCm39)	L72P	probably damaging	Het
Il31ra	T	A	13: 112,685,998 (GRCm39)	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,372,529 (GRCm39)	A939T	probably benign	Het
Kif16b	A	G	2: 142,542,019 (GRCm39)		probably benign	Het
Kndc1	A	T	7: 139,490,194 (GRCm39)	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,348,369 (GRCm39)	R2775S	unknown	Het
Luc7l3	C	T	11: 94,200,462 (GRCm39)	R52H	probably damaging	Het
Mapk15	A	T	15: 75,865,747 (GRCm39)	R13S	probably damaging	Het
Mdga2	G	T	12: 66,552,889 (GRCm39)	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,920,611 (GRCm39)	Q69*	probably null	Het
Mlph	A	T	1: 90,873,342 (GRCm39)	D551V	probably damaging	Het
Mup5	A	T	4: 61,752,806 (GRCm39)	F72L	probably benign	Het
Narf	T	C	11: 121,129,287 (GRCm39)	S24P	probably benign	Het
Ncapg2	A	G	12: 116,390,202 (GRCm39)	I384V	probably benign	Het
Neo1	T	C	9: 58,824,335 (GRCm39)	T698A	probably benign	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Nrros	T	C	16: 31,981,057 (GRCm39)	R24G	probably null	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or6b1	T	C	6: 42,815,736 (GRCm39)	V307A	probably benign	Het
Pde9a	T	C	17: 31,685,386 (GRCm39)	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 71,961,222 (GRCm39)	D315G	probably benign	Het
Plaat5	A	G	19: 7,616,830 (GRCm39)		probably benign	Het
Plekha6	C	T	1: 133,200,273 (GRCm39)	A284V	probably benign	Het
Plekhg2	A	G	7: 28,059,684 (GRCm39)	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,711 (GRCm39)	A144E	probably damaging	Het
Ppp1r10	T	C	17: 36,240,453 (GRCm39)	V581A	possibly damaging	Het
Prr12	A	G	7: 44,698,269 (GRCm39)		probably benign	Het
Rfx6	T	C	10: 51,599,949 (GRCm39)	V565A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Saxo2	A	G	7: 82,284,402 (GRCm39)	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,793,946 (GRCm39)	D86G	probably benign	Het
Shroom3	A	T	5: 93,090,876 (GRCm39)	M1128L	probably benign	Het
Smok2a	C	A	17: 13,444,543 (GRCm39)	T40K	probably benign	Het
Tatdn1	C	T	15: 58,793,118 (GRCm39)		probably null	Het
Tbc1d2	C	A	4: 46,649,712 (GRCm39)	G108V	probably damaging	Het
Tbck	T	C	3: 132,392,703 (GRCm39)	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,527,601 (GRCm39)	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,440,719 (GRCm39)	D245G	probably benign	Het
Trim68	A	T	7: 102,333,675 (GRCm39)	D2E	probably damaging	Het
Trps1	T	A	15: 50,685,694 (GRCm39)	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,495,800 (GRCm39)	T385A	probably benign	Het
Ubap2l	A	T	3: 89,946,155 (GRCm39)	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,389,352 (GRCm39)	R105W	probably damaging	Het
Ubr4	G	A	4: 139,185,545 (GRCm39)		probably null	Het
Unc5b	A	G	10: 60,666,871 (GRCm39)	L25P	probably benign	Het
Usp38	A	G	8: 81,719,958 (GRCm39)	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,416,374 (GRCm39)	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,457,599 (GRCm39)	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 19,047,464 (GRCm39)	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,099,196 (GRCm39)		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
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
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

PCR Primer
(F):5'- AGGGATCTTCACAGCTTAGC -3'
(R):5'- TGCTGCACAAACTCCAGTCC -3'

Sequencing Primer
(F):5'- ACAGCTTAGCACCGTATCTTTAG -3'
(R):5'- AAACTCCAGTCCAGGGCAGG -3'

Posted On

2018-11-06