Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01621:Cfap46'

92579

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 #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

139180867-139263733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139186523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 2462 (N2462S)

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: N2462S

SMART Domains

Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: N2462S

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: N17S

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,726 (GRCm39)	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 89,971,809 (GRCm39)	M56K	possibly damaging	Het
Abca6	A	G	11: 110,075,534 (GRCm39)	L1319S	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aloxe3	A	G	11: 69,020,839 (GRCm39)	N188S	probably benign	Het
Ap1s1	G	A	5: 137,070,658 (GRCm39)	R119*	probably null	Het
Apc2	T	G	10: 80,142,035 (GRCm39)	L318R	probably damaging	Het
Atg101	A	G	15: 101,184,976 (GRCm39)	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,253,317 (GRCm39)		probably benign	Het
Bpifb9b	C	A	2: 154,158,871 (GRCm39)		probably null	Het
Braf	A	T	6: 39,623,787 (GRCm39)		probably benign	Het
Cabp5	A	G	7: 13,135,189 (GRCm39)	D43G	probably damaging	Het
Cit	C	T	5: 116,130,662 (GRCm39)		probably benign	Het
Cpa4	T	C	6: 30,574,415 (GRCm39)	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,517,791 (GRCm39)	I474V	probably benign	Het
Dennd1a	C	A	2: 37,734,821 (GRCm39)	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,198,289 (GRCm39)	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,813,893 (GRCm39)	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897 (GRCm39)		probably null	Het
E2f6	A	G	12: 16,875,369 (GRCm39)	D268G	probably benign	Het
Evi2b	T	A	11: 79,407,126 (GRCm39)	T150S	probably damaging	Het
F13b	A	G	1: 139,431,589 (GRCm39)	D53G	probably benign	Het
Fbxo38	G	A	18: 62,655,595 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,950,470 (GRCm38)	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Gm21759	A	G	5: 8,229,775 (GRCm39)		probably benign	Het
Gtse1	A	G	15: 85,759,283 (GRCm39)	N597S	probably benign	Het
Hcn3	G	T	3: 89,055,030 (GRCm39)	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,263,612 (GRCm39)	N107I	probably damaging	Het
Inava	C	A	1: 136,147,513 (GRCm39)	A402S	probably damaging	Het
Iqub	T	C	6: 24,446,211 (GRCm39)	K738E	probably benign	Het
Itga6	A	T	2: 71,656,000 (GRCm39)	D308V	probably benign	Het
Klf12	T	C	14: 100,260,585 (GRCm39)	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,186,384 (GRCm39)	*351Q	probably null	Het
Krt40	A	T	11: 99,433,694 (GRCm39)	N97K	probably damaging	Het
Lrit1	A	C	14: 36,782,112 (GRCm39)	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,560,910 (GRCm39)	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 131,981,881 (GRCm39)	S149P	probably benign	Het
Minar2	A	G	18: 59,195,458 (GRCm39)	M1V	probably null	Het
Mipep	A	G	14: 61,033,614 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,962,641 (GRCm39)		probably benign	Het
N4bp2	A	T	5: 65,948,267 (GRCm39)	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221 (GRCm39)	P190S	probably benign	Het
Nos1	T	A	5: 118,083,949 (GRCm39)	I1253N	probably damaging	Het
Nup210	G	T	6: 91,007,099 (GRCm39)	F572L	probably damaging	Het
Or10k2	T	C	8: 84,268,247 (GRCm39)	V158A	probably benign	Het
Or1e30	T	C	11: 73,678,103 (GRCm39)	F113S	probably damaging	Het
Or2y11	T	C	11: 49,442,964 (GRCm39)	L130P	probably damaging	Het
P4htm	T	A	9: 108,460,935 (GRCm39)	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,637,860 (GRCm39)	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,514,490 (GRCm39)	E240G	probably benign	Het
Pex5l	T	C	3: 33,069,110 (GRCm39)		probably null	Het
Plcd1	T	C	9: 118,905,246 (GRCm39)	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,349,062 (GRCm39)	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,801,526 (GRCm39)	Q386L	possibly damaging	Het
Pramel25	T	C	4: 143,520,502 (GRCm39)	F85L	probably benign	Het
Prpf40b	A	G	15: 99,207,926 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,233,187 (GRCm39)		probably null	Het
Ripor3	A	T	2: 167,839,172 (GRCm39)	S110T	probably damaging	Het
Sec24d	G	A	3: 123,087,807 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,615,131 (GRCm39)	S165G	probably benign	Het
Shank1	C	T	7: 43,991,889 (GRCm39)	A698V	unknown	Het
Shank1	T	C	7: 44,001,023 (GRCm39)	M914T	unknown	Het
Slc22a3	T	C	17: 12,677,379 (GRCm39)	Q263R	probably benign	Het
Smc1a	C	A	X: 150,819,125 (GRCm39)	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,736,873 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,331,498 (GRCm39)	T484K	probably damaging	Het
Ubr4	G	T	4: 139,168,094 (GRCm39)	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,192,806 (GRCm39)	M163I	probably benign	Het
Zfp69	T	A	4: 120,788,697 (GRCm39)	K206M	probably damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	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
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
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

2013-12-09