Mutagenetix > Incidental Mutation

Incidental Mutation 'P0035:Cfap70'

7680

Institutional Source

Beutler Lab

Gene Symbol

Cfap70

Ensembl Gene

ENSMUSG00000039543

Gene Name

cilia and flagella associated protein 70

Synonyms

5330402L21Rik, Ttc18

MMRRC Submission

038285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

P0035 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

20444261-20502294 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 20474539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073]

AlphaFold

D3YVL2

Predicted Effect

probably benign
Transcript: ENSMUST00000022348

SMART Domains

Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543

Domain	Start	End	E-Value	Type
Blast:C2	11	122	5e-44	BLAST
low complexity region	494	503	N/A	INTRINSIC
low complexity region	581	590	N/A	INTRINSIC
Blast:TPR	591	623	2e-11	BLAST
Blast:TPR	624	657	3e-15	BLAST
TPR	658	691	1.73e1	SMART
Blast:TPR	693	724	2e-7	BLAST
TPR	905	938	1.26e1	SMART
TPR	939	972	5.03e-1	SMART
TPR	976	1009	2.52e-1	SMART
TPR	1043	1076	2.07e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022349

SMART Domains

Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543

Domain	Start	End	E-Value	Type
Blast:C2	11	122	5e-44	BLAST
low complexity region	438	447	N/A	INTRINSIC
low complexity region	569	578	N/A	INTRINSIC
Blast:TPR	579	611	2e-11	BLAST
Blast:TPR	612	645	3e-15	BLAST
TPR	646	679	1.73e1	SMART
Blast:TPR	681	712	2e-7	BLAST
TPR	932	965	1.26e1	SMART
TPR	966	999	5.03e-1	SMART
TPR	1003	1036	2.52e-1	SMART
TPR	1070	1103	2.07e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056073

SMART Domains

Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543

Domain	Start	End	E-Value	Type
Blast:C2	11	122	5e-44	BLAST
low complexity region	494	503	N/A	INTRINSIC
low complexity region	625	634	N/A	INTRINSIC
Blast:TPR	635	667	2e-11	BLAST
Blast:TPR	668	701	3e-15	BLAST
TPR	702	735	1.73e1	SMART
Blast:TPR	737	768	2e-7	BLAST
TPR	949	982	1.26e1	SMART
TPR	983	1016	5.03e-1	SMART
TPR	1020	1053	2.52e-1	SMART
TPR	1087	1120	2.07e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141432

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543

Domain	Start	End	E-Value	Type
Blast:C2	11	122	5e-44	BLAST
low complexity region	494	503	N/A	INTRINSIC
low complexity region	630	639	N/A	INTRINSIC
Blast:TPR	640	672	2e-11	BLAST
Blast:TPR	673	706	3e-15	BLAST
TPR	707	740	1.73e1	SMART
Blast:TPR	742	773	2e-7	BLAST
TPR	954	987	1.26e1	SMART
TPR	988	1021	5.03e-1	SMART
TPR	1025	1058	2.52e-1	SMART
TPR	1092	1125	2.07e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148692

Coding Region Coverage

1x: 79.0%
3x: 68.4%
10x: 37.5%
20x: 15.8%

Validation Efficiency

82% (103/125)

Allele List at MGI

All alleles(17) : Targeted(2) Gene trapped(15)

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	C	T	17: 32,431,812 (GRCm39)		probably null	Het
Bub1b	G	A	2: 118,452,666 (GRCm39)	E440K	probably damaging	Het
Cryba2	A	G	1: 74,929,171 (GRCm39)	S191P	probably damaging	Het
Dsg3	A	C	18: 20,673,026 (GRCm39)	N899T	probably benign	Het
Htr2b	A	T	1: 86,038,452 (GRCm39)	H51Q	probably benign	Het
Lmod2	T	C	6: 24,597,885 (GRCm39)	S2P	probably damaging	Het
Lrrc37a	T	A	11: 103,393,958 (GRCm39)	E489V	possibly damaging	Het
Mdn1	A	T	4: 32,749,934 (GRCm39)	Q4372H	probably benign	Het
Med13l	C	T	5: 118,880,685 (GRCm39)	T1259I	probably benign	Het
Muc4	T	C	16: 32,580,622 (GRCm39)		probably benign	Het
Pcsk2	C	T	2: 143,637,871 (GRCm39)	T369I	probably damaging	Het
Pggt1b	G	C	18: 46,392,787 (GRCm39)	H121Q	probably damaging	Het
Pkhd1	T	C	1: 20,187,571 (GRCm39)	D3579G	probably benign	Het
Psd	T	C	19: 46,309,400 (GRCm39)	E520G	possibly damaging	Het
Scfd2	A	T	5: 74,385,980 (GRCm39)	M613K	possibly damaging	Het
Tbc1d32	A	C	10: 56,074,535 (GRCm39)	F226C	probably damaging	Het
Ttc8	T	C	12: 98,942,675 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,009,086 (GRCm39)	S351P	probably benign	Het

Other mutations in Cfap70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Cfap70	APN	14	20,462,530 (GRCm39)	missense	possibly damaging	0.77
IGL00567:Cfap70	APN	14	20,444,748 (GRCm39)	missense	probably benign	0.30
IGL00773:Cfap70	APN	14	20,497,602 (GRCm39)	missense	probably damaging	1.00
IGL01061:Cfap70	APN	14	20,497,693 (GRCm39)	splice site	probably benign
IGL01520:Cfap70	APN	14	20,470,755 (GRCm39)	missense	probably benign	0.23
IGL01665:Cfap70	APN	14	20,453,186 (GRCm39)	missense	probably damaging	1.00
IGL01918:Cfap70	APN	14	20,475,467 (GRCm39)	missense	possibly damaging	0.81
IGL02211:Cfap70	APN	14	20,445,040 (GRCm39)	missense	probably damaging	1.00
IGL02613:Cfap70	APN	14	20,459,132 (GRCm39)	splice site	probably null
IGL03142:Cfap70	APN	14	20,447,283 (GRCm39)	missense	probably damaging	0.99
IGL03354:Cfap70	APN	14	20,482,050 (GRCm39)	missense	probably damaging	1.00
IGL03047:Cfap70	UTSW	14	20,498,646 (GRCm39)	missense	possibly damaging	0.92
IGL03097:Cfap70	UTSW	14	20,498,676 (GRCm39)	missense	probably benign	0.00
P0008:Cfap70	UTSW	14	20,466,600 (GRCm39)	missense	probably damaging	0.99
R0200:Cfap70	UTSW	14	20,498,631 (GRCm39)	missense	probably damaging	0.96
R0207:Cfap70	UTSW	14	20,462,415 (GRCm39)	missense	probably damaging	1.00
R0238:Cfap70	UTSW	14	20,498,673 (GRCm39)	missense	probably benign	0.01
R0238:Cfap70	UTSW	14	20,498,673 (GRCm39)	missense	probably benign	0.01
R0239:Cfap70	UTSW	14	20,498,673 (GRCm39)	missense	probably benign	0.01
R0239:Cfap70	UTSW	14	20,498,673 (GRCm39)	missense	probably benign	0.01
R0463:Cfap70	UTSW	14	20,498,631 (GRCm39)	missense	probably damaging	0.96
R0608:Cfap70	UTSW	14	20,498,631 (GRCm39)	missense	probably damaging	0.96
R0703:Cfap70	UTSW	14	20,489,783 (GRCm39)	missense	probably damaging	1.00
R0919:Cfap70	UTSW	14	20,454,232 (GRCm39)	missense	probably benign	0.00
R0928:Cfap70	UTSW	14	20,493,987 (GRCm39)	missense	probably damaging	1.00
R1595:Cfap70	UTSW	14	20,497,604 (GRCm39)	missense	probably benign	0.10
R1667:Cfap70	UTSW	14	20,454,225 (GRCm39)	missense	probably benign	0.41
R1799:Cfap70	UTSW	14	20,445,067 (GRCm39)	missense	probably damaging	1.00
R1869:Cfap70	UTSW	14	20,458,678 (GRCm39)	nonsense	probably null
R1920:Cfap70	UTSW	14	20,445,020 (GRCm39)	missense	probably damaging	1.00
R1968:Cfap70	UTSW	14	20,470,879 (GRCm39)	missense	possibly damaging	0.93
R2173:Cfap70	UTSW	14	20,458,630 (GRCm39)	missense	probably benign	0.00
R3081:Cfap70	UTSW	14	20,470,830 (GRCm39)	missense	probably damaging	1.00
R3813:Cfap70	UTSW	14	20,471,190 (GRCm39)	missense	possibly damaging	0.95
R3979:Cfap70	UTSW	14	20,489,787 (GRCm39)	missense	probably benign	0.11
R4093:Cfap70	UTSW	14	20,459,181 (GRCm39)	missense	probably damaging	1.00
R4271:Cfap70	UTSW	14	20,470,793 (GRCm39)	missense	probably benign	0.00
R4604:Cfap70	UTSW	14	20,493,729 (GRCm39)	missense	probably benign	0.01
R4839:Cfap70	UTSW	14	20,475,597 (GRCm39)	missense	probably damaging	0.96
R6387:Cfap70	UTSW	14	20,498,643 (GRCm39)	missense	probably damaging	1.00
R6464:Cfap70	UTSW	14	20,451,107 (GRCm39)	splice site	probably null
R6915:Cfap70	UTSW	14	20,459,153 (GRCm39)	missense	probably benign	0.17
R7317:Cfap70	UTSW	14	20,450,502 (GRCm39)	missense	possibly damaging	0.78
R7400:Cfap70	UTSW	14	20,458,335 (GRCm39)	missense	probably benign
R7962:Cfap70	UTSW	14	20,486,854 (GRCm39)	missense	probably benign	0.00
R7974:Cfap70	UTSW	14	20,470,818 (GRCm39)	missense	probably damaging	0.99
R7996:Cfap70	UTSW	14	20,459,194 (GRCm39)	missense	probably benign	0.02
R8897:Cfap70	UTSW	14	20,493,669 (GRCm39)	critical splice donor site	probably null
R9116:Cfap70	UTSW	14	20,497,590 (GRCm39)	missense	probably benign	0.01
R9174:Cfap70	UTSW	14	20,493,706 (GRCm39)	missense	probably damaging	1.00
R9649:Cfap70	UTSW	14	20,450,546 (GRCm39)	missense	probably damaging	0.99
R9667:Cfap70	UTSW	14	20,490,690 (GRCm39)	critical splice donor site	probably null

Posted On

2012-10-29