Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00567:Cfap70'

332637

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap70

Ensembl Gene

ENSMUSG00000039543

Gene Name

cilia and flagella associated protein 70

Synonyms

5330402L21Rik, Ttc18

Accession Numbers

Essential gene?

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

Stock #

IGL00567

Quality Score

Status

Chromosome

Chromosomal Location

20444261-20502294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20444748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1083 (V1083I)

Ref Sequence

ENSEMBL: ENSMUSP00000022349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073] [ENSMUST00000061444]

AlphaFold

D3YVL2

Predicted Effect

probably benign
Transcript: ENSMUST00000022348
AA Change: V1056I

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: V1056I

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
AA Change: V1083I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: V1083I

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
AA Change: V1100I

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: V1100I

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

probably benign
Transcript: ENSMUST00000061444

SMART Domains

Protein: ENSMUSP00000055619
Gene: ENSMUSG00000049960

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S16	24	84	9.9e-25	PFAM
low complexity region	107	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125558

Predicted Effect

probably benign
Transcript: ENSMUST00000144797
AA Change: V1105I

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: V1105I

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: ENSMUST00000224286

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,990,747 (GRCm39)	N4010K	probably benign	Het
Atm	G	T	9: 53,414,416 (GRCm39)	Y891*	probably null	Het
Col5a2	T	A	1: 45,432,037 (GRCm39)		probably benign	Het
Dsg1c	T	C	18: 20,407,733 (GRCm39)	S360P	probably damaging	Het
Fam162b	C	T	10: 51,466,390 (GRCm39)	G43E	possibly damaging	Het
Gata6	A	G	18: 11,084,330 (GRCm39)	M540V	possibly damaging	Het
Gnl3l	A	T	X: 149,777,242 (GRCm39)		probably null	Het
Mark2	T	C	19: 7,318,549 (GRCm39)	E13G	possibly damaging	Het
Myo16	A	C	8: 10,512,154 (GRCm39)	I778L	probably damaging	Het
Postn	T	C	3: 54,291,944 (GRCm39)	V715A	probably benign	Het
Prl3c1	A	G	13: 27,384,695 (GRCm39)	E68G	possibly damaging	Het
Ptch1	C	A	13: 63,674,989 (GRCm39)	S741I	probably benign	Het
Rbm8a2	T	C	1: 175,806,228 (GRCm39)	E83G	possibly damaging	Het
Scyl2	C	T	10: 89,493,671 (GRCm39)		probably null	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Tgm6	A	G	2: 129,978,415 (GRCm39)	D83G	probably benign	Het
Ube2l6	C	T	2: 84,639,382 (GRCm39)	P115L	possibly damaging	Het
Ugt2b37	A	T	5: 87,401,933 (GRCm39)	W233R	probably damaging	Het
Ush2a	A	G	1: 188,697,114 (GRCm39)	T5191A	probably damaging	Het
Wdfy3	G	T	5: 102,059,896 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,414,539 (GRCm39)		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
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
P0035:Cfap70	UTSW	14	20,474,539 (GRCm39)	splice site	probably benign
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

2015-08-05