Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Cfap70'

539303

Institutional Source

Beutler Lab

Gene Symbol

Cfap70

Ensembl Gene

ENSMUSG00000039543

Gene Name

cilia and flagella associated protein 70

Synonyms

5330402L21Rik, Ttc18

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_001163638.1, NM_001163639.1, NM_029698.1; MGI: 1923920

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20394193-20452226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20409085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 693 (I693F)

Ref Sequence

ENSEMBL: ENSMUSP00000022348 (fasta)

Gene Model

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

AlphaFold

D3YVL2

Predicted Effect

probably benign
Transcript: ENSMUST00000022348
AA Change: I693F

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: I693F

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: I681F

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: I681F

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: I737F

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: I737F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212	Q183*	probably null	Het
Atp8b4	A	T	2: 126,358,914	L778*	probably null	Het
BC024139	G	T	15: 76,120,021	N739K	probably benign	Het
Carns1	T	G	19: 4,169,913	H441P	probably benign	Het
Cldn3	A	G	5: 134,986,572	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,436,068	I269F	probably damaging	Het
Dapk1	A	T	13: 60,696,442	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397		probably null	Het
Dzip3	T	C	16: 48,942,125	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748	V160F	probably benign	Het
Gak	A	T	5: 108,602,950	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119		probably null	Het
Gm21738	A	G	14: 19,415,933	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256		probably null	Het
Muc4	T	C	16: 32,766,938	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057		probably benign	Het
Olfr1428	A	G	19: 12,109,126	V140A	probably benign	Het
Olfr372	C	A	8: 72,057,730	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945	T18M	probably benign	Het
Per3	T	C	4: 151,043,649	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,106,947	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,947,115	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137	N106D	probably damaging	Het
Rbm15	C	A	3: 107,332,311	R257L	probably benign	Het
Rptor	T	G	11: 119,756,345	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,853,851	V379L	possibly damaging	Het
Sox8	C	T	17: 25,567,914	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031	Y738*	probably null	Het

Other mutations in Cfap70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Cfap70	APN	14	20412462	missense	possibly damaging	0.77
IGL00567:Cfap70	APN	14	20394680	missense	probably benign	0.30
IGL00773:Cfap70	APN	14	20447534	missense	probably damaging	1.00
IGL01061:Cfap70	APN	14	20447625	splice site	probably benign
IGL01520:Cfap70	APN	14	20420687	missense	probably benign	0.23
IGL01665:Cfap70	APN	14	20403118	missense	probably damaging	1.00
IGL01918:Cfap70	APN	14	20425399	missense	possibly damaging	0.81
IGL02211:Cfap70	APN	14	20394972	missense	probably damaging	1.00
IGL02613:Cfap70	APN	14	20409064	splice site	probably null
IGL03142:Cfap70	APN	14	20397215	missense	probably damaging	0.99
IGL03354:Cfap70	APN	14	20431982	missense	probably damaging	1.00
IGL03047:Cfap70	UTSW	14	20448578	missense	possibly damaging	0.92
IGL03097:Cfap70	UTSW	14	20448608	missense	probably benign	0.00
P0008:Cfap70	UTSW	14	20416532	missense	probably damaging	0.99
P0035:Cfap70	UTSW	14	20424471	splice site	probably benign
R0200:Cfap70	UTSW	14	20448563	missense	probably damaging	0.96
R0207:Cfap70	UTSW	14	20412347	missense	probably damaging	1.00
R0238:Cfap70	UTSW	14	20448605	missense	probably benign	0.01
R0238:Cfap70	UTSW	14	20448605	missense	probably benign	0.01
R0239:Cfap70	UTSW	14	20448605	missense	probably benign	0.01
R0239:Cfap70	UTSW	14	20448605	missense	probably benign	0.01
R0463:Cfap70	UTSW	14	20448563	missense	probably damaging	0.96
R0608:Cfap70	UTSW	14	20448563	missense	probably damaging	0.96
R0703:Cfap70	UTSW	14	20439715	missense	probably damaging	1.00
R0919:Cfap70	UTSW	14	20404164	missense	probably benign	0.00
R0928:Cfap70	UTSW	14	20443919	missense	probably damaging	1.00
R1595:Cfap70	UTSW	14	20447536	missense	probably benign	0.10
R1667:Cfap70	UTSW	14	20404157	missense	probably benign	0.41
R1799:Cfap70	UTSW	14	20394999	missense	probably damaging	1.00
R1869:Cfap70	UTSW	14	20408610	nonsense	probably null
R1920:Cfap70	UTSW	14	20394952	missense	probably damaging	1.00
R1968:Cfap70	UTSW	14	20420811	missense	possibly damaging	0.93
R2173:Cfap70	UTSW	14	20408562	missense	probably benign	0.00
R3081:Cfap70	UTSW	14	20420762	missense	probably damaging	1.00
R3813:Cfap70	UTSW	14	20421122	missense	possibly damaging	0.95
R3979:Cfap70	UTSW	14	20439719	missense	probably benign	0.11
R4093:Cfap70	UTSW	14	20409113	missense	probably damaging	1.00
R4271:Cfap70	UTSW	14	20420725	missense	probably benign	0.00
R4604:Cfap70	UTSW	14	20443661	missense	probably benign	0.01
R4839:Cfap70	UTSW	14	20425529	missense	probably damaging	0.96
R6387:Cfap70	UTSW	14	20448575	missense	probably damaging	1.00
R6464:Cfap70	UTSW	14	20401039	splice site	probably null
R7317:Cfap70	UTSW	14	20400434	missense	possibly damaging	0.78
R7400:Cfap70	UTSW	14	20408267	missense	probably benign
R7962:Cfap70	UTSW	14	20436786	missense	probably benign	0.00
R7974:Cfap70	UTSW	14	20420750	missense	probably damaging	0.99
R7996:Cfap70	UTSW	14	20409126	missense	probably benign	0.02
R8897:Cfap70	UTSW	14	20443601	critical splice donor site	probably null
R9116:Cfap70	UTSW	14	20447522	missense	probably benign	0.01
R9174:Cfap70	UTSW	14	20443638	missense	probably damaging	1.00
R9649:Cfap70	UTSW	14	20400478	missense	probably damaging	0.99
R9667:Cfap70	UTSW	14	20440622	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGACTTCCCACCATCATAG -3'
(R):5'- GCAACTCGACCTTGTCTTTG -3'

Sequencing Primer
(F):5'- TGGTGGCTCACAACCATC -3'
(R):5'- TGCTCCATTGAAGCACCATGG -3'

Posted On

2018-11-06