Mutagenetix > Incidental Mutations

Incidental Mutation 'R0928:Cfap70'

80686

Institutional Source

Beutler Lab

Gene Symbol

Cfap70

Ensembl Gene

ENSMUSG00000039543

Gene Name

cilia and flagella associated protein 70

Synonyms

5330402L21Rik, Ttc18

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: 0.092) question?

Stock #

R0928 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20394193-20452226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20443919 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 97 (K97N)

Ref Sequence

ENSEMBL: ENSMUSP00000022348 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022348
AA Change: K97N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: K97N

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 damaging
Transcript: ENSMUST00000022349
AA Change: K97N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: K97N

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 damaging
Transcript: ENSMUST00000056073
AA Change: K97N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: K97N

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

noncoding transcript
Transcript: ENSMUST00000143940

Predicted Effect

probably damaging
Transcript: ENSMUST00000144797
AA Change: K97N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: K97N

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

probably damaging
Transcript: ENSMUST00000151077
AA Change: K97N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119023
Gene: ENSMUSG00000039543
AA Change: K97N

Domain	Start	End	E-Value	Type
Blast:C2	11	122	8e-48	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 93.0%
20x: 75.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,624,582	D745G	possibly damaging	Het
4931406P16Rik	A	T	7: 34,248,246		probably null	Het
Abca12	T	A	1: 71,349,174	D179V	probably benign	Het
Abcc1	T	C	16: 14,389,985		probably null	Het
Adad1	G	A	3: 37,076,740		probably null	Het
Apobec4	T	C	1: 152,756,277	Y19H	probably damaging	Het
Bco2	T	A	9: 50,545,931	T104S	probably damaging	Het
Bnc1	A	G	7: 81,973,502	V659A	probably benign	Het
Ccdc144b	A	C	3: 36,025,366	N258K	possibly damaging	Het
Ccs	T	C	19: 4,825,960	E184G	probably damaging	Het
Daam2	T	C	17: 49,488,227	I313V	probably benign	Het
Dach1	T	C	14: 97,915,832	S467G	probably damaging	Het
Dnah11	A	G	12: 118,045,562	S2122P	probably damaging	Het
Dnah3	T	A	7: 120,030,051	D1427V	probably damaging	Het
Dnaic1	T	C	4: 41,602,566	F97L	possibly damaging	Het
Dsc1	A	T	18: 20,110,249		probably null	Het
En2	A	T	5: 28,170,331	K291*	probably null	Het
Eps15	T	C	4: 109,312,963	V154A	possibly damaging	Het
Etnk1	A	G	6: 143,184,703	I183V	probably benign	Het
Fcrlb	A	T	1: 170,907,940	V255D	possibly damaging	Het
Fry	A	T	5: 150,437,084	E52V	probably damaging	Het
Gm8251	C	A	1: 44,057,228	S1570I	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,885	Y152C	probably damaging	Het
Hao1	C	A	2: 134,505,616	L256F	possibly damaging	Het
Helz	T	A	11: 107,626,693	I685K	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Izumo2	A	T	7: 44,715,423	I171F	possibly damaging	Het
Krt83	C	A	15: 101,491,280	C57F	probably benign	Het
Mapkbp1	A	G	2: 120,015,368	H400R	probably benign	Het
Megf6	T	A	4: 154,177,047	V43E	probably damaging	Het
Mut	T	C	17: 40,937,283	I67T	probably benign	Het
Ninl	A	T	2: 150,963,475	V396E	probably damaging	Het
Nvl	A	T	1: 181,093,902	V844E	probably benign	Het
Olfr11	C	T	13: 21,638,956	C189Y	probably damaging	Het
P2rx3	A	T	2: 85,035,298	M1K	probably null	Het
Pabpn1l	T	C	8: 122,622,619	T20A	probably benign	Het
Ppp3r2	C	A	4: 49,681,439		probably null	Het
Prmt6	C	T	3: 110,250,682	G97D	probably damaging	Het
Prmt9	T	C	8: 77,581,176	V823A	probably damaging	Het
Skint11	C	A	4: 114,244,601	D79E	possibly damaging	Het
Slc17a8	T	A	10: 89,598,683	H194L	probably damaging	Het
Slco6c1	T	A	1: 97,104,848	I293F	possibly damaging	Het
Tcl1b4	A	T	12: 105,202,606	H43L	probably benign	Het
Tm9sf1	T	C	14: 55,636,457	D528G	probably damaging	Het
Tpbpb	C	T	13: 60,902,175	V47I	probably benign	Het
Ttc37	T	G	13: 76,113,592	L142W	probably damaging	Het
Ttn	G	T	2: 76,907,532		probably benign	Het
Usp28	T	G	9: 49,030,891	S341A	possibly damaging	Het
Vwa5a	T	C	9: 38,728,007	Y345H	probably damaging	Het
Wdr11	C	A	7: 129,606,653	D377E	probably damaging	Het
Zer1	A	G	2: 30,101,763		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
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
R6915:Cfap70	UTSW	14	20409085	missense	probably benign	0.17
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

Predicted Primers

PCR Primer
(F):5'- CCTGTAAGGTCAAGTTGAGCCAGAG -3'
(R):5'- CCTGGAATCTGAAGCCTCAAGCAAG -3'

Sequencing Primer
(F):5'- ATGGCACAGTCATGTCTTCATC -3'
(R):5'- GCCTCAAGCAAGCGTTC -3'

Posted On

2013-11-07