Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Cfap70'

54434

Institutional Source

Beutler Lab

Gene Symbol

Cfap70

Ensembl Gene

ENSMUSG00000039543

Gene Name

cilia and flagella associated protein 70

Synonyms

5330402L21Rik, Ttc18

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0608 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

20444261-20502294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20498631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 19 (Y19N)

Ref Sequence

ENSEMBL: ENSMUSP00000022349 (fasta)

Gene Model

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

AlphaFold

D3YVL2

Predicted Effect

probably benign
Transcript: ENSMUST00000022348
AA Change: Y19N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: Y19N

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: Y19N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: Y19N

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: Y19N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: Y19N

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 benign
Transcript: ENSMUST00000144797
AA Change: Y19N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: Y19N

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

possibly damaging
Transcript: ENSMUST00000151077
AA Change: Y19N

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119023
Gene: ENSMUSG00000039543
AA Change: Y19N

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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ampd3	C	A	7: 110,394,997 (GRCm39)	D315E	probably damaging	Het
Ampd3	T	A	7: 110,394,998 (GRCm39)	F316I	probably damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,100,588 (GRCm39)		probably null	Het
Bckdhb	T	G	9: 83,835,789 (GRCm39)	F98V	probably damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,100,699 (GRCm39)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cep128	T	G	12: 90,966,309 (GRCm39)		probably benign	Het
Cep72	A	T	13: 74,186,423 (GRCm39)	H249Q	probably damaging	Het
Col11a1	T	C	3: 114,012,364 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah17	G	T	11: 117,981,575 (GRCm39)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,225,836 (GRCm39)	E383G	possibly damaging	Het
Dst	C	A	1: 34,329,437 (GRCm39)		probably null	Het
Edil3	T	C	13: 89,332,968 (GRCm39)	S375P	probably damaging	Het
Eme1	A	G	11: 94,540,908 (GRCm39)	C277R	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,420,953 (GRCm39)	V341M	probably benign	Het
Fgf14	A	G	14: 124,914,015 (GRCm39)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,631,220 (GRCm39)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,830,240 (GRCm39)	D265E	probably benign	Het
Gml2	T	C	15: 74,693,235 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,736,692 (GRCm39)	E1980*	probably null	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Heca	T	C	10: 17,791,039 (GRCm39)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm39)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,733,678 (GRCm39)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,597,030 (GRCm39)	G252D	probably benign	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,924,137 (GRCm39)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,316,587 (GRCm39)	N2131K	probably benign	Het
Magi3	C	G	3: 103,924,873 (GRCm39)	G1092A	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mrps26	G	T	2: 130,405,778 (GRCm39)	R27L	possibly damaging	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,344,908 (GRCm39)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Neb	A	T	2: 52,216,769 (GRCm39)	D135E	probably benign	Het
Nlrp6	C	T	7: 140,503,399 (GRCm39)	Q502*	probably null	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Obi1	T	C	14: 104,716,963 (GRCm39)	Y470C	probably damaging	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,330,246 (GRCm39)	P48L	probably benign	Het
Rab44	T	A	17: 29,366,317 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,329,720 (GRCm39)	I3031T	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 98,998,601 (GRCm39)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,799,346 (GRCm39)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spire1	T	C	18: 67,661,945 (GRCm39)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Susd2	C	T	10: 75,474,069 (GRCm39)	A509T	probably benign	Het
Sycp2	A	G	2: 178,024,197 (GRCm39)	F396L	probably damaging	Het
Syne2	T	C	12: 76,010,587 (GRCm39)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tab2	C	T	10: 7,795,883 (GRCm39)	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,148,317 (GRCm39)	T363A	probably damaging	Het
Terb2	A	G	2: 122,016,816 (GRCm39)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,510,552 (GRCm39)	E137G	probably benign	Het
Trim30d	T	A	7: 104,121,692 (GRCm39)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,054,669 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,617,667 (GRCm39)	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,626,529 (GRCm39)		probably null	Het
Ubap2	T	A	4: 41,218,319 (GRCm39)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,886,138 (GRCm39)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,965,615 (GRCm39)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,180,867 (GRCm39)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,297,705 (GRCm39)	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,629,078 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACTCGCAGAGTACAGACTACCAC -3'
(R):5'- TGGGACATAATCTTGGAAGGGAGCC -3'

Sequencing Primer
(F):5'- CCACGGAACACCTTGAGAAG -3'
(R):5'- ACCACTTATGTGTTGAGGGAC -3'

Posted On

2013-07-11