Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Cfap70'

59253

Institutional Source

Beutler Lab

Gene Symbol

Cfap70

Ensembl Gene

ENSMUSG00000039543

Gene Name

cilia and flagella associated protein 70

Synonyms

5330402L21Rik, Ttc18

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

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

Stock #

R0239 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

20444261-20502294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 20498673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 5 (S5A)

Ref Sequence

ENSEMBL: ENSMUSP00000056869 (fasta)

Gene Model

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

AlphaFold

D3YVL2

Predicted Effect

probably benign
Transcript: ENSMUST00000022348
AA Change: S5A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: S5A

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: S5A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: S5A

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: S5A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: S5A

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: S5A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: S5A

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 benign
Transcript: ENSMUST00000151077
AA Change: S5A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119023
Gene: ENSMUSG00000039543
AA Change: S5A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (81/83)

Allele List at MGI

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

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Greb1l	C	T	18: 10,458,567 (GRCm39)		probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Klc1	A	G	12: 111,751,758 (GRCm39)		probably benign	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mrrf	T	C	2: 36,067,293 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Raet1c	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Scgb1b2	T	A	7: 30,991,155 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc49a3	G	T	5: 108,591,882 (GRCm39)		probably benign	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	probably damaging	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
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

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