Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Cfap70'

33421

Institutional Source

Beutler Lab

Gene Symbol

Cfap70

Ensembl Gene

ENSMUSG00000039543

Gene Name

cilia and flagella associated protein 70

Synonyms

5330402L21Rik, Ttc18

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

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

Stock #

R0207 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

20444261-20502294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20462415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 659 (E659D)

Ref Sequence

ENSEMBL: ENSMUSP00000056869 (fasta)

Gene Model

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

AlphaFold

D3YVL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022348
AA Change: E615D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: E615D

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: E603D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: E603D

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: E659D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: E659D

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 damaging
Transcript: ENSMUST00000144797
AA Change: E664D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: E664D

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

Meta Mutation Damage Score

0.1572

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

Allele List at MGI

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

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039 (GRCm39)	F488S	probably damaging	Het
Acap3	C	T	4: 155,983,881 (GRCm39)	R116W	probably damaging	Het
Adamts10	C	A	17: 33,764,364 (GRCm39)	P663T	possibly damaging	Het
Akap12	G	A	10: 4,303,333 (GRCm39)	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Ankzf1	C	A	1: 75,174,948 (GRCm39)	D599E	possibly damaging	Het
Aox1	T	C	1: 58,144,173 (GRCm39)	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 63,083,150 (GRCm39)	Y327H	probably benign	Het
Asxl3	T	A	18: 22,544,553 (GRCm39)		probably benign	Het
Birc6	C	A	17: 74,969,827 (GRCm39)		probably benign	Het
Btaf1	T	A	19: 36,987,048 (GRCm39)	L1714*	probably null	Het
Cacng6	T	A	7: 3,473,520 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,215,146 (GRCm39)	D238G	probably damaging	Het
Celf5	T	A	10: 81,306,532 (GRCm39)	R113W	probably null	Het
Cfap251	T	C	5: 123,421,510 (GRCm39)	V182A	probably damaging	Het
Clspn	T	A	4: 126,484,391 (GRCm39)	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,365,187 (GRCm39)	R275C	probably damaging	Het
Dst	C	T	1: 34,226,016 (GRCm39)	S1721L	probably benign	Het
Faap100	T	C	11: 120,265,191 (GRCm39)	T562A	probably damaging	Het
Fam168b	T	C	1: 34,858,769 (GRCm39)	M133V	probably damaging	Het
Farp2	T	C	1: 93,496,809 (GRCm39)	I172T	probably damaging	Het
Fer	T	G	17: 64,203,273 (GRCm39)	S68A	probably damaging	Het
Fmo5	A	G	3: 97,552,997 (GRCm39)	E315G	probably damaging	Het
Gpr89	A	T	3: 96,778,796 (GRCm39)	F426I	probably damaging	Het
Hinfp	T	C	9: 44,207,624 (GRCm39)	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 192,922,556 (GRCm39)	V167D	probably damaging	Het
Htt	A	G	5: 35,054,252 (GRCm39)	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,833,821 (GRCm39)	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,082,551 (GRCm39)	M344L	probably benign	Het
Itch	A	T	2: 155,044,177 (GRCm39)	Q494L	probably benign	Het
Itga9	T	C	9: 118,598,321 (GRCm39)		probably benign	Het
Jaml	T	A	9: 45,005,065 (GRCm39)	D152E	probably benign	Het
Kif22	A	C	7: 126,641,572 (GRCm39)	M1R	probably null	Het
Kifap3	T	C	1: 163,710,955 (GRCm39)	Y663H	probably benign	Het
Letm2	T	A	8: 26,068,786 (GRCm39)	N472I	probably damaging	Het
Mthfr	T	G	4: 148,136,681 (GRCm39)	V446G	probably damaging	Het
Myh11	T	C	16: 14,029,124 (GRCm39)	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,195,338 (GRCm39)	V903I	probably damaging	Het
Myo9b	C	T	8: 71,807,869 (GRCm39)		probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nsd3	A	G	8: 26,173,273 (GRCm39)	N859S	probably benign	Het
Nucb2	C	A	7: 116,135,245 (GRCm39)	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,063,994 (GRCm39)		probably null	Het
Or10al3	C	A	17: 38,011,949 (GRCm39)	C129*	probably null	Het
Or1e22	A	T	11: 73,377,401 (GRCm39)	L83Q	probably benign	Het
Or1i2	T	C	10: 78,447,705 (GRCm39)	T257A	probably benign	Het
Or4a74	G	A	2: 89,440,207 (GRCm39)	L80F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp10	C	T	15: 76,126,833 (GRCm39)	S145N	probably benign	Het
Pigh	A	G	12: 79,130,483 (GRCm39)		probably benign	Het
Pigo	A	G	4: 43,023,824 (GRCm39)		probably benign	Het
Pkp4	T	A	2: 59,135,832 (GRCm39)	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143 (GRCm39)		probably null	Het
Ppfia3	C	A	7: 44,997,958 (GRCm39)	R723L	probably damaging	Het
Prex1	C	A	2: 166,427,818 (GRCm39)	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,472,801 (GRCm39)	V457E	probably damaging	Het
Rab39	A	G	9: 53,617,271 (GRCm39)	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,615,987 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,204,722 (GRCm39)	D8G	probably benign	Het
Slc17a6	A	G	7: 51,295,928 (GRCm39)		probably benign	Het
Slc24a4	T	A	12: 102,195,210 (GRCm39)		probably null	Het
Smc1b	C	T	15: 85,007,960 (GRCm39)	M272I	probably benign	Het
Smc6	T	C	12: 11,333,179 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,739,286 (GRCm39)	T722A	probably benign	Het
Tesmin	A	T	19: 3,454,088 (GRCm39)	M141L	probably benign	Het
Tmprss5	T	A	9: 49,024,460 (GRCm39)	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,976,477 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,293,178 (GRCm39)	S868P	possibly damaging	Het
Trank1	C	T	9: 111,195,321 (GRCm39)	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,730,261 (GRCm39)	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,668,611 (GRCm39)	V1037E	probably benign	Het
Usp43	A	G	11: 67,767,325 (GRCm39)	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,106,502 (GRCm39)	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,311,014 (GRCm39)	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,832,052 (GRCm39)	V246I	probably benign	Het
Wiz	C	T	17: 32,576,007 (GRCm39)	G790R	probably damaging	Het
Wnk1	A	T	6: 119,929,694 (GRCm39)	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,288,109 (GRCm39)	L909S	probably benign	Het
Zfp236	T	A	18: 82,658,352 (GRCm39)	I637F	probably damaging	Het
Zfp788	G	A	7: 41,299,020 (GRCm39)	G532D	probably damaging	Het
Zranb1	T	C	7: 132,552,114 (GRCm39)	I255T	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
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

Predicted Primers

PCR Primer
(F):5'- GGGGAGGGAGAAAGATAAATAACAAAACCGAA -3'
(R):5'- CATGcacacacacacacacacacac -3'

Sequencing Primer
(F):5'- tcaggaggcagaggcgg -3'
(R):5'- cacacacacacacacacatac -3'

Posted On

2013-05-09