Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Cfap74'

549268

Institutional Source

Beutler Lab

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: isoform 1: NM_177674.5; isoform 2: NM_001166029.1; MGI: 1917130

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155409190-155466823 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155455677 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 977 (I977S)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105619] [ENSMUST00000151083]

Predicted Effect

probably benign
Transcript: ENSMUST00000105619

Predicted Effect

unknown
Transcript: ENSMUST00000151083
AA Change: I977S

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: I977S

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
coiled coil region	134	162	N/A	INTRINSIC
coiled coil region	333	378	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

All alleles(7) : Targeted(2) Gene trapped(5)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Cfap74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Cfap74	APN	4	155418986	missense	possibly damaging	0.95
paranoid	UTSW	4	155454024	utr 5 prime	probably benign
sensibile	UTSW	4	155441286	missense	probably null	0.03
touchy	UTSW	4	155463072	missense	probably benign	0.27
FR4304:Cfap74	UTSW	4	155415760	missense	possibly damaging	0.93
P0007:Cfap74	UTSW	4	155422228	missense	possibly damaging	0.83
PIT4434001:Cfap74	UTSW	4	155463964	missense	unknown
R0025:Cfap74	UTSW	4	155426115	missense	probably benign	0.22
R0034:Cfap74	UTSW	4	155460887	splice site	probably benign
R0193:Cfap74	UTSW	4	155426115	missense	probably benign	0.22
R0306:Cfap74	UTSW	4	155465439	unclassified	probably benign
R0427:Cfap74	UTSW	4	155441277	missense	probably benign	0.02
R0905:Cfap74	UTSW	4	155418696	critical splice donor site	probably null
R1116:Cfap74	UTSW	4	155433996	missense	probably benign	0.15
R1548:Cfap74	UTSW	4	155434045	missense	probably benign	0.45
R1950:Cfap74	UTSW	4	155427430	critical splice donor site	probably null
R2009:Cfap74	UTSW	4	155420267	missense	possibly damaging	0.77
R2029:Cfap74	UTSW	4	155442081	missense	possibly damaging	0.74
R2135:Cfap74	UTSW	4	155429940	missense	probably damaging	0.97
R2135:Cfap74	UTSW	4	155429951	missense	probably damaging	1.00
R2154:Cfap74	UTSW	4	155429296	missense	possibly damaging	0.94
R2413:Cfap74	UTSW	4	155418624	missense	possibly damaging	0.76
R2418:Cfap74	UTSW	4	155455709	utr 5 prime	probably benign
R2930:Cfap74	UTSW	4	155438170	missense	probably damaging	0.97
R3965:Cfap74	UTSW	4	155446717	missense	probably damaging	1.00
R4078:Cfap74	UTSW	4	155455671	missense	probably damaging	0.98
R4238:Cfap74	UTSW	4	155463072	missense	probably benign	0.27
R4239:Cfap74	UTSW	4	155463072	missense	probably benign	0.27
R4240:Cfap74	UTSW	4	155463072	missense	probably benign	0.27
R4491:Cfap74	UTSW	4	155429171	missense	probably benign	0.22
R4731:Cfap74	UTSW	4	155463602	intron	probably benign
R5333:Cfap74	UTSW	4	155436740	missense	probably damaging	0.99
R5362:Cfap74	UTSW	4	155438166	missense	probably damaging	0.98
R5425:Cfap74	UTSW	4	155455692	utr 5 prime	probably benign
R5468:Cfap74	UTSW	4	155426041	missense	probably benign	0.27
R5839:Cfap74	UTSW	4	155422750	critical splice donor site	probably null
R6010:Cfap74	UTSW	4	155454038	missense	possibly damaging	0.83
R6284:Cfap74	UTSW	4	155451796	missense	probably damaging	0.96
R6323:Cfap74	UTSW	4	155463938	missense	possibly damaging	0.54
R6389:Cfap74	UTSW	4	155423336	missense	possibly damaging	0.69
R6513:Cfap74	UTSW	4	155441286	missense	probably null	0.03
R6527:Cfap74	UTSW	4	155422265	unclassified	probably null
R6785:Cfap74	UTSW	4	155454024	utr 5 prime	probably benign
R6980:Cfap74	UTSW	4	155466352	unclassified	probably benign
R7039:Cfap74	UTSW	4	155454108	critical splice donor site	probably null
R7116:Cfap74	UTSW	4	155455061	missense	unknown
R7202:Cfap74	UTSW	4	155426197	splice site	probably null
R7227:Cfap74	UTSW	4	155460948	nonsense	probably null
R7228:Cfap74	UTSW	4	155465050	missense	unknown
R7261:Cfap74	UTSW	4	155465374	missense	unknown
R7315:Cfap74	UTSW	4	155463019	missense	unknown
R7337:Cfap74	UTSW	4	155460015	missense	unknown
R7354:Cfap74	UTSW	4	155465347	missense	unknown
R7533:Cfap74	UTSW	4	155415743	missense
R7673:Cfap74	UTSW	4	155463056	missense	unknown
R7798:Cfap74	UTSW	4	155422622	missense
R7829:Cfap74	UTSW	4	155429237	missense
R7897:Cfap74	UTSW	4	155429894	missense
R7980:Cfap74	UTSW	4	155429894	missense
T0970:Cfap74	UTSW	4	155463117	splice site	probably null
X0066:Cfap74	UTSW	4	155463964	missense	probably damaging	1.00
Z1176:Cfap74	UTSW	4	155426118
Z1177:Cfap74	UTSW	4	155454913

Predicted Primers

PCR Primer
(F):5'- TTGAGCACTCACTCACGCATG -3'
(R):5'- CTGTCTATTCCAGCCCTGAG -3'

Sequencing Primer
(F):5'- TCACGCATGCACACTCGTG -3'
(R):5'- TATTCCAGCCCTGAGGTCAG -3'

Posted On

2019-05-15