Mutagenetix > Incidental Mutations

Incidental Mutation 'R6284:Cfap74'

508100

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 #

R6284 (G1)

Quality Score

197.009

Status

Validated

Chromosome

Chromosomal Location

155409190-155466823 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155451796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 863 (F863L)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

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

AlphaFold

Q3UY96

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050128

Predicted Effect

probably benign
Transcript: ENSMUST00000105619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135407

Predicted Effect

probably damaging
Transcript: ENSMUST00000151083
AA Change: F863L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: F863L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165947

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

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

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Cul5	G	A	9: 53,623,735	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491		probably null	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503	L446Q	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
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	splice site	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
R7077:Cfap74	UTSW	4	155455677	missense	unknown
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
R8099:Cfap74	UTSW	4	155455032	missense	unknown
R8126:Cfap74	UTSW	4	155427374	missense
R8769:Cfap74	UTSW	4	155418648	missense
R8873:Cfap74	UTSW	4	155455008	missense	unknown
R8893:Cfap74	UTSW	4	155446695	missense	unknown
R8900:Cfap74	UTSW	4	155436730	missense
R8954:Cfap74	UTSW	4	155436730	missense
R8957:Cfap74	UTSW	4	155436730	missense
R8982:Cfap74	UTSW	4	155436730	missense
R9008:Cfap74	UTSW	4	155418664	missense
R9406:Cfap74	UTSW	4	155426169	nonsense	probably null
T0970:Cfap74	UTSW	4	155463117	splice site	probably null
X0066:Cfap74	UTSW	4	155463964	missense	probably damaging	1.00
Z1176:Cfap74	UTSW	4	155426118	missense
Z1177:Cfap74	UTSW	4	155454913	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ATATGTGCACTGCCTACTGC -3'
(R):5'- GTTCAGGTCATGACGCAGAG -3'

Sequencing Primer
(F):5'- ACACCTGTTCTGTCATTACAAATACC -3'
(R):5'- TCATGACGCAGAGCCTCAG -3'

Posted On

2018-03-15