Mutagenetix > Incidental Mutations

Incidental Mutation 'R7116:Cfap74'

551760

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 #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155409190-155466823 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155455061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 948 (F948L)

Ref Sequence

ENSEMBL: ENSMUSP00000123626 (fasta)

Gene Model

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

AlphaFold

Q3UY96

Predicted Effect

probably benign
Transcript: ENSMUST00000105619

Predicted Effect

unknown
Transcript: ENSMUST00000151083
AA Change: F948L

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: F948L

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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	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
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
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'- CAGTGGCTGAGAACGTTCTTTG -3'
(R):5'- GGAAGTCTGCAGCTCTTTTG -3'

Sequencing Primer
(F):5'- GAGAACGTTCTTTGCCTTCCAAATC -3'
(R):5'- CAGCTCTTTTGGGTGTACCTTACAG -3'

Posted On

2019-05-15