Mutagenetix > Incidental Mutation

Incidental Mutation 'R7614:Cfap276'

588755

Institutional Source

Beutler Lab

Gene Symbol

Cfap276

Ensembl Gene

ENSMUSG00000027886

Gene Name

cilia and flagella associated protein 276

Synonyms

1700013F07Rik

MMRRC Submission

045682-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7614 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108444900-108452013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108449848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 42 (D42E)

Ref Sequence

ENSEMBL: ENSMUSP00000029485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029485]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029485
AA Change: D42E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029485
Gene: ENSMUSG00000027886
AA Change: D42E

Domain	Start	End	E-Value	Type
Pfam:DUF3695	29	128	1.5e-33	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,464,429 (GRCm39)	T535A	possibly damaging	Het
Adcy9	A	T	16: 4,236,088 (GRCm39)	L441Q	probably damaging	Het
Adgrv1	A	T	13: 81,668,780 (GRCm39)	V2592E	probably damaging	Het
Ahdc1	A	G	4: 132,790,825 (GRCm39)	S689G	probably benign	Het
Ankrd24	G	A	10: 81,474,523 (GRCm39)	G229E	unknown	Het
Ankrd34c	T	A	9: 89,610,914 (GRCm39)	I476F	probably damaging	Het
Arhgef19	A	G	4: 140,984,090 (GRCm39)	H770R	possibly damaging	Het
Arhgef4	T	G	1: 34,771,316 (GRCm39)	S1208A	possibly damaging	Het
Arid1a	A	T	4: 133,418,466 (GRCm39)	M654K	unknown	Het
Atp11b	T	A	3: 35,864,259 (GRCm39)		probably null	Het
Cadps	A	G	14: 12,454,260 (GRCm38)	I1086T	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cntn3	T	C	6: 102,142,337 (GRCm39)	H1010R	probably benign	Het
Cyp2c66	T	A	19: 39,159,472 (GRCm39)	Y308N	probably damaging	Het
Dok6	T	A	18: 89,492,067 (GRCm39)	H170L	probably damaging	Het
Eefsec	C	T	6: 88,258,576 (GRCm39)	D506N	possibly damaging	Het
Fam181a	C	T	12: 103,282,805 (GRCm39)	P237S	probably damaging	Het
Fam186b	T	C	15: 99,184,867 (GRCm39)	I19V	probably damaging	Het
Gm3285	A	T	10: 77,697,865 (GRCm39)	T5S	unknown	Het
Heg1	A	G	16: 33,547,733 (GRCm39)	E864G	probably benign	Het
Herc2	T	A	7: 55,803,023 (GRCm39)	L2124*	probably null	Het
Hexa	T	C	9: 59,469,230 (GRCm39)	S331P	probably damaging	Het
Hspb1	A	T	5: 135,917,223 (GRCm39)	D104V	probably damaging	Het
Ikzf1	A	T	11: 11,719,019 (GRCm39)	Q329L	probably damaging	Het
Kcnf1	C	A	12: 17,224,787 (GRCm39)	R478L	probably benign	Het
Kdm3a	T	C	6: 71,568,937 (GRCm39)	T1161A	possibly damaging	Het
Krtap31-2	T	C	11: 99,827,429 (GRCm39)	I87T	possibly damaging	Het
Lars2	T	C	9: 123,224,176 (GRCm39)	S116P		Het
Lrrk2	A	G	15: 91,657,061 (GRCm39)	D1785G	probably damaging	Het
Myo10	A	G	15: 25,701,709 (GRCm39)	H61R	probably benign	Het
Or10x4	T	G	1: 174,219,220 (GRCm39)	F195C	probably damaging	Het
Or9s13	A	G	1: 92,548,183 (GRCm39)	Y185C	probably damaging	Het
Pcdhb4	C	A	18: 37,442,602 (GRCm39)	H637Q	probably benign	Het
Pcsk9	T	A	4: 106,304,763 (GRCm39)	D435V	probably benign	Het
Prickle2	T	A	6: 92,402,631 (GRCm39)	Y119F	possibly damaging	Het
Prr5	A	G	15: 84,641,276 (GRCm39)	T181A	probably benign	Het
Psd	T	A	19: 46,301,877 (GRCm39)	Q903L	probably damaging	Het
Ptpn13	T	A	5: 103,649,331 (GRCm39)	S245T	probably benign	Het
Resp18	T	C	1: 75,254,882 (GRCm39)	S24G	probably damaging	Het
Slc17a4	T	C	13: 24,090,580 (GRCm39)	T89A	probably benign	Het
Slc9a9	A	G	9: 94,737,792 (GRCm39)	Y233C	probably damaging	Het
Slit1	T	A	19: 41,622,639 (GRCm39)	I707F	probably damaging	Het
Sp4	T	C	12: 118,218,174 (GRCm39)	E691G	possibly damaging	Het
Sun2	G	T	15: 79,623,225 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,912,901 (GRCm39)	T723A	not run	Het
Tcp1	T	A	17: 13,141,540 (GRCm39)	F340I	possibly damaging	Het
Tmem39b	A	T	4: 129,587,694 (GRCm39)	V39D	probably damaging	Het
Tmtc3	A	T	10: 100,286,214 (GRCm39)	Y536*	probably null	Het
Tnfrsf11a	A	T	1: 105,755,094 (GRCm39)	T389S	probably damaging	Het
Ttn	T	C	2: 76,598,873 (GRCm39)	T19347A	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,553 (GRCm39)	S182P	probably benign	Het
Vmn2r95	A	G	17: 18,660,352 (GRCm39)	T255A	probably benign	Het
Wdr59	T	C	8: 112,219,394 (GRCm39)	Y221C		Het

Other mutations in Cfap276

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Cfap276	APN	3	108,444,951 (GRCm39)	missense	possibly damaging	0.49
R1450:Cfap276	UTSW	3	108,449,799 (GRCm39)	splice site	probably null
R2275:Cfap276	UTSW	3	108,449,819 (GRCm39)	missense	possibly damaging	0.94
R7388:Cfap276	UTSW	3	108,450,815 (GRCm39)	missense	possibly damaging	0.87
R7397:Cfap276	UTSW	3	108,450,864 (GRCm39)	missense	probably benign	0.33
R8444:Cfap276	UTSW	3	108,451,384 (GRCm39)	missense	probably benign	0.25
R9326:Cfap276	UTSW	3	108,451,931 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCCACTTCAATGATTTCTCAC -3'
(R):5'- TGCTGAGGCACTTCAGACTATC -3'

Sequencing Primer
(F):5'- TCACTCAGAGAGCTCAGGGAGTC -3'
(R):5'- TTGGCCATGTAGCAAGACTC -3'

Posted On

2019-10-24