Mutagenetix > Incidental Mutation

Incidental Mutation 'R4166:Cfap300'

320584

Institutional Source

Beutler Lab

Gene Symbol

Cfap300

Ensembl Gene

ENSMUSG00000053070

Gene Name

cilia and flagella associated protein 300

Synonyms

9230110C19Rik

MMRRC Submission

041639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8021673-8042824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8026071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 167 (L167Q)

Ref Sequence

ENSEMBL: ENSMUSP00000063450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065291] [ENSMUST00000215478]

AlphaFold

Q8CC70

Predicted Effect

probably damaging
Transcript: ENSMUST00000065291
AA Change: L167Q

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

SMART Domains

Protein: ENSMUSP00000063450
Gene: ENSMUSG00000053070
AA Change: L167Q

Domain	Start	End	E-Value	Type
Pfam:DUF4498	14	259	8.2e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215478

Meta Mutation Damage Score

0.6563

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,912 (GRCm39)	T1018A	possibly damaging	Het
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Ankrd35	T	A	3: 96,586,471 (GRCm39)		probably null	Het
Arhgap20	G	A	9: 51,738,135 (GRCm39)		probably null	Het
Bhmt	T	A	13: 93,762,007 (GRCm39)		probably benign	Het
Cacna1b	C	A	2: 24,567,923 (GRCm39)	R1055L	probably benign	Het
Cdk5r1	A	G	11: 80,369,035 (GRCm39)	Y234C	probably damaging	Het
Cdx2	G	T	5: 147,243,539 (GRCm39)	A85D	possibly damaging	Het
Cenpe	G	A	3: 134,949,479 (GRCm39)	G88D	probably damaging	Het
Dennd5a	A	C	7: 109,526,032 (GRCm39)		probably null	Het
Erich6	G	A	3: 58,526,229 (GRCm39)	A591V	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fbln5	A	G	12: 101,723,618 (GRCm39)	V374A	probably damaging	Het
Fmn1	G	A	2: 113,467,080 (GRCm39)	S1327N	probably benign	Het
Fnip2	A	T	3: 79,369,442 (GRCm39)	V1081E	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gulp1	T	A	1: 44,747,829 (GRCm39)	Y27*	probably null	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Msi2	T	C	11: 88,237,914 (GRCm39)	H346R	probably benign	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Npr3	T	G	15: 11,848,599 (GRCm39)	E202A	probably benign	Het
Nsun4	A	T	4: 115,891,248 (GRCm39)	L377Q	probably damaging	Het
Oog2	A	C	4: 143,921,411 (GRCm39)	H107P	probably damaging	Het
Or14c40	C	A	7: 86,313,602 (GRCm39)	T244N	probably damaging	Het
Otof	A	G	5: 30,539,762 (GRCm39)	L1032P	probably damaging	Het
Pcdh9	T	A	14: 94,124,956 (GRCm39)	R405*	probably null	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prol1	A	T	5: 88,476,530 (GRCm39)	I307F	unknown	Het
Pycr1	T	C	11: 120,532,949 (GRCm39)	I104V	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rb1cc1	T	C	1: 6,335,887 (GRCm39)		probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Skint3	A	G	4: 112,112,832 (GRCm39)	I147M	possibly damaging	Het
Slc22a14	T	G	9: 119,007,498 (GRCm39)	M304L	probably benign	Het
Slc22a14	T	C	9: 119,008,934 (GRCm39)	N178S	possibly damaging	Het
Slc2a1	T	G	4: 118,990,313 (GRCm39)	I179S	probably damaging	Het
Slco2b1	G	T	7: 99,309,333 (GRCm39)	T666N	probably benign	Het
Smap1	T	C	1: 23,887,506 (GRCm39)	M258V	probably benign	Het
Smr3a	A	T	5: 88,156,013 (GRCm39)		probably benign	Het
Stt3b	T	A	9: 115,083,969 (GRCm39)	E402D	probably damaging	Het
Sync	T	C	4: 129,200,535 (GRCm39)		probably benign	Het
Tbx20	T	A	9: 24,681,040 (GRCm39)	I151F	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Trank1	C	A	9: 111,202,592 (GRCm39)	Y1652*	probably null	Het
Trim34a	T	A	7: 103,910,223 (GRCm39)	C342S	probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Zfp146	A	G	7: 29,861,865 (GRCm39)	V59A	possibly damaging	Het

Other mutations in Cfap300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cfap300	APN	9	8,022,433 (GRCm39)	missense	probably benign	0.04
IGL00481:Cfap300	APN	9	8,042,432 (GRCm39)	missense	probably damaging	1.00
R0090:Cfap300	UTSW	9	8,027,184 (GRCm39)	missense	probably benign	0.40
R0725:Cfap300	UTSW	9	8,027,144 (GRCm39)	missense	probably damaging	1.00
R1455:Cfap300	UTSW	9	8,022,457 (GRCm39)	missense	probably benign	0.03
R1735:Cfap300	UTSW	9	8,027,266 (GRCm39)	missense	probably benign	0.01
R2140:Cfap300	UTSW	9	8,022,478 (GRCm39)	missense	probably damaging	1.00
R2966:Cfap300	UTSW	9	8,027,175 (GRCm39)	missense	probably damaging	1.00
R4165:Cfap300	UTSW	9	8,026,071 (GRCm39)	missense	probably damaging	1.00
R4431:Cfap300	UTSW	9	8,027,178 (GRCm39)	missense	probably damaging	1.00
R4899:Cfap300	UTSW	9	8,022,494 (GRCm39)	missense	possibly damaging	0.94
R7797:Cfap300	UTSW	9	8,027,130 (GRCm39)	missense	possibly damaging	0.91
R7979:Cfap300	UTSW	9	8,027,111 (GRCm39)	missense	possibly damaging	0.74
R8061:Cfap300	UTSW	9	8,042,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCAATGCAGTTGCCAATATG -3'
(R):5'- GACTGTGTGATCCCCAGTAC -3'

Sequencing Primer
(F):5'- TGCAGTTGCCAATATGAACATGAGC -3'
(R):5'- TGTGTGATCCCCAGTACACAAAAAG -3'

Posted On

2015-06-12