Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00481:Cfap300'

4943

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap300

Ensembl Gene

ENSMUSG00000053070

Gene Name

cilia and flagella associated protein 300

Synonyms

9230110C19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL00481

Quality Score

Status

Chromosome

Chromosomal Location

8021673-8042824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8042432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 57 (Y57C)

Ref Sequence

ENSEMBL: ENSMUSP00000149159 (fasta)

Gene Model

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

AlphaFold

Q8CC70

Predicted Effect

probably damaging
Transcript: ENSMUST00000065291
AA Change: Y57C

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

SMART Domains

Protein: ENSMUSP00000063450
Gene: ENSMUSG00000053070
AA Change: Y57C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215478
AA Change: Y57C

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,969 (GRCm39)	L944P	probably damaging	Het
Akap13	A	G	7: 75,373,643 (GRCm39)	S1885G	probably damaging	Het
Aqp3	A	G	4: 41,093,632 (GRCm39)	Y261H	probably damaging	Het
Arap2	A	T	5: 62,793,305 (GRCm39)	N1380K	probably damaging	Het
Barx2	T	C	9: 31,758,141 (GRCm39)	I266V	unknown	Het
BC034090	C	T	1: 155,108,267 (GRCm39)	R360H	probably benign	Het
Bmal2	T	A	6: 146,711,164 (GRCm39)	M56K	probably benign	Het
Ccnb2	T	C	9: 70,326,189 (GRCm39)	K52E	probably damaging	Het
Ccp110	G	A	7: 118,329,220 (GRCm39)	V868I	possibly damaging	Het
Cyld	G	T	8: 89,433,918 (GRCm39)	V236F	probably damaging	Het
Dst	T	C	1: 34,208,410 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,728,830 (GRCm39)	A637E	possibly damaging	Het
Erlin1	G	T	19: 44,057,758 (GRCm39)	Y22*	probably null	Het
Ezh1	A	T	11: 101,090,128 (GRCm39)	M539K	possibly damaging	Het
Fancc	A	T	13: 63,548,059 (GRCm39)	I80N	probably damaging	Het
Fat1	G	A	8: 45,503,977 (GRCm39)	S4447N	probably benign	Het
Fem1al	A	G	11: 29,774,755 (GRCm39)	L234P	probably damaging	Het
Fhip2a	A	G	19: 57,369,777 (GRCm39)	E440G	probably benign	Het
Frem3	A	G	8: 81,395,439 (GRCm39)	Q1822R	possibly damaging	Het
Iqgap1	C	T	7: 80,409,592 (GRCm39)	V248I	probably benign	Het
Itch	T	C	2: 155,054,943 (GRCm39)	I749T	probably damaging	Het
Kcna10	T	A	3: 107,102,830 (GRCm39)	M487K	probably benign	Het
Krt87	A	T	15: 101,386,092 (GRCm39)	L223Q	probably benign	Het
Mtmr2	T	C	9: 13,697,212 (GRCm39)	I84T	probably benign	Het
Myocd	G	A	11: 65,077,980 (GRCm39)	T477M	probably damaging	Het
Nfic	A	T	10: 81,244,054 (GRCm39)	V240E	possibly damaging	Het
Or4d2	A	G	11: 87,784,447 (GRCm39)	I101T	possibly damaging	Het
Prkdc	A	T	16: 15,608,330 (GRCm39)	Y3044F	probably benign	Het
Prkg1	A	G	19: 30,549,022 (GRCm39)	I636T	probably benign	Het
Ptpru	A	G	4: 131,535,546 (GRCm39)	V477A	probably benign	Het
Rab7b	T	A	1: 131,626,329 (GRCm39)	M119K	possibly damaging	Het
Sec61a1	T	C	6: 88,483,922 (GRCm39)		probably benign	Het
Sectm1b	A	G	11: 120,946,799 (GRCm39)	V32A	probably benign	Het
Shroom2	A	G	X: 151,406,219 (GRCm39)	S1034P	probably benign	Het
Sipa1l3	A	T	7: 29,085,533 (GRCm39)	I688N	probably damaging	Het
Slc24a1	T	C	9: 64,835,301 (GRCm39)	Y942C	probably damaging	Het
Smg1	C	T	7: 117,810,017 (GRCm39)	R139K	possibly damaging	Het
Stt3b	G	A	9: 115,080,915 (GRCm39)	T574I	probably benign	Het
Thoc2	A	G	X: 40,968,768 (GRCm39)	I76T	possibly damaging	Het
Tpm3	C	T	3: 89,995,024 (GRCm39)	T180M	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,908 (GRCm39)	V211F	probably benign	Het
Usp47	A	G	7: 111,673,990 (GRCm39)	S418G	probably benign	Het
Usp5	T	C	6: 124,806,316 (GRCm39)	T15A	probably benign	Het
Vps13c	T	C	9: 67,768,147 (GRCm39)	L122P	probably damaging	Het
Zfp677	A	T	17: 21,617,930 (GRCm39)	E329V	probably benign	Het
Zfyve16	A	T	13: 92,653,046 (GRCm39)	N846K	possibly damaging	Het
Zp1	G	T	19: 10,896,141 (GRCm39)	P195T	probably 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
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
R4166: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

Posted On

2012-04-20