Mutagenetix > Incidental Mutation

Incidental Mutation 'R7979:Cfap300'

651085

Institutional Source

Beutler Lab

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: 0.083) question?

Stock #

R7979 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8021673-8042824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8027111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 142 (E142D)

Ref Sequence

ENSEMBL: ENSMUSP00000063450 (fasta)

Gene Model

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

AlphaFold

Q8CC70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065291
AA Change: E142D

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000063450
Gene: ENSMUSG00000053070
AA Change: E142D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215478

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,186,804 (GRCm39)		probably null	Het
Ahnak	A	T	19: 8,988,796 (GRCm39)	D3360V	probably damaging	Het
Akap9	T	C	5: 4,100,381 (GRCm39)	L2681P	probably benign	Het
Ankrd52	C	A	10: 128,217,857 (GRCm39)	A279E	probably damaging	Het
Arhgef4	T	C	1: 34,760,978 (GRCm39)	L78P	unknown	Het
Chpf	A	T	1: 75,453,904 (GRCm39)	C291*	probably null	Het
Cr1l	T	C	1: 194,800,030 (GRCm39)	T215A	probably damaging	Het
Ctc1	A	T	11: 68,918,209 (GRCm39)	K444*	probably null	Het
Dscaml1	T	C	9: 45,595,029 (GRCm39)	S711P	probably damaging	Het
Elavl4	A	T	4: 110,068,845 (GRCm39)	V176D	probably benign	Het
Faim2	A	G	15: 99,408,515 (GRCm39)	V251A	possibly damaging	Het
Fancg	A	G	4: 43,004,963 (GRCm39)	I410T	probably damaging	Het
Frmd3	G	A	4: 74,071,852 (GRCm39)	V245I	probably damaging	Het
Gls	T	C	1: 52,230,271 (GRCm39)	H480R	probably damaging	Het
Gm30191	A	G	4: 133,977,223 (GRCm39)	D145G	possibly damaging	Het
Grik2	T	C	10: 49,280,438 (GRCm39)	I438V	probably benign	Het
Klhl3	G	T	13: 58,211,611 (GRCm39)	Q197K	probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Mmp23	G	A	4: 155,736,462 (GRCm39)	T193I	possibly damaging	Het
Mmrn1	T	C	6: 60,952,961 (GRCm39)	V414A	probably damaging	Het
Mmrn2	C	T	14: 34,118,138 (GRCm39)	Q61*	probably null	Het
Mprip	G	A	11: 59,657,682 (GRCm39)	R852H	probably damaging	Het
Nars2	A	C	7: 96,711,868 (GRCm39)	N461T	probably damaging	Het
Nomo1	A	G	7: 45,690,986 (GRCm39)	N124S	probably null	Het
Or1e17	G	T	11: 73,831,401 (GRCm39)	V110F	probably benign	Het
Or1j17	A	G	2: 36,578,106 (GRCm39)	I31V	probably benign	Het
Peak1	T	A	9: 56,114,676 (GRCm39)	N1422Y	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pfkm	G	A	15: 98,026,117 (GRCm39)	E571K	probably damaging	Het
Ptpn2	A	T	18: 67,814,641 (GRCm39)	C123S	possibly damaging	Het
Raph1	G	A	1: 60,565,148 (GRCm39)	T113I	probably benign	Het
Rsf1	A	G	7: 97,334,920 (GRCm39)	E1351G		Het
Serinc4	C	T	2: 121,285,793 (GRCm39)	V163I	probably benign	Het
Slc7a2	G	T	8: 41,357,541 (GRCm39)	G270C	probably damaging	Het
Smc2	G	A	4: 52,450,857 (GRCm39)	R225Q	probably damaging	Het
Tas2r140	T	C	6: 40,468,601 (GRCm39)	S144P	probably damaging	Het
Tcl1b4	A	T	12: 105,168,865 (GRCm39)	H43L	probably benign	Het
Tmem156	T	C	5: 65,237,352 (GRCm39)	T103A	possibly damaging	Het
Tns3	A	T	11: 8,442,701 (GRCm39)	M554K	probably benign	Het
Tpp2	A	T	1: 43,979,297 (GRCm39)	I65F	probably benign	Het
Trank1	T	A	9: 111,206,967 (GRCm39)	M1700K	probably benign	Het
Ttc39c	T	A	18: 12,866,022 (GRCm39)	H473Q	probably benign	Het
Vmn2r68	A	C	7: 84,883,625 (GRCm39)		probably null	Het
Wnk1	T	C	6: 120,014,409 (GRCm39)	D62G	probably damaging	Het
Wnk2	A	T	13: 49,248,884 (GRCm39)	M389K	probably damaging	Het
Zfp292	G	A	4: 34,809,198 (GRCm39)	T1287M	probably benign	Het
Zfp451	G	A	1: 33,821,219 (GRCm39)	S211L	probably benign	Het
Zfp710	T	C	7: 79,738,327 (GRCm39)	S626P	unknown	Het
Zfp787	C	T	7: 6,146,094 (GRCm39)	E16K	probably damaging	Het
Zfp788	G	T	7: 41,284,324 (GRCm39)		probably null	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
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
R8061:Cfap300	UTSW	9	8,042,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACTCTCACAGGTCAGTAACATCTG -3'
(R):5'- CACTAAATTCACTTTTGCATCTTTGT -3'

Sequencing Primer
(F):5'- TCAGTAACATCTGACTGGCAG -3'
(R):5'- TCACTTTTGCATCTTTGTTCTTTAC -3'

Posted On

2020-09-15