Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03011:Cfap95'

407781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap95

Ensembl Gene

ENSMUSG00000033053

Gene Name

cilia and flagella associated protein 95

Synonyms

1700028P14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL03011

Quality Score

Status

Chromosome

Chromosomal Location

23536124-23630176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23630017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 25 (D25V)

Ref Sequence

ENSEMBL: ENSMUSP00000048680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035849]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000035849
AA Change: D25V

SMART Domains

Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053
AA Change: D25V

Domain	Start	End	E-Value	Type
Pfam:DUF4572	28	219	1.3e-89	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Apob	C	A	12: 8,047,883 (GRCm39)	P941Q	probably damaging	Het
Armc9	T	A	1: 86,127,638 (GRCm39)		probably null	Het
Arpc5l	T	C	2: 38,903,730 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,592,621 (GRCm39)	D1745Y	probably damaging	Het
Atp9a	A	G	2: 168,494,552 (GRCm39)	V651A	probably damaging	Het
Ccnyl1	T	C	1: 64,747,631 (GRCm39)	I148T	possibly damaging	Het
Chrna6	A	T	8: 27,903,682 (GRCm39)	W17R	possibly damaging	Het
Cpne1	G	A	2: 155,919,917 (GRCm39)	H244Y	probably damaging	Het
Cpxm2	A	G	7: 131,650,807 (GRCm39)	Y618H	possibly damaging	Het
Csf1r	T	C	18: 61,243,473 (GRCm39)	I163T	probably benign	Het
Ctdsp1	T	C	1: 74,434,606 (GRCm39)		probably benign	Het
Ctsb	T	A	14: 63,370,806 (GRCm39)	I6N	probably benign	Het
Dcbld1	A	G	10: 52,160,244 (GRCm39)	N44S	probably damaging	Het
Dnah11	C	T	12: 117,976,112 (GRCm39)	C2769Y	probably benign	Het
Efemp2	C	A	19: 5,530,093 (GRCm39)	Q187K	probably damaging	Het
Elavl3	A	T	9: 21,947,612 (GRCm39)	I109N	probably damaging	Het
Elovl5	G	T	9: 77,890,066 (GRCm39)	K292N	probably benign	Het
Epb41	G	T	4: 131,731,105 (GRCm39)	P1T	probably damaging	Het
Gm44865	G	T	7: 108,165,007 (GRCm39)		probably benign	Het
Gnat2	C	A	3: 108,007,368 (GRCm39)	T262K	probably damaging	Het
Katnip	T	C	7: 125,451,174 (GRCm39)	C1102R	probably benign	Het
Kmt2e	A	T	5: 23,702,540 (GRCm39)	I951F	probably damaging	Het
Large2	T	C	2: 92,197,927 (GRCm39)	H258R	probably damaging	Het
Lnx1	G	A	5: 74,846,420 (GRCm39)	P10L	probably benign	Het
Lrp6	G	A	6: 134,497,380 (GRCm39)	S209L	possibly damaging	Het
Mc3r	A	G	2: 172,091,716 (GRCm39)	I313V	probably benign	Het
Med1	T	C	11: 98,051,859 (GRCm39)	D468G	possibly damaging	Het
Mlxip	T	C	5: 123,584,014 (GRCm39)	S526P	probably benign	Het
Myo15a	T	C	11: 60,400,357 (GRCm39)		probably benign	Het
Nedd1	T	C	10: 92,525,503 (GRCm39)	D602G	possibly damaging	Het
Nol7	C	T	13: 43,554,769 (GRCm39)		probably benign	Het
Or8c10	T	C	9: 38,279,364 (GRCm39)	I174T	possibly damaging	Het
Piezo2	T	C	18: 63,257,731 (GRCm39)	D329G	probably benign	Het
Pkia	G	T	3: 7,507,142 (GRCm39)	E75*	probably null	Het
Pramel26	A	C	4: 143,538,330 (GRCm39)	F214V	possibly damaging	Het
Ptpn14	A	T	1: 189,571,754 (GRCm39)	T282S	probably damaging	Het
Ptprg	C	T	14: 12,219,029 (GRCm38)	P408S	probably damaging	Het
Rpa2	A	G	4: 132,502,358 (GRCm39)	I147V	probably benign	Het
Serpina12	T	C	12: 103,997,397 (GRCm39)	T375A	possibly damaging	Het
Serpinb11	T	A	1: 107,307,546 (GRCm39)	S326T	probably damaging	Het
Slc18a1	T	C	8: 69,491,515 (GRCm39)	T500A	probably benign	Het
Tapt1	A	G	5: 44,350,529 (GRCm39)	F247L	possibly damaging	Het
Trav8d-2	A	G	14: 53,280,218 (GRCm39)	I69M	possibly damaging	Het

Other mutations in Cfap95

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Cfap95	APN	19	23,630,100 (GRCm39)	utr 5 prime	probably benign
IGL01635:Cfap95	APN	19	23,536,379 (GRCm39)	missense	probably damaging	0.98
IGL01999:Cfap95	APN	19	23,569,529 (GRCm39)	missense	possibly damaging	0.93
R0036:Cfap95	UTSW	19	23,593,932 (GRCm39)	unclassified	probably benign
R0894:Cfap95	UTSW	19	23,630,062 (GRCm39)	missense	unknown
R3898:Cfap95	UTSW	19	23,570,466 (GRCm39)	missense	probably benign	0.07
R4771:Cfap95	UTSW	19	23,536,337 (GRCm39)	missense	probably damaging	0.98
R8959:Cfap95	UTSW	19	23,536,385 (GRCm39)	missense	possibly damaging	0.85

Posted On

2016-08-02