Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01999:Cfap95'

182151

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 #

IGL01999

Quality Score

Status

Chromosome

Chromosomal Location

23536124-23630176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23569529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 130 (L130F)

Ref Sequence

ENSEMBL: ENSMUSP00000048680 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035849
AA Change: L130F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053
AA Change: L130F

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cabs1	C	T	5: 88,127,787 (GRCm39)	T146I	possibly damaging	Het
Cfap161	C	T	7: 83,440,899 (GRCm39)	V118M	probably damaging	Het
Chrna7	T	C	7: 62,753,539 (GRCm39)	M327V	probably damaging	Het
Ddx18	A	G	1: 121,489,457 (GRCm39)	I228T	probably benign	Het
Dnhd1	T	A	7: 105,370,422 (GRCm39)	S4616T	possibly damaging	Het
Dsp	T	A	13: 38,365,162 (GRCm39)	M515K	probably damaging	Het
Dysf	C	T	6: 84,090,600 (GRCm39)	P1002L	probably damaging	Het
Exoc7	T	C	11: 116,191,926 (GRCm39)		probably null	Het
Gria2	G	A	3: 80,639,398 (GRCm39)	R205W	probably damaging	Het
Hacd2	T	C	16: 34,869,083 (GRCm39)		probably benign	Het
Helz	G	T	11: 107,493,754 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,202,155 (GRCm39)	N352S	probably benign	Het
Mfsd11	T	A	11: 116,752,411 (GRCm39)	F135I	probably damaging	Het
Mtmr10	A	G	7: 63,987,460 (GRCm39)	N667D	probably benign	Het
Mtmr9	A	C	14: 63,779,903 (GRCm39)	F62C	probably damaging	Het
Nelfcd	T	C	2: 174,265,308 (GRCm39)		probably benign	Het
Nfasc	A	G	1: 132,532,985 (GRCm39)		probably benign	Het
Npnt	C	T	3: 132,614,160 (GRCm39)	R150Q	probably damaging	Het
Or5b108	G	A	19: 13,168,924 (GRCm39)	A298T	probably damaging	Het
Or5p55	C	T	7: 107,566,675 (GRCm39)	R24C	probably benign	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Pcdhb2	C	T	18: 37,429,890 (GRCm39)	A621V	probably damaging	Het
Pkd1l1	C	A	11: 8,786,291 (GRCm39)	W1921L	probably benign	Het
Plcb1	G	A	2: 135,188,238 (GRCm39)	R777Q	probably damaging	Het
Plch1	G	A	3: 63,660,728 (GRCm39)	P297L	probably damaging	Het
Ppp2r2b	T	C	18: 42,778,788 (GRCm39)		probably benign	Het
Ppp6r2	A	G	15: 89,154,155 (GRCm39)	D372G	probably benign	Het
Rtn4r	A	G	16: 17,969,321 (GRCm39)	R250G	possibly damaging	Het
Sec61a2	A	G	2: 5,896,174 (GRCm39)		probably benign	Het
Sema3g	G	T	14: 30,939,922 (GRCm39)	V19L	probably benign	Het
Sult2a7	T	C	7: 14,225,648 (GRCm39)	T113A	probably benign	Het
Tcp11l1	T	C	2: 104,528,914 (GRCm39)	D128G	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Vcan	A	G	13: 89,832,557 (GRCm39)	L2150P	probably damaging	Het
Vmn1r40	A	C	6: 89,691,948 (GRCm39)	N255T	probably benign	Het
Vmn2r68	T	C	7: 84,871,439 (GRCm39)	N615D	probably damaging	Het
Zdhhc25	A	G	15: 88,485,217 (GRCm39)	E184G	probably 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
IGL03011:Cfap95	APN	19	23,630,017 (GRCm39)	missense	unknown
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

2014-05-07