Mutagenetix > Incidental Mutation

Incidental Mutation 'R3898:Cfap95'

309081

Institutional Source

Beutler Lab

Gene Symbol

Cfap95

Ensembl Gene

ENSMUSG00000033053

Gene Name

cilia and flagella associated protein 95

Synonyms

1700028P14Rik

MMRRC Submission

040906-MU

Accession Numbers

Essential gene?

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

Stock #

R3898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23536124-23630176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23570466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000048680 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035849
AA Change: V101A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053
AA Change: V101A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg1	A	C	16: 5,054,253 (GRCm39)	I154L	possibly damaging	Het
Ankra2	C	T	13: 98,410,317 (GRCm39)	L136F	probably benign	Het
Anpep	A	G	7: 79,488,973 (GRCm39)	S372P	probably benign	Het
Cabyr	T	C	18: 12,884,580 (GRCm39)	S356P	probably benign	Het
Cad	G	T	5: 31,231,366 (GRCm39)	C1633F	probably benign	Het
Cadps2	G	A	6: 23,528,125 (GRCm39)	R425W	probably damaging	Het
Ccdc180	A	G	4: 45,912,799 (GRCm39)	K593E	possibly damaging	Het
Cdh8	T	A	8: 99,898,005 (GRCm39)	E436V	probably damaging	Het
Cln6	T	G	9: 62,757,934 (GRCm39)	F231C	probably damaging	Het
Cul2	A	G	18: 3,434,033 (GRCm39)	K677E	probably benign	Het
Cyp2c69	T	C	19: 39,864,834 (GRCm39)	I215V	probably benign	Het
Dhx36	T	C	3: 62,399,790 (GRCm39)	D393G	probably damaging	Het
Dnah7b	T	C	1: 46,282,417 (GRCm39)	V2850A	probably damaging	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Drg2	T	A	11: 60,347,460 (GRCm39)	S50T	probably benign	Het
Ecscr	A	G	18: 35,846,705 (GRCm39)	S230P	possibly damaging	Het
Eif2ak4	T	C	2: 118,261,404 (GRCm39)	V527A	probably damaging	Het
Elfn1	G	A	5: 139,957,719 (GRCm39)	R241H	probably damaging	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Fli1	C	T	9: 32,388,018 (GRCm39)	G24R	possibly damaging	Het
Frmd3	A	G	4: 73,992,346 (GRCm39)	D71G	probably damaging	Het
Ggnbp1	A	G	17: 27,244,312 (GRCm39)		probably benign	Het
Gpat2	T	C	2: 127,277,018 (GRCm39)	F713S	probably damaging	Het
H2-Q2	C	T	17: 35,561,743 (GRCm39)	P78S	probably damaging	Het
Kcnq2	C	T	2: 180,751,479 (GRCm39)	A306T	probably damaging	Het
Lmntd1	G	A	6: 145,359,152 (GRCm39)	P333S	probably benign	Het
Lrp1	G	A	10: 127,427,969 (GRCm39)	R535*	probably null	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Nlrp1a	G	A	11: 71,013,700 (GRCm39)	P517S	probably benign	Het
Or2y13	A	T	11: 49,415,386 (GRCm39)	I279F	probably damaging	Het
Pou4f1	T	C	14: 104,703,165 (GRCm39)	*422W	probably null	Het
Ptpn14	C	T	1: 189,582,728 (GRCm39)	P525L	probably benign	Het
Pyroxd2	C	A	19: 42,728,831 (GRCm39)	G190C	probably damaging	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Sptbn5	T	C	2: 119,887,691 (GRCm39)		noncoding transcript	Het
Tbc1d5	A	T	17: 51,270,772 (GRCm39)	F153Y	probably damaging	Het
Thop1	G	A	10: 80,916,278 (GRCm39)	G429S	probably damaging	Het
Trim30d	T	A	7: 104,132,736 (GRCm39)	I184L	probably benign	Het
Ubr5	T	C	15: 37,997,983 (GRCm39)	S1727G	probably benign	Het
Vezf1	T	C	11: 87,966,999 (GRCm39)	F77L	probably benign	Het
Vmn2r12	C	T	5: 109,238,370 (GRCm39)	A457T	probably benign	Het
Xirp1	A	T	9: 119,848,406 (GRCm39)	M159K	probably benign	Het
Zkscan17	C	T	11: 59,394,263 (GRCm39)	A113T	probably damaging	Het
Zyg11a	T	A	4: 108,067,391 (GRCm39)	N40Y	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
IGL01999:Cfap95	APN	19	23,569,529 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGTAGATGCTTGCGACC -3'
(R):5'- AGGCTTATGATGAAATAGTCCGTGG -3'

Sequencing Primer
(F):5'- CCAAGCATTTGGCATGTGAC -3'
(R):5'- AATAGTCCGTGGCTATGAGC -3'

Posted On

2015-04-17