Mutagenetix > Incidental Mutation

Incidental Mutation 'R8959:Cfap95'

682241

Institutional Source

Beutler Lab

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: 0.053) question?

Stock #

R8959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23536124-23630176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23536385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 174 (E174G)

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: E174G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053
AA Change: E174G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	G	T	7: 43,906,399 (GRCm39)	T51K	possibly damaging	Het
Angel2	C	T	1: 190,665,332 (GRCm39)	R88C	probably damaging	Het
Ankrd13b	G	A	11: 77,367,452 (GRCm39)	R181C	probably damaging	Het
Bmal2	T	C	6: 146,722,142 (GRCm39)	C238R	probably benign	Het
Brd3	C	T	2: 27,354,013 (GRCm39)	R33Q	probably damaging	Het
Ccdc106	T	A	7: 5,060,500 (GRCm39)	L20Q	probably benign	Het
Ccdc117	A	T	11: 5,491,421 (GRCm39)	V62D	possibly damaging	Het
Ccnt1	T	C	15: 98,441,096 (GRCm39)		probably benign	Het
Cmip	G	A	8: 118,138,054 (GRCm39)	V178I	probably benign	Het
Cnnm3	A	G	1: 36,558,096 (GRCm39)	E436G	probably damaging	Het
Dcaf11	A	G	14: 55,806,761 (GRCm39)	N488S	probably benign	Het
Dlg2	A	T	7: 90,501,927 (GRCm39)	K80*	probably null	Het
Dnase1l2	T	A	17: 24,661,642 (GRCm39)	D39V	probably damaging	Het
Dysf	A	G	6: 84,078,945 (GRCm39)	D708G	probably benign	Het
Enpep	A	T	3: 129,113,090 (GRCm39)	L278Q	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Flt3	T	G	5: 147,303,774 (GRCm39)	Q388P	possibly damaging	Het
Hltf	A	G	3: 20,136,936 (GRCm39)	Y329C	probably damaging	Het
Hmcn2	C	T	2: 31,282,159 (GRCm39)	P1924S	probably damaging	Het
Iba57	A	G	11: 59,052,461 (GRCm39)	V122A	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Irak2	T	A	6: 113,624,702 (GRCm39)	M66K	probably damaging	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Mpped1	G	A	15: 83,676,342 (GRCm39)	R36Q	probably damaging	Het
Myh1	C	A	11: 67,102,328 (GRCm39)	A873E	probably benign	Het
Nedd9	G	T	13: 41,469,758 (GRCm39)	A465D	probably damaging	Het
Nr2f1	G	T	13: 78,337,873 (GRCm39)	Y257*	probably null	Het
Omd	A	G	13: 49,745,790 (GRCm39)	E400G	possibly damaging	Het
Or5j1	T	A	2: 86,879,551 (GRCm39)	T10S	possibly damaging	Het
Or6c202	A	G	10: 128,996,484 (GRCm39)	I123T	probably damaging	Het
Patj	T	C	4: 98,480,212 (GRCm39)	S1306P	probably damaging	Het
Pdzph1	T	C	17: 59,281,599 (GRCm39)	K228E	probably damaging	Het
Prl2c5	A	G	13: 13,365,392 (GRCm39)		probably benign	Het
Rad18	T	C	6: 112,605,444 (GRCm39)	E410G	probably damaging	Het
Rp1	T	A	1: 4,419,650 (GRCm39)		probably benign	Het
Runx3	C	T	4: 134,902,968 (GRCm39)	S366L	probably damaging	Het
Ssh3	T	A	19: 4,318,590 (GRCm39)	R30S	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Taf6l	A	G	19: 8,750,690 (GRCm39)	F128S	possibly damaging	Het
Tmc6	A	C	11: 117,661,293 (GRCm39)		probably null	Het
Trpc3	T	G	3: 36,709,258 (GRCm39)	Q406P	probably benign	Het
Uncx	C	A	5: 139,529,826 (GRCm39)	Y26*	probably null	Het
Urb1	T	C	16: 90,571,005 (GRCm39)	D1268G	probably benign	Het
Wif1	T	C	10: 120,931,957 (GRCm39)	C294R	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp78	A	G	7: 6,382,380 (GRCm39)	R477G	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
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

Predicted Primers

PCR Primer
(F):5'- GCATCCTGGAATTATGTGCCTC -3'
(R):5'- TCCCTAACCAGTGTTTAGTTGC -3'

Sequencing Primer
(F):5'- ACATTTCCTTAGATTTGGAAGGC -3'
(R):5'- AACCAGTGTTTAGTTGCTCTTCATTG -3'

Posted On

2021-08-31