Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00679:Cfap276'

12409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap276

Ensembl Gene

ENSMUSG00000027886

Gene Name

cilia and flagella associated protein 276

Synonyms

1700013F07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL00679

Quality Score

Status

Chromosome

Chromosomal Location

108444900-108452013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108444951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 6 (E6G)

Ref Sequence

ENSEMBL: ENSMUSP00000029485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029485] [ENSMUST00000048012] [ENSMUST00000106625] [ENSMUST00000106626] [ENSMUST00000185128]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029485
AA Change: E6G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029485
Gene: ENSMUSG00000027886
AA Change: E6G

Domain	Start	End	E-Value	Type
Pfam:DUF3695	29	128	1.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048012

SMART Domains

Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412

Domain	Start	End	E-Value	Type
internal_repeat_1	3	212	1.11e-6	PROSPERO
internal_repeat_1	289	522	1.11e-6	PROSPERO
transmembrane domain	806	828	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106625

SMART Domains

Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
internal_repeat_1	48	310	8.31e-11	PROSPERO
internal_repeat_1	325	620	8.31e-11	PROSPERO
transmembrane domain	904	926	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106626

SMART Domains

Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
internal_repeat_1	48	178	2.5e-7	PROSPERO
internal_repeat_1	275	421	2.5e-7	PROSPERO
transmembrane domain	854	876	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195529

Predicted Effect

probably benign
Transcript: ENSMUST00000185128

SMART Domains

Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412

Domain	Start	End	E-Value	Type
low complexity region	25	31	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	C	A	12: 52,564,064 (GRCm39)	A345D	probably damaging	Het
Ccdc73	C	T	2: 104,824,936 (GRCm39)	P990S	probably damaging	Het
Cep112	A	G	11: 108,481,879 (GRCm39)	K692R	probably damaging	Het
Cep57l1	A	T	10: 41,595,796 (GRCm39)	C319*	probably null	Het
Cntnap5c	A	G	17: 58,362,673 (GRCm39)	D342G	probably damaging	Het
Exoc1	A	T	5: 76,714,870 (GRCm39)	H742L	possibly damaging	Het
Faah	A	T	4: 115,865,480 (GRCm39)	L69Q	possibly damaging	Het
Fbxw21	G	A	9: 108,991,032 (GRCm39)	P9L	probably damaging	Het
Irak4	T	A	15: 94,454,509 (GRCm39)	M218K	probably benign	Het
Kdm2a	A	T	19: 4,376,869 (GRCm39)	C235S	probably damaging	Het
Rab4a	A	G	8: 124,554,153 (GRCm39)	D29G	probably damaging	Het
Slc22a8	A	G	19: 8,582,219 (GRCm39)	I133M	possibly damaging	Het
Wipi2	A	G	5: 142,644,904 (GRCm39)	D170G	probably damaging	Het

Other mutations in Cfap276

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1450:Cfap276	UTSW	3	108,449,799 (GRCm39)	splice site	probably null
R2275:Cfap276	UTSW	3	108,449,819 (GRCm39)	missense	possibly damaging	0.94
R7388:Cfap276	UTSW	3	108,450,815 (GRCm39)	missense	possibly damaging	0.87
R7397:Cfap276	UTSW	3	108,450,864 (GRCm39)	missense	probably benign	0.33
R7614:Cfap276	UTSW	3	108,449,848 (GRCm39)	missense	probably benign	0.01
R8444:Cfap276	UTSW	3	108,451,384 (GRCm39)	missense	probably benign	0.25
R9326:Cfap276	UTSW	3	108,451,931 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06