Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Cfap107'

421590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap107

Ensembl Gene

ENSMUSG00000028589

Gene Name

cilia and flagella associated protein 107

Synonyms

1700012P22Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

144144759-144165342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144150414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 56 (Y56H)

Ref Sequence

ENSEMBL: ENSMUSP00000030323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030323]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030323
AA Change: Y56H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530016L24Rik	T	A	12: 112,463,317 (GRCm39)		probably null	Het
Adcy7	C	T	8: 89,044,947 (GRCm39)	R228*	probably null	Het
Cdcp1	T	C	9: 123,014,378 (GRCm39)	H132R	probably benign	Het
Cyp4a32	T	C	4: 115,459,500 (GRCm39)	I78T	probably benign	Het
Fap	A	T	2: 62,372,466 (GRCm39)		probably benign	Het
Gad1-ps	C	T	10: 99,280,641 (GRCm39)		noncoding transcript	Het
Gli3	T	C	13: 15,823,166 (GRCm39)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,561,801 (GRCm39)	V97A	probably benign	Het
Hr	T	A	14: 70,800,860 (GRCm39)		probably null	Het
Itgax	C	T	7: 127,748,370 (GRCm39)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,566,194 (GRCm39)	R339H	probably damaging	Het
Mast4	T	C	13: 102,873,615 (GRCm39)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 95,203,483 (GRCm39)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,281,530 (GRCm39)	G44D	probably damaging	Het
Nol8	A	T	13: 49,815,044 (GRCm39)	D366V	probably damaging	Het
Or13a25	C	A	7: 140,247,424 (GRCm39)	L68M	probably damaging	Het
Pde4d	A	T	13: 110,091,125 (GRCm39)		probably benign	Het
Ptpn22	C	A	3: 103,819,332 (GRCm39)	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,549,739 (GRCm39)	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,177,408 (GRCm39)	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,875,310 (GRCm39)		noncoding transcript	Het
Smarcad1	T	A	6: 65,069,510 (GRCm39)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,747,684 (GRCm39)		probably benign	Het
Supt16	A	T	14: 52,415,598 (GRCm39)	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,591,567 (GRCm39)	N39S	probably benign	Het
Ubash3b	T	A	9: 40,948,775 (GRCm39)	Y180F	probably damaging	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 58,076,556 (GRCm39)	T366A	probably benign	Het
Zfp456	A	T	13: 67,514,450 (GRCm39)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,788,281 (GRCm39)	T345A	probably benign	Het

Other mutations in Cfap107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Cfap107	APN	4	144,165,098 (GRCm39)	missense	probably damaging	1.00
IGL02120:Cfap107	APN	4	144,144,981 (GRCm39)	missense	probably benign	0.00
R0699:Cfap107	UTSW	4	144,146,322 (GRCm39)	missense	probably damaging	1.00
R5380:Cfap107	UTSW	4	144,150,372 (GRCm39)	missense	probably damaging	0.98
R7405:Cfap107	UTSW	4	144,146,323 (GRCm39)	missense	probably damaging	0.98
R7607:Cfap107	UTSW	4	144,146,332 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02