Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01131:Cfap20'

51804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap20

Ensembl Gene

ENSMUSG00000031796

Gene Name

cilia and flagella associated protein 20

Synonyms

2600014O15Rik, T10-2A2, Gtl3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL01131

Quality Score

Status

Chromosome

Chromosomal Location

96146877-96161497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96151287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 18 (D18G)

Ref Sequence

ENSEMBL: ENSMUSP00000148415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034249] [ENSMUST00000211908] [ENSMUST00000212131] [ENSMUST00000212684] [ENSMUST00000213086]

AlphaFold

Q8BTU1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034249
AA Change: D41G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034249
Gene: ENSMUSG00000031796
AA Change: D41G

Domain	Start	End	E-Value	Type
Pfam:DUF667	1	185	1.3e-99	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211908
AA Change: D41G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212131
AA Change: D18G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212579

Predicted Effect

probably benign
Transcript: ENSMUST00000212684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212807

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213086
AA Change: D41G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,733,400 (GRCm39)	D75Y	possibly damaging	Het
Cpne3	T	C	4: 19,543,318 (GRCm39)	D160G	probably damaging	Het
Ercc3	A	G	18: 32,402,942 (GRCm39)	*784W	probably null	Het
Fam53b	T	C	7: 132,317,511 (GRCm39)	E377G	probably damaging	Het
Far2	T	C	6: 148,052,096 (GRCm39)	V125A	possibly damaging	Het
Fasn	T	C	11: 120,705,445 (GRCm39)	E1192G	probably benign	Het
Irf5	A	G	6: 29,536,102 (GRCm39)	E372G	probably damaging	Het
Kif2c	C	T	4: 117,029,562 (GRCm39)	V140M	probably damaging	Het
Klre1	T	C	6: 129,561,133 (GRCm39)	F165L	possibly damaging	Het
Kmt2a	C	T	9: 44,732,467 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,329,583 (GRCm39)	C1728Y	probably damaging	Het
Muc4	C	A	16: 32,753,901 (GRCm38)	T1259N	possibly damaging	Het
Nlrp9b	A	G	7: 19,757,462 (GRCm39)	D233G	probably damaging	Het
Nuf2	T	C	1: 169,349,933 (GRCm39)		probably benign	Het
Nynrin	A	G	14: 56,110,142 (GRCm39)	K1750E	probably damaging	Het
Or5b109	A	G	19: 13,212,103 (GRCm39)	D163G	probably benign	Het
Parp4	C	A	14: 56,823,217 (GRCm39)		probably benign	Het
Rbms1	T	C	2: 60,589,180 (GRCm39)	M287V	probably benign	Het
Rhox3c	G	A	X: 36,651,982 (GRCm39)	R71K	probably damaging	Het
Rufy1	A	G	11: 50,282,850 (GRCm39)	L638P	probably damaging	Het
Slc15a3	G	A	19: 10,834,986 (GRCm39)		probably benign	Het
Slc26a9	T	C	1: 131,683,280 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,298,600 (GRCm39)	Y150C	probably damaging	Het
Slitrk6	A	T	14: 110,989,008 (GRCm39)	L233Q	probably damaging	Het
Ugt3a1	T	A	15: 9,365,248 (GRCm39)	I287N	probably damaging	Het
Unc13c	T	C	9: 73,471,335 (GRCm39)	N1778S	probably benign	Het
Vmn1r212	T	C	13: 23,067,329 (GRCm39)	N335D	unknown	Het
Wdfy1	C	T	1: 79,691,589 (GRCm39)	V273I	probably benign	Het

Other mutations in Cfap20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1106:Cfap20	UTSW	8	96,147,873 (GRCm39)	missense	probably damaging	0.99
R4182:Cfap20	UTSW	8	96,151,284 (GRCm39)	missense	probably damaging	1.00
R4746:Cfap20	UTSW	8	96,148,684 (GRCm39)	critical splice donor site	probably null
R7115:Cfap20	UTSW	8	96,147,874 (GRCm39)	missense	probably benign	0.00
R7150:Cfap20	UTSW	8	96,148,795 (GRCm39)	missense	probably damaging	0.99
R9574:Cfap20	UTSW	8	96,149,514 (GRCm39)	missense	probably benign	0.01
Z1176:Cfap20	UTSW	8	96,161,153 (GRCm39)	missense	possibly damaging	0.72

Posted On

2013-06-21