Mutagenetix > Incidental Mutation

Incidental Mutation 'R7115:Cfap20'

551728

Institutional Source

Beutler Lab

Gene Symbol

Cfap20

Ensembl Gene

ENSMUSG00000031796

Gene Name

cilia and flagella associated protein 20

Synonyms

2600014O15Rik, T10-2A2, Gtl3

MMRRC Submission

045206-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96146877-96161497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96147874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 156 (I156V)

Ref Sequence

ENSEMBL: ENSMUSP00000034249 (fasta)

Gene Model

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

AlphaFold

Q8BTU1

Predicted Effect

probably benign
Transcript: ENSMUST00000034249
AA Change: I156V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034249
Gene: ENSMUSG00000031796
AA Change: I156V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211908

Predicted Effect

probably benign
Transcript: ENSMUST00000212131

Predicted Effect

probably benign
Transcript: ENSMUST00000212684

Predicted Effect

probably benign
Transcript: ENSMUST00000213086

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,255,589 (GRCm39)	I636N	probably benign	Het
Adam5	A	G	8: 25,271,712 (GRCm39)	I565T	possibly damaging	Het
Amd2	C	A	10: 35,587,633 (GRCm39)		probably benign	Het
Ap5m1	T	A	14: 49,323,727 (GRCm39)	Y472*	probably null	Het
Apcdd1	T	C	18: 63,070,024 (GRCm39)	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,208,446 (GRCm39)	K267R		Het
Carf	G	T	1: 60,187,309 (GRCm39)	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,774,636 (GRCm39)	S95C	possibly damaging	Het
Csn1s2a	T	C	5: 87,929,664 (GRCm39)	C96R	probably benign	Het
Cspg4b	T	G	13: 113,457,310 (GRCm39)	S1119A		Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dennd2a	G	A	6: 39,483,645 (GRCm39)	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,493,961 (GRCm39)	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,547,710 (GRCm39)	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,220,306 (GRCm39)	G275D		Het
Elf3	T	G	1: 135,184,856 (GRCm39)	D110A	probably damaging	Het
Eomes	A	G	9: 118,313,557 (GRCm39)	N534S	probably benign	Het
Fry	A	T	5: 150,309,532 (GRCm39)	R659W	probably damaging	Het
Gm10428	G	A	11: 62,644,206 (GRCm39)	C94Y	unknown	Het
Gm2696	T	A	10: 77,672,133 (GRCm39)	C111S	unknown	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Lrp1b	T	A	2: 40,888,247 (GRCm39)	N2338Y		Het
Map2k1	A	G	9: 64,119,888 (GRCm39)	I139T	probably damaging	Het
Or10n7-ps1	T	C	9: 39,598,003 (GRCm39)	Y79C	probably benign	Het
Or8g20	T	C	9: 39,395,944 (GRCm39)	I202V	probably benign	Het
Pxylp1	G	A	9: 96,707,063 (GRCm39)	T373I	probably benign	Het
Ranbp9	T	C	13: 43,560,147 (GRCm39)	N484S	probably benign	Het
Rassf5	A	G	1: 131,108,986 (GRCm39)	V293A	probably benign	Het
Ring1	A	G	17: 34,242,420 (GRCm39)	I29T	probably damaging	Het
Scn1a	G	A	2: 66,154,962 (GRCm39)	Q666*	probably null	Het
Spice1	G	A	16: 44,199,638 (GRCm39)	G697R	probably benign	Het
Tas2r131	A	G	6: 132,934,567 (GRCm39)	F81L	probably benign	Het
Tenm2	G	A	11: 36,054,644 (GRCm39)	S572L	probably damaging	Het
Tfr2	A	G	5: 137,569,977 (GRCm39)	T128A	probably benign	Het
Trim56	T	A	5: 137,142,514 (GRCm39)	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,370,527 (GRCm39)	R840*	probably null	Het

Other mutations in Cfap20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Cfap20	APN	8	96,151,287 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTCCTAGACCATGGCTCC -3'
(R):5'- CGTAAGGTAAATTCTACAAGCAACCTC -3'

Sequencing Primer
(F):5'- GGCTCCCCATGTCCTCC -3'
(R):5'- AGTGCTTTGACCACTGAAGC -3'

Posted On

2019-05-15