Mutagenetix > Incidental Mutation

Incidental Mutation 'R8436:Cfap99'

653989

Institutional Source

Beutler Lab

Gene Symbol

Cfap99

Ensembl Gene

ENSMUSG00000109572

Gene Name

cilia and flagella associated protein 99

Synonyms

Gm21446

MMRRC Submission

067777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R8436 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34445944-34484671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34469026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 300 (N300S)

Ref Sequence

ENSEMBL: ENSMUSP00000146999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207754]

AlphaFold

A0A140LIX9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207754
AA Change: N300S

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,936 (GRCm39)	I1278V	possibly damaging	Het
Baz1b	A	G	5: 135,266,821 (GRCm39)	H1210R	probably damaging	Het
Cdt1	C	T	8: 123,296,070 (GRCm39)	S128L	probably benign	Het
Cfap54	A	T	10: 92,800,398 (GRCm39)	N1603K	unknown	Het
Chrdl2	G	A	7: 99,676,940 (GRCm39)		probably null	Het
Cpb2	C	A	14: 75,510,015 (GRCm39)	F258L	probably damaging	Het
Csmd3	A	T	15: 47,868,218 (GRCm39)	D767E	probably damaging	Het
Dennd3	C	T	15: 73,434,198 (GRCm39)	T956I	probably damaging	Het
Emcn	A	G	3: 137,129,228 (GRCm39)	T245A	possibly damaging	Het
Gm4353	A	G	7: 115,682,864 (GRCm39)	V239A	probably damaging	Het
Gm4884	G	A	7: 40,692,810 (GRCm39)	A260T	probably damaging	Het
Hectd4	A	G	5: 121,446,421 (GRCm39)	D205G	possibly damaging	Het
Hectd4	A	G	5: 121,481,210 (GRCm39)	S3005G	probably benign	Het
Ifngr1	T	C	10: 19,479,553 (GRCm39)	L148P	probably damaging	Het
Irf2	C	T	8: 47,271,929 (GRCm39)	T172M	probably damaging	Het
Irs1	T	C	1: 82,267,970 (GRCm39)	H82R	possibly damaging	Het
Kcnc4	G	T	3: 107,366,084 (GRCm39)	N41K	probably damaging	Het
Lig3	C	T	11: 82,682,870 (GRCm39)	A490V	possibly damaging	Het
Megf6	G	A	4: 154,349,649 (GRCm39)	E946K	probably damaging	Het
Mpi	A	T	9: 57,452,200 (GRCm39)	Y359N	probably damaging	Het
Nf1	A	G	11: 79,349,709 (GRCm39)	S1365G	probably damaging	Het
P3h3	C	A	6: 124,828,041 (GRCm39)		probably null	Het
Pdk2	A	T	11: 94,930,259 (GRCm39)	V59D	probably damaging	Het
Ppip5k2	T	C	1: 97,683,613 (GRCm39)	K168R	probably benign	Het
Prg4	G	T	1: 150,331,318 (GRCm39)	P452T	unknown	Het
Prl2b1	T	C	13: 27,567,442 (GRCm39)	N234S	possibly damaging	Het
Rnd1	T	A	15: 98,574,455 (GRCm39)	T41S	possibly damaging	Het
Sall4	G	A	2: 168,597,830 (GRCm39)	P337S	probably damaging	Het
Slc1a2	G	A	2: 102,586,298 (GRCm39)	A301T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Svep1	G	A	4: 58,044,053 (GRCm39)	T3531I	possibly damaging	Het
Sycp2	T	C	2: 178,004,761 (GRCm39)	D894G	probably benign	Het
Syne1	T	C	10: 5,178,659 (GRCm39)	N4605S	probably benign	Het
Syt4	A	C	18: 31,573,472 (GRCm39)	C348G	possibly damaging	Het
Tceanc2	G	A	4: 107,034,778 (GRCm39)	T28M	probably damaging	Het
Tmco1	A	G	1: 167,136,254 (GRCm39)	D5G		Het
Tnfsf12	T	C	11: 69,577,713 (GRCm39)	K235E	probably damaging	Het
Trank1	T	C	9: 111,220,450 (GRCm39)	S2396P	possibly damaging	Het
Vipas39	T	A	12: 87,304,191 (GRCm39)	D125V	probably damaging	Het
Vmn1r86	A	G	7: 12,836,771 (GRCm39)	F35S	probably benign	Het
Vmn2r16	A	G	5: 109,511,649 (GRCm39)	N619D	probably damaging	Het
Vps13a	A	G	19: 16,718,157 (GRCm39)	V521A	probably benign	Het
Wdr20rt	T	A	12: 65,273,035 (GRCm39)	L166Q	probably damaging	Het
Zbtb11	T	A	16: 55,821,022 (GRCm39)	C706*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zscan21	A	T	5: 138,116,178 (GRCm39)	Y30F	unknown	Het

Other mutations in Cfap99

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6856:Cfap99	UTSW	5	34,467,561 (GRCm39)	splice site	probably null
R6996:Cfap99	UTSW	5	34,484,604 (GRCm39)	missense	probably damaging	0.96
R7028:Cfap99	UTSW	5	34,458,863 (GRCm39)	missense	possibly damaging	0.63
R7749:Cfap99	UTSW	5	34,465,284 (GRCm39)	missense	probably benign	0.01
R7756:Cfap99	UTSW	5	34,459,952 (GRCm39)	missense	probably damaging	0.97
R7761:Cfap99	UTSW	5	34,480,774 (GRCm39)	nonsense	probably null
R7779:Cfap99	UTSW	5	34,469,008 (GRCm39)	missense	probably benign	0.17
R8113:Cfap99	UTSW	5	34,458,763 (GRCm39)	missense	probably damaging	1.00
R8152:Cfap99	UTSW	5	34,480,735 (GRCm39)	missense	probably damaging	1.00
R8190:Cfap99	UTSW	5	34,482,502 (GRCm39)	missense	possibly damaging	0.63
R9181:Cfap99	UTSW	5	34,471,602 (GRCm39)	missense	probably damaging	0.98
R9457:Cfap99	UTSW	5	34,458,741 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCCCAAAGAAGGCTCTGAG -3'
(R):5'- GCTTTATCAGAGCTGCTCCC -3'

Sequencing Primer
(F):5'- CTCTGAGAGCAGGAGGTGG -3'
(R):5'- AGAGCTGCTCCCTCCCTC -3'

Posted On

2020-10-20