Mutagenetix > Incidental Mutation

Incidental Mutation 'R8317:Cfap299'

641737

Institutional Source

Beutler Lab

Gene Symbol

Cfap299

Ensembl Gene

ENSMUSG00000057816

Gene Name

cilia and flagella associated protein 299

Synonyms

1700007G11Rik

MMRRC Submission

067721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98477163-98949906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98885459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 122 (H122P)

Ref Sequence

ENSEMBL: ENSMUSP00000079208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080333]

AlphaFold

Q810M1

Predicted Effect

probably benign
Transcript: ENSMUST00000080333
AA Change: H122P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816
AA Change: H122P

Domain	Start	End	E-Value	Type
Pfam:DUF4464	12	232	7.1e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196339

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,723,236 (GRCm39)	V621M	probably damaging	Het
Adipor1	C	T	1: 134,355,905 (GRCm39)	R235W	probably benign	Het
Agbl1	T	A	7: 76,071,929 (GRCm39)	M594K	unknown	Het
Ang2	A	G	14: 51,433,349 (GRCm39)	V11A	probably benign	Het
Ccl25	A	G	8: 4,404,138 (GRCm39)	N80S	probably benign	Het
Cd19	A	T	7: 126,012,615 (GRCm39)	C259*	probably null	Het
Cd209b	A	T	8: 3,972,018 (GRCm39)	I177N	probably damaging	Het
Cdc20	C	A	4: 118,294,323 (GRCm39)		probably benign	Het
Cdh23	A	T	10: 60,147,037 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,272,568 (GRCm39)	R536W	probably damaging	Het
Chd6	T	C	2: 160,832,241 (GRCm39)	D977G	probably damaging	Het
Cilk1	T	A	9: 78,060,933 (GRCm39)	V193E	probably damaging	Het
Csl	T	G	10: 99,594,900 (GRCm39)	H55P	probably damaging	Het
Cstf2t	G	A	19: 31,061,648 (GRCm39)	A395T	probably benign	Het
Dhx58	A	T	11: 100,594,388 (GRCm39)	I101N	probably damaging	Het
Dlg5	A	C	14: 24,241,298 (GRCm39)	S200A	probably damaging	Het
Epb41	C	A	4: 131,684,961 (GRCm39)	G86V		Het
Fat4	T	C	3: 39,012,659 (GRCm39)	V2318A	possibly damaging	Het
Fbxo32	A	T	15: 58,068,626 (GRCm39)	F119I	probably damaging	Het
Flacc1	T	C	1: 58,715,707 (GRCm39)	K170E	possibly damaging	Het
Fndc1	A	T	17: 8,019,720 (GRCm39)	L153*	probably null	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gpr63	A	T	4: 25,008,223 (GRCm39)	T316S	probably damaging	Het
Il16	T	C	7: 83,304,538 (GRCm39)	T665A	probably benign	Het
Lama5	T	C	2: 179,848,784 (GRCm39)	N272S	probably damaging	Het
Map3k1	T	C	13: 111,894,696 (GRCm39)	Y660C	probably damaging	Het
Mbd3l1	C	A	9: 18,396,117 (GRCm39)	L81I	probably benign	Het
Morc3	C	A	16: 93,659,417 (GRCm39)	Q442K	probably benign	Het
Muc16	G	A	9: 18,569,339 (GRCm39)	T1060I	unknown	Het
Myh11	T	A	16: 14,025,941 (GRCm39)	D1343V		Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Nbn	T	G	4: 15,970,893 (GRCm39)	L292W	probably damaging	Het
Ndufb11b	A	G	15: 81,864,978 (GRCm39)	Y73C	probably damaging	Het
Nebl	A	G	2: 17,355,568 (GRCm39)	M195T	possibly damaging	Het
Net1	T	C	13: 3,957,856 (GRCm39)	K66E	possibly damaging	Het
Nod1	T	C	6: 54,920,425 (GRCm39)	Y631C	probably damaging	Het
Nxf1	A	G	19: 8,748,407 (GRCm39)	H12R	probably benign	Het
Onecut3	T	C	10: 80,331,161 (GRCm39)	L107P	unknown	Het
Opa1	T	G	16: 29,432,962 (GRCm39)	I512S	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Pappa2	A	G	1: 158,592,530 (GRCm39)	C1616R	probably damaging	Het
Parn	T	G	16: 13,358,964 (GRCm39)	K593Q	probably damaging	Het
Pcare	A	C	17: 72,056,197 (GRCm39)	L1160R	probably benign	Het
Polr3g	T	C	13: 81,826,302 (GRCm39)	K173R	unknown	Het
Prcp	A	G	7: 92,524,598 (GRCm39)	T18A	probably benign	Het
Sash1	G	A	10: 8,605,150 (GRCm39)	T1080M	possibly damaging	Het
Skap2	A	G	6: 51,884,865 (GRCm39)		probably null	Het
Spmip9	C	A	6: 70,890,276 (GRCm39)	W172L	possibly damaging	Het
Srebf1	C	A	11: 60,091,483 (GRCm39)	S1014I	possibly damaging	Het
Stk32b	C	T	5: 37,612,319 (GRCm39)	E356K	probably damaging	Het
Tjp3	T	A	10: 81,116,324 (GRCm39)	T257S	probably benign	Het
Trf	A	G	9: 103,094,715 (GRCm39)	Y448H	probably damaging	Het
Tsnaxip1	G	C	8: 106,554,438 (GRCm39)	R7P	probably benign	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Wdhd1	A	T	14: 47,500,994 (GRCm39)	H469Q	probably damaging	Het
Zbtb7a	G	C	10: 80,980,784 (GRCm39)	G326A	probably benign	Het
Zfp493	G	A	13: 67,931,958 (GRCm39)	R19H	probably benign	Het
Zfp932	A	T	5: 110,156,922 (GRCm39)	K207*	probably null	Het

Other mutations in Cfap299

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Cfap299	APN	5	98,932,369 (GRCm39)	missense	probably benign	0.00
IGL01133:Cfap299	APN	5	98,646,240 (GRCm39)	critical splice donor site	probably null
IGL02151:Cfap299	APN	5	98,477,301 (GRCm39)	missense	probably damaging	1.00
LCD18:Cfap299	UTSW	5	98,855,367 (GRCm39)	intron	probably benign
PIT4514001:Cfap299	UTSW	5	98,949,730 (GRCm39)	missense	probably benign	0.00
R0962:Cfap299	UTSW	5	98,714,420 (GRCm39)	intron	probably benign
R1545:Cfap299	UTSW	5	98,477,291 (GRCm39)	missense	probably benign	0.25
R1886:Cfap299	UTSW	5	98,949,690 (GRCm39)	missense	probably benign	0.41
R1954:Cfap299	UTSW	5	98,714,612 (GRCm39)	intron	probably benign
R1965:Cfap299	UTSW	5	98,494,093 (GRCm39)	missense	probably damaging	1.00
R2008:Cfap299	UTSW	5	98,885,561 (GRCm39)	missense	possibly damaging	0.90
R3873:Cfap299	UTSW	5	98,885,482 (GRCm39)	missense	probably damaging	1.00
R4940:Cfap299	UTSW	5	98,885,495 (GRCm39)	missense	possibly damaging	0.95
R5708:Cfap299	UTSW	5	98,885,566 (GRCm39)	missense	probably benign
R6509:Cfap299	UTSW	5	98,477,256 (GRCm39)	missense	probably benign	0.16
R6595:Cfap299	UTSW	5	98,949,717 (GRCm39)	missense	possibly damaging	0.78
R7009:Cfap299	UTSW	5	98,932,379 (GRCm39)	missense	probably damaging	0.99
R7911:Cfap299	UTSW	5	98,885,567 (GRCm39)	missense	possibly damaging	0.58
R8211:Cfap299	UTSW	5	98,477,294 (GRCm39)	missense	possibly damaging	0.77
R9058:Cfap299	UTSW	5	98,932,400 (GRCm39)	missense	probably damaging	1.00
R9293:Cfap299	UTSW	5	98,646,162 (GRCm39)	missense	probably benign	0.13
R9505:Cfap299	UTSW	5	98,477,213 (GRCm39)	start codon destroyed	probably null	0.21
R9681:Cfap299	UTSW	5	98,477,214 (GRCm39)	start codon destroyed	probably null	0.65
Z1177:Cfap299	UTSW	5	98,949,693 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTACCTGAGATAATCATGGGTG -3'
(R):5'- AGTTATCCATTGCCAGCCTC -3'

Sequencing Primer
(F):5'- GTGAAACATACAGCAGCACTTG -3'
(R):5'- GGATTATGATACTGGTCTCAACATGC -3'

Posted On

2020-07-28