Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4514001:Cfap299'

556264

Institutional Source

Beutler Lab

Gene Symbol

Cfap299

Ensembl Gene

ENSMUSG00000057816

Gene Name

cilia and flagella associated protein 299

Synonyms

1700007G11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

PIT4514001 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

98477163-98949906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98949730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 221 (H221Q)

Ref Sequence

ENSEMBL: ENSMUSP00000079208 (fasta)

Gene Model

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

AlphaFold

Q810M1

Predicted Effect

probably benign
Transcript: ENSMUST00000080333
AA Change: H221Q

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

SMART Domains

Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816
AA Change: H221Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196339

Coding Region Coverage

1x: 93.1%
3x: 90.6%
10x: 84.2%
20x: 70.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 61,001,328 (GRCm39)		probably null	Het
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Abcc10	T	A	17: 46,616,574 (GRCm39)	I1247F	probably benign	Het
Acap3	G	A	4: 155,987,835 (GRCm39)	A524T	probably benign	Het
Adcy10	T	A	1: 165,384,360 (GRCm39)	N1040K	probably benign	Het
Adrb2	T	C	18: 62,312,798 (GRCm39)	D9G	probably benign	Het
Aldh1a7	T	C	19: 20,679,604 (GRCm39)	T391A	probably benign	Het
Bcam	A	G	7: 19,497,991 (GRCm39)	V344A	probably benign	Het
Birc7	T	A	2: 180,573,099 (GRCm39)	I172N	possibly damaging	Het
Cfap126	G	A	1: 170,952,881 (GRCm39)	D45N	probably damaging	Het
Cit	G	A	5: 116,135,913 (GRCm39)		probably null	Het
Col26a1	A	G	5: 136,780,579 (GRCm39)	V295A	probably benign	Het
Efcab15	T	C	11: 103,091,960 (GRCm39)	D27G	probably benign	Het
Epha7	C	T	4: 28,961,355 (GRCm39)	Q867*	probably null	Het
Fn1	A	G	1: 71,667,615 (GRCm39)	S793P	probably benign	Het
Foxb1	T	A	9: 69,667,503 (GRCm39)	Y9F	probably damaging	Het
Gpc1	T	A	1: 92,785,279 (GRCm39)	M406K	probably benign	Het
Gsg1	T	C	6: 135,214,574 (GRCm39)	T312A	probably benign	Het
Hmcn1	T	A	1: 150,545,238 (GRCm39)	I2790F	possibly damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Lmntd1	AGACTGTAAGTTTCTCAAATGTGTACCTGGA	AGA	6: 145,372,979 (GRCm39)		probably null	Het
Mcph1	A	G	8: 18,681,906 (GRCm39)	K348E	probably damaging	Het
Or10al6	T	A	17: 38,082,758 (GRCm39)	N71K	probably damaging	Het
Or8d4	T	C	9: 40,038,595 (GRCm39)	I221V	probably damaging	Het
Pik3cg	T	A	12: 32,254,902 (GRCm39)	R362W	probably damaging	Het
Pkp3	T	C	7: 140,669,623 (GRCm39)	L765P	probably damaging	Het
Plxna2	A	T	1: 194,477,245 (GRCm39)	I1252F	probably benign	Het
Prpf8	T	C	11: 75,387,181 (GRCm39)	F1154S	possibly damaging	Het
Scn7a	A	G	2: 66,514,523 (GRCm39)	F1084L	probably damaging	Het
Shmt1	G	A	11: 60,695,173 (GRCm39)	S47L	probably damaging	Het
Snap91	T	C	9: 86,761,486 (GRCm39)	K40R	possibly damaging	Het
Spag17	A	T	3: 99,920,527 (GRCm39)	T421S	possibly damaging	Het
Speer4f1	T	A	5: 17,683,754 (GRCm39)	N139K	possibly damaging	Het
Syne2	T	G	12: 76,151,789 (GRCm39)	N1883K	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Tmem39b	A	C	4: 129,578,290 (GRCm39)	N310K	possibly damaging	Het
Trim3	T	C	7: 105,267,417 (GRCm39)	T321A	probably benign	Het
Vmn2r124	T	C	17: 18,293,974 (GRCm39)	I687T	probably benign	Het
Zbtb8a	T	C	4: 129,251,523 (GRCm39)	D316G	probably benign	Het
Zfp639	A	G	3: 32,574,409 (GRCm39)	I345V	possibly damaging	Het
Zfp764	T	C	7: 127,003,913 (GRCm39)	H406R	probably benign	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
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
R8317:Cfap299	UTSW	5	98,885,459 (GRCm39)	missense	probably benign	0.21
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'- ATGGTCTCCATGGAAACGGC -3'
(R):5'- TTTGCAACCAGCCTGTGTTC -3'

Sequencing Primer
(F):5'- TCCATGGAAACGGCCCTTC -3'
(R):5'- GAAAGCAGTCCAGATTACAGTTTTC -3'

Posted On

2019-06-07