Mutagenetix > Incidental Mutation

Incidental Mutation 'R2966:Cfap300'

264667

Institutional Source

Beutler Lab

Gene Symbol

Cfap300

Ensembl Gene

ENSMUSG00000053070

Gene Name

cilia and flagella associated protein 300

Synonyms

9230110C19Rik

MMRRC Submission

040522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R2966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8021673-8042824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8027175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 121 (R121Q)

Ref Sequence

ENSEMBL: ENSMUSP00000063450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065291] [ENSMUST00000215478]

AlphaFold

Q8CC70

Predicted Effect

probably damaging
Transcript: ENSMUST00000065291
AA Change: R121Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063450
Gene: ENSMUSG00000053070
AA Change: R121Q

Domain	Start	End	E-Value	Type
Pfam:DUF4498	14	259	8.2e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215478

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Adamts1	A	G	16: 85,593,662 (GRCm39)	V691A	possibly damaging	Het
Add1	C	A	5: 34,788,058 (GRCm39)	D702E	probably benign	Het
Ap1s1	T	C	5: 137,066,357 (GRCm39)	D148G	probably damaging	Het
Asprv1	T	A	6: 86,605,348 (GRCm39)	C65S	probably damaging	Het
Atp11a	A	T	8: 12,897,853 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,805,049 (GRCm39)	D1022G	probably benign	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Bnc2	G	A	4: 84,211,754 (GRCm39)	A300V	probably benign	Het
Cep250	A	G	2: 155,836,798 (GRCm39)	K2256E	probably benign	Het
Chrna2	T	C	14: 66,386,817 (GRCm39)	V321A	possibly damaging	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Col2a1	A	G	15: 97,873,976 (GRCm39)	I1402T	unknown	Het
Ddx43	C	A	9: 78,313,661 (GRCm39)	Y197*	probably null	Het
Dyrk2	T	A	10: 118,696,242 (GRCm39)	K339*	probably null	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fgd6	T	A	10: 93,880,056 (GRCm39)	F303L	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gabra5	T	C	7: 57,058,389 (GRCm39)	E453G	probably damaging	Het
Gatd1	T	A	7: 140,989,080 (GRCm39)	D193V	probably damaging	Het
Gm6871	T	G	7: 41,222,864 (GRCm39)	T75P	probably benign	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Has2	A	G	15: 56,545,533 (GRCm39)	L23P	probably damaging	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mgam	T	C	6: 40,745,154 (GRCm39)	V1807A	possibly damaging	Het
Myh1	A	G	11: 67,105,410 (GRCm39)	K1067E	probably damaging	Het
Nav2	C	T	7: 49,206,780 (GRCm39)	T1535I	probably damaging	Het
Noa1	T	C	5: 77,454,191 (GRCm39)	E483G	possibly damaging	Het
Nsd2	G	C	5: 34,003,466 (GRCm39)	E205D	probably benign	Het
Pclo	T	C	5: 14,731,164 (GRCm39)	L3222P	unknown	Het
Pnpla2	C	T	7: 141,038,391 (GRCm39)	L215F	probably damaging	Het
Prss35	A	G	9: 86,637,635 (GRCm39)	D135G	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rab21	T	C	10: 115,130,814 (GRCm39)	N164S	probably benign	Het
Rasal1	T	A	5: 120,809,685 (GRCm39)	L530Q	probably damaging	Het
Rbm15b	A	G	9: 106,762,791 (GRCm39)	L459P	probably damaging	Het
Recql	A	G	6: 142,309,313 (GRCm39)	V586A	probably benign	Het
Rprd2	A	T	3: 95,673,745 (GRCm39)		probably null	Het
Sis	T	A	3: 72,796,343 (GRCm39)	I1813L	probably benign	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Sympk	T	C	7: 18,764,469 (GRCm39)	V58A	probably damaging	Het
Trav7d-4	C	T	14: 53,007,584 (GRCm39)	Q26*	probably null	Het
Usp48	G	A	4: 137,341,073 (GRCm39)	V358M	probably damaging	Het
Vmn1r39	A	C	6: 66,781,715 (GRCm39)	I201S	possibly damaging	Het
Zcchc8	A	G	5: 123,858,930 (GRCm39)	S22P	probably benign	Het

Other mutations in Cfap300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cfap300	APN	9	8,022,433 (GRCm39)	missense	probably benign	0.04
IGL00481:Cfap300	APN	9	8,042,432 (GRCm39)	missense	probably damaging	1.00
R0090:Cfap300	UTSW	9	8,027,184 (GRCm39)	missense	probably benign	0.40
R0725:Cfap300	UTSW	9	8,027,144 (GRCm39)	missense	probably damaging	1.00
R1455:Cfap300	UTSW	9	8,022,457 (GRCm39)	missense	probably benign	0.03
R1735:Cfap300	UTSW	9	8,027,266 (GRCm39)	missense	probably benign	0.01
R2140:Cfap300	UTSW	9	8,022,478 (GRCm39)	missense	probably damaging	1.00
R4165:Cfap300	UTSW	9	8,026,071 (GRCm39)	missense	probably damaging	1.00
R4166:Cfap300	UTSW	9	8,026,071 (GRCm39)	missense	probably damaging	1.00
R4431:Cfap300	UTSW	9	8,027,178 (GRCm39)	missense	probably damaging	1.00
R4899:Cfap300	UTSW	9	8,022,494 (GRCm39)	missense	possibly damaging	0.94
R7797:Cfap300	UTSW	9	8,027,130 (GRCm39)	missense	possibly damaging	0.91
R7979:Cfap300	UTSW	9	8,027,111 (GRCm39)	missense	possibly damaging	0.74
R8061:Cfap300	UTSW	9	8,042,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATTGGTCATATCGACTAGCTAG -3'
(R):5'- TACACAGAGAAACCCTGTCTCTCG -3'

Sequencing Primer
(F):5'- GTCATATCGACTAGCTAGAGGTAGC -3'
(R):5'- GAGAAACCCTGTCTCTCGAAAAAC -3'

Posted On

2015-02-05