Mutagenetix > Incidental Mutation

Incidental Mutation 'R4165:Cfap300'

321697

Institutional Source

Beutler Lab

Gene Symbol

Cfap300

Ensembl Gene

ENSMUSG00000053070

Gene Name

cilia and flagella associated protein 300

Synonyms

9230110C19Rik

MMRRC Submission

041007-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8021673-8042824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8026071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 167 (L167Q)

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: L167Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063450
Gene: ENSMUSG00000053070
AA Change: L167Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215478

Meta Mutation Damage Score

0.6563

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Alg11	T	C	8: 22,555,573 (GRCm39)	V278A	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Avil	C	T	10: 126,842,496 (GRCm39)	Q92*	probably null	Het
CK137956	A	T	4: 127,864,522 (GRCm39)	S36T	possibly damaging	Het
Epb41l3	T	C	17: 69,514,883 (GRCm39)	S7P	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,895 (GRCm39)		noncoding transcript	Het
Igkv15-103	G	T	6: 68,414,824 (GRCm39)	G88*	probably null	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Kyat3	A	G	3: 142,432,066 (GRCm39)		probably null	Het
Larp7	A	G	3: 127,330,611 (GRCm39)	Y569H	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Nr1d2	T	C	14: 18,215,446 (GRCm38)	I189V	probably benign	Het
Odad2	A	T	18: 7,217,008 (GRCm39)	I668K	probably damaging	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prap1	T	A	7: 139,676,091 (GRCm39)	V35E	probably benign	Het
Prdm1	T	A	10: 44,317,572 (GRCm39)	Y417F	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rps3	T	C	7: 99,132,816 (GRCm39)	I5V	probably benign	Het
Sema3a	A	T	5: 13,523,364 (GRCm39)		probably null	Het
Serpina3g	A	T	12: 104,206,546 (GRCm39)	T116S	probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slc22a28	A	G	19: 8,040,773 (GRCm39)	S493P	possibly damaging	Het
Snapc1	G	T	12: 74,029,354 (GRCm39)		probably null	Het
Sobp	C	T	10: 42,897,644 (GRCm39)	G647D	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Trappc11	T	C	8: 47,978,003 (GRCm39)		probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Vmn2r16	T	C	5: 109,478,427 (GRCm39)	F61L	possibly damaging	Het
Zfp709	C	T	8: 72,644,649 (GRCm39)	Q693*	probably null	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
R2966:Cfap300	UTSW	9	8,027,175 (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'- TGAACATGAGCAACACTGGGTG -3'
(R):5'- GCATGCACTGTCAGAAACATG -3'

Sequencing Primer
(F):5'- TGAGCAACACTGGGTGGTTCC -3'
(R):5'- GTCAGAAACATGACTGTGTGATCCC -3'

Posted On

2015-06-12