Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Cfap54'

197625

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

039520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92611481-92917480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92805625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1495 (H1495L)

Ref Sequence

ENSEMBL: ENSMUSP00000148636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168110] [ENSMUST00000170065] [ENSMUST00000212902]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168110
AA Change: H1495L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: H1495L

Domain	Start	End	E-Value	Type
low complexity region	3	37	N/A	INTRINSIC
low complexity region	39	48	N/A	INTRINSIC
Pfam:DUF4486	104	642	1.1e-269	PFAM
low complexity region	842	851	N/A	INTRINSIC
low complexity region	902	915	N/A	INTRINSIC
Blast:FN3	916	1002	4e-48	BLAST
low complexity region	1409	1426	N/A	INTRINSIC
low complexity region	1974	1984	N/A	INTRINSIC
low complexity region	2354	2370	N/A	INTRINSIC
low complexity region	2500	2513	N/A	INTRINSIC
low complexity region	2605	2616	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170065

Predicted Effect

probably benign
Transcript: ENSMUST00000212902
AA Change: H1495L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.2021

Coding Region Coverage

1x: 97.5%
3x: 97.1%
10x: 95.9%
20x: 94.1%

Validation Efficiency

99% (104/105)

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene causes background-dependent lethality and hydroencephaly, male sterility associated with defects in spermiogenesis, and impaired mucociliary clearance. Airway epithelial cilia show structural defects and a decrease in ciliary beat frequency and cilia-driven flow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430O22Rik	T	C	5: 115,574,234 (GRCm39)		probably benign	Het
A630010A05Rik	C	A	16: 14,436,447 (GRCm39)	L167I	possibly damaging	Het
Abca14	A	T	7: 119,815,405 (GRCm39)	M218L	possibly damaging	Het
Abca15	C	A	7: 119,939,761 (GRCm39)		probably null	Het
Acod1	T	C	14: 103,292,003 (GRCm39)	F176L	probably benign	Het
Actr5	A	G	2: 158,480,617 (GRCm39)	H545R	probably benign	Het
Adcy1	A	G	11: 7,088,396 (GRCm39)	T472A	probably damaging	Het
Aldh1l1	A	G	6: 90,548,910 (GRCm39)	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,716,048 (GRCm39)	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,601,966 (GRCm39)	G188V	probably damaging	Het
Atg7	T	A	6: 114,835,943 (GRCm39)		probably benign	Het
AU018091	A	T	7: 3,214,089 (GRCm39)	W43R	probably benign	Het
Baat	A	G	4: 49,503,101 (GRCm39)	V7A	probably benign	Het
Bcas1	C	A	2: 170,229,852 (GRCm39)	Q249H	possibly damaging	Het
Bltp1	T	A	3: 37,090,094 (GRCm39)	V676D	probably damaging	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Brca1	A	T	11: 101,421,933 (GRCm39)		probably benign	Het
Btg3	A	G	16: 78,161,688 (GRCm39)		probably null	Het
CAAA01180111.1	C	A	9: 124,058,093 (GRCm39)	V9L	possibly damaging	Het
Cacna2d3	T	C	14: 29,055,736 (GRCm39)	N298S	possibly damaging	Het
Carf	G	A	1: 60,167,152 (GRCm39)	V127I	possibly damaging	Het
Catsperg1	T	C	7: 28,884,433 (GRCm39)	S916G	probably damaging	Het
Cers1	T	C	8: 70,775,819 (GRCm39)	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,864,667 (GRCm39)	V48E	possibly damaging	Het
Clec4e	G	A	6: 123,262,420 (GRCm39)		probably benign	Het
Cntnap5a	T	A	1: 115,612,898 (GRCm39)	L11*	probably null	Het
Cr2	C	T	1: 194,839,817 (GRCm39)	G913R	probably damaging	Het
Cul9	A	G	17: 46,836,299 (GRCm39)	L1155P	probably damaging	Het
D130052B06Rik	C	T	11: 33,573,622 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,957,071 (GRCm39)		probably benign	Het
Dlec1	A	T	9: 118,971,646 (GRCm39)	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,650,970 (GRCm39)	E52G	possibly damaging	Het
Dsp	A	G	13: 38,376,688 (GRCm39)	K1491R	probably benign	Het
Ecpas	A	G	4: 58,832,753 (GRCm39)	V869A	probably benign	Het
Eef1d	A	T	15: 75,767,770 (GRCm39)	D206E	probably damaging	Het
Erbb2	C	T	11: 98,327,001 (GRCm39)	Q1137*	probably null	Het
Ercc2	T	A	7: 19,119,811 (GRCm39)	D157E	probably benign	Het
Eri1	A	G	8: 35,936,284 (GRCm39)	*346Q	probably null	Het
Espl1	A	G	15: 102,228,293 (GRCm39)	E1689G	probably benign	Het
Fap	C	T	2: 62,347,964 (GRCm39)	V539I	probably benign	Het
Fasn	A	G	11: 120,701,866 (GRCm39)	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,494,247 (GRCm39)	Y126S	probably damaging	Het
Ganc	A	T	2: 120,261,409 (GRCm39)		probably benign	Het
Gm9839	T	A	1: 32,559,594 (GRCm39)	R163*	probably null	Het
Grm1	T	C	10: 10,595,702 (GRCm39)	Y642C	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hmbox1	T	C	14: 65,099,027 (GRCm39)	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,162,764 (GRCm39)	T133A	probably benign	Het
Insr	A	T	8: 3,219,720 (GRCm39)	V934E	probably damaging	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itga10	C	T	3: 96,559,545 (GRCm39)	Q481*	probably null	Het
Kifap3	T	C	1: 163,656,689 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,925,047 (GRCm39)	M1120K	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Lrp1b	A	T	2: 40,547,368 (GRCm39)		probably benign	Het
Lrrc38	A	T	4: 143,096,450 (GRCm39)	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,741,215 (GRCm39)	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 39,878,631 (GRCm39)	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,284,374 (GRCm39)	L1380*	probably null	Het
Mrpl24	C	A	3: 87,829,744 (GRCm39)	A110D	probably benign	Het
Mrps14	T	C	1: 160,024,520 (GRCm39)	V17A	probably benign	Het
Mtcl1	T	C	17: 66,755,322 (GRCm39)	D340G	probably damaging	Het
Nalcn	T	C	14: 123,702,068 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,120,059 (GRCm39)	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,106,473 (GRCm39)	D267G	probably benign	Het
Nf1	A	T	11: 79,319,452 (GRCm39)	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,086,857 (GRCm39)	P44S	probably damaging	Het
Or14c40	T	C	7: 86,313,185 (GRCm39)	V105A	possibly damaging	Het
Or4a67	T	C	2: 88,597,832 (GRCm39)	I276V	probably benign	Het
P3h2	A	T	16: 25,784,618 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 53,997,236 (GRCm39)		probably benign	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pcnx2	A	T	8: 126,480,289 (GRCm39)	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,724,922 (GRCm39)	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,170,680 (GRCm39)	D662V	probably damaging	Het
Pkd1l3	C	T	8: 110,343,000 (GRCm39)	P113S	unknown	Het
Pkd2l1	G	T	19: 44,142,648 (GRCm39)	Q465K	possibly damaging	Het
Plch2	G	T	4: 155,068,189 (GRCm39)	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,932,041 (GRCm39)	I521N	probably damaging	Het
Pola2	A	T	19: 5,992,093 (GRCm39)	Y526*	probably null	Het
Prdm14	C	A	1: 13,194,756 (GRCm39)		probably benign	Het
Prss23	T	C	7: 89,159,217 (GRCm39)	D284G	probably damaging	Het
Psme2b	A	G	11: 48,836,467 (GRCm39)	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,385,777 (GRCm39)	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rhou	T	C	8: 124,388,029 (GRCm39)	W254R	possibly damaging	Het
Ryr3	G	T	2: 112,583,347 (GRCm39)		probably benign	Het
Scfd1	A	G	12: 51,478,281 (GRCm39)	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,519,902 (GRCm39)	Y1001H	probably benign	Het
Setx	T	A	2: 29,048,917 (GRCm39)	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,247,890 (GRCm39)	I205T	possibly damaging	Het
Shld2	G	T	14: 33,990,619 (GRCm39)	H96N	possibly damaging	Het
Slc5a2	T	C	7: 127,870,428 (GRCm39)		probably benign	Het
Speer1g	C	T	5: 11,180,337 (GRCm39)	H82Y	probably damaging	Het
Spock1	G	A	13: 57,577,182 (GRCm39)	R416C	possibly damaging	Het
Spred2	A	G	11: 19,968,109 (GRCm39)	I222V	probably benign	Het
Stkld1	A	T	2: 26,839,407 (GRCm39)	T358S	probably benign	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,578,637 (GRCm39)	E49V	probably benign	Het
Tert	A	G	13: 73,776,328 (GRCm39)	T360A	probably benign	Het
Tspear	A	G	10: 77,717,026 (GRCm39)	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,433,254 (GRCm39)	Q2096R	probably benign	Het
Ttll5	A	G	12: 85,965,736 (GRCm39)		probably null	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vmn2r111	T	A	17: 22,790,028 (GRCm39)	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,510,301 (GRCm39)	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,232,133 (GRCm39)	I711F	probably benign	Het
Vwa8	C	T	14: 79,341,134 (GRCm39)	Q1537*	probably null	Het
Wdr64	G	A	1: 175,603,288 (GRCm39)	V630I	probably benign	Het
Wnt6	G	T	1: 74,821,434 (GRCm39)	W84L	probably damaging	Het
Zfp11	C	A	5: 129,735,254 (GRCm39)	R69L	probably benign	Het

Other mutations in Cfap54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Cfap54	APN	10	92,917,385 (GRCm39)	missense	unknown
IGL02034:Cfap54	APN	10	92,897,347 (GRCm39)	missense	probably damaging	0.99
IGL02082:Cfap54	APN	10	92,917,320 (GRCm39)	missense	unknown
IGL02434:Cfap54	APN	10	92,902,616 (GRCm39)	missense	probably benign	0.20
R0011:Cfap54	UTSW	10	92,901,087 (GRCm39)	missense	probably damaging	0.97
R0011:Cfap54	UTSW	10	92,901,087 (GRCm39)	missense	probably damaging	0.97
R0032:Cfap54	UTSW	10	92,768,559 (GRCm39)	missense	probably benign	0.04
R0032:Cfap54	UTSW	10	92,768,559 (GRCm39)	missense	probably benign	0.04
R0040:Cfap54	UTSW	10	92,812,901 (GRCm39)	missense	probably benign	0.33
R0044:Cfap54	UTSW	10	92,871,295 (GRCm39)	missense	probably null	0.46
R0086:Cfap54	UTSW	10	92,864,456 (GRCm39)	missense	possibly damaging	0.86
R0104:Cfap54	UTSW	10	92,864,514 (GRCm39)	missense	probably damaging	1.00
R0194:Cfap54	UTSW	10	92,870,524 (GRCm39)	unclassified	probably benign
R0234:Cfap54	UTSW	10	92,735,022 (GRCm39)	nonsense	probably null
R0308:Cfap54	UTSW	10	92,721,226 (GRCm39)	missense	unknown
R0332:Cfap54	UTSW	10	92,871,319 (GRCm39)	missense	probably damaging	1.00
R0409:Cfap54	UTSW	10	92,612,075 (GRCm39)	missense	probably benign	0.00
R0433:Cfap54	UTSW	10	92,814,942 (GRCm39)	splice site	probably benign
R0436:Cfap54	UTSW	10	92,874,837 (GRCm39)	missense	possibly damaging	0.95
R0463:Cfap54	UTSW	10	92,710,805 (GRCm39)	critical splice donor site	probably null
R0523:Cfap54	UTSW	10	92,744,745 (GRCm39)	utr 3 prime	probably benign
R0551:Cfap54	UTSW	10	92,860,984 (GRCm39)	missense	probably benign	0.35
R0595:Cfap54	UTSW	10	92,720,598 (GRCm39)	missense	unknown
R0617:Cfap54	UTSW	10	92,665,512 (GRCm39)	splice site	probably benign
R0632:Cfap54	UTSW	10	92,720,958 (GRCm39)	missense	unknown
R0730:Cfap54	UTSW	10	92,870,599 (GRCm39)	missense	probably benign	0.05
R0786:Cfap54	UTSW	10	92,803,397 (GRCm39)	missense	possibly damaging	0.72
R0883:Cfap54	UTSW	10	92,706,531 (GRCm39)	missense	unknown
R1004:Cfap54	UTSW	10	92,902,558 (GRCm39)	splice site	probably benign
R1033:Cfap54	UTSW	10	92,675,311 (GRCm39)	missense	probably benign	0.07
R1168:Cfap54	UTSW	10	92,773,782 (GRCm39)	missense	probably damaging	0.99
R1186:Cfap54	UTSW	10	92,711,856 (GRCm39)	missense	unknown
R1429:Cfap54	UTSW	10	92,656,900 (GRCm39)	missense	probably benign	0.01
R1443:Cfap54	UTSW	10	92,768,583 (GRCm39)	missense	probably damaging	1.00
R1467:Cfap54	UTSW	10	92,805,625 (GRCm39)	missense	probably benign	0.01
R1557:Cfap54	UTSW	10	92,820,089 (GRCm39)	missense	possibly damaging	0.68
R1687:Cfap54	UTSW	10	92,768,502 (GRCm39)	missense	probably damaging	1.00
R1690:Cfap54	UTSW	10	92,871,304 (GRCm39)	missense	possibly damaging	0.95
R1711:Cfap54	UTSW	10	92,846,882 (GRCm39)	missense	probably damaging	1.00
R1756:Cfap54	UTSW	10	92,883,923 (GRCm39)	missense	probably damaging	1.00
R1769:Cfap54	UTSW	10	92,740,125 (GRCm39)	critical splice donor site	probably null
R1835:Cfap54	UTSW	10	92,798,237 (GRCm39)	missense	probably benign	0.35
R1889:Cfap54	UTSW	10	92,870,572 (GRCm39)	missense	possibly damaging	0.94
R1915:Cfap54	UTSW	10	92,720,564 (GRCm39)	missense	unknown
R1958:Cfap54	UTSW	10	92,833,204 (GRCm39)	missense	probably benign	0.18
R2005:Cfap54	UTSW	10	92,720,630 (GRCm39)	missense	unknown
R2018:Cfap54	UTSW	10	92,852,466 (GRCm39)	missense	probably benign	0.00
R2045:Cfap54	UTSW	10	92,874,671 (GRCm39)	splice site	probably null
R2059:Cfap54	UTSW	10	92,778,841 (GRCm39)	unclassified	probably benign
R2100:Cfap54	UTSW	10	92,837,799 (GRCm39)	missense	possibly damaging	0.84
R2110:Cfap54	UTSW	10	92,722,229 (GRCm39)	missense	unknown
R2392:Cfap54	UTSW	10	92,860,873 (GRCm39)	critical splice donor site	probably null
R2508:Cfap54	UTSW	10	92,833,236 (GRCm39)	missense	possibly damaging	0.72
R2852:Cfap54	UTSW	10	92,776,017 (GRCm39)	missense	probably damaging	1.00
R2857:Cfap54	UTSW	10	92,881,144 (GRCm39)	missense	probably damaging	0.99
R2871:Cfap54	UTSW	10	92,757,281 (GRCm39)	missense	possibly damaging	0.86
R2871:Cfap54	UTSW	10	92,757,281 (GRCm39)	missense	possibly damaging	0.86
R3107:Cfap54	UTSW	10	92,830,545 (GRCm39)	missense	probably benign	0.04
R3108:Cfap54	UTSW	10	92,830,545 (GRCm39)	missense	probably benign	0.04
R3157:Cfap54	UTSW	10	92,834,918 (GRCm39)	missense	probably benign	0.03
R3158:Cfap54	UTSW	10	92,834,918 (GRCm39)	missense	probably benign	0.03
R3159:Cfap54	UTSW	10	92,834,918 (GRCm39)	missense	probably benign	0.03
R3161:Cfap54	UTSW	10	92,881,140 (GRCm39)	missense	probably damaging	1.00
R3162:Cfap54	UTSW	10	92,881,140 (GRCm39)	missense	probably damaging	1.00
R3162:Cfap54	UTSW	10	92,881,140 (GRCm39)	missense	probably damaging	1.00
R3508:Cfap54	UTSW	10	92,721,286 (GRCm39)	missense	unknown
R3730:Cfap54	UTSW	10	92,847,335 (GRCm39)	nonsense	probably null
R3770:Cfap54	UTSW	10	92,714,398 (GRCm39)	missense	unknown
R3776:Cfap54	UTSW	10	92,880,962 (GRCm39)	missense	probably damaging	1.00
R3778:Cfap54	UTSW	10	92,740,206 (GRCm39)	utr 3 prime	probably benign
R3795:Cfap54	UTSW	10	92,778,735 (GRCm39)	unclassified	probably benign
R3834:Cfap54	UTSW	10	92,636,985 (GRCm39)	splice site	probably benign
R3891:Cfap54	UTSW	10	92,874,708 (GRCm39)	missense	possibly damaging	0.87
R3932:Cfap54	UTSW	10	92,665,619 (GRCm39)	missense	probably benign	0.03
R3973:Cfap54	UTSW	10	92,675,333 (GRCm39)	missense	possibly damaging	0.95
R3974:Cfap54	UTSW	10	92,675,333 (GRCm39)	missense	possibly damaging	0.95
R3976:Cfap54	UTSW	10	92,675,333 (GRCm39)	missense	possibly damaging	0.95
R3978:Cfap54	UTSW	10	92,798,274 (GRCm39)	missense	probably benign	0.01
R4190:Cfap54	UTSW	10	92,720,885 (GRCm39)	missense	unknown
R4389:Cfap54	UTSW	10	92,803,362 (GRCm39)	missense	probably benign	0.37
R4542:Cfap54	UTSW	10	92,860,991 (GRCm39)	missense	probably benign	0.12
R4564:Cfap54	UTSW	10	92,675,402 (GRCm39)	unclassified	probably benign
R4576:Cfap54	UTSW	10	92,879,090 (GRCm39)	critical splice donor site	probably null
R4620:Cfap54	UTSW	10	92,805,619 (GRCm39)	missense	probably benign	0.01
R4714:Cfap54	UTSW	10	92,651,780 (GRCm39)	missense	probably benign	0.01
R4762:Cfap54	UTSW	10	92,897,315 (GRCm39)	splice site	probably null
R4776:Cfap54	UTSW	10	92,808,556 (GRCm39)	missense	possibly damaging	0.96
R4819:Cfap54	UTSW	10	92,672,339 (GRCm39)	nonsense	probably null
R4827:Cfap54	UTSW	10	92,737,937 (GRCm39)	utr 3 prime	probably benign
R4832:Cfap54	UTSW	10	92,803,390 (GRCm39)	missense	probably benign	0.01
R4965:Cfap54	UTSW	10	92,902,661 (GRCm39)	missense	probably benign	0.23
R5001:Cfap54	UTSW	10	92,800,396 (GRCm39)	missense	probably benign	0.01
R5060:Cfap54	UTSW	10	92,875,013 (GRCm39)	missense	probably damaging	1.00
R5067:Cfap54	UTSW	10	92,902,628 (GRCm39)	missense	probably benign	0.17
R5069:Cfap54	UTSW	10	92,773,636 (GRCm39)	missense	probably benign
R5094:Cfap54	UTSW	10	92,734,861 (GRCm39)	utr 3 prime	probably benign
R5109:Cfap54	UTSW	10	92,773,753 (GRCm39)	missense	probably benign	0.03
R5127:Cfap54	UTSW	10	92,722,249 (GRCm39)	splice site	probably null
R5143:Cfap54	UTSW	10	92,865,020 (GRCm39)	missense	possibly damaging	0.73
R5147:Cfap54	UTSW	10	92,773,700 (GRCm39)	missense	probably benign	0.00
R5158:Cfap54	UTSW	10	92,901,059 (GRCm39)	missense	probably damaging	1.00
R5256:Cfap54	UTSW	10	92,880,885 (GRCm39)	splice site	probably null
R5256:Cfap54	UTSW	10	92,770,953 (GRCm39)	nonsense	probably null
R5266:Cfap54	UTSW	10	92,651,764 (GRCm39)	missense	probably benign	0.16
R5304:Cfap54	UTSW	10	92,656,968 (GRCm39)	missense	probably damaging	0.97
R5369:Cfap54	UTSW	10	92,897,119 (GRCm39)	intron	probably benign
R5406:Cfap54	UTSW	10	92,837,720 (GRCm39)	missense	probably benign	0.33
R5471:Cfap54	UTSW	10	92,864,522 (GRCm39)	missense	probably damaging	1.00
R5485:Cfap54	UTSW	10	92,864,979 (GRCm39)	missense	probably damaging	1.00
R5540:Cfap54	UTSW	10	92,808,470 (GRCm39)	missense	possibly damaging	0.85
R5586:Cfap54	UTSW	10	92,808,473 (GRCm39)	nonsense	probably null
R5614:Cfap54	UTSW	10	92,880,911 (GRCm39)	missense	probably damaging	1.00
R5634:Cfap54	UTSW	10	92,740,125 (GRCm39)	critical splice donor site	probably benign
R5680:Cfap54	UTSW	10	92,814,879 (GRCm39)	nonsense	probably null
R5797:Cfap54	UTSW	10	92,803,438 (GRCm39)	missense	probably benign	0.11
R5859:Cfap54	UTSW	10	92,852,386 (GRCm39)	nonsense	probably null
R5878:Cfap54	UTSW	10	92,800,423 (GRCm39)	missense	probably benign	0.01
R5910:Cfap54	UTSW	10	92,901,043 (GRCm39)	missense	probably damaging	0.99
R5936:Cfap54	UTSW	10	92,798,274 (GRCm39)	missense	probably benign	0.01
R5994:Cfap54	UTSW	10	92,874,943 (GRCm39)	missense	probably damaging	0.99
R6080:Cfap54	UTSW	10	92,881,197 (GRCm39)	missense	possibly damaging	0.64
R6268:Cfap54	UTSW	10	92,874,771 (GRCm39)	missense	probably damaging	1.00
R6296:Cfap54	UTSW	10	92,902,708 (GRCm39)	missense	probably damaging	1.00
R6409:Cfap54	UTSW	10	92,803,354 (GRCm39)	missense	probably benign	0.04
R6545:Cfap54	UTSW	10	92,672,319 (GRCm39)	missense	probably benign	0.31
R6570:Cfap54	UTSW	10	92,651,820 (GRCm39)	missense	unknown
R6597:Cfap54	UTSW	10	92,834,902 (GRCm39)	missense	possibly damaging	0.85
R6702:Cfap54	UTSW	10	92,704,596 (GRCm39)	missense	unknown
R6703:Cfap54	UTSW	10	92,704,596 (GRCm39)	missense	unknown
R6720:Cfap54	UTSW	10	92,656,981 (GRCm39)	missense	probably benign	0.07
R6841:Cfap54	UTSW	10	92,710,877 (GRCm39)	missense	unknown
R6910:Cfap54	UTSW	10	92,672,374 (GRCm39)	missense	probably benign	0.29
R6953:Cfap54	UTSW	10	92,830,540 (GRCm39)	missense	probably benign	0.19
R7009:Cfap54	UTSW	10	92,710,881 (GRCm39)	missense	unknown
R7129:Cfap54	UTSW	10	92,852,433 (GRCm39)	missense	probably benign	0.06
R7131:Cfap54	UTSW	10	92,656,966 (GRCm39)	missense	probably benign	0.03
R7171:Cfap54	UTSW	10	92,612,072 (GRCm39)	missense	probably damaging	0.99
R7189:Cfap54	UTSW	10	92,773,590 (GRCm39)	missense	unknown
R7225:Cfap54	UTSW	10	92,740,236 (GRCm39)	missense	unknown
R7270:Cfap54	UTSW	10	92,675,320 (GRCm39)	missense	probably benign	0.03
R7323:Cfap54	UTSW	10	92,637,000 (GRCm39)	missense	probably benign	0.00
R7380:Cfap54	UTSW	10	92,883,840 (GRCm39)	missense	probably damaging	1.00
R7395:Cfap54	UTSW	10	92,720,565 (GRCm39)	missense	unknown
R7411:Cfap54	UTSW	10	92,704,617 (GRCm39)	missense	unknown
R7503:Cfap54	UTSW	10	92,723,298 (GRCm39)	splice site	probably null
R7622:Cfap54	UTSW	10	92,792,806 (GRCm39)	missense	unknown
R7679:Cfap54	UTSW	10	92,803,374 (GRCm39)	missense	probably benign	0.01
R7776:Cfap54	UTSW	10	92,704,603 (GRCm39)	missense	unknown
R7844:Cfap54	UTSW	10	92,737,920 (GRCm39)	missense	unknown
R7980:Cfap54	UTSW	10	92,817,922 (GRCm39)	missense	possibly damaging	0.95
R7988:Cfap54	UTSW	10	92,737,941 (GRCm39)	missense	unknown
R8101:Cfap54	UTSW	10	92,720,658 (GRCm39)	missense	unknown
R8119:Cfap54	UTSW	10	92,704,672 (GRCm39)	missense	unknown
R8134:Cfap54	UTSW	10	92,714,378 (GRCm39)	missense	unknown
R8168:Cfap54	UTSW	10	92,744,739 (GRCm39)	missense	unknown
R8179:Cfap54	UTSW	10	92,833,178 (GRCm39)	missense	possibly damaging	0.68
R8392:Cfap54	UTSW	10	92,798,279 (GRCm39)	missense	unknown
R8436:Cfap54	UTSW	10	92,800,398 (GRCm39)	missense	unknown
R8505:Cfap54	UTSW	10	92,814,855 (GRCm39)	missense	probably benign	0.03
R8671:Cfap54	UTSW	10	92,790,934 (GRCm39)	missense	unknown
R8716:Cfap54	UTSW	10	92,800,494 (GRCm39)	missense	probably benign	0.00
R8816:Cfap54	UTSW	10	92,714,454 (GRCm39)	missense	unknown
R8822:Cfap54	UTSW	10	92,875,003 (GRCm39)	missense	probably benign	0.09
R8827:Cfap54	UTSW	10	92,774,110 (GRCm39)	missense	unknown
R8920:Cfap54	UTSW	10	92,776,199 (GRCm39)	critical splice acceptor site	probably null
R8924:Cfap54	UTSW	10	92,837,685 (GRCm39)	missense	probably damaging	0.99
R8954:Cfap54	UTSW	10	92,879,255 (GRCm39)	missense	probably damaging	1.00
R8963:Cfap54	UTSW	10	92,864,562 (GRCm39)	nonsense	probably null
R9010:Cfap54	UTSW	10	92,734,921 (GRCm39)	missense	unknown
R9017:Cfap54	UTSW	10	92,651,883 (GRCm39)	missense	probably benign	0.07
R9093:Cfap54	UTSW	10	92,651,770 (GRCm39)	missense	probably benign	0.03
R9095:Cfap54	UTSW	10	92,846,882 (GRCm39)	missense	probably damaging	1.00
R9142:Cfap54	UTSW	10	92,820,097 (GRCm39)	missense	possibly damaging	0.87
R9178:Cfap54	UTSW	10	92,830,579 (GRCm39)	missense	probably benign	0.10
R9196:Cfap54	UTSW	10	92,873,753 (GRCm39)	missense	probably benign	0.22
R9203:Cfap54	UTSW	10	92,880,990 (GRCm39)	missense	probably benign	0.30
R9258:Cfap54	UTSW	10	92,770,960 (GRCm39)	missense	unknown
R9275:Cfap54	UTSW	10	92,875,048 (GRCm39)	missense	possibly damaging	0.86
R9287:Cfap54	UTSW	10	92,805,565 (GRCm39)	missense	possibly damaging	0.50
R9289:Cfap54	UTSW	10	92,656,936 (GRCm39)	missense	possibly damaging	0.83
R9310:Cfap54	UTSW	10	92,798,177 (GRCm39)	missense	unknown
R9397:Cfap54	UTSW	10	92,833,147 (GRCm39)	missense	probably damaging	0.96
R9462:Cfap54	UTSW	10	92,737,920 (GRCm39)	missense	unknown
R9697:Cfap54	UTSW	10	92,792,851 (GRCm39)	missense	unknown
R9746:Cfap54	UTSW	10	92,637,081 (GRCm39)	missense	probably benign	0.03
R9755:Cfap54	UTSW	10	92,757,230 (GRCm39)	missense	unknown
X0022:Cfap54	UTSW	10	92,768,476 (GRCm39)	missense	probably damaging	1.00
X0022:Cfap54	UTSW	10	92,714,465 (GRCm39)	missense	unknown
X0027:Cfap54	UTSW	10	92,837,750 (GRCm39)	missense	possibly damaging	0.86
X0027:Cfap54	UTSW	10	92,714,400 (GRCm39)	missense	unknown
Z1177:Cfap54	UTSW	10	92,814,888 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACCACACTGGACATTATTGAGC -3'
(R):5'- TCCCTTGGCAGAAACAAGAGAACG -3'

Sequencing Primer
(F):5'- TGTAGACATTCTGACAACCTTGC -3'
(R):5'- AAAATGGCATACCGGAGCCT -3'

Posted On

2014-05-23