Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Cfap54'

164592

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: 0.096) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92775619-93081618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92969763 bp (GRCm38)

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: 99.6%
3x: 98.1%
10x: 88.5%
20x: 62.9%

Validation Efficiency

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,295,463 (GRCm38)	V9L	possibly damaging	Het
4932438A13Rik	T	A	3: 37,035,945 (GRCm38)	V676D	probably damaging	Het
A630010A05Rik	C	A	16: 14,618,583 (GRCm38)	L167I	possibly damaging	Het
Abca14	A	T	7: 120,216,182 (GRCm38)	M218L	possibly damaging	Het
Abca15	C	A	7: 120,340,538 (GRCm38)		probably null	Het
Acod1	T	C	14: 103,054,567 (GRCm38)	F176L	probably benign	Het
Actr5	A	G	2: 158,638,697 (GRCm38)	H545R	probably benign	Het
Adcy1	A	G	11: 7,138,396 (GRCm38)	T472A	probably damaging	Het
AI314180	A	G	4: 58,832,753 (GRCm38)	V869A	probably benign	Het
Aldh1l1	A	G	6: 90,571,928 (GRCm38)	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,885,703 (GRCm38)	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,717,766 (GRCm38)	G188V	probably damaging	Het
AU018091	A	T	7: 3,164,259 (GRCm38)	W43R	probably benign	Het
Baat	A	G	4: 49,503,101 (GRCm38)	V7A	probably benign	Het
Bcas1	C	A	2: 170,387,932 (GRCm38)	Q249H	possibly damaging	Het
Bptf	G	T	11: 107,055,055 (GRCm38)	Q2453K	possibly damaging	Het
Btg3	A	G	16: 78,364,800 (GRCm38)		probably null	Het
Cacna2d3	T	C	14: 29,333,779 (GRCm38)	N298S	possibly damaging	Het
Carf	G	A	1: 60,127,993 (GRCm38)	V127I	possibly damaging	Het
Catsperg1	T	C	7: 29,185,008 (GRCm38)	S916G	probably damaging	Het
Cers1	T	C	8: 70,323,169 (GRCm38)	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,138,035 (GRCm38)	V48E	possibly damaging	Het
Cntnap5a	T	A	1: 115,685,168 (GRCm38)	L11*	probably null	Het
Cr2	C	T	1: 195,157,509 (GRCm38)	G913R	probably damaging	Het
Cul9	A	G	17: 46,525,373 (GRCm38)	L1155P	probably damaging	Het
Dlec1	A	T	9: 119,142,578 (GRCm38)	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,673,606 (GRCm38)	E52G	possibly damaging	Het
Dsp	A	G	13: 38,192,712 (GRCm38)	K1491R	probably benign	Het
Eef1d	A	T	15: 75,895,921 (GRCm38)	D206E	probably damaging	Het
Erbb2	C	T	11: 98,436,175 (GRCm38)	Q1137*	probably null	Het
Ercc2	T	A	7: 19,385,886 (GRCm38)	D157E	probably benign	Het
Eri1	A	G	8: 35,469,130 (GRCm38)	*346Q	probably null	Het
Espl1	A	G	15: 102,319,858 (GRCm38)	E1689G	probably benign	Het
Fam35a	G	T	14: 34,268,662 (GRCm38)	H96N	possibly damaging	Het
Fap	C	T	2: 62,517,620 (GRCm38)	V539I	probably benign	Het
Fasn	A	G	11: 120,811,040 (GRCm38)	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,652,327 (GRCm38)	Y126S	probably damaging	Het
Gm8879	C	T	5: 11,130,370 (GRCm38)	H82Y	probably damaging	Het
Grm1	T	C	10: 10,719,958 (GRCm38)	Y642C	probably damaging	Het
Heatr4	T	C	12: 83,978,067 (GRCm38)	T327A	possibly damaging	Het
Hmbox1	T	C	14: 64,861,578 (GRCm38)	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,689,590 (GRCm38)	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,271,938 (GRCm38)	T133A	probably benign	Het
Insr	A	T	8: 3,169,720 (GRCm38)	V934E	probably damaging	Het
Ipo9	T	C	1: 135,406,543 (GRCm38)	E315G	possibly damaging	Het
Itga10	C	T	3: 96,652,229 (GRCm38)	Q481*	probably null	Het
Kntc1	T	A	5: 123,786,984 (GRCm38)	M1120K	probably benign	Het
Krt78	A	G	15: 101,946,293 (GRCm38)	Y1028H	possibly damaging	Het
Lrrc38	A	T	4: 143,369,880 (GRCm38)	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,850,389 (GRCm38)	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 40,002,635 (GRCm38)	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,237,600 (GRCm38)	L1380*	probably null	Het
Mrpl24	C	A	3: 87,922,437 (GRCm38)	A110D	probably benign	Het
Mrps14	T	C	1: 160,196,950 (GRCm38)	V17A	probably benign	Het
Mtcl1	T	C	17: 66,448,327 (GRCm38)	D340G	probably damaging	Het
Neb	T	C	2: 52,230,047 (GRCm38)	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,270,604 (GRCm38)	D267G	probably benign	Het
Nf1	A	T	11: 79,428,626 (GRCm38)	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,437,433 (GRCm38)	P44S	probably damaging	Het
Olfr1200	T	C	2: 88,767,488 (GRCm38)	I276V	probably benign	Het
Olfr293	T	C	7: 86,663,977 (GRCm38)	V105A	possibly damaging	Het
Pcif1	T	C	2: 164,889,138 (GRCm38)	Y404H	probably benign	Het
Pcnx2	A	T	8: 125,753,550 (GRCm38)	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,674,894 (GRCm38)	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,034,172 (GRCm38)	D662V	probably damaging	Het
Pkd1l3	C	T	8: 109,616,368 (GRCm38)	P113S	unknown	Het
Pkd2l1	G	T	19: 44,154,209 (GRCm38)	Q465K	possibly damaging	Het
Plch2	G	T	4: 154,983,732 (GRCm38)	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,892,882 (GRCm38)	I521N	probably damaging	Het
Pola2	A	T	19: 5,942,065 (GRCm38)	Y526*	probably null	Het
Prss23	T	C	7: 89,510,009 (GRCm38)	D284G	probably damaging	Het
Psme2b	A	G	11: 48,945,640 (GRCm38)	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,437,027 (GRCm38)	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,543,857 (GRCm38)	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,213,748 (GRCm38)	L206P	probably damaging	Het
Rhou	T	C	8: 123,661,290 (GRCm38)	W254R	possibly damaging	Het
Scfd1	A	G	12: 51,431,498 (GRCm38)	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,689,558 (GRCm38)	Y1001H	probably benign	Het
Setx	T	A	2: 29,158,905 (GRCm38)	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,093,871 (GRCm38)	I205T	possibly damaging	Het
Spock1	G	A	13: 57,429,369 (GRCm38)	R416C	possibly damaging	Het
Spred2	A	G	11: 20,018,109 (GRCm38)	I222V	probably benign	Het
Stkld1	A	T	2: 26,949,395 (GRCm38)	T358S	probably benign	Het
Strip1	T	C	3: 107,627,408 (GRCm38)	E102G	possibly damaging	Het
Tarsl2	T	C	7: 65,655,696 (GRCm38)	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,671,330 (GRCm38)	E49V	probably benign	Het
Tert	A	G	13: 73,628,209 (GRCm38)	T360A	probably benign	Het
Tspear	A	G	10: 77,881,192 (GRCm38)	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,285,388 (GRCm38)	Q2096R	probably benign	Het
Ugt2b38	T	G	5: 87,412,373 (GRCm38)	N361H	probably damaging	Het
Unc80	C	T	1: 66,521,581 (GRCm38)	H823Y	possibly damaging	Het
Vmn2r111	T	A	17: 22,571,047 (GRCm38)	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,586,836 (GRCm38)	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,396,299 (GRCm38)	I711F	probably benign	Het
Vwa8	C	T	14: 79,103,694 (GRCm38)	Q1537*	probably null	Het
Wdr64	G	A	1: 175,775,722 (GRCm38)	V630I	probably benign	Het
Wnt6	G	T	1: 74,782,275 (GRCm38)	W84L	probably damaging	Het
Zfp11	C	A	5: 129,658,190 (GRCm38)	R69L	probably benign	Het

Other mutations in Cfap54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Cfap54	APN	10	93,081,523 (GRCm38)	missense	unknown
IGL02034:Cfap54	APN	10	93,061,485 (GRCm38)	missense	probably damaging	0.99
IGL02082:Cfap54	APN	10	93,081,458 (GRCm38)	missense	unknown
IGL02434:Cfap54	APN	10	93,066,754 (GRCm38)	missense	probably benign	0.20
R0011:Cfap54	UTSW	10	93,065,225 (GRCm38)	missense	probably damaging	0.97
R0011:Cfap54	UTSW	10	93,065,225 (GRCm38)	missense	probably damaging	0.97
R0032:Cfap54	UTSW	10	92,932,697 (GRCm38)	missense	probably benign	0.04
R0032:Cfap54	UTSW	10	92,932,697 (GRCm38)	missense	probably benign	0.04
R0040:Cfap54	UTSW	10	92,977,039 (GRCm38)	missense	probably benign	0.33
R0044:Cfap54	UTSW	10	93,035,433 (GRCm38)	missense	probably null	0.46
R0086:Cfap54	UTSW	10	93,028,594 (GRCm38)	missense	possibly damaging	0.86
R0104:Cfap54	UTSW	10	93,028,652 (GRCm38)	missense	probably damaging	1.00
R0194:Cfap54	UTSW	10	93,034,662 (GRCm38)	unclassified	probably benign
R0234:Cfap54	UTSW	10	92,899,160 (GRCm38)	nonsense	probably null
R0308:Cfap54	UTSW	10	92,885,364 (GRCm38)	missense	unknown
R0332:Cfap54	UTSW	10	93,035,457 (GRCm38)	missense	probably damaging	1.00
R0409:Cfap54	UTSW	10	92,776,213 (GRCm38)	missense	probably benign	0.00
R0433:Cfap54	UTSW	10	92,979,080 (GRCm38)	splice site	probably benign
R0436:Cfap54	UTSW	10	93,038,975 (GRCm38)	missense	possibly damaging	0.95
R0463:Cfap54	UTSW	10	92,874,943 (GRCm38)	critical splice donor site	probably null
R0523:Cfap54	UTSW	10	92,908,883 (GRCm38)	utr 3 prime	probably benign
R0551:Cfap54	UTSW	10	93,025,122 (GRCm38)	missense	probably benign	0.35
R0595:Cfap54	UTSW	10	92,884,736 (GRCm38)	missense	unknown
R0617:Cfap54	UTSW	10	92,829,650 (GRCm38)	splice site	probably benign
R0632:Cfap54	UTSW	10	92,885,096 (GRCm38)	missense	unknown
R0730:Cfap54	UTSW	10	93,034,737 (GRCm38)	missense	probably benign	0.05
R0786:Cfap54	UTSW	10	92,967,535 (GRCm38)	missense	possibly damaging	0.72
R0883:Cfap54	UTSW	10	92,870,669 (GRCm38)	missense	unknown
R1004:Cfap54	UTSW	10	93,066,696 (GRCm38)	splice site	probably benign
R1033:Cfap54	UTSW	10	92,839,449 (GRCm38)	missense	probably benign	0.07
R1168:Cfap54	UTSW	10	92,937,920 (GRCm38)	missense	probably damaging	0.99
R1186:Cfap54	UTSW	10	92,875,994 (GRCm38)	missense	unknown
R1429:Cfap54	UTSW	10	92,821,038 (GRCm38)	missense	probably benign	0.01
R1443:Cfap54	UTSW	10	92,932,721 (GRCm38)	missense	probably damaging	1.00
R1557:Cfap54	UTSW	10	92,984,227 (GRCm38)	missense	possibly damaging	0.68
R1687:Cfap54	UTSW	10	92,932,640 (GRCm38)	missense	probably damaging	1.00
R1690:Cfap54	UTSW	10	93,035,442 (GRCm38)	missense	possibly damaging	0.95
R1711:Cfap54	UTSW	10	93,011,020 (GRCm38)	missense	probably damaging	1.00
R1756:Cfap54	UTSW	10	93,048,061 (GRCm38)	missense	probably damaging	1.00
R1769:Cfap54	UTSW	10	92,904,263 (GRCm38)	critical splice donor site	probably null
R1835:Cfap54	UTSW	10	92,962,375 (GRCm38)	missense	probably benign	0.35
R1889:Cfap54	UTSW	10	93,034,710 (GRCm38)	missense	possibly damaging	0.94
R1915:Cfap54	UTSW	10	92,884,702 (GRCm38)	missense	unknown
R1958:Cfap54	UTSW	10	92,997,342 (GRCm38)	missense	probably benign	0.18
R2005:Cfap54	UTSW	10	92,884,768 (GRCm38)	missense	unknown
R2018:Cfap54	UTSW	10	93,016,604 (GRCm38)	missense	probably benign	0.00
R2045:Cfap54	UTSW	10	93,038,809 (GRCm38)	splice site	probably null
R2059:Cfap54	UTSW	10	92,942,979 (GRCm38)	unclassified	probably benign
R2100:Cfap54	UTSW	10	93,001,937 (GRCm38)	missense	possibly damaging	0.84
R2110:Cfap54	UTSW	10	92,886,367 (GRCm38)	missense	unknown
R2392:Cfap54	UTSW	10	93,025,011 (GRCm38)	critical splice donor site	probably null
R2508:Cfap54	UTSW	10	92,997,374 (GRCm38)	missense	possibly damaging	0.72
R2852:Cfap54	UTSW	10	92,940,155 (GRCm38)	missense	probably damaging	1.00
R2857:Cfap54	UTSW	10	93,045,282 (GRCm38)	missense	probably damaging	0.99
R2871:Cfap54	UTSW	10	92,921,419 (GRCm38)	missense	possibly damaging	0.86
R2871:Cfap54	UTSW	10	92,921,419 (GRCm38)	missense	possibly damaging	0.86
R3107:Cfap54	UTSW	10	92,994,683 (GRCm38)	missense	probably benign	0.04
R3108:Cfap54	UTSW	10	92,994,683 (GRCm38)	missense	probably benign	0.04
R3157:Cfap54	UTSW	10	92,999,056 (GRCm38)	missense	probably benign	0.03
R3158:Cfap54	UTSW	10	92,999,056 (GRCm38)	missense	probably benign	0.03
R3159:Cfap54	UTSW	10	92,999,056 (GRCm38)	missense	probably benign	0.03
R3161:Cfap54	UTSW	10	93,045,278 (GRCm38)	missense	probably damaging	1.00
R3162:Cfap54	UTSW	10	93,045,278 (GRCm38)	missense	probably damaging	1.00
R3162:Cfap54	UTSW	10	93,045,278 (GRCm38)	missense	probably damaging	1.00
R3508:Cfap54	UTSW	10	92,885,424 (GRCm38)	missense	unknown
R3730:Cfap54	UTSW	10	93,011,473 (GRCm38)	nonsense	probably null
R3770:Cfap54	UTSW	10	92,878,536 (GRCm38)	missense	unknown
R3776:Cfap54	UTSW	10	93,045,100 (GRCm38)	missense	probably damaging	1.00
R3778:Cfap54	UTSW	10	92,904,344 (GRCm38)	utr 3 prime	probably benign
R3795:Cfap54	UTSW	10	92,942,873 (GRCm38)	unclassified	probably benign
R3834:Cfap54	UTSW	10	92,801,123 (GRCm38)	splice site	probably benign
R3891:Cfap54	UTSW	10	93,038,846 (GRCm38)	missense	possibly damaging	0.87
R3932:Cfap54	UTSW	10	92,829,757 (GRCm38)	missense	probably benign	0.03
R3973:Cfap54	UTSW	10	92,839,471 (GRCm38)	missense	possibly damaging	0.95
R3974:Cfap54	UTSW	10	92,839,471 (GRCm38)	missense	possibly damaging	0.95
R3976:Cfap54	UTSW	10	92,839,471 (GRCm38)	missense	possibly damaging	0.95
R3978:Cfap54	UTSW	10	92,962,412 (GRCm38)	missense	probably benign	0.01
R4190:Cfap54	UTSW	10	92,885,023 (GRCm38)	missense	unknown
R4389:Cfap54	UTSW	10	92,967,500 (GRCm38)	missense	probably benign	0.37
R4542:Cfap54	UTSW	10	93,025,129 (GRCm38)	missense	probably benign	0.12
R4564:Cfap54	UTSW	10	92,839,540 (GRCm38)	unclassified	probably benign
R4576:Cfap54	UTSW	10	93,043,228 (GRCm38)	critical splice donor site	probably null
R4620:Cfap54	UTSW	10	92,969,757 (GRCm38)	missense	probably benign	0.01
R4714:Cfap54	UTSW	10	92,815,918 (GRCm38)	missense	probably benign	0.01
R4762:Cfap54	UTSW	10	93,061,453 (GRCm38)	splice site	probably null
R4776:Cfap54	UTSW	10	92,972,694 (GRCm38)	missense	possibly damaging	0.96
R4819:Cfap54	UTSW	10	92,836,477 (GRCm38)	nonsense	probably null
R4827:Cfap54	UTSW	10	92,902,075 (GRCm38)	utr 3 prime	probably benign
R4832:Cfap54	UTSW	10	92,967,528 (GRCm38)	missense	probably benign	0.01
R4965:Cfap54	UTSW	10	93,066,799 (GRCm38)	missense	probably benign	0.23
R5001:Cfap54	UTSW	10	92,964,534 (GRCm38)	missense	probably benign	0.01
R5060:Cfap54	UTSW	10	93,039,151 (GRCm38)	missense	probably damaging	1.00
R5067:Cfap54	UTSW	10	93,066,766 (GRCm38)	missense	probably benign	0.17
R5069:Cfap54	UTSW	10	92,937,774 (GRCm38)	missense	probably benign
R5094:Cfap54	UTSW	10	92,898,999 (GRCm38)	utr 3 prime	probably benign
R5109:Cfap54	UTSW	10	92,937,891 (GRCm38)	missense	probably benign	0.03
R5127:Cfap54	UTSW	10	92,886,387 (GRCm38)	splice site	probably null
R5143:Cfap54	UTSW	10	93,029,158 (GRCm38)	missense	possibly damaging	0.73
R5147:Cfap54	UTSW	10	92,937,838 (GRCm38)	missense	probably benign	0.00
R5158:Cfap54	UTSW	10	93,065,197 (GRCm38)	missense	probably damaging	1.00
R5256:Cfap54	UTSW	10	93,045,023 (GRCm38)	splice site	probably null
R5256:Cfap54	UTSW	10	92,935,091 (GRCm38)	nonsense	probably null
R5266:Cfap54	UTSW	10	92,815,902 (GRCm38)	missense	probably benign	0.16
R5304:Cfap54	UTSW	10	92,821,106 (GRCm38)	missense	probably damaging	0.97
R5369:Cfap54	UTSW	10	93,061,257 (GRCm38)	intron	probably benign
R5406:Cfap54	UTSW	10	93,001,858 (GRCm38)	missense	probably benign	0.33
R5471:Cfap54	UTSW	10	93,028,660 (GRCm38)	missense	probably damaging	1.00
R5485:Cfap54	UTSW	10	93,029,117 (GRCm38)	missense	probably damaging	1.00
R5540:Cfap54	UTSW	10	92,972,608 (GRCm38)	missense	possibly damaging	0.85
R5586:Cfap54	UTSW	10	92,972,611 (GRCm38)	nonsense	probably null
R5614:Cfap54	UTSW	10	93,045,049 (GRCm38)	missense	probably damaging	1.00
R5634:Cfap54	UTSW	10	92,904,263 (GRCm38)	critical splice donor site	probably benign
R5680:Cfap54	UTSW	10	92,979,017 (GRCm38)	nonsense	probably null
R5797:Cfap54	UTSW	10	92,967,576 (GRCm38)	missense	probably benign	0.11
R5859:Cfap54	UTSW	10	93,016,524 (GRCm38)	nonsense	probably null
R5878:Cfap54	UTSW	10	92,964,561 (GRCm38)	missense	probably benign	0.01
R5910:Cfap54	UTSW	10	93,065,181 (GRCm38)	missense	probably damaging	0.99
R5936:Cfap54	UTSW	10	92,962,412 (GRCm38)	missense	probably benign	0.01
R5994:Cfap54	UTSW	10	93,039,081 (GRCm38)	missense	probably damaging	0.99
R6080:Cfap54	UTSW	10	93,045,335 (GRCm38)	missense	possibly damaging	0.64
R6268:Cfap54	UTSW	10	93,038,909 (GRCm38)	missense	probably damaging	1.00
R6296:Cfap54	UTSW	10	93,066,846 (GRCm38)	missense	probably damaging	1.00
R6409:Cfap54	UTSW	10	92,967,492 (GRCm38)	missense	probably benign	0.04
R6545:Cfap54	UTSW	10	92,836,457 (GRCm38)	missense	probably benign	0.31
R6570:Cfap54	UTSW	10	92,815,958 (GRCm38)	missense	unknown
R6597:Cfap54	UTSW	10	92,999,040 (GRCm38)	missense	possibly damaging	0.85
R6702:Cfap54	UTSW	10	92,868,734 (GRCm38)	missense	unknown
R6703:Cfap54	UTSW	10	92,868,734 (GRCm38)	missense	unknown
R6720:Cfap54	UTSW	10	92,821,119 (GRCm38)	missense	probably benign	0.07
R6841:Cfap54	UTSW	10	92,875,015 (GRCm38)	missense	unknown
R6910:Cfap54	UTSW	10	92,836,512 (GRCm38)	missense	probably benign	0.29
R6953:Cfap54	UTSW	10	92,994,678 (GRCm38)	missense	probably benign	0.19
R7009:Cfap54	UTSW	10	92,875,019 (GRCm38)	missense	unknown
R7129:Cfap54	UTSW	10	93,016,571 (GRCm38)	missense	probably benign	0.06
R7131:Cfap54	UTSW	10	92,821,104 (GRCm38)	missense	probably benign	0.03
R7171:Cfap54	UTSW	10	92,776,210 (GRCm38)	missense	probably damaging	0.99
R7189:Cfap54	UTSW	10	92,937,728 (GRCm38)	missense	unknown
R7225:Cfap54	UTSW	10	92,904,374 (GRCm38)	missense	unknown
R7270:Cfap54	UTSW	10	92,839,458 (GRCm38)	missense	probably benign	0.03
R7323:Cfap54	UTSW	10	92,801,138 (GRCm38)	missense	probably benign	0.00
R7380:Cfap54	UTSW	10	93,047,978 (GRCm38)	missense	probably damaging	1.00
R7395:Cfap54	UTSW	10	92,884,703 (GRCm38)	missense	unknown
R7411:Cfap54	UTSW	10	92,868,755 (GRCm38)	missense	unknown
R7503:Cfap54	UTSW	10	92,887,436 (GRCm38)	splice site	probably null
R7622:Cfap54	UTSW	10	92,956,944 (GRCm38)	missense	unknown
R7679:Cfap54	UTSW	10	92,967,512 (GRCm38)	missense	probably benign	0.01
R7776:Cfap54	UTSW	10	92,868,741 (GRCm38)	missense	unknown
R7844:Cfap54	UTSW	10	92,902,058 (GRCm38)	missense	unknown
R7980:Cfap54	UTSW	10	92,982,060 (GRCm38)	missense	possibly damaging	0.95
R7988:Cfap54	UTSW	10	92,902,079 (GRCm38)	missense	unknown
R8101:Cfap54	UTSW	10	92,884,796 (GRCm38)	missense	unknown
R8119:Cfap54	UTSW	10	92,868,810 (GRCm38)	missense	unknown
R8134:Cfap54	UTSW	10	92,878,516 (GRCm38)	missense	unknown
R8168:Cfap54	UTSW	10	92,908,877 (GRCm38)	missense	unknown
R8179:Cfap54	UTSW	10	92,997,316 (GRCm38)	missense	possibly damaging	0.68
R8392:Cfap54	UTSW	10	92,962,417 (GRCm38)	missense	unknown
R8436:Cfap54	UTSW	10	92,964,536 (GRCm38)	missense	unknown
R8505:Cfap54	UTSW	10	92,978,993 (GRCm38)	missense	probably benign	0.03
R8671:Cfap54	UTSW	10	92,955,072 (GRCm38)	missense	unknown
R8716:Cfap54	UTSW	10	92,964,632 (GRCm38)	missense	probably benign	0.00
R8816:Cfap54	UTSW	10	92,878,592 (GRCm38)	missense	unknown
R8822:Cfap54	UTSW	10	93,039,141 (GRCm38)	missense	probably benign	0.09
R8827:Cfap54	UTSW	10	92,938,248 (GRCm38)	missense	unknown
R8920:Cfap54	UTSW	10	92,940,337 (GRCm38)	critical splice acceptor site	probably null
R8924:Cfap54	UTSW	10	93,001,823 (GRCm38)	missense	probably damaging	0.99
R8954:Cfap54	UTSW	10	93,043,393 (GRCm38)	missense	probably damaging	1.00
R8963:Cfap54	UTSW	10	93,028,700 (GRCm38)	nonsense	probably null
R9010:Cfap54	UTSW	10	92,899,059 (GRCm38)	missense	unknown
R9017:Cfap54	UTSW	10	92,816,021 (GRCm38)	missense	probably benign	0.07
R9093:Cfap54	UTSW	10	92,815,908 (GRCm38)	missense	probably benign	0.03
R9095:Cfap54	UTSW	10	93,011,020 (GRCm38)	missense	probably damaging	1.00
R9142:Cfap54	UTSW	10	92,984,235 (GRCm38)	missense	possibly damaging	0.87
R9178:Cfap54	UTSW	10	92,994,717 (GRCm38)	missense	probably benign	0.10
R9196:Cfap54	UTSW	10	93,037,891 (GRCm38)	missense	probably benign	0.22
R9203:Cfap54	UTSW	10	93,045,128 (GRCm38)	missense	probably benign	0.30
R9258:Cfap54	UTSW	10	92,935,098 (GRCm38)	missense	unknown
R9275:Cfap54	UTSW	10	93,039,186 (GRCm38)	missense	possibly damaging	0.86
R9287:Cfap54	UTSW	10	92,969,703 (GRCm38)	missense	possibly damaging	0.50
R9289:Cfap54	UTSW	10	92,821,074 (GRCm38)	missense	possibly damaging	0.83
R9310:Cfap54	UTSW	10	92,962,315 (GRCm38)	missense	unknown
R9397:Cfap54	UTSW	10	92,997,285 (GRCm38)	missense	probably damaging	0.96
R9462:Cfap54	UTSW	10	92,902,058 (GRCm38)	missense	unknown
R9697:Cfap54	UTSW	10	92,956,989 (GRCm38)	missense	unknown
R9746:Cfap54	UTSW	10	92,801,219 (GRCm38)	missense	probably benign	0.03
R9755:Cfap54	UTSW	10	92,921,368 (GRCm38)	missense	unknown
X0022:Cfap54	UTSW	10	92,932,614 (GRCm38)	missense	probably damaging	1.00
X0022:Cfap54	UTSW	10	92,878,603 (GRCm38)	missense	unknown
X0027:Cfap54	UTSW	10	93,001,888 (GRCm38)	missense	possibly damaging	0.86
X0027:Cfap54	UTSW	10	92,878,538 (GRCm38)	missense	unknown
Z1177:Cfap54	UTSW	10	92,979,026 (GRCm38)	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

2014-03-28