Mutagenetix > Incidental Mutation

Incidental Mutation 'R1711:Cfap54'

190593

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

039744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92775619-93081618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 93011020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 1028 (T1028P)

Ref Sequence

ENSEMBL: ENSMUSP00000148636 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168110
AA Change: T1028P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: T1028P

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 damaging
Transcript: ENSMUST00000212902
AA Change: T1028P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920 (GRCm38)	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573 (GRCm38)	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165 (GRCm38)	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624 (GRCm38)	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974 (GRCm38)		probably null	Het
Ap3s2	A	T	7: 79,880,490 (GRCm38)	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979 (GRCm38)		probably null	Het
Arhgap5	A	G	12: 52,519,345 (GRCm38)	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947 (GRCm38)	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865 (GRCm38)	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486 (GRCm38)	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056 (GRCm38)	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978 (GRCm38)	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609 (GRCm38)	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342 (GRCm38)	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536 (GRCm38)	V261E	probably benign	Het
Ch25h	C	A	19: 34,474,286 (GRCm38)	V281L	probably benign	Het
Clu	G	T	14: 65,980,905 (GRCm38)	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213 (GRCm38)	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374 (GRCm38)		probably null	Het
Ctr9	T	C	7: 111,055,663 (GRCm38)	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810 (GRCm38)	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891 (GRCm38)	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712 (GRCm38)	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610 (GRCm38)	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497 (GRCm38)	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571 (GRCm38)	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926 (GRCm38)	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693 (GRCm38)	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831 (GRCm38)	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915 (GRCm38)	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308 (GRCm38)		probably benign	Het
Ercc6	T	C	14: 32,526,176 (GRCm38)	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247 (GRCm38)	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414 (GRCm38)	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479 (GRCm38)	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460 (GRCm38)	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688 (GRCm38)	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406 (GRCm38)	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026 (GRCm38)	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952 (GRCm38)		probably null	Het
Gucy1a2	G	T	9: 3,759,622 (GRCm38)	R476I	probably benign	Het
Hars	A	G	18: 36,771,103 (GRCm38)	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903 (GRCm38)	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246 (GRCm38)	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592 (GRCm38)	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525 (GRCm38)	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158 (GRCm38)	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522 (GRCm38)	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619 (GRCm38)	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461 (GRCm38)	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157 (GRCm38)	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569 (GRCm38)	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621 (GRCm38)	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058 (GRCm38)	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276 (GRCm38)	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352 (GRCm38)	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422 (GRCm38)	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735 (GRCm38)		probably null	Het
Mylk3	T	A	8: 85,364,831 (GRCm38)	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754 (GRCm38)	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336 (GRCm38)	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306 (GRCm38)	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999 (GRCm38)	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162 (GRCm38)	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699 (GRCm38)	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760 (GRCm38)	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285 (GRCm38)	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218 (GRCm38)	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852 (GRCm38)	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327 (GRCm38)	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518 (GRCm38)	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794 (GRCm38)	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511 (GRCm38)	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409 (GRCm38)	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714 (GRCm38)		probably null	Het
Pik3c2a	A	T	7: 116,417,927 (GRCm38)	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310 (GRCm38)	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492 (GRCm38)	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406 (GRCm38)	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699 (GRCm38)	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519 (GRCm38)	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981 (GRCm38)	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101 (GRCm38)	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293 (GRCm38)	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289 (GRCm38)	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748 (GRCm38)	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709 (GRCm38)	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096 (GRCm38)	Y61F	probably benign	Het
Son	A	G	16: 91,660,226 (GRCm38)		probably benign	Het
Sparc	T	A	11: 55,395,776 (GRCm38)		probably null	Het
Spon2	A	G	5: 33,216,385 (GRCm38)	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042 (GRCm38)	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925 (GRCm38)	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304 (GRCm38)	S958R	probably benign	Het
Stom	T	A	2: 35,315,917 (GRCm38)	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477 (GRCm38)	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926 (GRCm38)	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658 (GRCm38)	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837 (GRCm38)	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585 (GRCm38)	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744 (GRCm38)	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561 (GRCm38)	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720 (GRCm38)	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097 (GRCm38)	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037 (GRCm38)	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128 (GRCm38)	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684 (GRCm38)	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148 (GRCm38)	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673 (GRCm38)	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889 (GRCm38)	M191V	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
R1467:Cfap54	UTSW	10	92,969,763 (GRCm38)	missense	probably benign	0.01
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
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'- GCATTGCCATAGTTCCCAAAACGTC -3'
(R):5'- TTTCCGTTCACAGATACCAGCCG -3'

Sequencing Primer
(F):5'- CTATAGAAGGCAAATTCACTAACGG -3'
(R):5'- CAGATACCAGCCGATGGCAG -3'

Posted On

2014-05-14