Mutagenetix > Incidental Mutation

Incidental Mutation 'R2508:Cfap54'

251574

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

040414-MU

Accession Numbers

Essential gene?

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

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92775619-93081618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92997374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1130 (E1130G)

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: E1130G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: E1130G

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

possibly damaging
Transcript: ENSMUST00000212902
AA Change: E1130G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,393 (GRCm38)	T20I	probably benign	Het
Adamts2	C	T	11: 50,788,689 (GRCm38)	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,589,550 (GRCm38)		probably null	Het
Ankrd61	T	C	5: 143,897,076 (GRCm38)		probably benign	Het
Anpep	T	G	7: 79,838,291 (GRCm38)	Y506S	possibly damaging	Het
Aox2	T	A	1: 58,343,673 (GRCm38)	H1037Q	probably benign	Het
Auh	G	A	13: 52,898,719 (GRCm38)	R47*	probably null	Het
B4galt5	T	A	2: 167,306,638 (GRCm38)	M187L	probably benign	Het
Bub1	A	T	2: 127,801,423 (GRCm38)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,626,448 (GRCm38)		probably null	Het
Cdh3	T	C	8: 106,552,407 (GRCm38)	L667P	probably damaging	Het
Cenpe	A	T	3: 135,241,073 (GRCm38)	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,073,341 (GRCm38)	M136L	possibly damaging	Het
Chd9	C	T	8: 91,033,987 (GRCm38)	P2120L	probably benign	Het
Clu	T	C	14: 65,975,003 (GRCm38)	V135A	probably damaging	Het
Cmip	T	A	8: 117,436,693 (GRCm38)	S388T	probably benign	Het
Cnga1	C	T	5: 72,619,061 (GRCm38)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 120,673,290 (GRCm38)	V51E	possibly damaging	Het
Crym	T	C	7: 120,201,827 (GRCm38)	N33S	probably benign	Het
Ctcf	T	A	8: 105,671,384 (GRCm38)	V434E	probably damaging	Het
D430042O09Rik	T	A	7: 125,795,343 (GRCm38)	V197D	probably benign	Het
Daam1	G	A	12: 71,975,223 (GRCm38)	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,145,152 (GRCm38)	Y383C	probably benign	Het
Dock2	T	C	11: 34,312,485 (GRCm38)	T957A	probably benign	Het
Duox1	A	G	2: 122,333,138 (GRCm38)	D817G	probably benign	Het
Fads3	A	G	19: 10,056,454 (GRCm38)	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,528,854 (GRCm38)		probably null	Het
Fbxw21	C	A	9: 109,145,485 (GRCm38)	K322N	probably benign	Het
Fdxr	G	A	11: 115,271,980 (GRCm38)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,247,612 (GRCm38)	P41A	probably damaging	Het
Glb1l	T	C	1: 75,201,829 (GRCm38)	T322A	probably damaging	Het
Gm6803	T	C	12: 88,018,488 (GRCm38)	Y95C	probably damaging	Het
Gm6871	T	A	7: 41,547,990 (GRCm38)	T149S	probably benign	Het
Gpr26	C	T	7: 131,967,094 (GRCm38)	T56I	probably damaging	Het
Grik4	C	A	9: 42,622,142 (GRCm38)	G361C	probably damaging	Het
Gsr	T	G	8: 33,680,288 (GRCm38)	D200E	probably benign	Het
Igsf5	T	A	16: 96,364,047 (GRCm38)	D7E	probably benign	Het
Inpp5e	T	A	2: 26,399,343 (GRCm38)	I522F	probably damaging	Het
Insm2	C	A	12: 55,600,311 (GRCm38)	T280K	probably benign	Het
Itih4	T	C	14: 30,895,478 (GRCm38)	V585A	probably damaging	Het
Knl1	A	T	2: 119,058,368 (GRCm38)	R17*	probably null	Het
Lag3	G	T	6: 124,911,309 (GRCm38)	L15I	possibly damaging	Het
Lepr	T	A	4: 101,790,896 (GRCm38)	S861T	probably damaging	Het
Mcur1	A	T	13: 43,544,465 (GRCm38)	Y320N	probably damaging	Het
Mgam	A	T	6: 40,759,783 (GRCm38)	D872V	probably damaging	Het
Mlycd	T	C	8: 119,407,707 (GRCm38)		probably null	Het
Mpl	C	A	4: 118,455,757 (GRCm38)	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,131,245 (GRCm38)	A4142S	probably damaging	Het
Myh1	T	A	11: 67,213,598 (GRCm38)	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,790,061 (GRCm38)	D11E	probably benign	Het
Neb	T	C	2: 52,195,521 (GRCm38)	I1521V	probably benign	Het
Notch1	A	G	2: 26,465,473 (GRCm38)	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,995,524 (GRCm38)	S236P	possibly damaging	Het
Olfr1056	A	G	2: 86,356,364 (GRCm38)	L6P	possibly damaging	Het
Olfr1181	T	C	2: 88,423,456 (GRCm38)	T190A	possibly damaging	Het
Olfr798	T	A	10: 129,625,915 (GRCm38)	I49L	probably benign	Het
Otogl	A	G	10: 107,874,500 (GRCm38)	L576P	probably damaging	Het
P2ry1	C	T	3: 61,003,479 (GRCm38)	T13M	probably damaging	Het
Pak6	A	T	2: 118,694,569 (GRCm38)	R559*	probably null	Het
Papd4	A	G	13: 93,184,218 (GRCm38)	L109S	probably damaging	Het
Parvb	A	T	15: 84,297,970 (GRCm38)	M234L	probably benign	Het
Pcdha11	T	C	18: 37,012,854 (GRCm38)	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,526,857 (GRCm38)	Y775*	probably null	Het
Pgam5	A	G	5: 110,266,003 (GRCm38)	L98P	probably damaging	Het
Phip	T	C	9: 82,915,339 (GRCm38)	H537R	possibly damaging	Het
Pkib	T	G	10: 57,728,109 (GRCm38)	D4E	probably damaging	Het
Plcb1	A	T	2: 135,260,508 (GRCm38)	I202F	probably benign	Het
Pold3	A	G	7: 100,121,383 (GRCm38)	V14A	probably damaging	Het
Prdm1	T	A	10: 44,446,807 (GRCm38)	T249S	probably benign	Het
Prpf39	T	A	12: 65,057,815 (GRCm38)	F551L	probably benign	Het
Prune2	A	G	19: 17,122,622 (GRCm38)	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,718,201 (GRCm38)	P889S	probably damaging	Het
Rassf2	A	T	2: 131,998,243 (GRCm38)		probably null	Het
Rnf185	A	G	11: 3,418,067 (GRCm38)	Y204H	probably benign	Het
Rpap1	A	G	2: 119,780,054 (GRCm38)		probably null	Het
Rufy3	T	C	5: 88,649,898 (GRCm38)	S645P	probably damaging	Het
Scn11a	T	A	9: 119,765,529 (GRCm38)	Y1266F	probably damaging	Het
Senp7	T	A	16: 56,151,362 (GRCm38)	H287Q	probably benign	Het
Sgsm3	T	C	15: 81,003,872 (GRCm38)		probably null	Het
Slc25a11	A	T	11: 70,645,832 (GRCm38)	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190 (GRCm38)	T175I	probably benign	Het
Slc26a3	T	A	12: 31,470,903 (GRCm38)	F702Y	probably damaging	Het
Smco2	T	A	6: 146,859,967 (GRCm38)	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,965,607 (GRCm38)	C90S	probably damaging	Het
Sspo	T	C	6: 48,464,364 (GRCm38)	S1835P	probably damaging	Het
Stk35	A	G	2: 129,801,515 (GRCm38)	T140A	probably damaging	Het
Syngr1	C	T	15: 80,111,740 (GRCm38)	T160M	probably damaging	Het
Tgfb1i1	A	G	7: 128,248,913 (GRCm38)		probably null	Het
Thoc1	T	A	18: 9,977,947 (GRCm38)	V296E	probably damaging	Het
Timp2	C	T	11: 118,310,586 (GRCm38)	C75Y	probably damaging	Het
Tlr1	T	C	5: 64,925,296 (GRCm38)	Y646C	probably damaging	Het
Tprn	G	A	2: 25,268,928 (GRCm38)	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,135,490 (GRCm38)	I74L	probably benign	Het
Trbv5	T	A	6: 41,062,621 (GRCm38)	Y53*	probably null	Het
Trpm5	T	C	7: 143,088,919 (GRCm38)	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,955,567 (GRCm38)	D88G	probably damaging	Het
Ucp2	A	T	7: 100,498,413 (GRCm38)	I200F	probably benign	Het
Unc45a	G	A	7: 80,338,875 (GRCm38)	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182 (GRCm38)	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,360,870 (GRCm38)	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,223,572 (GRCm38)	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,733,967 (GRCm38)	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,257,474 (GRCm38)	M225K	probably benign	Het
Wdr24	A	T	17: 25,824,299 (GRCm38)	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,624,783 (GRCm38)	T529S	probably benign	Het
Zc3h4	A	G	7: 16,434,339 (GRCm38)	H791R	unknown	Het
Zfp24	A	G	18: 24,017,870 (GRCm38)	L73P	probably damaging	Het
Zfp616	T	C	11: 74,083,295 (GRCm38)	I130T	probably benign	Het
Zim1	CAG	CAGAAG	7: 6,677,431 (GRCm38)		probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,677,430 (GRCm38)		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
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
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'- ACACATACCTTCCATGGAGGC -3'
(R):5'- AGGAATATGCTATGCACAAGTAGC -3'

Sequencing Primer
(F):5'- CTTCCATGGAGGCTGGGG -3'
(R):5'- GAGAGTCCTTTCTAGATTCAGACTG -3'

Posted On

2014-12-04