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: 0.086) question?

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92611481-92917480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92833236 bp (GRCm39)

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: 120,872,132 (GRCm39)	T20I	probably benign	Het
Adamts2	C	T	11: 50,679,516 (GRCm39)	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,239,298 (GRCm39)		probably null	Het
Ankrd61	T	C	5: 143,833,894 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,039 (GRCm39)	Y506S	possibly damaging	Het
Aox1	T	A	1: 58,382,832 (GRCm39)	H1037Q	probably benign	Het
Auh	G	A	13: 53,052,755 (GRCm39)	R47*	probably null	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,279,039 (GRCm39)	L667P	probably damaging	Het
Cenpe	A	T	3: 134,946,834 (GRCm39)	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,799,969 (GRCm39)	M136L	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clu	T	C	14: 66,212,452 (GRCm39)	V135A	probably damaging	Het
Cmip	T	A	8: 118,163,432 (GRCm39)	S388T	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Crym	T	C	7: 119,801,050 (GRCm39)	N33S	probably benign	Het
Ctcf	T	A	8: 106,398,016 (GRCm39)	V434E	probably damaging	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,008,547 (GRCm39)	Y383C	probably benign	Het
Dock2	T	C	11: 34,262,485 (GRCm39)	T957A	probably benign	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Eif1ad16	T	C	12: 87,985,258 (GRCm39)	Y95C	probably damaging	Het
Fads3	A	G	19: 10,033,818 (GRCm39)	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,456,592 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,974,553 (GRCm39)	K322N	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Glb1l	T	C	1: 75,178,473 (GRCm39)	T322A	probably damaging	Het
Gm6871	T	A	7: 41,197,414 (GRCm39)	T149S	probably benign	Het
Gpr26	C	T	7: 131,568,823 (GRCm39)	T56I	probably damaging	Het
Grik4	C	A	9: 42,533,438 (GRCm39)	G361C	probably damaging	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Igsf5	T	A	16: 96,165,247 (GRCm39)	D7E	probably benign	Het
Inpp5e	T	A	2: 26,289,355 (GRCm39)	I522F	probably damaging	Het
Insm2	C	A	12: 55,647,096 (GRCm39)	T280K	probably benign	Het
Itih4	T	C	14: 30,617,435 (GRCm39)	V585A	probably damaging	Het
Katnip	T	A	7: 125,394,515 (GRCm39)	V197D	probably benign	Het
Knl1	A	T	2: 118,888,849 (GRCm39)	R17*	probably null	Het
Lag3	G	T	6: 124,888,272 (GRCm39)	L15I	possibly damaging	Het
Lepr	T	A	4: 101,648,093 (GRCm39)	S861T	probably damaging	Het
Mcur1	A	T	13: 43,697,941 (GRCm39)	Y320N	probably damaging	Het
Mgam	A	T	6: 40,736,717 (GRCm39)	D872V	probably damaging	Het
Mlycd	T	C	8: 120,134,446 (GRCm39)		probably null	Het
Mpl	C	A	4: 118,312,954 (GRCm39)	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,368,681 (GRCm39)	A4142S	probably damaging	Het
Myh1	T	A	11: 67,104,424 (GRCm39)	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Neb	T	C	2: 52,085,533 (GRCm39)	I1521V	probably benign	Het
Notch1	A	G	2: 26,355,485 (GRCm39)	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4p20	T	C	2: 88,253,800 (GRCm39)	T190A	possibly damaging	Het
Or6c66	T	A	10: 129,461,784 (GRCm39)	I49L	probably benign	Het
Or8k23	A	G	2: 86,186,708 (GRCm39)	L6P	possibly damaging	Het
Otogl	A	G	10: 107,710,361 (GRCm39)	L576P	probably damaging	Het
P2ry1	C	T	3: 60,910,900 (GRCm39)	T13M	probably damaging	Het
Pak6	A	T	2: 118,525,050 (GRCm39)	R559*	probably null	Het
Parvb	A	T	15: 84,182,171 (GRCm39)	M234L	probably benign	Het
Pcdha11	T	C	18: 37,145,907 (GRCm39)	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,126,092 (GRCm39)	Y775*	probably null	Het
Pgam5	A	G	5: 110,413,869 (GRCm39)	L98P	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkib	T	G	10: 57,604,205 (GRCm39)	D4E	probably damaging	Het
Plcb1	A	T	2: 135,102,428 (GRCm39)	I202F	probably benign	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Prdm1	T	A	10: 44,322,803 (GRCm39)	T249S	probably benign	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rassf2	A	T	2: 131,840,163 (GRCm39)		probably null	Het
Rnf185	A	G	11: 3,368,067 (GRCm39)	Y204H	probably benign	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Scn11a	T	A	9: 119,594,595 (GRCm39)	Y1266F	probably damaging	Het
Senp7	T	A	16: 55,971,725 (GRCm39)	H287Q	probably benign	Het
Sgsm3	T	C	15: 80,888,073 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,658 (GRCm39)	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190 (GRCm39)	T175I	probably benign	Het
Slc26a3	T	A	12: 31,520,902 (GRCm39)	F702Y	probably damaging	Het
Smco2	T	A	6: 146,761,465 (GRCm39)	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,994,461 (GRCm39)	C90S	probably damaging	Het
Sspo	T	C	6: 48,441,298 (GRCm39)	S1835P	probably damaging	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Syngr1	C	T	15: 79,995,941 (GRCm39)	T160M	probably damaging	Het
Tent2	A	G	13: 93,320,726 (GRCm39)	L109S	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,085 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,977,947 (GRCm39)	V296E	probably damaging	Het
Timp2	C	T	11: 118,201,412 (GRCm39)	C75Y	probably damaging	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tprn	G	A	2: 25,158,940 (GRCm39)	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,112,424 (GRCm39)	I74L	probably benign	Het
Trbv5	T	A	6: 41,039,555 (GRCm39)	Y53*	probably null	Het
Trpm5	T	C	7: 142,642,656 (GRCm39)	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,932,931 (GRCm39)	D88G	probably damaging	Het
Ucp2	A	T	7: 100,147,620 (GRCm39)	I200F	probably benign	Het
Unc45a	G	A	7: 79,988,623 (GRCm39)	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182 (GRCm39)	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,337,855 (GRCm39)	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,200,554 (GRCm39)	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,954,229 (GRCm39)	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,477,736 (GRCm39)	M225K	probably benign	Het
Wdr24	A	T	17: 26,043,273 (GRCm39)	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,552,521 (GRCm39)	T529S	probably benign	Het
Zc3h4	A	G	7: 16,168,264 (GRCm39)	H791R	unknown	Het
Zfp24	A	G	18: 24,150,927 (GRCm39)	L73P	probably damaging	Het
Zfp616	T	C	11: 73,974,121 (GRCm39)	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,680,429 (GRCm39)		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,680,430 (GRCm39)		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
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
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'- ACACATACCTTCCATGGAGGC -3'
(R):5'- AGGAATATGCTATGCACAAGTAGC -3'

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

Posted On

2014-12-04