Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Cfap54'

345250

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

042008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4620 (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 92805619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1497 (H1497L)

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: H1497L

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

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: H1497L

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: H1497L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,335 (GRCm39)	Y433*	probably null	Het
Apba2	C	T	7: 64,364,215 (GRCm39)	R331C	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
B3gnt5	A	T	16: 19,588,632 (GRCm39)	M284L	probably benign	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Blvra	T	C	2: 126,938,885 (GRCm39)	I287T	probably damaging	Het
Capn5	T	C	7: 97,778,578 (GRCm39)	Y347C	probably damaging	Het
Cdcp2	A	G	4: 106,963,927 (GRCm39)	E259G	probably damaging	Het
Cdh2	A	G	18: 16,781,665 (GRCm39)	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,184,943 (GRCm39)	I1169T	probably benign	Het
Cenpj	A	G	14: 56,772,911 (GRCm39)	V1043A	probably damaging	Het
Chat	A	G	14: 32,175,775 (GRCm39)	M95T	probably damaging	Het
Csmd1	T	C	8: 16,052,694 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,449,149 (GRCm39)	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,701,006 (GRCm39)		probably null	Het
Dll1	C	T	17: 15,590,828 (GRCm39)	A332T	probably benign	Het
Dmrta1	A	T	4: 89,577,021 (GRCm39)	Q159L	probably benign	Het
Dnai3	A	T	3: 145,748,564 (GRCm39)	L850Q	probably damaging	Het
Eci3	A	T	13: 35,132,741 (GRCm39)	M212K	probably damaging	Het
Eml4	T	C	17: 83,768,962 (GRCm39)	F557L	probably benign	Het
Fat3	A	T	9: 15,908,190 (GRCm39)	V2604D	probably damaging	Het
Frem3	T	C	8: 81,395,586 (GRCm39)	V1871A	possibly damaging	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
H2-M3	C	A	17: 37,583,310 (GRCm39)	T257K	probably damaging	Het
Hdgf	A	G	3: 87,821,883 (GRCm39)	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,236,599 (GRCm39)	N226Y	probably damaging	Het
Itgav	T	C	2: 83,586,246 (GRCm39)	Y169H	probably benign	Het
Kalrn	T	G	16: 33,849,075 (GRCm39)	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kif6	T	C	17: 50,208,324 (GRCm39)	V735A	probably benign	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Megf8	G	A	7: 25,054,523 (GRCm39)	A1880T	possibly damaging	Het
Miox	A	T	15: 89,220,324 (GRCm39)	Y172F	probably benign	Het
Myo18a	G	A	11: 77,708,773 (GRCm39)	R48H	possibly damaging	Het
Ndufb7	T	C	8: 84,293,487 (GRCm39)	S14P	probably damaging	Het
Npepps	A	T	11: 97,129,070 (GRCm39)	H371Q	probably damaging	Het
Or10d5j	C	T	9: 39,868,205 (GRCm39)	V9M	probably damaging	Het
Or52e15	T	A	7: 104,645,830 (GRCm39)	I94F	probably damaging	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or8b12c	A	G	9: 37,716,115 (GRCm39)	T303A	probably benign	Het
Orc5	A	T	5: 22,734,174 (GRCm39)	D203E	probably damaging	Het
Pappa	A	G	4: 65,245,265 (GRCm39)	T1518A	probably benign	Het
Pde6a	A	G	18: 61,395,563 (GRCm39)	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,750,718 (GRCm39)	V136I	possibly damaging	Het
Postn	A	C	3: 54,284,414 (GRCm39)	D627A	probably damaging	Het
Prpf39	T	C	12: 65,089,337 (GRCm39)	V25A	probably benign	Het
Pxdc1	A	G	13: 34,836,297 (GRCm39)	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,644,243 (GRCm39)	E514V	probably damaging	Het
Rag1	A	T	2: 101,474,025 (GRCm39)	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,057,968 (GRCm39)		probably benign	Het
Rexo5	A	G	7: 119,426,526 (GRCm39)	I317V	probably benign	Het
Rragc	A	G	4: 123,818,622 (GRCm39)	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,191,129 (GRCm39)	S187P	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Slfn5	G	A	11: 82,852,478 (GRCm39)	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,194,838 (GRCm39)	A722T	probably benign	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Themis2	A	G	4: 132,513,333 (GRCm39)	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,952 (GRCm39)	N37T	probably benign	Het
Tmem62	A	G	2: 120,826,845 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,941,853 (GRCm39)	M75I	probably benign	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698 (GRCm39)	G64E	probably damaging	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,054,011 (GRCm39)	F1603Y	probably damaging	Het
Xpo4	A	T	14: 57,867,782 (GRCm39)	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,662,178 (GRCm39)	Y792*	probably null	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
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
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'- ACCACACTGGACATTATTGAGC -3'
(R):5'- TCCCTTGGCAGAAACAAGAG -3'

Sequencing Primer
(F):5'- CGATGACCAGTGTAATGTAGACATTC -3'
(R):5'- CCTTGGCAGAAACAAGAGAACGG -3'

Posted On

2015-09-25