Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Cfap54'

194873

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

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

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92611481-92917480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92883923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 277 (L277Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020200] [ENSMUST00000168110] [ENSMUST00000168617] [ENSMUST00000212902]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020200
AA Change: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020200
Gene: ENSMUSG00000020014
AA Change: L277Q

Domain	Start	End	E-Value	Type
low complexity region	3	37	N/A	INTRINSIC
low complexity region	39	48	N/A	INTRINSIC
Pfam:DUF4486	103	643	3e-298	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168110
AA Change: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: L277Q

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 damaging
Transcript: ENSMUST00000168617
AA Change: L229Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127905
Gene: ENSMUSG00000020014
AA Change: L229Q

Domain	Start	End	E-Value	Type
low complexity region	3	37	N/A	INTRINSIC
low complexity region	39	48	N/A	INTRINSIC
Pfam:DUF4486	103	148	4.3e-22	PFAM
Pfam:DUF4486	145	595	1.6e-244	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212902
AA Change: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1675

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	C	A	8: 100,148,514 (GRCm39)		noncoding transcript	Het
Acin1	A	G	14: 54,902,661 (GRCm39)	V377A	probably benign	Het
Adam39	A	T	8: 41,278,361 (GRCm39)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,170,912 (GRCm39)	*1166K	probably null	Het
Akap12	T	A	10: 4,307,574 (GRCm39)	D1461E	probably benign	Het
Aopep	T	A	13: 63,215,875 (GRCm39)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,871,056 (GRCm39)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,277,671 (GRCm39)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,640,122 (GRCm39)	M163I	probably damaging	Het
Cap2	T	G	13: 46,684,489 (GRCm39)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,468,332 (GRCm39)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,318,070 (GRCm39)	V234A	probably benign	Het
Cd207	C	T	6: 83,652,579 (GRCm39)	V184I	probably benign	Het
Cdk12	C	A	11: 98,132,587 (GRCm39)	C1005*	probably null	Het
Cep83	T	C	10: 94,586,129 (GRCm39)	S344P	probably damaging	Het
Ces1g	A	T	8: 94,033,582 (GRCm39)	Y447N	probably benign	Het
Cfh	A	G	1: 140,028,615 (GRCm39)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,142,525 (GRCm39)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,244,068 (GRCm39)	D59G	probably damaging	Het
Colq	G	A	14: 31,269,409 (GRCm39)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,862,275 (GRCm39)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,501,725 (GRCm39)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,178,912 (GRCm39)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,976,766 (GRCm39)	V306A	probably benign	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,323,539 (GRCm39)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,641,206 (GRCm39)	S344A	probably benign	Het
Dner	C	T	1: 84,423,311 (GRCm39)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,170,115 (GRCm39)	L139*	probably null	Het
Fam193a	T	A	5: 34,623,636 (GRCm39)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,396,385 (GRCm39)	Y102*	probably null	Het
Gm10509	A	G	17: 21,909,762 (GRCm39)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,197,921 (GRCm39)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,597,015 (GRCm39)		probably benign	Het
Heatr1	G	T	13: 12,411,341 (GRCm39)	A61S	probably benign	Het
Helb	G	T	10: 119,930,147 (GRCm39)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,474,781 (GRCm39)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,286,132 (GRCm39)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,158,461 (GRCm39)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,318,669 (GRCm39)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,327,232 (GRCm39)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 141,783,358 (GRCm39)	K97N	unknown	Het
Lcor	T	C	19: 41,547,705 (GRCm39)	S430P	probably benign	Het
Lpin1	A	G	12: 16,588,541 (GRCm39)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,000,837 (GRCm39)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 96,925,556 (GRCm39)		probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,930,131 (GRCm39)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm39)	L635*	probably null	Het
Nipbl	T	C	15: 8,368,035 (GRCm39)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,160,959 (GRCm39)	D196G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2b2b	A	G	13: 21,858,865 (GRCm39)	I83T	probably benign	Het
Or8b42	A	T	9: 38,342,291 (GRCm39)	I238F	probably benign	Het
Or8k16	A	G	2: 85,520,427 (GRCm39)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,325,833 (GRCm39)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,743,207 (GRCm39)	K298E	probably benign	Het
Pkd1	C	T	17: 24,813,459 (GRCm39)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,516,488 (GRCm39)	V546D	possibly damaging	Het
Plcg2	A	G	8: 118,319,447 (GRCm39)	K673E	probably benign	Het
Pld4	T	G	12: 112,729,826 (GRCm39)		probably null	Het
Plek	A	T	11: 16,942,901 (GRCm39)	N130K	probably damaging	Het
Prune2	G	A	19: 17,101,068 (GRCm39)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,048,723 (GRCm39)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,498,092 (GRCm39)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,786,826 (GRCm39)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,578,188 (GRCm39)	S168P	probably benign	Het
Sec24a	A	G	11: 51,624,590 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,987,984 (GRCm39)	M574I	probably benign	Het
Slk	T	C	19: 47,611,116 (GRCm39)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,991,603 (GRCm39)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,173,525 (GRCm39)	M174L	probably benign	Het
Spz1	T	A	13: 92,711,633 (GRCm39)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,422,814 (GRCm39)	R519S	probably benign	Het
Taf4	T	C	2: 179,618,324 (GRCm39)	H39R	unknown	Het
Tbx5	A	T	5: 119,983,178 (GRCm39)		probably null	Het
Tektl1	T	A	10: 78,583,031 (GRCm39)	K451M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Th	G	A	7: 142,451,903 (GRCm39)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,568,038 (GRCm39)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 155,009,779 (GRCm39)	H50L	possibly damaging	Het
Tpp2	T	A	1: 44,017,885 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim2	A	G	3: 84,098,107 (GRCm39)	I398T	possibly damaging	Het
Trpc5	A	T	X: 143,264,222 (GRCm39)	S212T	probably damaging	Het
Ttn	A	G	2: 76,617,678 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,678,407 (GRCm39)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,518,814 (GRCm39)	S260T	probably benign	Het
Vcan	A	G	13: 89,839,800 (GRCm39)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,589,282 (GRCm39)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,603,385 (GRCm39)	T205A	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
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
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'- TGAAGCCATCCACCTTAGAGAGCC -3'
(R):5'- AGACACTGAGATGTGAATGCAGCC -3'

Sequencing Primer
(F):5'- CACATACCTCCCCGTGGATG -3'
(R):5'- ggagataggctcttggtaagtg -3'

Posted On

2014-05-23