Mutagenetix > Incidental Mutation

Incidental Mutation 'R5936:Cfap54'

462271

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

044130-MU

Accession Numbers

Essential gene?

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

Stock #

R5936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92775619-93081618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92962412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1662 (T1662S)

Ref Sequence

ENSEMBL: ENSMUSP00000148636 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168110
AA Change: T1662S

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

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: T1662S

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: ENSMUST00000212902
AA Change: T1662S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

91% (77/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,615,504 (GRCm38)		probably benign	Het
Acnat2	T	C	4: 49,383,362 (GRCm38)	T64A	probably benign	Het
Afap1	A	G	5: 35,974,396 (GRCm38)	N356D	possibly damaging	Het
Ahi1	A	G	10: 20,965,933 (GRCm38)	D301G	probably damaging	Het
Alpk2	G	A	18: 65,350,520 (GRCm38)	T139M	probably damaging	Het
Ankrd46	T	C	15: 36,479,282 (GRCm38)	D221G	probably benign	Het
Ano6	T	A	15: 95,972,601 (GRCm38)	L900H	probably damaging	Het
Asphd2	G	A	5: 112,385,757 (GRCm38)	R343*	probably null	Het
Atosa	T	C	9: 75,009,304 (GRCm38)	L395P	probably benign	Het
Brdt	A	G	5: 107,359,395 (GRCm38)	T554A	probably damaging	Het
Cacna1d	A	G	14: 30,171,314 (GRCm38)	V401A	possibly damaging	Het
Cbs	T	C	17: 31,625,094 (GRCm38)	T188A	probably damaging	Het
Chka	A	G	19: 3,884,580 (GRCm38)	I205V	probably benign	Het
Chsy1	T	A	7: 66,172,277 (GRCm38)	N753K	possibly damaging	Het
Cpz	A	G	5: 35,502,643 (GRCm38)	S553P	probably benign	Het
Crtac1	A	G	19: 42,323,837 (GRCm38)	Y146H	probably damaging	Het
Csf1r	A	T	18: 61,125,808 (GRCm38)	I700F	probably damaging	Het
Ddx20	C	A	3: 105,680,587 (GRCm38)	E392D	possibly damaging	Het
Dhrs11	G	T	11: 84,825,524 (GRCm38)	Y67*	probably null	Het
Diaph3	G	T	14: 86,772,116 (GRCm38)	Q1076K	possibly damaging	Het
Dop1a	T	A	9: 86,536,512 (GRCm38)	L2037*	probably null	Het
Dst	G	T	1: 34,307,458 (GRCm38)	V5336L	probably damaging	Het
Etv1	C	A	12: 38,835,210 (GRCm38)	H248Q	probably damaging	Het
Fcgbp	T	C	7: 28,086,692 (GRCm38)	V518A	probably damaging	Het
Fchsd2	T	C	7: 101,191,701 (GRCm38)	L139S	probably damaging	Het
Fer	A	T	17: 63,924,063 (GRCm38)	T270S	probably benign	Het
Fgd5	A	G	6: 91,987,911 (GRCm38)	E375G	probably damaging	Het
Firrm	T	G	1: 163,987,012 (GRCm38)	I121L	probably benign	Het
Gabarapl1	T	A	6: 129,538,603 (GRCm38)	I68N	probably benign	Het
Gopc	C	T	10: 52,346,199 (GRCm38)	V30M	probably damaging	Het
Hbp1	T	C	12: 31,937,096 (GRCm38)		probably null	Het
Helz2	A	G	2: 181,230,767 (GRCm38)	V2480A	probably damaging	Het
Igfbp3	T	A	11: 7,209,472 (GRCm38)	Y247F	probably damaging	Het
Kbtbd11	C	A	8: 15,027,534 (GRCm38)	S44R	probably benign	Het
Kcnk10	G	T	12: 98,489,932 (GRCm38)	S213R	probably benign	Het
Kcnq3	T	A	15: 66,000,110 (GRCm38)	D570V	probably damaging	Het
Kif21a	A	G	15: 90,935,647 (GRCm38)	F1594S	possibly damaging	Het
Klf3	A	G	5: 64,822,960 (GRCm38)	D31G	probably damaging	Het
Mapkapk3	T	C	9: 107,289,170 (GRCm38)	K59E	probably damaging	Het
Myo18a	A	G	11: 77,818,213 (GRCm38)	T484A	probably damaging	Het
Nlrp6	T	A	7: 140,922,812 (GRCm38)	L277*	probably null	Het
Nr5a1	G	T	2: 38,701,778 (GRCm38)		probably benign	Het
Nsmaf	C	T	4: 6,421,017 (GRCm38)		probably benign	Het
Or4f58	T	A	2: 112,021,587 (GRCm38)	H89L	probably benign	Het
Orc1	A	G	4: 108,601,983 (GRCm38)	T450A	probably benign	Het
Pacsin1	A	T	17: 27,704,997 (GRCm38)	I122F	probably benign	Het
Pced1b	T	A	15: 97,385,182 (GRCm38)	Y367*	probably null	Het
Pced1b	T	A	15: 97,385,180 (GRCm38)	Y367N	possibly damaging	Het
Pdpk1	A	G	17: 24,093,229 (GRCm38)	F281L	probably damaging	Het
Piwil1	T	C	5: 128,751,078 (GRCm38)	V714A	probably benign	Het
Plcd3	C	T	11: 103,078,347 (GRCm38)	V265M	probably damaging	Het
Ppp1r1c	A	T	2: 79,756,454 (GRCm38)	E48V	possibly damaging	Het
Prl2b1	T	G	13: 27,388,449 (GRCm38)	T53P	probably damaging	Het
Ptch2	T	G	4: 117,108,294 (GRCm38)	F359V	probably benign	Het
R3hdm2	G	A	10: 127,471,812 (GRCm38)	S314N	probably damaging	Het
Rictor	A	T	15: 6,784,161 (GRCm38)	S1043C	probably damaging	Het
Rtn4rl2	A	T	2: 84,880,431 (GRCm38)	L163Q	probably damaging	Het
Sarnp	T	A	10: 128,848,771 (GRCm38)	S129T	probably benign	Het
Scube3	A	T	17: 28,165,487 (GRCm38)	K585M	probably damaging	Het
Sgk3	C	T	1: 9,885,820 (GRCm38)		probably benign	Het
Skint6	C	T	4: 113,096,593 (GRCm38)	S458N	probably benign	Het
Slc25a54	A	G	3: 109,098,638 (GRCm38)	H154R	possibly damaging	Het
Sorbs1	A	C	19: 40,324,772 (GRCm38)	I690S	probably damaging	Het
Sqle	C	A	15: 59,330,829 (GRCm38)	A512D	probably damaging	Het
Tedc2	A	C	17: 24,216,341 (GRCm38)	L358R	probably damaging	Het
Tfr2	A	G	5: 137,587,006 (GRCm38)	S767G	probably benign	Het
Thoc5	A	G	11: 4,904,133 (GRCm38)	E27G	probably damaging	Het
Trappc8	A	T	18: 20,874,688 (GRCm38)	F123L	probably damaging	Het
Ube3d	C	T	9: 86,372,459 (GRCm38)	G323D	probably benign	Het
Unc13c	T	A	9: 73,578,492 (GRCm38)	H1642L	probably damaging	Het
Vmn1r10	A	T	6: 57,114,317 (GRCm38)	H298L	probably benign	Het
Xpo4	A	T	14: 57,643,499 (GRCm38)	Y26N	probably benign	Het
Zer1	A	G	2: 30,107,667 (GRCm38)	L409P	probably damaging	Het
Zfyve28	A	T	5: 34,224,988 (GRCm38)	L256Q	probably damaging	Het
Zgrf1	A	G	3: 127,562,253 (GRCm38)	E376G	possibly damaging	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
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
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'- TATCCCAAGTTTCACGATAAAAGGC -3'
(R):5'- CGCAGTGTTACACCTGTGAATAG -3'

Sequencing Primer
(F):5'- GTGCTCTGCAGCTTTATCA -3'
(R):5'- CCTGTGAATAGTACATAACAAGTGG -3'

Posted On

2017-02-28