Mutagenetix > Incidental Mutation

Incidental Mutation 'R5614:Cfap54'

438152

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

043275-MU

Accession Numbers

Essential gene?

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

Stock #

R5614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92775619-93081618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93045049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 384 (L384P)

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: L384P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020200
Gene: ENSMUSG00000020014
AA Change: L384P

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: L384P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: L384P

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: L336P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127905
Gene: ENSMUSG00000020014
AA Change: L336P

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: L384P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (62/62)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	G	A	5: 24,550,142 (GRCm38)	A330V	probably benign	Het
Abca1	A	G	4: 53,046,132 (GRCm38)	V1712A	probably damaging	Het
Ankmy2	T	C	12: 36,193,784 (GRCm38)	S333P	probably damaging	Het
Arfrp1	A	G	2: 181,359,443 (GRCm38)		probably benign	Het
Atp13a2	A	G	4: 140,992,182 (GRCm38)	T21A	probably benign	Het
Bud23	C	A	5: 135,059,112 (GRCm38)	A152S	probably benign	Het
Cant1	T	C	11: 118,408,743 (GRCm38)	D260G	probably benign	Het
Ces1b	T	C	8: 93,068,208 (GRCm38)	I254M	probably benign	Het
Ces1d	T	C	8: 93,176,204 (GRCm38)	T375A	probably benign	Het
Chrne	C	T	11: 70,615,053 (GRCm38)	V469I	possibly damaging	Het
Clspn	A	G	4: 126,580,962 (GRCm38)	E968G	probably damaging	Het
Col5a3	A	G	9: 20,783,476 (GRCm38)		probably benign	Het
Dtx4	T	C	19: 12,482,183 (GRCm38)	Y419C	probably damaging	Het
Fam171b	T	A	2: 83,812,873 (GRCm38)	I42N	probably damaging	Het
Fam43a	T	C	16: 30,601,672 (GRCm38)	I358T	possibly damaging	Het
Fasn	T	C	11: 120,813,328 (GRCm38)	S1422G	probably benign	Het
Fig4	A	T	10: 41,272,985 (GRCm38)	V157E	probably damaging	Het
Fus	T	C	7: 127,974,371 (GRCm38)		probably benign	Het
Hmcn2	G	T	2: 31,428,303 (GRCm38)	V3887F	probably damaging	Het
Hmgcll1	A	G	9: 76,081,393 (GRCm38)	Y182C	probably damaging	Het
Hook2	T	A	8: 85,002,508 (GRCm38)	I585N	probably damaging	Het
Iars2	T	C	1: 185,289,508 (GRCm38)	T866A	probably benign	Het
Lrit1	T	A	14: 37,061,954 (GRCm38)	M413K	probably benign	Het
Myl9	G	A	2: 156,781,163 (GRCm38)		probably benign	Het
Nelfa	A	T	5: 33,920,500 (GRCm38)	L179Q	probably damaging	Het
Nod2	A	T	8: 88,664,196 (GRCm38)	D355V	probably damaging	Het
Npbwr1	A	T	1: 5,916,811 (GRCm38)	S161R	probably damaging	Het
Nxpe2	A	T	9: 48,323,101 (GRCm38)	F289I	probably benign	Het
Odf2	A	G	2: 29,920,867 (GRCm38)	I538M	probably damaging	Het
Osbpl6	T	A	2: 76,568,109 (GRCm38)	V379E	probably damaging	Het
Pkhd1	A	G	1: 20,073,526 (GRCm38)	C3859R	possibly damaging	Het
Rgs1	G	T	1: 144,246,257 (GRCm38)	T99N	probably benign	Het
Rnf6	T	C	5: 146,218,100 (GRCm38)		probably null	Het
Rtp1	C	A	16: 23,431,190 (GRCm38)	Q102K	possibly damaging	Het
Sec24c	T	A	14: 20,682,738 (GRCm38)	V123E	possibly damaging	Het
Serpini2	T	C	3: 75,257,707 (GRCm38)		probably benign	Het
Stxbp5	A	T	10: 9,760,894 (GRCm38)		probably benign	Het
Tecta	A	G	9: 42,339,055 (GRCm38)	S1809P	probably damaging	Het
Tgfb2	T	A	1: 186,625,513 (GRCm38)	I394F	probably benign	Het
Thg1l	T	C	11: 45,950,227 (GRCm38)	Y175C	possibly damaging	Het
Tmem67	C	A	4: 12,061,755 (GRCm38)	K572N	possibly damaging	Het
Tollip	T	C	7: 141,892,088 (GRCm38)	T19A	probably damaging	Het
Ttn	A	G	2: 76,712,107 (GRCm38)	Y25185H	probably damaging	Het
Vgll2	A	T	10: 52,025,222 (GRCm38)	R83*	probably null	Het
Wfdc8	G	T	2: 164,603,203 (GRCm38)	A164E	probably damaging	Het
Ylpm1	T	C	12: 85,064,944 (GRCm38)		probably benign	Het
Zfp326	T	A	5: 105,888,495 (GRCm38)	S91T	probably damaging	Het
Zfp638	T	C	6: 83,929,641 (GRCm38)	F263L	probably damaging	Het
Zfp800	G	A	6: 28,243,136 (GRCm38)	T610I	probably damaging	Het
Zmym4	A	G	4: 126,910,936 (GRCm38)	F475L	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
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'- GCAACTCACCCATTAATGTTGC -3'
(R):5'- TGGAAGACATCTACCACGCAG -3'

Sequencing Primer
(F):5'- CACCCATTAATGTTGCAAAACTGGG -3'
(R):5'- ACGCAGCGCTATTGACTGAG -3'

Posted On

2016-10-26