Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Cfap54'

552673

Institutional Source

Beutler Lab

Gene Symbol

Cfap54

Ensembl Gene

ENSMUSG00000020014

Gene Name

cilia and flagella associated protein 54

Synonyms

LOC380653, Gm872, 4930485B16Rik

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

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

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92611481-92917480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92656966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 3029 (K3029E)

Ref Sequence

ENSEMBL: ENSMUSP00000148636 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000168110
AA Change: K2964E

SMART Domains

Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: K2964E

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: K3029E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dot1l	A	G	10: 80,628,175 (GRCm39)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Hecw2	A	T	1: 53,904,280 (GRCm39)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Kmt5b	T	A	19: 3,865,412 (GRCm39)	D825E	probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Mug2	T	C	6: 122,052,206 (GRCm39)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp14	A	G	7: 106,784,021 (GRCm39)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pfkfb4	A	G	9: 108,836,370 (GRCm39)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,130,745 (GRCm39)	R109S	probably benign	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	probably damaging	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
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
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'- TATGGGCAGCAAAGCTCTG -3'
(R):5'- CTCTTCACAGTGAATTGAAAGGG -3'

Sequencing Primer
(F):5'- ATGGACTCCAAGCTCTCCTG -3'
(R):5'- GGTGCCCTTTTCTATAAGGA -3'

Posted On

2019-05-15