Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Cfap45'

167489

Institutional Source

Beutler Lab

Gene Symbol

Cfap45

Ensembl Gene

ENSMUSG00000026546

Gene Name

cilia and flagella associated protein 45

Synonyms

1700028D05Rik, Nesg1, Ccdc19

MMRRC Submission

040871-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.703) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172520801-172545870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172540572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 377 (E377G)

Ref Sequence

ENSEMBL: ENSMUSP00000083057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000160303]

AlphaFold

Q9D9U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000085894
AA Change: E377G

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

SMART Domains

Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: E377G

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:TPH	187	532	1.5e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140307

Predicted Effect

probably benign
Transcript: ENSMUST00000160303

SMART Domains

Protein: ENSMUSP00000124646
Gene: ENSMUSG00000026546

Domain	Start	End	E-Value	Type
Pfam:Trichoplein	1	64	1.9e-12	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586 (GRCm38)	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694 (GRCm38)	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094 (GRCm38)	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492 (GRCm38)	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319 (GRCm38)	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617 (GRCm38)	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867 (GRCm38)	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432 (GRCm38)	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769 (GRCm38)	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680 (GRCm38)	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890 (GRCm38)	T692P	probably damaging	Het
C9	T	A	15: 6,486,762 (GRCm38)	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433 (GRCm38)	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975 (GRCm38)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276 (GRCm38)	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889 (GRCm38)	Y160N	possibly damaging	Het
Clca3a1	T	A	3: 144,755,171 (GRCm38)	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966 (GRCm38)	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279 (GRCm38)	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254 (GRCm38)	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994 (GRCm38)	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367 (GRCm38)	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132 (GRCm38)	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557 (GRCm38)	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715 (GRCm38)	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553 (GRCm38)	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707 (GRCm38)	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229 (GRCm38)	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887 (GRCm38)	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539 (GRCm38)	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577 (GRCm38)	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650 (GRCm38)	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204 (GRCm38)	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749 (GRCm38)	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853 (GRCm38)	S291*	probably null	Het
Itga5	G	A	15: 103,356,782 (GRCm38)	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183 (GRCm38)	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113 (GRCm38)	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416 (GRCm38)	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012 (GRCm38)	V256E	possibly damaging	Het
Lrp1	A	T	10: 127,575,286 (GRCm38)	D1399E	probably benign	Het
Lrp1	G	T	10: 127,567,364 (GRCm38)	D2113E	probably damaging	Het
Mmel1	A	G	4: 154,894,986 (GRCm38)	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466 (GRCm38)	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623 (GRCm38)		probably null	Het
Nedd1	T	C	10: 92,719,614 (GRCm38)	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909 (GRCm38)	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166 (GRCm38)	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770 (GRCm38)	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348 (GRCm38)		probably null	Het
Olfr199	T	G	16: 59,215,984 (GRCm38)	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533 (GRCm38)	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005 (GRCm38)	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681 (GRCm38)	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648 (GRCm38)	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157 (GRCm38)	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425 (GRCm38)	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267 (GRCm38)	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696 (GRCm38)	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542 (GRCm38)	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871 (GRCm38)	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482 (GRCm38)	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086 (GRCm38)	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004 (GRCm38)	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533 (GRCm38)	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197 (GRCm38)	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612 (GRCm38)	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076 (GRCm38)		probably null	Het
Selenbp1	G	A	3: 94,937,358 (GRCm38)	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546 (GRCm38)	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501 (GRCm38)	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224 (GRCm38)	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082 (GRCm38)	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009 (GRCm38)	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783 (GRCm38)	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246 (GRCm38)	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318 (GRCm38)	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576 (GRCm38)	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597 (GRCm38)	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696 (GRCm38)	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002 (GRCm38)	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471 (GRCm38)	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482 (GRCm38)	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638 (GRCm38)	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183 (GRCm38)	L225*	probably null	Het
Trim42	A	T	9: 97,365,679 (GRCm38)	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640 (GRCm38)	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334 (GRCm38)	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943 (GRCm38)	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716 (GRCm38)		probably benign	Het
Uap1	A	C	1: 170,150,941 (GRCm38)		probably null	Het
Ush2a	T	C	1: 188,797,814 (GRCm38)	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166 (GRCm38)	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808 (GRCm38)	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268 (GRCm38)	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172 (GRCm38)		probably null	Het
Zfp182	T	A	X: 21,031,560 (GRCm38)	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648 (GRCm38)	Y472N	probably damaging	Het

Other mutations in Cfap45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Cfap45	APN	1	172,535,345 (GRCm38)	unclassified	probably benign
IGL01936:Cfap45	APN	1	172,534,049 (GRCm38)	missense	probably damaging	1.00
IGL03235:Cfap45	APN	1	172,538,493 (GRCm38)	missense	possibly damaging	0.55
R0194:Cfap45	UTSW	1	172,541,327 (GRCm38)	missense	probably benign	0.05
R0883:Cfap45	UTSW	1	172,532,189 (GRCm38)	missense	possibly damaging	0.90
R1130:Cfap45	UTSW	1	172,545,697 (GRCm38)	missense	probably damaging	1.00
R1168:Cfap45	UTSW	1	172,545,697 (GRCm38)	missense	probably damaging	1.00
R1356:Cfap45	UTSW	1	172,527,863 (GRCm38)	missense	possibly damaging	0.53
R1921:Cfap45	UTSW	1	172,545,112 (GRCm38)	missense	probably damaging	1.00
R1922:Cfap45	UTSW	1	172,545,112 (GRCm38)	missense	probably damaging	1.00
R2203:Cfap45	UTSW	1	172,532,161 (GRCm38)	missense	probably benign	0.28
R2204:Cfap45	UTSW	1	172,532,161 (GRCm38)	missense	probably benign	0.28
R2205:Cfap45	UTSW	1	172,532,161 (GRCm38)	missense	probably benign	0.28
R3156:Cfap45	UTSW	1	172,545,724 (GRCm38)	missense	possibly damaging	0.93
R4059:Cfap45	UTSW	1	172,538,489 (GRCm38)	missense	probably benign	0.00
R4151:Cfap45	UTSW	1	172,532,221 (GRCm38)	missense	probably damaging	0.98
R4445:Cfap45	UTSW	1	172,535,227 (GRCm38)	missense	probably benign	0.07
R4548:Cfap45	UTSW	1	172,545,108 (GRCm38)	missense	probably benign	0.00
R4582:Cfap45	UTSW	1	172,529,912 (GRCm38)	missense	probably benign	0.42
R4909:Cfap45	UTSW	1	172,529,876 (GRCm38)	missense	probably benign	0.14
R5200:Cfap45	UTSW	1	172,545,129 (GRCm38)	nonsense	probably null
R5800:Cfap45	UTSW	1	172,538,600 (GRCm38)	missense	probably damaging	0.98
R6520:Cfap45	UTSW	1	172,540,584 (GRCm38)	missense	probably damaging	1.00
R6662:Cfap45	UTSW	1	172,529,850 (GRCm38)	missense	probably benign	0.01
R7378:Cfap45	UTSW	1	172,538,343 (GRCm38)	splice site	probably null
R7390:Cfap45	UTSW	1	172,541,358 (GRCm38)	missense	probably benign	0.00
R7468:Cfap45	UTSW	1	172,535,310 (GRCm38)	nonsense	probably null
R7545:Cfap45	UTSW	1	172,538,596 (GRCm38)	missense	probably benign
R7988:Cfap45	UTSW	1	172,529,934 (GRCm38)	missense	probably damaging	1.00
R8212:Cfap45	UTSW	1	172,541,500 (GRCm38)	splice site	probably null
R8272:Cfap45	UTSW	1	172,527,839 (GRCm38)	missense	possibly damaging	0.53
R8939:Cfap45	UTSW	1	172,545,267 (GRCm38)	missense	probably damaging	1.00
R9461:Cfap45	UTSW	1	172,535,327 (GRCm38)	missense	possibly damaging	0.92
Z1176:Cfap45	UTSW	1	172,545,284 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCTGGAAAGCACGTTCCCTG -3'
(R):5'- ATGCCACATTTCCCCTGGTGAC -3'

Sequencing Primer
(F):5'- GCAGAGTATGAAGCTGAGCA -3'
(R):5'- agcacatacttctactctcttcc -3'

Posted On

2014-04-13