Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Cfap45'

7323

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap45

Ensembl Gene

ENSMUSG00000026546

Gene Name

cilia and flagella associated protein 45

Synonyms

1700028D05Rik, Nesg1, Ccdc19

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

172520801-172545870 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 172535345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000159395] [ENSMUST00000159792] [ENSMUST00000160303] [ENSMUST00000161140] [ENSMUST00000162988]

AlphaFold

Q9D9U9

Predicted Effect

probably benign
Transcript: ENSMUST00000085894

SMART Domains

Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546

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

probably benign
Transcript: ENSMUST00000159395

SMART Domains

Protein: ENSMUSP00000125224
Gene: ENSMUSG00000026546

Domain	Start	End	E-Value	Type
coiled coil region	128	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159792

SMART Domains

Protein: ENSMUSP00000124540
Gene: ENSMUSG00000026546

Domain	Start	End	E-Value	Type
coiled coil region	128	162	N/A	INTRINSIC

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160531

Predicted Effect

probably benign
Transcript: ENSMUST00000161140

Predicted Effect

probably benign
Transcript: ENSMUST00000162988

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Cfap45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Cfap45	APN	1	172534049	missense	probably damaging	1.00
IGL03235:Cfap45	APN	1	172538493	missense	possibly damaging	0.55
R0194:Cfap45	UTSW	1	172541327	missense	probably benign	0.05
R0883:Cfap45	UTSW	1	172532189	missense	possibly damaging	0.90
R1130:Cfap45	UTSW	1	172545697	missense	probably damaging	1.00
R1168:Cfap45	UTSW	1	172545697	missense	probably damaging	1.00
R1356:Cfap45	UTSW	1	172527863	missense	possibly damaging	0.53
R1522:Cfap45	UTSW	1	172540572	missense	probably damaging	1.00
R1921:Cfap45	UTSW	1	172545112	missense	probably damaging	1.00
R1922:Cfap45	UTSW	1	172545112	missense	probably damaging	1.00
R2203:Cfap45	UTSW	1	172532161	missense	probably benign	0.28
R2204:Cfap45	UTSW	1	172532161	missense	probably benign	0.28
R2205:Cfap45	UTSW	1	172532161	missense	probably benign	0.28
R3156:Cfap45	UTSW	1	172545724	missense	possibly damaging	0.93
R4059:Cfap45	UTSW	1	172538489	missense	probably benign	0.00
R4151:Cfap45	UTSW	1	172532221	missense	probably damaging	0.98
R4445:Cfap45	UTSW	1	172535227	missense	probably benign	0.07
R4548:Cfap45	UTSW	1	172545108	missense	probably benign	0.00
R4582:Cfap45	UTSW	1	172529912	missense	probably benign	0.42
R4909:Cfap45	UTSW	1	172529876	missense	probably benign	0.14
R5200:Cfap45	UTSW	1	172545129	nonsense	probably null
R5800:Cfap45	UTSW	1	172538600	missense	probably damaging	0.98
R6520:Cfap45	UTSW	1	172540584	missense	probably damaging	1.00
R6662:Cfap45	UTSW	1	172529850	missense	probably benign	0.01
R7378:Cfap45	UTSW	1	172538343	splice site	probably null
R7390:Cfap45	UTSW	1	172541358	missense	probably benign	0.00
R7468:Cfap45	UTSW	1	172535310	nonsense	probably null
R7545:Cfap45	UTSW	1	172538596	missense	probably benign
R7988:Cfap45	UTSW	1	172529934	missense	probably damaging	1.00
R8212:Cfap45	UTSW	1	172541500	splice site	probably null
R8272:Cfap45	UTSW	1	172527839	missense	possibly damaging	0.53
R8939:Cfap45	UTSW	1	172545267	missense	probably damaging	1.00
R9461:Cfap45	UTSW	1	172535327	missense	possibly damaging	0.92
Z1176:Cfap45	UTSW	1	172545284	missense	probably benign

Posted On

2012-04-20